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Jouni Uitto

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Jouni Uitto; Andras Váradi; Lionel Bercovitch; Patrick F Terry; Sharon F Terry
Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting.
Qiaoli Li; Leon J Schurgers; Sharon F Terry; David W Chou; Haitao Guo; Dominic J Harrington; Jouni Uitto
Warfarin accelerates ectopic mineralization in Abcc6(-/-) mice: clinical relevance to pseudoxanthoma elasticum.
Leon J Schurgers; Jouni Uitto; Chris P Reutelingsperger
Vitamin K-dependent carboxylation of matrix Gla-protein: a crucial switch to control ectopic mineralization.

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2013: Jouni Uitto; Andras Váradi; Lionel Bercovitch; Patrick F Terry; Sharon F Terry
Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting.
The Journal of investigative dermatology 2013;133(6):1444-9.
2013: Qiaoli Li; Leon J Schurgers; Sharon F Terry; David W Chou; Haitao Guo; Dominic J Harrington; Jouni Uitto
Warfarin accelerates ectopic mineralization in Abcc6(-/-) mice: clinical relevance to pseudoxanthoma elasticum.
The American journal of pathology 2013;182(4):1139-50.
2013: Leon J Schurgers; Jouni Uitto; Chris P Reutelingsperger
Vitamin K-dependent carboxylation of matrix Gla-protein: a crucial switch to control ectopic mineralization.
Trends in molecular medicine 2013;19(4):217-26.
2013: Annerose Berndt; Victoria Kennedy; Qiaoli Li; Yanhua Liang; Christopher S Potter; Kathleen A Silva; Jouni Uitto; John P Sundberg
A single-nucleotide polymorphism in the Abcc6 gene associates with connective tissue mineralization in mice similar to targeted models for pseudoxanthoma elasticum.
The Journal of investigative dermatology 2013;133(3):833-6.
2013: Vitali Alexeev; Adele Donahue; Jouni Uitto; Olga Igoucheva
Analysis of chemotactic molecules in bone marrow-derived mesenchymal stem cells and the skin: Ccl27-Ccr10 axis as a basis for targeting to cutaneous tissues.
Cytotherapy 2013;15(2):171-184.e1.
2013: Jouni Uitto; Qiaoli Li; Zsolt Urban
The complexity of elastic fibre biogenesis in the skin--a perspective to the clinical heterogeneity of cutis laxa.
Experimental dermatology 2013;22(2):88-92.
2013: Qiaoli Li; Jouni Uitto
Zebrafish as a model system to study heritable skin diseases.
Methods in molecular biology (Clifton, N.J.) 2013;961():411-24.
2012: Jouni Uitto; Cristina Has; Leena Bruckner-Tuderman
Cell-based therapies for epidermolysis bullosa - from bench to bedside.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG 2012;10(11):803-7.
2012: Jouni Uitto
Rare heritable skin diseases: targets for regenerative medicine.
The Journal of investigative dermatology 2012;132(11):2485-8.
2012: Hiroko Umemoto; Motohiro Uo; Satoru Shinkuma; Jouni Uitto; Masashi Akiyama; Takuya Asaka; Takanori Domon; Kei Ito; Yoshimasa Kitagawa; Toshifumi Nomura; Daisuke Sawamura; Hiroshi Shimizu
Type VII collagen deficiency causes defective tooth enamel formation due to poor differentiation of ameloblasts.
The American journal of pathology 2012;181(5):1659-71.
2012: Qiaoli Li; John P Sundberg; Annerose Berndt; Haitao Guo; Jouni Uitto
A novel animal model for pseudoxanthoma elasticum: the KK/HlJ mouse.
The American journal of pathology 2012;181(4):1190-6.
2012: Anna M G Pasmooij; Marcel F Jonkman; Jouni Uitto
Revertant mosaicism in heritable skin diseases: mechanisms of natural gene therapy.
Discovery medicine 2012;14(76):167-79.
2012: Qiujie Jiang; Jouni Uitto
Restricting dietary magnesium accelerates ectopic connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-) ).
Experimental dermatology 2012;21(9):694-9.
2012: Ofer Sarig; Stavit Shalev; Ronen Spiegel; Jouni Uitto; Zvi-Uri Borochowitz; Ksenya Cohen-Katsenelson; Dana Fuchs-Telem; Mia Horowitz; Akemi Ishida-Yamamoto; Shirli Israeli; Sagi Nahum; Janna Nousbeck; Gilly Padalon-Brauch; Li Qiaoli; Debora Rapaport; Eli Sprecher
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.
American journal of human genetics 2012;91(2):337-42.
2012: Moetaz El-Domyati; Hasan El-Fakahany; My G Mahoney; Walid Medhat; Osama Moawad; Tarek S El-Ammawi; Jouni Uitto
Efficacy of mesotherapy in facial rejuvenation: a histological and immunohistochemical evaluation.
International journal of dermatology 2012;51(8):913-9.
2012: Dana Fuchs-Telem; Ofer Isakov; Shirli Israeli; Janna Nousbeck; Gabriele Richard; Katharina Richard; Ofer Sarig; Noam Shomron; Jouni Uitto; Maurice A M van Steensel; Marigje Vernooij; Veronique Winnepenninckx; Philip Fleckman; Eli Sprecher
Familial pityriasis rubra pilaris is caused by mutations in CARD14.
American journal of human genetics 2012;91(1):163-70.
2012: Qiaoli Li; Hirotaka Matsui; Eli Sprecher; John P Sundberg; Haitao Guo; Hiroaki Honda; Toshiya Inaba; Jouni Uitto
Mouse Samd9l is not a functional paralogue of the human SAMD9, the gene mutated in normophosphataemic familial tumoral calcinosis.
Experimental dermatology 2012;21(7):554-6.
2012: Erine A Kupetsky-Rincon; Qiaoli Li; Jouni Uitto
Magnesium reduces carotid intima-media thickness in a mouse model of pseudoxanthoma elasticum: a novel treatment biomarker.
Clinical and translational science 2012;5(3):259-64.
2012: Moetaz El-Domyati; My G Mahoney; Walid Medhat; Osama Moawad; Tarek S El-Ammawi; Jouni Uitto
Multiple minimally invasive Erbium: Yttrium Aluminum Garnet laser mini-peels for skin rejuvenation: an objective assessment.
Journal of cosmetic dermatology 2012;11(2):122-30.
2012: Julio C Salas-Alanis; Rodrigo Cepeda-Valdes; Angela M Christiano; Jemima E Mellerio; Jouni Uitto
Progress in epidermolysis bullosa: summary of a workshop in CILAD-2010*.
International journal of dermatology 2012;51(6):682-7.
2012: N Beril Kavukcuoglu; Qiaoli Li; Nancy Pleshko; Jouni Uitto
Connective tissue mineralization in Abcc6-/- mice, a model for pseudoxanthoma elasticum.
Matrix biology : journal of the International Society for Matrix Biology 2012;31(4):246-52.
2012: Qiaoli Li; W Schumacher; D Siegel; D Jablonski; Jouni Uitto
Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene.
The British journal of dermatology 2012;166(5):1107-11.
2012: Tamara Lazic; Qiaoli Li; Jouni Uitto; Michael Frank; Linda H Zhou
Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings.
Pediatric dermatology 2012;29(3):349-57.
2012: Jouni Uitto; Ulrich Rodeck
Integration of investigative dermatology into the global biomedical research enterprise: past, present, and future.
The Journal of investigative dermatology 2012;132(3 Pt 2):1029-32.
2012: Jouni Uitto; W H Irwin McLean; Angela M Christiano; John A McGrath
Novel molecular therapies for heritable skin disorders.
The Journal of investigative dermatology 2012;132(3 Pt 2):820-8.
2012: Qiujie Jiang; Shunsuke Takahagi; Jouni Uitto
Administration of bone marrow derived mesenchymal stem cells into the liver: potential to rescue pseudoxanthoma elasticum in a mouse model (Abcc6-/-).
Journal of biomedicine & biotechnology 2012;2012():818937.
2012: Jouni Uitto
Molecular therapeutics for heritable skin diseases.
The Journal of investigative dermatology 2012;132(E1):E29-34.
2012: Qiaoli Li; Jouni Uitto
Heritable ectopic mineralization disorders: the paradigm of pseudoxanthoma elasticum.
The Journal of investigative dermatology 2012;132(E1):E15-9.
2012: Jouni Uitto
Milestones in genetics of structural skin disorders.
The Journal of investigative dermatology 2012;132(E1):E1.
2012: Tracy L Adair-Kirk; Gail L Griffin; Douglas R Keene; Diane G Kelley; M Peter Marinkovich; Michelle J Meyer; Jeffrey H Miner; J Michael Ruppert; Jouni Uitto; Robert M Senior
Keratinocyte-targeted expression of human laminin γ2 rescues skin blistering and early lethality of laminin γ2 deficient mice.
PloS one 2012;7(9):e45546.
2012: Erine A Kupetsky-Rincon; Jouni Uitto
Magnesium: novel applications in cardiovascular disease--a review of the literature.
Annals of nutrition & metabolism 2012;61(2):102-10.
2011: Krisztina Fülöp; Qiujie Jiang; Viola Pomozi; Balázs Sarkadi; Pál T Szabó; Jouni Uitto; Tamás Arányi; Piet Borst; Koen V D Wetering; András Váradi
ABCC6 does not transport vitamin K3-glutathione conjugate from the liver: relevance to pathomechanisms of pseudoxanthoma elasticum.
Biochemical and biophysical research communications 2011;415(3):468-71.
2011: Moetaz El-Domyati; My G Mahoney; Walid Medhat; Osama Moawad; Tarek S El-Ammawi; Jouni Uitto
Intense pulsed light photorejuvenation: a histological and immunohistochemical evaluation.
Journal of drugs in dermatology : JDD 2011;10(11):1246-52.
2011: Qiaoli Li; Hiroshi Shimizu; Eli Sprecher; Bernard Thisse; Christine Thisse; Masashi Akiyama; Michael Frank; Shiu-Ying Ho; Jouni Uitto
Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis.
Disease models & mechanisms 2011;4(6):777-85.
2011: Zalán Szabó; Qiaoli Li; András Váradi; Jouni Uitto
ABCC6 does not transport adenosine - relevance to pathomechanism of pseudoxanthoma elasticum.
Molecular genetics and metabolism 2011;104(3):421; author reply 422.
2011: Jennifer LaRusso; Qiaoli Li; Jouni Uitto
Pseudoxanthoma elasticum, the paradigm of heritable ectopic mineralization disorders - can diet help?
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG 2011;9(8):586-93.
2011: Jouni Uitto; Sharon F Terry; Lionel Bercovitch; Patrick F Terry
Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment : Summary of the 2010 PXE International Research Meeting.
American journal of medical genetics. Part A 2011;155A(7):1517-26.
2011: Qiujie Jiang; Qiaoli Li; Hirotaka Matsui; Benjamin Quaynor; Eli Sprecher; Alex Sun; Hiroaki Honda; Toshiya Inaba; Jouni Uitto
The Samd9L gene: transcriptional regulation and tissue-specific expression in mouse development.
The Journal of investigative dermatology 2011;131(7):1428-34.
2011: Elisabeth S Papazoglou; C Sunkari; Z Y Huang; Jouni Uitto
The role of Syk kinase in ultraviolet-mediated skin damage.
The British journal of dermatology 2011;165(1):69-77.
2011: Moetaz El-Domyati; Tarek S El-Ammawi; Walid Medhat; Osama Moawad; My G Mahoney; Jouni Uitto
Effects of the Nd:YAG 1320-nm laser on skin rejuvenation: clinical and histological correlations.
Journal of cosmetic and laser therapy : official publication of the European Society for Laser Dermatology 2011;13(3):98-106.
2011: Lars Remvig; Raoul H Engelbert; Britta Berglund; Antonio Bulbena; Peter H Byers; Rodney Grahame; Birgit Juul-Kristensen; Karl-August Lindgren; Jouni Uitto; Lena L Wekre
Need for a consensus on the methods by which to measure joint mobility and the definition of norms for hypermobility that reflect age, gender and ethnic-dependent variation: is revision of criteria for joint hypermobility syndrome and Ehlers-Danlos syndrome hypermobility type indicated?
Rheumatology (Oxford, England) 2011;50(6):1169-71.
2011: Jouni Uitto
In this issue: glycine substitution mutations in the COL7A1 gene: implications for inheritance of dystrophic epidermolysis bullosa - dominant vs. recessive.
Acta dermato-venereologica 2011;91(3):259-61.
2011: Qiaoli Li; Jouni Uitto
Expression of the Abca-subfamily of genes in Abcc6-/- mice--upregulation of Abca4.
Experimental dermatology 2011;20(5):452-4.
2011: Katsuto Tamai; Takehiko Yamazaki; Takenao Chino; Masaru Ishii; Satoru Otsuru; Yasushi Kikuchi; Shin Iinuma; Kotaro Saga; Keisuke Nimura; Takashi Shimbo; Noriko Umegaki; Ichiro Katayama; Jun-Ichi Miyazaki; Junji Takeda; John A McGrath; Jouni Uitto; Yasufumi Kaneda
PDGFRalpha-positive cells in bone marrow are mobilized by high mobility group box 1 (HMGB1) to regenerate injured epithelia.
Proceedings of the National Academy of Sciences of the United States of America 2011;108(16):6609-14.
2011: Jouni Uitto
Regenerative medicine for skin diseases: iPS cells to the rescue.
The Journal of investigative dermatology 2011;131(4):812-4.
2011: Moetaz El-Domyati; Tarek S el-Ammawi; Walid Medhat; Osama Moawad; Donna Brennan; My G Mahoney; Jouni Uitto
Radiofrequency facial rejuvenation: evidence-based effect.
Journal of the American Academy of Dermatology 2011;64(3):524-35.
2011: Joey E Lai-Cheong; John A McGrath; Jouni Uitto
Revertant mosaicism in skin: natural gene therapy.
Trends in molecular medicine 2011;17(3):140-8.
2011: Qiaoli Li; Michael Frank; Christine I Thisse; Bernard V Thisse; Jouni Uitto
Zebrafish: a model system to study heritable skin diseases.
The Journal of investigative dermatology 2011;131(3):565-71.
2011: Qiaoli Li; Sara Sadowski; Jouni Uitto
Angioid streaks in Pseudoxanthoma Elasticum: role of the p.R1268Q mutation in the ABCC6 gene.
The Journal of investigative dermatology 2011;131(3):782-5.
2011: Dov Hershkovitz; Yonit Gross; Sagi Nahum; Shiran Yehezkel; Ofer Sarig; Jouni Uitto; Eli Sprecher
Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis.
The Journal of investigative dermatology 2011;131(3):662-9.
2011: Qiujie Jiang; Qiaoli Li; Alix E Grand-Pierre; Leon J Schurgers; Jouni Uitto
Administration of vitamin K does not counteract the ectopic mineralization of connective tissues in Abcc6 (-/-) mice, a model for pseudoxanthoma elasticum.
Cell cycle (Georgetown, Tex.) 2011;10(4):701-7.
2011: Vitali Alexeev; Jouni Uitto; Olga Igoucheva
Gene expression signatures of mouse bone marrow-derived mesenchymal stem cells in the cutaneous environment and therapeutic implications for blistering skin disorder.
Cytotherapy 2011;13(1):30-45.
2010: Moetaz El-Domyati; Tarek S El-Ammawi; Walid Medhat; Osama Moawad; My G Mahoney; Jouni Uitto
Electro-optical Synergy Technique: A New and Effective Nonablative Approach to Skin Aging.
The Journal of clinical and aesthetic dermatology 2010;3(12):22-30.
2010: Jennifer Larusso; Franziska Ringpfeil; Jouni Uitto
Pseudoxanthoma elasticum: a streamlined, ethnicity-based mutation detection strategy.
Clinical and translational science 2010;3(6):295-8.
2010: Qiaoli Li; Sara Sadowski; Michael Frank; Chunli Chai; Andras Váradi; Shiu-Ying Ho; Hong Lou; Michael Dean; Christine Thisse; Bernard Thisse; Jouni Uitto
The abcc6a gene expression is required for normal zebrafish development.
The Journal of investigative dermatology 2010;130(11):2561-8.
2010: Seong Hyun Kim; Hae Young Choi; Ju-Hoon So; Cheol-Hee Kim; Shiu-Ying Ho; Michael Frank; Qiaoli Li; Jouni Uitto
Zebrafish type XVII collagen: gene structures, expression profiles, and morpholino "knock-down" phenotypes.
Matrix biology : journal of the International Society for Matrix Biology 2010;29(7):629-37.
2010: Qiaoli Li; L Török; L Kocsis; Jouni Uitto
Mutation analysis (ABCC6) in a family with pseudoxanthoma elasticum: presymptomatic testing with prognostic implications.
The British journal of dermatology 2010;163(3):641-3.
2010: Jouni Uitto; John A McGrath; Ulrich Rodeck; Leena Bruckner-Tuderman; E Clare Robinson
Progress in epidermolysis bullosa research: toward treatment and cure.
The Journal of investigative dermatology 2010;130(7):1778-84.
2010: Leena Bruckner-Tuderman; John A McGrath; E Clare Robinson; Jouni Uitto
Animal models of epidermolysis bullosa: update 2010.
The Journal of investigative dermatology 2010;130(6):1485-8.
2010: Qiujie Jiang; Florian Dibra; Michael D Lee; Reid Oldenburg; Jouni Uitto
Overexpression of fetuin-a counteracts ectopic mineralization in a mouse model of pseudoxanthoma elasticum (abcc6(-/-)).
The Journal of investigative dermatology 2010;130(5):1288-96.
2010: Qiujie Jiang; Reid Oldenburg; Satoru Otsuru; Alix E Grand-Pierre; Edwin M Horwitz; Jouni Uitto
Parabiotic heterogenetic pairing of Abcc6-/-/Rag1-/- mice and their wild-type counterparts halts ectopic mineralization in a murine model of pseudoxanthoma elasticum.
The American journal of pathology 2010;176(4):1855-62.
2010: My G Mahoney; Sara Sadowski; Donna Brennan; Pekka Pikander; Pekka Saukko; James Wahl; Heikki Aho; Kristiina Heikinheimo; Leena Bruckner-Tuderman; Andrzej Fertala; Juha Peltonen; Jouni Uitto; Sirkku Peltonen
Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities.
The Journal of investigative dermatology 2010;130(4):968-78.
2010: Jouni Uitto; Qiaoli Li; Qiujie Jiang
Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms.
The Journal of investigative dermatology 2010;130(3):661-70.
2010: Qiaoli Li; Jouni Uitto
The mineralization phenotype in Abcc6 ( -/- ) mice is affected by Ggcx gene deficiency and genetic background--a model for pseudoxanthoma elasticum.
Journal of molecular medicine (Berlin, Germany) 2010;88(2):173-81.
2010: Hye Jin Chung; Jouni Uitto
Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa.
Dermatologic clinics 2010;28(1):93-105.
2010: Hye Jin Chung; Jouni Uitto
Epidermolysis bullosa with pyloric atresia.
Dermatologic clinics 2010;28(1):43-54.
2010: Elisabeth S Papazoglou; Chetana Sunkari; Mike Neidrauer; John F Klement; Jouni Uitto
Noninvasive assessment of UV-induced skin damage: comparison of optical measurements to histology and MMP expression.
Photochemistry and photobiology 2010;86(1):138-45.
2009: Hye Jin Chung; Andrzej Steplewski; Jouni Uitto; Andrzej Fertala
Fluorescent protein markers to tag collagenous proteins: the paradigm of procollagen VII.
Biochemical and biophysical research communications 2009;390(3):662-6.
2009: Qiaoli Li; Jennifer Larusso; Alix E Grand-Pierre; Jouni Uitto
Magnesium carbonate-containing phosphate binder prevents connective tissue mineralization in Abcc6(-/-) mice-potential for treatment of pseudoxanthoma elasticum.
Clinical and translational science 2009;2(6):398-404.
2009: Kei Ito; Daisuke Sawamura; Maki Goto; Hideki Nakamura; Wataru Nishie; Kaori Sakai; Ken Natsuga; Satoru Shinkuma; Akihiko Shibaki; Jouni Uitto; Christopher P Denton; Osamu Nakajima; Masashi Akiyama; Hiroshi Shimizu
Keratinocyte-/fibroblast-targeted rescue of Col7a1-disrupted mice and generation of an exact dystrophic epidermolysis bullosa model using a human COL7A1 mutation.
The American journal of pathology 2009;175(6):2508-17.
2009: Sundar Babu; Chengxiang Fan; Leonard Stepanskiy; Jouni Uitto; Elisabeth Papazoglou
Effect of size at the nanoscale and bilayer rigidity on skin diffusion of liposomes.
Journal of biomedical materials research. Part A 2009;91(1):140-8.
2009: Katsuto Tamai; Yasufumi Kaneda; Jouni Uitto
Molecular therapies for heritable blistering diseases.
Trends in molecular medicine 2009;15(7):285-92.
2009: Jennifer LaRusso; Qiaoli Li; Qiujie Jiang; Jouni Uitto
Elevated dietary magnesium prevents connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-)).
The Journal of investigative dermatology 2009;129(6):1388-94.
2009: My G Mahoney; Donna Brennan; Barry Starcher; Joseph Faryniarz; Jose Ramirez; Lisa Parr; Jouni Uitto
Extracellular matrix in cutaneous ageing: the effects of 0.1% copper-zinc malonate-containing cream on elastin biosynthesis.
Experimental dermatology 2009;18(3):205-11.
2009: Qiaoli Li; Dorothy K Grange; Nicole L Armstrong; Alison J Whelan; Maria Y Hurley; Mark A Rishavy; Kevin W Hallgren; Kathleen L Berkner; Leon J Schurgers; Qiujie Jiang; Jouni Uitto
Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.
The Journal of investigative dermatology 2009;129(3):553-63.
2009: Qiaoli Li; Leon J Schurgers; Ann C M Smith; Maria Tsokos; Jouni Uitto; Edward W Cowen
Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene.
The American journal of pathology 2009;174(2):534-40.
2009: Qiujie Jiang; Masayuki Endo; Florian Dibra; Krystle Wang; Jouni Uitto
Pseudoxanthoma elasticum is a metabolic disease.
The Journal of investigative dermatology 2009;129(2):348-54.
2009: Jakub Tolar; Akemi Ishida-Yamamoto; Megan Riddle; Ron T McElmurry; Mark Osborn; Lily Xia; Troy Lund; Catherine Slattery; Jouni Uitto; Angela M Christiano; John E Wagner; Bruce R Blazar
Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells.
Blood 2009;113(5):1167-74.
2009: Jouni Uitto
Progress in heritable skin diseases: translational implications of mutation analysis and prospects of molecular therapies*.
Acta dermato-venereologica 2009;89(3):228-35.
2009: Jouni Uitto
Phenotypic complexity of epidermolysis bullosa: the paradigm of the pruriginosa subtype.
Acta dermato-venereologica 2009;89(1):4-5.
2009: Jennifer Remington; Xinyi Wang; Yingpin Hou; Hui Zhou; Julie Burnett; Trevor Muirhead; Jouni Uitto; Douglas R Keene; David T Woodley; Mei Chen
Injection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa.
Molecular therapy : the journal of the American Society of Gene Therapy 2009;17(1):26-33.
2009: Ilana Chefetz; Kimitoshi Kohno; Hiroto Izumi; Jouni Uitto; Gabriele Richard; Eli Sprecher
GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity.
Biochimica et biophysica acta 2009;1792(1):61-7.
2008: Yuji Katsuta; Yuki Ogura; Shunsuke Iriyama; Paul F Goetinck; John F Klement; Jouni Uitto; Satoshi Amano
Fibulin-5 accelerates elastic fibre assembly in human skin fibroblasts.
Experimental dermatology 2008;17(10):837-42.
2008: Hye Jin Chung; Andrzej Steplewski; Kee Yang Chung; Jouni Uitto; Andrzej Fertala
Collagen fibril formation. A new target to limit fibrosis.
The Journal of biological chemistry 2008;283(38):25879-86.
2008: Jouni Uitto
Epidermolysis bullosa: prospects for cell-based therapies.
The Journal of investigative dermatology 2008;128(9):2140-2.
2008: Takenao Chino; Katsuto Tamai; Takehiko Yamazaki; Satoru Otsuru; Yasushi Kikuchi; Keisuke Nimura; Masayuki Endo; Miki Nagai; Jouni Uitto; Yasuo Kitajima; Yasufumi Kaneda
Bone marrow cell transfer into fetal circulation can ameliorate genetic skin diseases by providing fibroblasts to the skin and inducing immune tolerance.
The American journal of pathology 2008;173(3):803-14.
2008: Takayuki Aizu; Katsuto Tamai; Hajime Nakano; Daiki Rokunohe; Yuka Toyomaki; Jouni Uitto; Daisuke Sawamura
Calcineurin/NFAT-dependent regulation of 230-kDa bullous pemphigoid antigen (BPAG1) gene expression in normal human epidermal keratinocytes.
Journal of dermatological science 2008;51(1):45-51.
2008: Jo-David Fine; Robin A J Eady; Eugene A Bauer; Johann W Bauer; Leena Bruckner-Tuderman; Adrian Heagerty; Helmut Hintner; Alain Hovnanian; Marcel F Jonkman; Irene Leigh; John A McGrath; Jemima E Mellerio; Dédée F Murrell; Hiroshi Shimizu; Jouni Uitto; Anders Vahlquist; David Woodley; Giovanna Zambruno
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB.
Journal of the American Academy of Dermatology 2008;58(6):931-50.
2008: Ilana Chefetz; Danny Ben Amitai; Sarah Browning; Karl Skorecki; Noam Adir; Mark Thomas; Larissa Kogleck; Orit Topaz; Margarita Indelman; Jouni Uitto; Gabriele Richard; Neil Bradman; Eli Sprecher
Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.
The Journal of investigative dermatology 2008;128(6):1423-9.
2008: Olga Igoucheva; Aislinn Kelly; Jouni Uitto; Vitali Alexeev
Protein therapeutics for junctional epidermolysis bullosa: incorporation of recombinant beta3 chain into laminin 332 in beta3-/- keratinocytes in vitro.
The Journal of investigative dermatology 2008;128(6):1476-86.
2008: Jennie Lugassy; John A McGrath; Peter H Itin; Revital Shemer; Julian Verbov; Helen R Murphy; Akemi Ishida-Yamamoto; John J DiGiovanna; Dani Bercovich; Nathan Karin; Alon Vitenshtein; Jouni Uitto; Reuven Bergman; Gabriele Richard; Eli Sprecher
KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.
The Journal of investigative dermatology 2008;128(6):1517-24.
2008: Qiaoli Li; Qiujie Jiang; Jouni Uitto
Pseudoxanthoma elasticum: oxidative stress and antioxidant diet in a mouse model (Abcc6-/-).
The Journal of investigative dermatology 2008;128(5):1160-4.
2008: Koji Nakajima; Katsuto Tamai; Takehiko Yamazaki; Yuka Toyomaki; Hajime Nakano; Jouni Uitto; Daisuke Sawamura
Identification of Skn-1n, a splice variant induced by high calcium concentration and specifically expressed in normal human keratinocytes.
The Journal of investigative dermatology 2008;128(5):1336-9.
2008: Sarah Weinel; Anne W Lucky; Jouni Uitto; Ellen G Pfendner; Daniel Choo
Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafness.
Pediatric dermatology 2008;25(2):210-4.
2008: Jennifer LaRusso; Qiujie Jiang; Qiaoli Li; Jouni Uitto
Ectopic mineralization of connective tissue in Abcc6-/- mice: effects of dietary modifications and a phosphate binder--a preliminary study.
Experimental dermatology 2008;17(3):203-7.
2008: Jouni Uitto
The role of elastin and collagen in cutaneous aging: intrinsic aging versus photoexposure.
Journal of drugs in dermatology : JDD 2008;7(2 Suppl):s12-6.
2008: Que N Van; Haleem J Issaq; Qiujie Jiang; Qiaoli Li; Gary M Muschik; Timothy J Waybright; Hong Lou; Michael Dean; Jouni Uitto; Timothy D Veenstra
Comparison of 1D and 2D NMR spectroscopy for metabolic profiling.
Journal of proteome research 2008;7(2):630-9.
2008: Ellen Pfendner; Gary F Gerard; Jouni Uitto; Sharon F Terry
Pseudoxanthoma elasticum: genetic diagnostic markers.
Expert opinion on medical diagnostics 2008;2(1):63-79.
2008: Olivier M Vanakker; Bart P Leroy; Paul Coucke; Lionel Bercovitch; Jouni Uitto; Dennis Viljoen; Sharon F Terry; Petra Van Acker; Dirk Matthys; Bart Loeys; Anne De Paepe
Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.
Human mutation 2008;29(1):205.
2008: John A McGrath; Jouni Uitto
The filaggrin story: novel insights into skin-barrier function and disease.
Trends in molecular medicine 2008;14(1):20-7.
2007: Lisa M Sevilla; Rachida Nachat; Karen R Groot; John F Klement; Jouni Uitto; Philippe Djian; Arto Määttä; Fiona M Watt
Mice deficient in involucrin, envoplakin, and periplakin have a defective epidermal barrier.
The Journal of cell biology 2007;179(7):1599-612.
2007: Qiaoli Li; Qiujie Jiang; Leon J Schurgers; Jouni Uitto
Pseudoxanthoma elasticum: reduced gamma-glutamyl carboxylation of matrix gla protein in a mouse model (Abcc6-/-).
Biochemical and biophysical research communications 2007;364(2):208-13.
2007: Masako Kawachi; Katsuto Tamai; Kotaro Saga; Takehiko Yamazaki; Hiroshi Fujita; Takashi Shimbo; Yasushi Kikuchi; Keisuke Nimura; Koji Nishifuji; Masayuki Amagai; Jouni Uitto; Yasufumi Kaneda
Development of tissue-targeting hemagglutinating virus of Japan envelope vector for successful delivery of therapeutic gene to mouse skin.
Human gene therapy 2007;18(10):881-94.
2007: Ulrich Rodeck; Jouni Uitto
Recessive dystrophic epidermolysis bullosa-associated squamous-cell carcinoma: an enigmatic entity with complex pathogenesis.
The Journal of investigative dermatology 2007;127(10):2295-6.
2007: Qiaoli Li; Qiujie Jiang; Jennifer Larusso; John F Klement; Alan C Sartorelli; Martin G Belinsky; Gary Kruh; Jouni Uitto
Targeted ablation of Abcc1 or Abcc3 in Abcc6(-/-) mice does not modify the ectopic mineralization process.
Experimental dermatology 2007;16(10):853-9.
2007: Ellen Pfendner; Olivier M Vanakker; Sharon F Terry; Sophia Vourthis; Patricia E McAndrew; Monica R McClain; Sarah Fratta; Anna-Susan Marais; Susan Hariri; Paul J Coucke; Michele Ramsay; Denis L Viljoen; Patrick F Terry; Anne De Paepe; Jouni Uitto; Lionel Bercovitch
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.
Journal of medical genetics 2007;44(10):621-8.
2007: Dédée F Murrell; Anna M G Pasmooij; Hendri H Pas; Penelope Marr; Sandra Klingberg; Ellen Pfendner; Jouni Uitto; Sara Sadowski; Felicity Collins; Richard Widmer; Marcel F Jonkman
Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects.
The Journal of investigative dermatology 2007;127(7):1772-5.
2007: Jouni Uitto; Gabriele Richard; John A McGrath
Diseases of epidermal keratins and their linker proteins.
Experimental cell research 2007;313(10):1995-2009.
2007: Ulrich Rodeck; Andrzej Fertala; Jouni Uitto
Anchorless keratinocyte survival: an emerging pathogenic mechanism for squamous cell carcinoma in recessive dystrophic epidermolysis bullosa.
Experimental dermatology 2007;16(6):465-7.
2007: Carol Featherstone; Jouni Uitto
Ex vivo gene therapy cures a blistering skin disease.
Trends in molecular medicine 2007;13(6):219-22.
2007: Qiujie Jiang; Qiaoli Li; Jouni Uitto
Aberrant mineralization of connective tissues in a mouse model of pseudoxanthoma elasticum: systemic and local regulatory factors.
The Journal of investigative dermatology 2007;127(6):1392-402.
2007: Jouni Uitto; Qiujie Jiang
Pseudoxanthoma elasticum-like phenotypes: more diseases than one.
The Journal of investigative dermatology 2007;127(3):507-10.
2007: Donna Brennan; Ying Hu; Sohaila Joubeh; Yoo Won Choi; Diana Whitaker-Menezes; Thomas G O'Brien; Jouni Uitto; Ulrich Rodeck; My G Mahoney
Suprabasal Dsg2 expression in transgenic mouse skin confers a hyperproliferative and apoptosis-resistant phenotype to keratinocytes.
Journal of cell science 2007;120(Pt 5):758-71.
2007: Roslyn Varki; Sara Sadowski; Jouni Uitto; Ellen Pfendner
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
Journal of medical genetics 2007;44(3):181-92.
2007: Sharon F Terry; Patrick F Terry; Katherine A Rauen; Jouni Uitto; Lionel Bercovitch
Advocacy groups as research organizations: the PXE International example.
Nature reviews. Genetics 2007;8(2):157-64.
2007: Jouni Uitto
IL-6 signaling pathway in keloids: a target for pharmacologic intervention?
The Journal of investigative dermatology 2007;127(1):6-8.
2007: James R McMillan; Masashi Akiyama; Fatima Rouan; Jemima E Mellerio; E Birgitte Lane; I M Leigh; Katsushi Owaribe; Gerhard Wiche; N Fujii; Jouni Uitto; Robin A J Eady; Hiroshi Shimizu
Plectin defects in epidermolysis bullosa simplex with muscular dystrophy.
Muscle & nerve 2007;35(1):24-35.
2006: Orit Topaz; Margarita Indelman; Ilana Chefetz; Dan Geiger; Aryeh Metzker; Yoram Altschuler; Mordechai Choder; Dani Bercovich; Jouni Uitto; Reuven Bergman; Gabriele Richard; Eli Sprecher
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.
American journal of human genetics 2006;79(4):759-64.
2006: Jennie Lugassy; Peter Itin; Akemi Ishida-Yamamoto; Kristen Holland; Susan Huson; Dan Geiger; Hans Christian Hennies; Margarita Indelman; Dani Bercovich; Jouni Uitto; Reuven Bergman; John A McGrath; Gabriele Richard; Eli Sprecher
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
American journal of human genetics 2006;79(4):724-30.
2006: R Varki; Sara Sadowski; Ellen Pfendner; Jouni Uitto
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.
Journal of medical genetics 2006;43(8):641-52.
2006: Qiujie Jiang; Jouni Uitto
Pseudoxanthoma elasticum: a metabolic disease?
The Journal of investigative dermatology 2006;126(7):1440-1.
2006: Raymond Brittingham; Jouni Uitto; Andrzej Fertala
High-affinity binding of the NC1 domain of collagen VII to laminin 5 and collagen IV.
Biochemical and biophysical research communications 2006;343(3):692-9.
2006: Takahide Kaneko; Katsuto Tamai; Yasushi Matsuzaki; Takehiko Yamazaki; Hajime Nakano; Atsushi Kon; Isao Hashimoto; Katsumi Hanada; Yasuhumi Kaneda; Jouni Uitto
Interferon-gamma down-regulates expression of the 230-kDa bullous pemphigoid antigen gene (BPAG1) in epidermal keratinocytes via novel chimeric sequences of ISRE and GAS.
Experimental dermatology 2006;15(4):308-14.
2006: Norihiro Fujimoto; Joseph Terlizzi; Sirpa Aho; Raymond Brittingham; Andrzej Fertala; Noritaka Oyama; John A McGrath; Jouni Uitto
Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions.
Experimental dermatology 2006;15(4):300-7.
2006: Judeh Abu Sa'd; Margarita Indelman; Ellen Pfendner; Tzipora C Falik-Zaccai; Mordechai Mizrachi-Koren; Stavit A Shalev; Dan Ben-Amitai; Annick Raas-Rothshild; Ayelet Adir-Shani; Zvi-Uri Borochowitz; Ruth Gershoni-Baruch; Morad Khayat; Daniela Landau; Gabriele Richard; Reuven Bergman; Jouni Uitto; Moien Kanaan; Eli Sprecher
Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.
The Journal of investigative dermatology 2006;126(4):777-81.
2006: Franziska Ringpfeil; Kelly McGuigan; Lauren Fuchsel; Heidi Kozic; Margarita Larralde; Mark Lebwohl; Jouni Uitto
Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity.
The Journal of investigative dermatology 2006;126(4):782-6.
2006: Daniel Shurman; Jacqueline Losi-Sasaki; Ronald Grimwood; Sirpa Kivirikko; Elizabeth Tichy; Jouni Uitto; Gabriele Richard
Epidermolysis Bullosa Simplex with mottled pigmentation: mutation analysis in the first reported Hispanic pedigree with the largest single generation of affected individuals to date.
European journal of dermatology : EJD 2006;16(2):132-5.
2006: Qiujie Jiang; Yasushi Matsuzaki; Kehua Li; Jouni Uitto
Transcriptional regulation and characterization of the promoter region of the human ABCC6 gene.
The Journal of investigative dermatology 2006;126(2):325-35.
2006: Nguyet M Nguyen; Leena Pulkkinen; Jessica A Schlueter; Guerrino Meneguzzi; Jouni Uitto; Robert M Senior
Lung development in laminin gamma2 deficiency: abnormal tracheal hemidesmosomes with normal branching morphogenesis and epithelial differentiation.
Respiratory research 2006;7():28.
2005: Yasushi Matsuzaki; Aoi Nakano; Qiu-Jie Jiang; Leena Pulkkinen; Jouni Uitto
Tissue-specific expression of the ABCC6 gene.
The Journal of investigative dermatology 2005;125(5):900-5.
2005: Daisuke Hata; Maki Miyazaki; Shiro Seto; Eiji Kadota; Eri Muso; Kosho Takasu; Aoi Nakano; Katsuto Tamai; Jouni Uitto; Michio Nagata; Kayano Moriyama; Kaoru Miyazaki
Nephrotic syndrome and aberrant expression of laminin isoforms in glomerular basement membranes for an infant with Herlitz junctional epidermolysis bullosa.
Pediatrics 2005;116(4):e601-7.
2005: Jouni Uitto
The Ehlers-Danlos syndrome--phenotypic spectrum and molecular genetics.
European journal of dermatology : EJD 2005;15(5):311-2.
2005: John F Klement; Yasushi Matsuzaki; Qiu-Jie Jiang; Joseph Terlizzi; Hae Young Choi; Norihiro Fujimoto; Kehua Li; Leena Pulkkinen; David E Birk; John P Sundberg; Jouni Uitto
Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues.
Molecular and cellular biology 2005;25(18):8299-310.
2005: Norihiro Fujimoto; Joseph Terlizzi; Raymond Brittingham; Andrzej Fertala; John A McGrath; Jouni Uitto
Extracellular matrix protein 1 interacts with the domain III of fibulin-1C and 1D variants through its central tandem repeat 2.
Biochemical and biophysical research communications 2005;333(4):1327-33.
2005: Ellen Pfendner; Sara Sadowski; Jouni Uitto
Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis.
The Journal of investigative dermatology 2005;125(2):239-43.
2005: Jouni Uitto
The gene family of ABC transporters--novel mutations, new phenotypes.
Trends in molecular medicine 2005;11(8):341-3.
2005: Monique Aumailley; Leena Bruckner-Tuderman; William G Carter; Rainer Deutzmann; David Edgar; Peter Ekblom; Jürgen Engel; Eva Engvall; Erhard Hohenester; Jonathan C R Jones; Hynda K Kleinman; M Peter Marinkovich; George R Martin; Ulrike Mayer; Guerrino Meneguzzi; Jeffrey H Miner; Kaoru Miyazaki; Manuel Patarroyo; Mats Paulsson; Vito Quaranta; Joshua R Sanes; Takako Sasaki; Kiyotoshi Sekiguchi; Lydia M Sorokin; Jan F Talts; Karl Tryggvason; Jouni Uitto; Ismo Virtanen; Klaus von der Mark; Ulla M Wewer; Yoshihiko Yamada; Peter D Yurchenco
A simplified laminin nomenclature.
Matrix biology : journal of the International Society for Matrix Biology 2005;24(5):326-32.
2005: Ellen Pfendner; Fatima Rouan; Jouni Uitto
Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations.
Experimental dermatology 2005;14(4):241-9.
2005: Qiu-Jie Jiang; Jouni Uitto
Animal models of epidermolysis bullosa--targets for gene therapy.
The Journal of investigative dermatology 2005;124(3):xi-xiii.
2005: Yoshie Takahashi; Fatima Rouan; Jouni Uitto; Akemi Ishida-Yamamoto; Hajime Iizuka; Katsushi Owaribe; Mizuko Tanigawa; Norito Ishii; Shinichiro Yasumoto; Takashi Hashimoto
Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy.
Journal of dermatological science 2005;37(2):87-93.
2005: Raymond Brittingham; Morgana Colombo; Hidetoshi Ito; Andrzej Steplewski; David E Birk; Jouni Uitto; Andrzej Fertala
Single amino acid substitutions in procollagen VII affect early stages of assembly of anchoring fibrils.
The Journal of biological chemistry 2005;280(1):191-8.
2005: Jouni Uitto; Gabriele Richard
Progress in epidermolysis bullosa: from eponyms to molecular genetic classification.
Clinics in dermatology 2005;23(1):33-40.
2005: Ellen Pfendner; Jouni Uitto
Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia.
The Journal of investigative dermatology 2005;124(1):111-5.
2005: Andrey E Kalinin; Alexandr E Kalinin; Mikko Aho; Jouni Uitto; Sirpa Aho
Breaking the connection: caspase 6 disconnects intermediate filament-binding domain of periplakin from its actin-binding N-terminal region.
The Journal of investigative dermatology 2005;124(1):46-55.
2004: Moetaz El-Domyati; Sameh K Attia; Fatma Y Saleh; Hesham M Ahmad; Jouni Uitto
Effect of topical tretinoin on photoaged facial skin: a histometric, immunohistochemical and ultrastructural study.
Journal of cosmetic dermatology 2004;3(4):191-201.
2004: Maiko Odanagi; Yasushi Kikuchi; Takehiko Yamazaki; Takahide Kaneko; Hajime Nakano; Katsuto Tamai; Jouni Uitto; Joani Vitto; Katsumi Hanada
Transcriptional regulation of the 230-kDa bullous pemphigoid antigen gene expression by interferon regulatory factor 1 and interferon regulatory factor 2 in normal human epidermal keratinocytes.
Experimental dermatology 2004;13(12):773-9.
2004: Jouni Uitto; Gabriele Richard
Progress in epidermolysis bullosa: genetic classification and clinical implications.
American journal of medical genetics. Part C, Seminars in medical genetics 2004;131C(1):61-74.
2004: Donna Brennan; Ying Hu; Ana Kljuic; Yoowon Choi; Sohaila Joubeh; Marisa Bashkin; James K Wahl; Andrzej Fertala; Leena Pulkkinen; Jouni Uitto; Angela M Christiano; Andrey Panteleyev; My G Mahoney
Differential structural properties and expression patterns suggest functional significance for multiple mouse desmoglein 1 isoforms.
Differentiation; research in biological diversity 2004;72(8):434-49.
2004: Jouni Uitto
Epidermolysis bullosa: the expanding mutation database.
The Journal of investigative dermatology 2004;123(4):xii-xiii.
2004: Christoph M Lanschuetzer; Alfred Klausegger; Gabriele Pohla-Gubo; Rudolf Hametner; G Richard; Jouni Uitto; Helmut Hintner; Johann W Bauer
Gene symbol: KRT14. Disease: epidermolysis bullosa simplex, Koebner.
Human genetics 2004;115(2):171.
2004: Sirpa Aho; Kehua Li; Young Ryoo; Clair McGee; Akemi Ishida-Yamamoto; Jouni Uitto; John F Klement
Periplakin gene targeting reveals a constituent of the cornified cell envelope dispensable for normal mouse development.
Molecular and cellular biology 2004;24(14):6410-8.
2004: Brandie J Metz; Sun Young Ruggeri; Sylvia Hsu; Jon A Reed; Ali S Ghohestani; Jouni Uitto; Reza F Ghohestani
Linear IgA dermatosis with IgA and IgG autoantibodies to the 180 kDa bullous pemphigoid antigen (BP180): evidence for a distinct subtype.
International journal of dermatology 2004;43(6):443-6.
2004: Jouni Uitto; Franziska Ringpfeil
Ehlers-Danlos syndrome-molecular genetics beyond the collagens.
The Journal of investigative dermatology 2004;122(4):xii-xiii.
2004: Ulrike Schara; Jens Tücke; Wilhelm Mortier; Thomas Nüsslein; Fatima Rouan; Ellen Pfendner; Detlef Zillikens; Leena Bruckner-Tuderman; Jouni Uitto; Gerhard Wiche; Rolf Schröder
Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation.
European journal of pediatrics 2004;163(4-5):218-22.
2004: Jouni Uitto
Pseudoxanthoma elasticum-a connective tissue disease or a metabolic disorder at the genome/environment interface?
The Journal of investigative dermatology 2004;122(3):ix-x.
2004: Moetaz El-Domyati; Sameh K Attia; Fatma Y Saleh; Hesham M Ahmad; Jouni Uitto
Trichloroacetic acid peeling versus dermabrasion: a histometric, immunohistochemical, and ultrastructural comparison.
Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.] 2004;30(2 Pt 1):179-88.
2003: Michael Naso; Jouni Uitto; John F Klement
Transcriptional control of the mouse Col7a1 gene in keratinocytes: basal and transforming growth factor-beta regulated expression.
The Journal of investigative dermatology 2003;121(6):1469-78.
2003: Morgana Colombo; Raymond Brittingham; John F Klement; Ireneusz Majsterek; David E Birk; Jouni Uitto; Andrzej Fertala
Procollagen VII self-assembly depends on site-specific interactions and is promoted by cleavage of the NC2 domain with procollagen C-proteinase.
Biochemistry 2003;42(39):11434-42.
2003: Xianmin Meng; John F Klement; Dominic A Leperi; David E Birk; Takako Sasaki; Rupert Timpl; Jouni Uitto; Leena Pulkkinen
Targeted inactivation of murine laminin gamma2-chain gene recapitulates human junctional epidermolysis bullosa.
The Journal of investigative dermatology 2003;121(4):720-31.
2003: Lu-Yu Hwang; Jason B Lee; Gabriele Richard; Jouni Uitto; Sylvia Hsu
Type 1 segmental manifestation of Hailey-Hailey disease.
Journal of the American Academy of Dermatology 2003;49(4):712-4.
2003: Moetaz El-Domyati; Sameh K Attia; Fatma Y Saleh; Hesham M Ahmad; Frances P Gasparro; Jouni Uitto
Effect of topical tretinoin, chemical peeling and dermabrasion on p53 expression in facial skin.
European journal of dermatology : EJD 2003;13(5):433-8.
2003: Jouni Uitto; Ellen Pfendner; Laird G Jackson
Probing the fetal genome: progress in non-invasive prenatal diagnosis.
Trends in molecular medicine 2003;9(8):339-43.
2003: Ellen Pfendner; Aoi Nakano; Leena Pulkkinen; Angela M Christiano; Jouni Uitto
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.
Prenatal diagnosis 2003;23(6):447-56.
2003: Reza F Ghohestani; Sherry L Rotunda; Billy Hudson; William J Gaughan; John L Farber; Guy Webster; Jouni Uitto
Crescentic glomerulonephritis and subepidermal blisters with autoantibodies to alpha5 and alpha6 chains of type IV collagen.
Laboratory investigation; a journal of technical methods and pathology 2003;83(5):605-11.
2003: Ana Kljuic; Hisham Bazzi; John P Sundberg; Amalia Martinez-Mir; Ryan O'Shaughnessy; My G Mahoney; Moise Levy; Xavier Montagutelli; Wasim Ahmad; Vincent M Aita; Derek Gordon; Jouni Uitto; David Whiting; Jurg Ott; Stuart Fischer; T Conrad Gilliam; Colin A B Jahoda; Rebecca J Morris; Andrey Panteleyev; Vu Thuong Nguyen; Angela M Christiano
Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris.
Cell 2003;113(2):249-60.
2003: Dan Ciubotaru; Reuven Bergman; David Baty; Margarita Indelman; Ellen Pfendner; Danny Petronius; Hannah Moualem; Moien Kanaan; Dan Ben-Amitai; W H Irwin McLean; Jouni Uitto; Eli Sprecher
Epidermolysis bullosa simplex in Israel: clinical and genetic features.
Archives of dermatology 2003;139(4):498-505.
2003: Fatima Rouan; C W Lo; Andrzej Fertala; M Wahl; M Jost; Ulrich Rodeck; Jouni Uitto; Gabriele Richard
Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro.
Experimental dermatology 2003;12(2):191-7.
2003: Shashi Kaithamana; Jilao Fan; Omeed Memar; K Li; Jouni Uitto; GS Seetharamaiah; Bellur S Prabhakar
Relevance of differential immunogenicity of human and mouse recombinant desmoglein-3 for the induction of acantholytic autoantibodies in mice.
Clinical and experimental immunology 2003;132(1):16-23.
2003: Eli Sprecher; Gil Yosipovitch; Reuven Bergman; Dan Ciubutaro; Margarita Indelman; Ellen Pfendner; Leok C Goh; Christopher J Miller; Jouni Uitto; Gabriele Richard
Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.
The Journal of investigative dermatology 2003;120(4):623-6.
2003: Gabriele Richard; Nkecha Brown; Fatima Rouan; Jan-Gerrit Van der Schroeff; Emilia Bijlsma; Lawrence F Eichenfield; Virginia P Sybert; Kenneth E Greer; Peter Hogan; Carmen Campanelli; John G Compton; Sherri J Bale; John J DiGiovanna; Jouni Uitto
Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.
The Journal of investigative dermatology 2003;120(4):601-9.
2003: Dessislava Markova; Yaqun Zou; Franziska Ringpfeil; Takako Sasaki; Günter Kostka; Rupert Timpl; Jouni Uitto; Mon-Li Chu
Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene.
American journal of human genetics 2003;72(4):998-1004.
2003: Leena Pulkkinen; Yoo Won Choi; Ana Kljuic; Jouni Uitto; My G Mahoney
Novel member of the mouse desmoglein gene family: Dsg1-beta.
Experimental dermatology 2003;12(1):11-9.
2003: Yasushi Matsuzaki; Katsuto Tamai; Atsushi Kon; Daisuke Sawamura; Jouni Uitto; Isao Hashimoto
Keratinocyte responsive element 3: analysis of a keratinocyte-specific regulatory sequence in the 230-kDa bullous pemphigoid antigen gene promoter.
The Journal of investigative dermatology 2003;120(2):308-12.
2003: Moetaz El-Domyati; Sameh K Attia; Fatma Y Saleh; Noreen Galaria; Hesham M Ahmad; Frances P Gasparro; Jouni Uitto
Expression of p53 in normal sun-exposed and protected skin (type IV-V) in different decades of age.
Acta dermato-venereologica 2003;83(2):98-104.
2003: Christoph M Lanschuetzer; Alfred Klausegger; Gabriele Pohla-Gubo; Rudolf Hametner; G Richard; Jouni Uitto; Helmut Hintner; Johann W Bauer
A novel homozygous nonsense deletion/insertion mutation in the keratin 14 gene (Y248X; 744delC/insAG) causes recessive epidermolysis bullosa simplex type Köbner.
Clinical and experimental dermatology 2003;28(1):77-9.
2002: Jouni Uitto; Leena Pulkkinen; Franziska Ringpfeil
Progress in molecular genetics of heritable skin diseases: the paradigms of epidermolysis bullosa and pseudoxanthoma elasticum.
The journal of investigative dermatology. Symposium proceedings / the Society for Investigative Dermatology, Inc. [and] European Society for Dermatological Research 2002;7(1):6-16.
2002: Leena Pulkkinen; Yoo Won Choi; Anisha Simpson; Xavier Montagutelli; John Sundberg; Jouni Uitto; My G Mahoney
Loss of cell adhesion in Dsg3bal-Pas mice with homozygous deletion mutation (2079del14) in the desmoglein 3 gene.
The Journal of investigative dermatology 2002;119(6):1237-43.
2002: Shideh Kazerounian; Jouni Uitto; Sirpa Aho
Unique role for the periplakin tail in intermediate filament association: specific binding to keratin 8 and vimentin.
Experimental dermatology 2002;11(5):428-38.
2002: Moetaz El-Domyati; Sameh K Attia; Fatma Y Saleh; D Brown; D E Birk; Frances P Gasparro; Hesham M Ahmad; Jouni Uitto
Intrinsic aging vs. photoaging: a comparative histopathological, immunohistochemical, and ultrastructural study of skin.
Experimental dermatology 2002;11(5):398-405.
2002: Eli Sprecher; Peter Itin; Neil Whittock; John A McGrath; Rudolph Meyer; John J DiGiovanna; Sherri J Bale; Jouni Uitto; Gabriele Richard
Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.
The Journal of investigative dermatology 2002;119(3):692-8.
2002: Leena Pulkkinen; Franziska Ringpfeil; Jouni Uitto
Progress in heritable skin diseases: molecular bases and clinical implications.
Journal of the American Academy of Dermatology 2002;47(1):91-104.
2002: Rolf Schröder; Wolfram S Kunz; Fatima Rouan; Ellen Pfendner; Karen Tolksdorf; Karin Kappes-Horn; Manuela Altenschmidt-Mehring; Rupert Knoblich; Peter F.M. van der Ven; Jens Reimann; Dieter O Fürst; Ingmar Blümcke; Stefan Vielhaber; Detlef Zillikens; Sabine A Eming; Thomas Klockgether; Jouni Uitto; Gerhard Wiche; Arndt Rolfs
Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy.
Journal of neuropathology and experimental neurology 2002;61(6):520-30.
2002: Jouni Uitto
Searching for clues to premature aging.
Trends in endocrinology and metabolism: TEM 2002;13(4):140-1.
2002: Gabriele Richard; Fatima Rouan; Colin Willoughby; Nkecha Brown; Pil Chung; Markku Ryynänen; Ethylin Jabs; Sherri J Bale; John J DiGiovanna; Jouni Uitto; Laura Russell
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.
American journal of human genetics 2002;70(5):1341-8.
2002: My G Mahoney; Anisha Simpson; Sirpa Aho; Jouni Uitto; Leena Pulkkinen
Interspecies conservation and differential expression of mouse desmoglein gene family.
Experimental dermatology 2002;11(2):115-25.
2002: Jouni Uitto
Searching for clues to premature aging.
Trends in molecular medicine 2002;8(4):155-7.
2002: Aoi Nakano; Gilles G Lestringant; Tamar Paperna; Reuven Bergman; Ruth Gershoni; Philippe Frossard; Moien Kanaan; Guerrino Meneguzzi; Gabriele Richard; Ellen Pfendner; Jouni Uitto; Leena Pulkkinen; Eli Sprecher
Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families.
Journal of the American Academy of Dermatology 2002;46(4):510-6.
2002: Sirpa Aho; Laura Levänsuo; Outi Montonen; Csaba Kari; Ulrich Rodeck; Jouni Uitto
Specific sequences in p120ctn determine subcellular distribution of its multiple isoforms involved in cellular adhesion of normal and malignant epithelial cells.
Journal of cell science 2002;115(Pt 7):1391-402.
2002: My G Mahoney; Anisha Simpson; Monika Jost; Mariadele Noé; Csaba Kari; Deanna Pepe; Yoo Won Choi; Jouni Uitto; Ulrich Rodeck
Metastasis-associated protein (MTA)1 enhances migration, invasion, and anchorage-independent survival of immortalized human keratinocytes.
Oncogene 2002;21(14):2161-70.
2002: Aoi Nakano; Hajime Nakano; Katsumi Hanada; Kazuo Nomura; Jouni Uitto
ZNT4 gene is not responsible for acrodermatitis enteropathica in Japanese families.
Human genetics 2002;110(2):201-2.
2002: Neil Whittock; Hong Wan; Susan M Morley; Maria C Garzon; Leonard Kristal; Patrice Hyde; W H Irwin McLean; Leena Pulkkinen; Jouni Uitto; Angela M Christiano; Robin A J Eady; John A McGrath
Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome.
The Journal of investigative dermatology 2002;118(2):232-8.
2002: Karsten Korang; Reza Ghohestani; Thomas Krieg; Jouni Uitto; Nicolas Hunzelmann
Exacerbation of pemphigus foliaceus after tetanus vaccination accompanied by synthesis of auto-antibodies against paraneoplastic pemphigus antigens.
Acta dermato-venereologica 2002;82(6):482-3.
2002: Aoi Nakano; Sheau-Chiou Chao; Leena Pulkkinen; Dédée F Murrell; Leena Bruckner-Tuderman; Ellen Pfendner; Jouni Uitto
Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.
Human genetics 2002;110(1):41-51.
2001: O Montonen; M Aho; Jouni Uitto; Sirpa Aho
Tissue distribution and cell type-specific expression of p120ctn isoforms.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2001;49(12):1487-96.
2001: Jouni Uitto; Leena Pulkkinen
Molecular genetics of heritable blistering disorders.
Archives of dermatology 2001;137(11):1458-61.
2001: Leena Pulkkinen; Aoi Nakano; Franziska Ringpfeil; Jouni Uitto
Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum.
Human genetics 2001;109(3):356-65.
2001: Reza F Ghohestani; K Li; Patricia Rousselle; Jouni Uitto
Molecular organization of the cutaneous basement membrane zone.
Clinics in dermatology 2001;19(5):551-62.
2001: H Nakano; Francis P Gasparro; Jouni Uitto
UVA-340 as energy source, mimicking natural sunlight, activates the transcription factor AP-1 in cultured fibroblasts: evidence for involvement of protein kinase-C.
Photochemistry and photobiology 2001;74(2):274-82.
2001: Eli Sprecher; Stéphane Chavanas; John J DiGiovanna; S Amin; K Nielsen; J S Prendiville; R Silverman; N B Esterly; Mary K Spraker; E Guelig; M L de Luna; M L Williams; B Buehler; Elaine Siegfried; L Van Maldergem; Ellen Pfendner; Sherri J Bale; Jouni Uitto; Alain Hovnanian; Gabriele Richard
The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.
The Journal of investigative dermatology 2001;117(2):179-87.
2001: Franziska Ringpfeil; Leena Pulkkinen; Jouni Uitto
Molecular genetics of pseudoxanthoma elasticum.
Experimental dermatology 2001;10(4):221-8.
2001: Anisha Simpson; Jouni Uitto; Ulrich Rodeck; My G Mahoney
Differential expression and subcellular distribution of the mouse metastasis-associated proteins Mta1 and Mta3.
Gene 2001;273(1):29-39.
2001: Jouni Uitto
Elastic fibre abnormalities in skin disorders: what's new?
Journal of the European Academy of Dermatology and Venereology : JEADV 2001;15(4):303-4.
2001: Franck Verrecchia; L Vindevoghel; Robert J Lechleider; Jouni Uitto; Anita B Roberts; Alain Mauviel
Smad3/AP-1 interactions control transcriptional responses to TGF-beta in a promoter-specific manner.
Oncogene 2001;20(26):3332-40.
2001: L Bruckner-Tuderman; Jouni Uitto
Progress in molecular dermatology.
Acta dermato-venereologica 2001;81(3):161-2.
2001: Fatima Rouan; Thomas W White; Nkecha Brown; A M Taylor; Tom W Lucke; David L Paul; Colin S Munro; Jouni Uitto; M B Hodgins; Gabriele Richard
trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation.
Journal of cell science 2001;114(Pt 11):2105-13.
2001: C C Ning; Sheau-Chiou Chao; Jouni Uitto; C C Shieh; J Yu-Yun Lee
Mutation analysis in the family of a Taiwanese boy with with epidermolysis bullosa simplex dowling-meara.
Journal of the Formosan Medical Association = Taiwan yi zhi 2001;100(6):407-11.
2001: Douglas B Brown; AE Peritz; Jouni Uitto; Francis P Gasparro
Ultraviolet-filtering properties of commonly used tissue cell culture plasticware.
Photodermatology, photoimmunology & photomedicine 2001;17(3):126-9.
2001: Aoi Nakano; Leena Pulkkinen; Dédée F Murrell; J Rico; Anne W Lucky; Maria C Garzon; C A Stevens; S Robertson; Ellen Pfendner; Jouni Uitto
Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations.
Pediatric research 2001;49(5):618-26.
2001: Jouni Uitto
Patient advocacy organizations partner genetic research, and forge the agenda.
Trends in molecular medicine 2001;7(4):182.
2001: DJ Kouba; H Nakano; T Nishiyama; J Kang; Jouni Uitto; Alain Mauviel
Tumor necrosis factor-alpha induces distinctive NF-kappa B signaling within human dermal fibroblasts.
The Journal of biological chemistry 2001;276(9):6214-24.
2001: E Pfendner; Jouni Uitto; Jo-David Fine
Epidermolysis bullosa carrier frequencies in the US population.
The Journal of investigative dermatology 2001;116(3):483-4.
2001: Alfred Klausegger; L Pulkkinen; Gabriele Pohla-Gubo; G Dallinger; R Puttinger; Jouni Uitto; Helmut Hintner; Johann W Bauer
Is screening of the candidate gene necessary in unrelated partners of members of families with Herlitz junctional epidermolysis bullosa?
The Journal of investigative dermatology 2001;116(3):474-5.
2001: Franziska Ringpfeil; Aoi Nakano; Jouni Uitto; Leena Pulkkinen
Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum.
American journal of human genetics 2001;68(3):642-52.
2001: Aoi Nakano; K Nomura; H Nakano; Y Ono; S LaForgia; Leena Pulkkinen; I Hashimoto; Jouni Uitto
Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C gene.
The Journal of investigative dermatology 2001;116(2):339-43.
2001: Eric F Bernstein; S K Kong; Douglas B Brown; B C Kwak; T Takeuchi; Francis P Gasparro; Jouni Uitto
The nitroxide Tempol affords protection against ultraviolet radiation in a transgenic murine fibroblast culture model of cutaneous photoaging.
Experimental dermatology 2001;10(1):55-61.
2001: M P Gras; Franck Verrecchia; Jouni Uitto; Alain Mauviel
Downregulation of human type VII collagen (COL7A1) promoter activity by dexamethasone. Identification of a glucocorticoid receptor binding region.
Experimental dermatology 2001;10(1):28-34.
2001: Franziska Ringpfeil; A Raus; John J DiGiovanna; B Korge; Wolfgang Harth; C Mazzanti; Jouni Uitto; Sherri J Bale; Gabriele Richard
Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlation.
Experimental dermatology 2001;10(1):19-27.
2001: Johann W Bauer; Fatima Rouan; Barbara Kofler; Günther A Rezniczek; I Kornacker; Wolfgang H. MUSS; Rudolf Hametner; Alfred Klausegger; A Huber; Gabriele Pohla-Gubo; Gerhard Wiche; Jouni Uitto; Helmut Hintner
A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency.
The American journal of pathology 2001;158(2):617-25.
2001: Jouni Uitto; Leena Pulkkinen; Franziska Ringpfeil
Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?
Trends in molecular medicine 2001;7(1):13-7.
2001: M T Lin; F Wang; Jouni Uitto; K Yoon
Differential expression of tissue-specific promoters by gene gun.
The British journal of dermatology 2001;144(1):34-9.
2000: Jouni Uitto; DJ Kouba
Cytokine modulation of extracellular matrix gene expression: relevance to fibrotic skin diseases.
Journal of dermatological science 2000;24 Suppl 1():S60-9.
2000: Dean S Morrell; David S Rubenstein; R A Briggaman; Jo-David Fine; L Pulkkinen; Jouni Uitto
Congenital pyloric atresia in a newborn with extensive aplasia cutis congenita and epidermolysis bullosa simplex.
The British journal of dermatology 2000;143(6):1342-3.
2000: Ronald L Moy; T S Potter; Jouni Uitto
Increased glycosaminoglycans production in sclerosing basal cell carcinoma-derived fibroblasts and stimulation of normal skin fibroblast glycosaminoglycans production by a cytokine-derived from sclerosing basal cell carcinoma.
Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.] 2000;26(11):1029-36.
2000: Jouni Uitto; Leena Pulkkinen
The genodermatoses: candidate diseases for gene therapy.
Human gene therapy 2000;11(16):2267-75.
2000: Aoi Nakano; Ellen Pfendner; I Hashimoto; Jouni Uitto
Herlitz junctional epidermolysis bullosa: novel and recurrent mutations in the LAMB3 gene and the population carrier frequency.
The Journal of investigative dermatology 2000;115(3):493-8.
2000: Douglas B Brown; AE Peritz; David L Mitchell; Stephanie Chiarello; Jouni Uitto; Francis P Gasparro
Common fluorescent sunlamps are an inappropriate substitute for sunlight.
Photochemistry and photobiology 2000;72(3):340-4.
2000: Shideh Kazerounian; My G Mahoney; Jouni Uitto; Sirpa Aho
Envoplakin and periplakin, the paraneoplastic pemphigus antigens, are also recognized by pemphigus foliaceus autoantibodies.
The Journal of investigative dermatology 2000;115(3):505-7.
2000: Yasuko Takizawa; L Pulkkinen; S C Chao; H Nakajima; Y Nakano; Hiroshi Shimizu; Jouni Uitto
Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa.
The Journal of investigative dermatology 2000;115(2):307-11.
2000: H Ishikawa; K Li; K Tamai; D Sawamura; Jouni Uitto
Cloning of the mouse desmoglein 3 gene (Dsg3): interspecies conservation within the cadherin superfamily.
Experimental dermatology 2000;9(4):229-39.
2000: Hong Wu; Z H Wang; A Yan; Stephen Lyle; Steven S Fakharzadeh; James K Wahl; Margaret J Wheelock; H Ishikawa; Jouni Uitto; Masayuki Amagai; John R Stanley
Protection against pemphigus foliaceus by desmoglein 3 in neonates.
The New England journal of medicine 2000;343(1):31-5.
2000: R Wallerstein; M L Klein; Nancy B Genieser; L Pulkkinen; Jouni Uitto
Epidermolysis bullosa, pyloric atresia, and obstructive uropathy: a report of two case reports with molecular correlation and clinical management.
Pediatric dermatology 2000;17(4):286-9.
2000: Neeraja Kambham; Nozomu Tanji; Robert L Seigle; Glen S Markowitz; L Pulkkinen; Jouni Uitto; Vivette D D'Agati
Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2000;36(1):190-6.
2000: Jouni Uitto; Leena Pulkkinen
Epidermolysis bullosa in Mexico.
International journal of dermatology 2000;39(6):433-5.
2000: Frances J D Smith; M P Fisher; E Healy; J L Rees; Jeannette Bonifas; Ervin H Epstein; E M Tan; Jouni Uitto; W H Irwin McLean
Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma.
Experimental dermatology 2000;9(3):170-7.
2000: Jo-David Fine; Robin A J Eady; E A Bauer; R A Briggaman; L Bruckner-Tuderman; Angela M Christiano; A Heagerty; H Hintner; M F Jonkman; J McGrath; J McGuire; A Moshell; H Shimizu; Gianluca Tadini; Jouni Uitto
Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa.
Journal of the American Academy of Dermatology 2000;42(6):1051-66.
2000: Reza F Ghohestani; billy hudson; Alain Claudy; Jouni Uitto
The alpha 5 chain of type IV collagen is the target of IgG autoantibodies in a novel autoimmune disease with subepidermal blisters and renal insufficiency.
The Journal of biological chemistry 2000;275(21):16002-6.
2000: Franziska Ringpfeil; Mark Lebwohl; Angela M Christiano; Jouni Uitto
Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.
Proceedings of the National Academy of Sciences of the United States of America 2000;97(11):6001-6.
2000: Julia Yu-Yun Lee; C Li; Sheau-Chiou Chao; L Pulkkinen; Jouni Uitto
A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa.
Archives of dermatological research 2000;292(4):159-63.
2000: E Sprecher; S J Bale; John J DiGiovanna; Jouni Uitto; G Richard
Netherton syndrome is not linked to 18q12, a region homologous to the murine lanceolate hair (lah) locus.
The Journal of investigative dermatology 2000;114(4):741-2.
2000: Jouni Uitto; R Eady; Jo-David Fine; M Feder; J Dart
The DEBRA International Visioning/Consensus Meeting on Epidermolysis Bullosa: summary and recommendations.
The Journal of investigative dermatology 2000;114(4):734-7.
2000: Sirpa Aho; M Buisson; T Pajunen; Young Ryoo; J F Giot; Gruffat Henri; Alain Sergeant; Jouni Uitto
Ubinuclein, a novel nuclear protein interacting with cellular and viral transcription factors.
The Journal of cell biology 2000;148(6):1165-76.
2000: Maurizio Mongiat; K Taylor; J Otto; Sirpa Aho; Jouni Uitto; John Michael Whitelock; Renato V Iozzo
The protein core of the proteoglycan perlecan binds specifically to fibroblast growth factor-7.
The Journal of biological chemistry 2000;275(10):7095-100.
2000: Gabriele Richard; Nkecha Brown; LE Smith; A Terrinoni; Gerry Melino; R M Mackie; Sherri J Bale; Jouni Uitto
The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.
Human genetics 2000;106(3):321-9.
2000: M T Lin; Leena Pulkkinen; Jouni Uitto; K Yoon
The gene gun: current applications in cutaneous gene therapy.
International journal of dermatology 2000;39(3):161-70.
2000: Fatima Rouan; Leena Pulkkinen; Guerrino Meneguzzi; S LaForgia; Patricia H Hyde; D U Kim; Gabriele Richard; Jouni Uitto
Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy.
The Journal of investigative dermatology 2000;114(2):381-7.
2000: M Kunz; Fatima Rouan; Leena Pulkkinen; H Hamm; Reinhart Jeschke; Leena Bruckner-Tuderman; Eva-B Bröcker; Gerhard Wiche; Jouni Uitto; Detlef Zillikens
Mutation reports: epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene.
The Journal of investigative dermatology 2000;114(2):376-80.
2000: L Cai; Berthold Struk; Mark D Adams; W Ji; T Haaf; HL Kang; S H Dho; X Xu; F Ringpfeil; J Nancarrow; S Zäch; L Schaen; M Stumm; T Niu; J Chung; K Lunze; B Verrecchia; lowell goldsmith; D Viljoen; Luis Figuera; W Fuchs; Mark Lebwohl; Jouni Uitto; R Richards; Daniel Hohl; Raj Kumar S Ramesar
A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure.
Journal of molecular medicine (Berlin, Germany) 2000;78(1):36-46.
2000: Laura D Corden; Ole Swensson; B Swensson; Frances J D Smith; R Rochels; Jouni Uitto; W H Irwin McLean
Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene.
Experimental eye research 2000;70(1):41-9.
2000: M T Lin; L Pulkkinen; Jouni Uitto
Cutaneous gene therapy. Principles and prospects.
Dermatologic clinics 2000;18(1):177-88, xi.
2000: T Masunaga; H Shimizu; Y Takizawa; Jouni Uitto; T Nishikawa
Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa.
The Journal of investigative dermatology 2000;114(1):204-5.
2000: Sylvia Hsu; Reza F Ghohestani; Jouni Uitto
Lichen planus pemphigoides with IgG autoantibodies to the 180 kd bullous pemphigoid antigen (type XVII collagen).
Journal of the American Academy of Dermatology 2000;42(1 Pt 1):136-41.
1999: Leena Pulkkinen; M Peter Marinkovich; H T Tran; L Lin; G Scott Herron; Jouni Uitto
Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic benign epidermolysis bullosa.
The Journal of investigative dermatology 1999;113(6):1114-8.
1999: CM Coleman; S Hannush; Seana P Covello; Frances J D Smith; Jouni Uitto; W H Irwin McLean
A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy.
American journal of ophthalmology 1999;128(6):687-91.
1999: Frances J D Smith; M Del Monaco; Peter M Steijlen; Colin S Munro; M Morvay; CM Coleman; F J Rietveld; Jouni Uitto; W H Irwin McLean
Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1.
The British journal of dermatology 1999;141(6):1010-6.
1999: Hiroshi Shimizu; Yasuko Takizawa; L Pulkkinen; S Murata; M Kawai; H Hachisuka; M Udono; Jouni Uitto; Takeji Nishikawa
Epidermolysis bullosa simplex associated with muscular dystrophy: phenotype-genotype correlations and review of the literature.
Journal of the American Academy of Dermatology 1999;41(6):950-6.
1999: S Heinonen; M Männikkö; John F Klement; Diana Whitaker-Menezes; George F Murphy; Jouni Uitto
Targeted inactivation of the type VII collagen gene (Col7a1) in mice results in severe blistering phenotype: a model for recessive dystrophic epidermolysis bullosa.
Journal of cell science 1999;112 ( Pt 21)():3641-8.
1999: Hiroshi Shimizu; Takuji Masunaga; Y Kurihara; Katsushi Owaribe; Gerhard Wiche; L Pulkkinen; Jouni Uitto; Takeji Nishikawa
Expression of plectin and HD1 epitopes in patients with epidermolysis bullosa simplex associated with muscular dystrophy.
Archives of dermatological research 1999;291(10):531-7.
1999: Sirpa Kivirikko; Alain Mauviel; T Pihlajaniemi; Jouni Uitto
Cytokine modulation of type XV collagen gene expression in human dermal fibroblast cultures.
Experimental dermatology 1999;8(5):407-12.
1999: Frances J D Smith; Victor A McKusick; K Nielsen; E Pfendner; Jouni Uitto; W H Irwin McLean
Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1.
Prenatal diagnosis 1999;19(10):941-6.
1999: Stéphane Chavanas; Yannick Gache; J Vailly; J Kanitakis; L Pulkkinen; Jouni Uitto; Jean-Paul Ortonne; Guerrino Meneguzzi
Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing.
Human molecular genetics 1999;8(11):2097-105.
1999: Sirpa Aho; My G Mahoney; Jouni Uitto
Plectin serves as an autoantigen in paraneoplastic pemphigus.
The Journal of investigative dermatology 1999;113(3):422-3.
1999: Maurice A M van Steensel; Frances J D Smith; Peter M Steijlen; Irma Kluijt; Howard P Stevens; AG Messenger; Hannie Kremer; M G Dunnill; C Kennedy; Colin S Munro; V R Doherty; John A McGrath; Seana P Covello; CM Coleman; Jouni Uitto; W H Irwin McLean
The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing.
American journal of human genetics 1999;65(2):413-9.
1999: Katsuto Tamai; T Murai; M Mayama; A Kon; K Nomura; Daisuke Sawamura; Katsumi Hanada; I Hashimoto; H Shimizu; T Masunaga; T Nishikawa; Y Mitsuhashi; A Ishida-Yamamoto; S Ikeda; H Ogawa; J A McGrath; L Pulkkinen; Jouni Uitto
Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: positional effects of premature termination codon mutations on clinical severity. Japanese Collaborative Study Group on Epidermolysis Bullosa.
The Journal of investigative dermatology 1999;112(6):991-3.
1999: Sirpa Aho; K Rothenberger; Jouni Uitto
Human p120ctn catenin: tissue-specific expression of isoforms and molecular interactions with BP180/type XVII collagen.
Journal of cellular biochemistry 1999;73(3):390-9.
1999: H Carlos Nousari; R Deterding; H Wojtczack; Sirpa Aho; Jouni Uitto; T Hashimoto; Grant J Anhalt
The mechanism of respiratory failure in paraneoplastic pemphigus.
The New England journal of medicine 1999;340(18):1406-10.
1999: Marcel F Jonkman; G Moreno; Fatima Rouan; A P Oranje; Leena Pulkkinen; Jouni Uitto
Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1).
The Journal of investigative dermatology 1999;112(5):815-7.
1999: Angela M Christiano; J Crollick; S Pincus; Jouni Uitto
Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study.
Experimental dermatology 1999;8(2):146-52.
1999: Isao Hashimoto; Atsushi Kon; Katsuto Tamai; Jouni Uitto
Diagnostic dilemma of "sporadic" cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?
Experimental dermatology 1999;8(2):140-2.
1999: Frances J D Smith; KE McKenna; Alan D Irvine; EA Bingham; CM Coleman; Jouni Uitto; W H Irwin McLean
A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1.
Experimental dermatology 1999;8(2):109-14.
1999: Jouni Uitto
Molecular diagnostics of epidermolysis bullosa: novel pathomechanisms and surprising genetics.
Experimental dermatology 1999;8(2):92-5.
1999: DJ Kouba; K Y Chung; T Nishiyama; L Vindevoghel; A Kon; John F Klement; Jouni Uitto; Alain Mauviel
Nuclear factor-kappa B mediates TNF-alpha inhibitory effect on alpha 2(I) collagen (COL1A2) gene transcription in human dermal fibroblasts.
Journal of immunology (Baltimore, Md. : 1950) 1999;162(7):4226-34.
1999: A Kon; L Vindevoghel; DJ Kouba; Y Fujimura; Jouni Uitto; Alain Mauviel
Cooperation between SMAD and NF-kappaB in growth factor regulated type VII collagen gene expression.
Oncogene 1999;18(10):1837-44.
1999: CM Coleman; Colin S Munro; Frances J D Smith; Jouni Uitto; W H Irwin McLean
Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif.
The British journal of dermatology 1999;140(3):486-90.
1999: Sirpa Aho; K Rothenberger; EM Tan; Young Ryoo; B H Cho; W H Irwin McLean; Jouni Uitto
Human periplakin: genomic organization in a clonally unstable region of chromosome 16p with an abundance of repetitive sequence elements.
Genomics 1999;56(2):160-8.
1999: Sirpa Aho; Jouni Uitto
180-kD bullous pemphigoid antigen/type XVII collagen: tissue-specific expression and molecular interactions with keratin 18.
Journal of cellular biochemistry 1999;72(3):356-67.
1999: Leena Pulkkinen; Jouni Uitto
Mutation analysis and molecular genetics of epidermolysis bullosa.
Matrix biology : journal of the International Society for Matrix Biology 1999;18(1):29-42.
1999: Johann W Bauer; S Ortiz; M Hengstschläger; L Pulkkinen; Jouni Uitto; Helmut Hintner; Klemens Rappersberger
[Prenatal diagnosis of recessive hereditary dystrophic epidermolysis bullosa with haplotype analysis of the type VII collagen gene].
Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete 1999;50(2):121-6.
1999: Jouni Lakkakorpi; K Li; Sylvia Decker; E Korkeela; Ronald Piddington; William Abrams; M Bashir; Jouni Uitto; Joel Rosenbloom
Expression of the elastin promoter in novel tissue sites in transgenic mouse embryos.
Connective tissue research 1999;40(2):155-62.
1999: Jouni Uitto
Heritable connective tissue disorders.
Advances in experimental medicine and biology 1999;455():15-21.
1999: Yasuko Takizawa; Hiroshi Shimizu; Fatima Rouan; M Kawai; M Udono; L Pulkkinen; Takeji Nishikawa; Jouni Uitto
Four novel plectin gene mutations in Japanese patients with epidermolysis bullosa with muscular dystrophy disclosed by heteroduplex scanning and protein truncation tests.
The Journal of investigative dermatology 1999;112(1):109-12.
1998: L Vindevoghel; Robert J Lechleider; A Kon; Mark de Caestecker; Jouni Uitto; Anita B Roberts; Alain Mauviel
SMAD3/4-dependent transcriptional activation of the human type VII collagen gene (COL7A1) promoter by transforming growth factor beta.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(25):14769-74.
1998: L Pulkkinen; Jouni Uitto
Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa.
The Journal of investigative dermatology 1998;111(6):1244-6.
1998: Y Takizawa; H Shimizu; L Pulkkinen; K Suzumori; H Kakinuma; Jouni Uitto; T Nishikawa
Combination of a novel frameshift mutation (1929delCA) and a recurrent nonsense mutation (W610X) of the LAMB3 gene in a Japanese patient with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.
The Journal of investigative dermatology 1998;111(6):1239-41.
1998: Y Takizawa; H Shimizu; L Pulkkinen; S Nonaka; T Kubo; Y Kado; T Nishikawa; Jouni Uitto
Novel premature termination codon mutations in the laminin gamma2-chain gene (LAMC2) in Herlitz junctional epidermolysis bullosa.
The Journal of investigative dermatology 1998;111(6):1233-4.
1998: Fatima Rouan; Leena Pulkkinen; Marcel F Jonkman; Johann W Bauer; P B Cserhalmi-Friedman; Angela M Christiano; Jouni Uitto
Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.
The Journal of investigative dermatology 1998;111(6):1210-3.
1998: Seana P Covello; Alan D Irvine; KE McKenna; Colin S Munro; NC Nevin; Frances J D Smith; Jouni Uitto; W H Irwin McLean
Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland.
The Journal of investigative dermatology 1998;111(6):1207-9.
1998: Evelyn Santana; AE Peritz; S Iyer; Jouni Uitto; Kyonggeun Yoon
Different frequency of gene targeting events by the RNA-DNA oligonucleotide among epithelial cells.
The Journal of investigative dermatology 1998;111(6):1172-7.
1998: Jemima E Mellerio; L Pulkkinen; James R McMillan; BD Lake; Helen M Horn; Michael J Tidman; John I Harper; John A McGrath; Jouni Uitto; Robin A J Eady
Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease.
The British journal of dermatology 1998;139(5):862-71.
1998: Hiroshi Shimizu; Yasuko Takizawa; L Pulkkinen; J J Zone; K Matsumoto; T Saida; Jouni Uitto; Takeji Nishikawa
The 97 kDa linear IgA bullous dermatosis antigen is not expressed in a patient with generalized atrophic benign epidermolysis bullosa with a novel homozygous G258X mutation in COL17A1.
The Journal of investigative dermatology 1998;111(5):887-92.
1998: Frances J D Smith; C Maingi; Seana P Covello; C Higgins; M Schmidt; E B Lane; Jouni Uitto; I M Leigh; W H Irwin McLean
Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens.
The Journal of investigative dermatology 1998;111(5):817-21.
1998: Leena Pulkkinen; Fatima Rouan; Leena Bruckner-Tuderman; R Wallerstein; Maria C Garzon; T Brown; L Smith; W Carter; Jouni Uitto
Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.
American journal of human genetics 1998;63(5):1376-87.
1998: Sirpa Aho; Jouni Uitto
Two-hybrid analysis reveals multiple direct interactions for thrombospondin 1.
Matrix biology : journal of the International Society for Matrix Biology 1998;17(6):401-12.
1998: Seana P Covello; Frances J D Smith; J H Sillevis Smitt; A S Paller; Colin S Munro; M F Jonkman; Jouni Uitto; W H Irwin McLean
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.
The British journal of dermatology 1998;139(3):475-80.
1998: Leena Pulkkinen; P B Cserhalmi-Friedman; M Tang; M C Ryan; Jouni Uitto; Angela M Christiano
Molecular analysis of the human laminin alpha3a chain gene (LAMA3a): a strategy for mutation identification and DNA-based prenatal diagnosis in Herlitz junctional epidermolysis bullosa.
Laboratory investigation; a journal of technical methods and pathology 1998;78(9):1067-76.
1998: A Kon; Leena Pulkkinen; Akemi Ishida-Yamamoto; I Hashimoto; Jouni Uitto
Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.
The Journal of investigative dermatology 1998;111(3):534-7.
1998: Jouni Uitto; Eric F Bernstein
Molecular mechanisms of cutaneous aging: connective tissue alterations in the dermis.
The journal of investigative dermatology. Symposium proceedings / the Society for Investigative Dermatology, Inc. [and] European Society for Dermatological Research 1998;3(1):41-4.
1998: My G Mahoney; Sirpa Aho; Jouni Uitto; John R Stanley
The members of the plakin family of proteins recognized by paraneoplastic pemphigus antibodies include periplakin.
The Journal of investigative dermatology 1998;111(2):308-13.
1998: Leena Pulkkinen; Marcel F Jonkman; John A McGrath; A Kuijpers; A S Paller; Jouni Uitto
LAMB3 mutations in generalized atrophic benign epidermolysis bullosa: consequences at the mRNA and protein levels.
Laboratory investigation; a journal of technical methods and pathology 1998;78(7):859-67.
1998: Frances J D Smith; M F Jonkman; H van Goor; CM Coleman; Seana P Covello; Jouni Uitto; W H Irwin McLean
A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.
Human molecular genetics 1998;7(7):1143-8.
1998: L Vindevoghel; A Kon; Robert J Lechleider; Jouni Uitto; Anita B Roberts; Alain Mauviel
Smad-dependent transcriptional activation of human type VII collagen gene (COL7A1) promoter by transforming growth factor-beta.
The Journal of biological chemistry 1998;273(21):13053-7.
1998: Jouni Uitto; Charles D Boyd; Mark Lebwohl; A N Moshell; Joel Rosenbloom; Sharon F Terry
International Centennial Meeting on Pseudoxanthoma Elasticum: progress in PXE research.
The Journal of investigative dermatology 1998;110(5):840-2.
1998: Y Takizawa; Leena Pulkkinen; H Shimizu; L Lin; S Hagiwara; T Nishikawa; Jouni Uitto
Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa.
The Journal of investigative dermatology 1998;110(5):828-31.
1998: Leena Pulkkinen; Jouni Uitto
Hemidesmosomal variants of epidermolysis bullosa. Mutations in the alpha6beta4 integrin and the 180-kD bullous pemphigoid antigen/type XVII collagen genes.
Experimental dermatology 1998;7(2-3):46-64.
1998: Leena Pulkkinen; Leena Bruckner-Tuderman; C August; Jouni Uitto
Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia.
The American journal of pathology 1998;152(4):935-41.
1998: T Takeuchi; Jouni Uitto; Eric F Bernstein
A novel in vivo model for evaluating agents that protect against ultraviolet A-induced photoaging.
The Journal of investigative dermatology 1998;110(4):343-7.
1998: K Higashi; DJ Kouba; Y J Song; Jouni Uitto; Alain Mauviel
A proximal element within the human alpha 2(I) collagen (COL1A2) promoter, distinct from the tumor necrosis factor-alpha response element, mediates transcriptional repression by interferon-gamma.
Matrix biology : journal of the International Society for Matrix Biology 1998;16(8):447-56.
1998: Sirpa Aho; W H Irwin McLean; Kehua Li; Jouni Uitto
cDNA cloning, mRNA expression, and chromosomal mapping of human and mouse periplakin genes.
Genomics 1998;48(2):242-7.
1998: Sirpa Aho; Jouni Uitto
Direct interaction between the intracellular domains of bullous pemphigoid antigen 2 (BP180) and beta 4 integrin, hemidesmosomal components of basal keratinocytes.
Biochemical and biophysical research communications 1998;243(3):694-9.
1998: M Dang; Leena Pulkkinen; F J Smith; W H Irwin McLean; Jouni Uitto
Novel compound heterozygous mutations in the plectin gene in epidermolysis bullosa with muscular dystrophy and the use of protein truncation test for detection of premature termination codon mutations.
Laboratory investigation; a journal of technical methods and pathology 1998;78(2):195-204.
1998: Yasuko Takizawa; Hiroshi Shimizu; L Pulkkinen; Y Hiraoka; J A McGrath; K Suzumori; S Aiso; Jouni Uitto; Takeji Nishikawa
Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.
The Journal of investigative dermatology 1998;110(2):174-8.
1998: Thomas Darling; Carole Yee; B Koh; J A McGrath; Johann W Bauer; Jouni Uitto; Helmut Hintner; Kim B Yancey
Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa.
The Journal of investigative dermatology 1998;110(2):165-9.
1998: A Kon; Leena Pulkkinen; M Hara; K Tamai; H Tagami; I Hashimoto; Jouni Uitto
Laminin 5 genes and Herlitz junctional epidermolysis bullosa: novel mutations and polymorphisms in the LAMB3 and LAMC2 genes. Mutations in brief no. 190. Online.
Human mutation 1998;12(4):288.
1998: Leena Pulkkinen; D U Kim; Jouni Uitto
Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4).
The American journal of pathology 1998;152(1):157-66.
1997: Angela M Christiano; Jo-David Fine; Jouni Uitto
Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: a splice site mutation in the type VII collagen gene.
The Journal of investigative dermatology 1997;109(6):811-4.
1997: Jouni Uitto
Dohi memorial lecture. Clinical implications of basic research on heritable skin diseases.
The Journal of dermatology 1997;24(11):690-700.
1997: Eric F Bernstein; Douglas B Brown; T Takeuchi; S K Kong; Jouni Uitto
Evaluation of sunscreens with various sun protection factors in a new transgenic mouse model of cutaneous photoaging that measures elastin promoter activation.
Journal of the American Academy of Dermatology 1997;37(5 Pt 1):725-9.
1997: A Kon; K Nomura; Leena Pulkkinen; D Sawamura; I Hashimoto; Jouni Uitto
Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic.
The Journal of investigative dermatology 1997;109(5):684-7.
1997: Leena Pulkkinen; Florencia Bullrich; P Czarnecki; L Weiss; Jouni Uitto
Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa.
American journal of human genetics 1997;61(3):611-9.
1997: Hiroshi Shimizu; M Sato; M Ban; Y Kitajima; S Ishizaki; T Harada; L Bruckner-Tuderman; Jo-David Fine; R Burgeson; A Kon; J A McGrath; A M Christiano; Jouni Uitto; Takeji Nishikawa
Immunohistochemical, ultrastructural, and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa.
Archives of dermatology 1997;133(9):1111-7.
1997: Angela M Christiano; S Amano; Lawrence F Eichenfield; R E Burgeson; Jouni Uitto
Premature termination codon mutations in the type VII collagen gene in recessive dystrophic epidermolysis bullosa result in nonsense-mediated mRNA decay and absence of functional protein.
The Journal of investigative dermatology 1997;109(3):390-4.
1997: Eric F Bernstein; C B Underhill; Jouni Lakkakorpi; C M Ditre; Jouni Uitto; R J Yu; E V Scott
Citric acid increases viable epidermal thickness and glycosaminoglycan content of sun-damaged skin.
Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.] 1997;23(8):689-94.
1997: Jemima E Mellerio; MG Dunnill; W Allison; G H S Ashton; A M Christiano; Jouni Uitto; Robin A J Eady; John A McGrath
Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa.
The Journal of investigative dermatology 1997;109(2):246-9.
1997: Leena Pulkkinen; Guerrino Meneguzzi; John A McGrath; Y Xu; C Blanchet-Bardon; J P Ortonne; Angela M Christiano; Jouni Uitto
Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy.
The Journal of investigative dermatology 1997;109(2):232-7.
1997: Stéphane Chavanas; Yannick Gache; Gianluca Tadini; L Pulkkinen; Jouni Uitto; Jean-Paul Ortonne; Guerrino Meneguzzi
A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa.
The Journal of investigative dermatology 1997;109(1):74-8.
1997: PJ Koch; My G Mahoney; H Ishikawa; Leena Pulkkinen; Jouni Uitto; L Shultz; George F Murphy; Diana Whitaker-Menezes; John R Stanley
Targeted disruption of the pemphigus vulgaris antigen (desmoglein 3) gene in mice causes loss of keratinocyte cell adhesion with a phenotype similar to pemphigus vulgaris.
The Journal of cell biology 1997;137(5):1091-102.
1997: Patrizia Teofoli; K Motoki; Torello Lotti; Jouni Uitto; Alain Mauviel
Propiomelanocortin (POMC) gene expression by normal skin and keloid fibroblasts in culture: modulation by cytokines.
Experimental dermatology 1997;6(3):111-5.
1997: J R McMillan; John A McGrath; L Pulkkinen; A Kon; R E Burgeson; J P Ortonne; G Meneguzzi; Jouni Uitto; Robin A J Eady
Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation.
The British journal of dermatology 1997;136(6):817-22.
1997: Leena Pulkkinen; K Kurtz; Y Xu; Leena Bruckner-Tuderman; Jouni Uitto
Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia.
Laboratory investigation; a journal of technical methods and pathology 1997;76(6):823-33.
1997: Y Takizawa; H Shimizu; T Nishikawa; N Hatta; Leena Pulkkinen; Jouni Uitto
Novel ITGB4 mutations in a patient with junctional epidermolysis bullosa-pyloric atresia syndrome and altered basement membrane zone immunofluorescence for the alpha6beta4 integrin.
The Journal of investigative dermatology 1997;108(6):943-6.
1997: M Del Monaco; S P Covello; S H Kennedy; G Gilinger; Gerald Litwack; Jouni Uitto
Identification of novel glucocorticoid-response elements in human elastin promoter and demonstration of nucleotide sequence specificity of the receptor binding.
The Journal of investigative dermatology 1997;108(6):938-42.
1997: Alan D Irvine; Laura D Corden; Ole Swensson; B Swensson; J E Moore; D G Frazer; Frances J D Smith; R G Knowlton; E Christophers; R Rochels; Jouni Uitto; W H Irwin McLean
Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy.
Nature genetics 1997;16(2):184-7.
1997: G H S Ashton; Jemima E Mellerio; MG Dunnill; L Pulkkinen; A M Christiano; Jouni Uitto; Robin A J Eady; John A McGrath
A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele.
The British journal of dermatology 1997;136(5):674-7.
1997: Leena Pulkkinen; V E Kimonis; Y Xu; E N Spanou; W H Irwin McLean; Jouni Uitto
Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia.
Human molecular genetics 1997;6(5):669-74.
1997: L Vindevoghel; K Y Chung; A Davis; DJ Kouba; Sirpa Kivirikko; Hansjuerg Alder; Jouni Uitto; Alain Mauviel
A GT-rich sequence binding the transcription factor Sp1 is crucial for high expression of the human type VII collagen gene (COL7A1) in fibroblasts and keratinocytes.
The Journal of biological chemistry 1997;272(15):10196-204.
1997: Angela M Christiano; Leena Pulkkinen; John A McGrath; Jouni Uitto
Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa.
Prenatal diagnosis 1997;17(4):343-54.
1997: Thomas Darling; J A McGrath; Carole Yee; B Gatalica; Rudolf Hametner; Johann W Bauer; Gabriele Pohla-Gubo; A M Christiano; Jouni Uitto; Helmut Hintner; Kim B Yancey
Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa.
The Journal of investigative dermatology 1997;108(4):463-8.
1997: Marcel F Jonkman; Hans Scheffer; Rein P Stulp; Hendri H Pas; Miranda Nijenhuis; K Heeres; K Owaribe; Leena Pulkkinen; Jouni Uitto
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion.
Cell 1997;88(4):543-51.
1997: Renato V Iozzo; J Pillarisetti; B Sharma; A D Murdoch; Keith G Danielson; Jouni Uitto; Alain Mauviel
Structural and functional characterization of the human perlecan gene promoter. Transcriptional activation by transforming growth factor-beta via a nuclear factor 1-binding element.
The Journal of biological chemistry 1997;272(8):5219-28.
1997: Hiroshi Shimizu; Yasuko Takizawa; J A McGrath; L Pulkkinen; A M Christiano; Jouni Uitto; R E Burgeson; K Iwatsuki; N Niimi; M Noguchi; S Imayama; Y Abe; Y Shirakata; S Hagiwara; T Saida; H Ogawa; I Hashimoto; Takeji Nishikawa
Absence of R42X and R635X mutations in the LAMB3 gene in 12 Japanese patients with junctional epidermolysis bullosa.
Archives of dermatological research 1997;289(3):174-6.
1997: K Motoki; Mosaad Megahed; S LaForgia; Jouni Uitto
Cloning and chromosomal mapping of mouse ladinin, a novel basement membrane zone component.
Genomics 1997;39(3):323-30.
1997: Leena Pulkkinen; J McGrath; T Airenne; H Haakana; K Tryggvason; S Kivirikko; G Meneguzzi; J P Ortonne; Angela M Christiano; Jouni Uitto
Detection of novel LAMC2 mutations in Herlitz junctional epidermolysis Bullosa.
Molecular medicine (Cambridge, Mass.) 1997;3(2):124-35.
1997: Katsuto Tamai; A Ishida-Yamamoto; S Matsuo; H Iizuka; I Hashimoto; A M Christiano; Jouni Uitto; J A McGrath
Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa.
Laboratory investigation; a journal of technical methods and pathology 1997;76(2):209-17.
1997: B Gatalica; Leena Pulkkinen; K Li; K Kuokkanen; Markku Ryynänen; John A McGrath; Jouni Uitto
Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa.
American journal of human genetics 1997;60(2):352-65.
1997: A Kon; John A McGrath; Leena Pulkkinen; K Nomura; T Nakamura; Y Maekawa; Angela M Christiano; I Hashimoto; Jouni Uitto
Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.
The Journal of investigative dermatology 1997;108(2):224-8.
1997: Angela M Christiano; Guy G Hoffman; X Zhang; Y Xu; Y Tamai; Daniel S Greenspan; Jouni Uitto
Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa.
Human mutation 1997;10(5):408-14.
1997: A Järvikallio; Leena Pulkkinen; Jouni Uitto
Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1).
Human mutation 1997;10(5):338-47.
1996: Jouni Uitto; Robert E Burgeson; Angela M Christiano; A N Moshell
Symposium on Epidermolysis Bullosa: Molecular Genetics of the Cutaneous Basement Membrane Zone, Jefferson Medical College, Philadelphia, Pennsylvania, April 29 and 30, 1996.
The Journal of investigative dermatology 1996;107(5):787-8.
1996: S A Silos; K Tamai; K Li; Sirpa Kivirikko; DJ Kouba; Angela M Christiano; Jouni Uitto
Cloning of the gene for human pemphigus vulgaris antigen (desmoglein 3), a desmosomal cadherin. Characterization of the promoter region and identification of a keratinocyte-specific cis-element.
The Journal of biological chemistry 1996;271(29):17504-11.
1996: W H Irwin McLean; L Pulkkinen; Frances J D Smith; Elizabeth L Rugg; E Birgitte Lane; Florencia Bullrich; R E Burgeson; S Amano; D L Hudson; Katsushi Owaribe; J A McGrath; James R McMillan; Robin A J Eady; Irene M Leigh; Angela M Christiano; Jouni Uitto
Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.
Genes & development 1996;10(14):1724-35.
1996: Angela M Christiano; B J Bart; E H Epstein; Jouni Uitto
Genetic basis of Bart's syndrome: a glycine substitution mutation in the type VII collagen gene.
The Journal of investigative dermatology 1996;106(6):1340-2.
1996: Sirpa Kivirikko; K Li; Angela M Christiano; Jouni Uitto
Cloning of mouse type VII collagen reveals evolutionary conservation of functional protein domains and genomic organization.
The Journal of investigative dermatology 1996;106(6):1300-6.
1996: J A McGrath; B Gatalica; K Li; M G Dunnill; James R McMillan; Angela M Christiano; Robin A J Eady; Jouni Uitto
Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition.
The American journal of pathology 1996;148(6):1787-96.
1996: Alain Mauviel; K Y Chung; A Agarwal; K Tamai; Jouni Uitto
Cell-specific induction of distinct oncogenes of the Jun family is responsible for differential regulation of collagenase gene expression by transforming growth factor-beta in fibroblasts and keratinocytes.
The Journal of biological chemistry 1996;271(18):10917-23.
1996: Elena Maestrini; Anthony P Monaco; J A McGrath; A Ishida-Yamamoto; C Camisa; Alain Hovnanian; Daniel E Weeks; Mark Lathrop; Jouni Uitto; A M Christiano
A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome.
Nature genetics 1996;13(1):70-7.
1996: J A McGarth; Angela M Christiano; L Pulkkinen; Robin A J Eady; Jouni Uitto
Compound heterozygosity for nonsense ans missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa.
The Journal of investigative dermatology 1996;106(5):1157-9.
1996: J A McGrath; M G Dunnill; Angela M Christiano; B D Lake; D J Atherton; C H Rodeck; F Michael Pope; Robin A J Eady; Jouni Uitto
First trimester DNA-based exclusion of recessive dystrophic epidermolysis bullosa from chorionic villus sampling.
The British journal of dermatology 1996;134(4):734-9.
1996: Angela M Christiano; I Anton-Lamprecht; S Amano; U Ebschner; Robert E Burgeson; Jouni Uitto
Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype.
American journal of human genetics 1996;58(4):682-93.
1996: Angela M Christiano; J A McGrath; Kong C Tan; Jouni Uitto
Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.
American journal of human genetics 1996;58(4):671-81.
1996: J A McGrath; Sirpa Kivirikko; S Ciatti; C Moss; Angela M Christiano; Jouni Uitto
A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect.
The Journal of investigative dermatology 1996;106(4):781-4.
1996: Angela M Christiano; B J Bart; E H Epstein; Jouni Uitto
Genetic basis of Bart's syndrome: a glycine substitution mutation in type VII collagen gene.
The Journal of investigative dermatology 1996;106(4):778-80.
1996: Angela M Christiano; L Pulkkinen; Robin A J Eady; Jouni Uitto
Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa.
The Journal of investigative dermatology 1996;106(4):775-7.
1996: J A McGrath; Thomas Darling; B Gatalica; Gabriele Pohla-Gubo; Helmut Hintner; Angela M Christiano; Kim B Yancey; Jouni Uitto
A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa.
The Journal of investigative dermatology 1996;106(4):771-4.
1996: Angela M Christiano; J A McGrath; Jouni Uitto
Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa.
The Journal of investigative dermatology 1996;106(4):766-70.
1996: Angela M Christiano; M D'Alessio; Mauro Paradisi; Corrado Angelo; Cinzia Mazzanti; Pietro Puddu; Jouni Uitto
A common insertion mutation in COL7A1 in two Italian families with recessive dystrophic epidermolysis bullosa.
The Journal of investigative dermatology 1996;106(4):679-84.
1996: Eric F Bernstein; Jouni Uitto
The effect of photodamage on dermal extracellular matrix.
Clinics in dermatology 1996;14(2):143-51.
1996: K Y Chung; A Agarwal; Jouni Uitto; Alain Mauviel
An AP-1 binding sequence is essential for regulation of the human alpha2(I) collagen (COL1A2) promoter activity by transforming growth factor-beta.
The Journal of biological chemistry 1996;271(6):3272-8.
1996: Sirpa Kivirikko; J A McGrath; L Pulkkinen; Jouni Uitto; Angela M Christiano
Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa.
Human molecular genetics 1996;5(2):231-7.
1996: Eric F Bernstein; Y Q Chen; J B Kopp; L Fisher; Douglas B Brown; P J Hahn; F A Robey; Jouni Lakkakorpi; Jouni Uitto
Long-term sun exposure alters the collagen of the papillary dermis. Comparison of sun-protected and photoaged skin by northern analysis, immunohistochemical staining, and confocal laser scanning microscopy.
Journal of the American Academy of Dermatology 1996;34(2 Pt 1):209-18.
1996: Angela M Christiano; Jouni Uitto
Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa.
Experimental dermatology 1996;5(1):1-11.
1996: Angela M Christiano; S LaForgia; A S Paller; J McGuire; H Shimizu; Jouni Uitto
Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1).
Molecular medicine (Cambridge, Mass.) 1996;2(1):59-76.