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Jouni Uitto

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Publications

TOP 3
Babu Sundar; Fan Chenxiang; Stepanskiy Leonard; Uitto Jouni; Papazoglou Elisabeth
Effect of size at the nanoscale and bilayer rigidity on skin diffusion of liposomes.
Tamai Katsuto; Kaneda Yasufumi; Uitto Jouni
Molecular therapies for heritable blistering diseases.
LaRusso Jennifer; Li Qiaoli; Jiang Qiujie; Uitto Jouni
Elevated dietary magnesium prevents connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-)).

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All Publications

2009: Babu Sundar; Fan Chenxiang; Stepanskiy Leonard; Uitto Jouni; Papazoglou Elisabeth
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: Tamai Katsuto; Kaneda Yasufumi; Uitto Jouni
Molecular therapies for heritable blistering diseases.
Trends in molecular medicine 2009;15(7):285-92.
2009: LaRusso Jennifer; Li Qiaoli; Jiang Qiujie; Uitto Jouni
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: Mahoney My G; Brennan Donna; Starcher Barry; Faryniarz Joseph; Ramirez Jose; Parr Lisa; Uitto Jouni
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: Li Qiaoli; Grange Dorothy K; Armstrong Nicole L; Whelan Alison J; Hurley Maria Y; Rishavy Mark A; Hallgren Kevin W; Berkner Kathleen L; Schurgers Leon J; Jiang Qiujie; Uitto Jouni
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: Li Qiaoli; Schurgers Leon J; Smith Ann C M; Tsokos Maria; Uitto Jouni; Cowen Edward W
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: Jiang Qiujie; Endo Masayuki; Dibra Florian; Wang Krystle; Uitto Jouni
Pseudoxanthoma elasticum is a metabolic disease.
The Journal of investigative dermatology 2009;129(2):348-54.
2009: Remington Jennifer; Wang Xinyi; Hou Yingpin; Zhou Hui; Burnett Julie; Muirhead Trevor; Uitto Jouni; Keene Douglas R; Woodley David T; Chen Mei
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: Chefetz Ilana; Kohno Kimitoshi; Izumi Hiroto; Uitto Jouni; Richard Gabriele; Sprecher Eli
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.
2009: Tolar Jakub; Ishida-Yamamoto Akemi; Riddle Megan; McElmurry Ron T; Osborn Mark; Xia Lily; Lund Troy; Slattery Catherine; Uitto Jouni; Christiano Angela M; Wagner John E; Blazar Bruce R
Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells.
Blood 2009;113(5):1167-74.
2009: Uitto Jouni
Progress in heritable skin diseases: translational implications of mutation analysis and prospects of molecular therapies*.
Acta dermato-venereologica 2009;89(3):228-35.
2009: Uitto Jouni
Phenotypic complexity of epidermolysis bullosa: the paradigm of the pruriginosa subtype.
Acta dermato-venereologica 2009;89(1):4-5.
2008: Katsuta Yuji; Ogura Yuki; Iriyama Shunsuke; Goetinck Paul F; Klement John F; Uitto Jouni; Amano Satoshi
Fibulin-5 accelerates elastic fibre assembly in human skin fibroblasts.
Experimental dermatology 2008;17(10):837-42.
2008: Uitto Jouni
Epidermolysis bullosa: prospects for cell-based therapies.
The Journal of investigative dermatology 2008;128(9):2140-2.
2008: Chino Takenao; Tamai Katsuto; Yamazaki Takehiko; Otsuru Satoru; Kikuchi Yasushi; Nimura Keisuke; Endo Masayuki; Nagai Miki; Uitto Jouni; Kitajima Yasuo; Kaneda Yasufumi
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: Chung Hye Jin; Steplewski Andrzej; Chung Kee Yang; Uitto Jouni; Fertala Andrzej
Collagen fibril formation. A new target to limit fibrosis.
The Journal of biological chemistry 2008;283(38):25879-86.
2008: Aizu Takayuki; Tamai Katsuto; Nakano Hajime; Rokunohe Daiki; Toyomaki Yuka; Uitto Jouni; Sawamura Daisuke
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: Fine Jo-David; Eady Robin A J; Bauer Eugene A; Bauer Johann W; Bruckner-Tuderman Leena; Heagerty Adrian; Hintner Helmut; Hovnanian Alain; Jonkman Marcel F; Leigh Irene; McGrath John A; Mellerio Jemima E; Murrell Dedee F; Shimizu Hiroshi; Uitto Jouni; Vahlquist Anders; Woodley David; Zambruno Giovanna
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: Chefetz Ilana; Ben Amitai Danny; Browning Sarah; Skorecki Karl; Adir Noam; Thomas Mark G; Kogleck Larissa; Topaz Orit; Indelman Margarita; Uitto Jouni; Richard Gabriele; Bradman Neil; Sprecher Eli
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: Igoucheva Olga; Kelly Aislinn; Uitto Jouni; Alexeev Vitali
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: Lugassy Jennie; McGrath John A; Itin Peter; Shemer Revital; Verbov Julian; Murphy Helen R; Ishida-Yamamoto Akemi; Digiovanna John J; Bercovich Dani; Karin Nathan; Vitenshtein Alon; Uitto Jouni; Bergman Reuven; Richard Gabriele; Sprecher Eli
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: Li Qiaoli; Jiang Qiujie; Uitto Jouni
Pseudoxanthoma elasticum: oxidative stress and antioxidant diet in a mouse model (Abcc6-/-).
The Journal of investigative dermatology 2008;128(5):1160-4.
2008: Nakajima Koji; Tamai Katsuto; Yamazaki Takehiko; Toyomaki Yuka; Nakano Hajime; Uitto Jouni; Sawamura Daisuke
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: Weinel Sarah; Lucky Anne W; Uitto Jouni; Pfendner Ellen G; Choo Daniel
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: LaRusso Jennifer; Jiang Qiujie; Li Qiaoli; Uitto Jouni
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: Uitto Jouni
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: Van Que N; Issaq Haleem J; Jiang Qiujie; Li Qiaoli; Muschik Gary M; Waybright Timothy J; Lou Hong; Dean Michael; Uitto Jouni; Veenstra Timothy D
Comparison of 1D and 2D NMR spectroscopy for metabolic profiling.
Journal of proteome research 2008;7(2):630-9.
2008: Vanakker Olivier M; Leroy Bart P; Coucke Paul; Bercovitch Lionel G; Uitto Jouni; Viljoen Dennis; Terry Sharon F; Van Acker Petra; Matthys Dirk; Loeys Bart; De Paepe Anne
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: McGrath John A; Uitto Jouni
The filaggrin story: novel insights into skin-barrier function and disease.
Trends in molecular medicine 2008;14(1):20-7.
2007: Sevilla Lisa M; Nachat Rachida; Groot Karen R; Klement John F; Uitto Jouni; Djian Philippe; Määttä Arto; Watt Fiona M
Mice deficient in involucrin, envoplakin, and periplakin have a defective epidermal barrier.
The Journal of cell biology 2007;179(7):1599-612.
2007: Li Qiaoli; Jiang Qiujie; Schurgers Leon J; Uitto Jouni
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: Kawachi Masako; Tamai Katsuto; Saga Kotaro; Yamazaki Takehiko; Fujita Hiroshi; Shimbo Takashi; Kikuchi Yasushi; Nimura Keisuke; Nishifuji Koji; Amagai Masayuki; Uitto Jouni; Kaneda Yasufumi
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: Rodeck Ulrich; Uitto Jouni
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: Li Qiaoli; Jiang Qiujie; Larusso Jennifer; Klement John F; Sartorelli Alan C; Belinsky Martin G; Kruh Gary D; Uitto Jouni
Targeted ablation of Abcc1 or Abcc3 in Abcc6(-/-) mice does not modify the ectopic mineralization process.
Experimental dermatology 2007;16(10):853-9.
2007: Pfendner Ellen G; Vanakker Olivier M; Terry Sharon F; Vourthis Sophia; McAndrew Patricia E; McClain Monica R; Fratta Sarah; Marais Anna-Susan; Hariri Susan; Coucke Paul J; Ramsay Michele; Viljoen Denis; Terry Patrick F; De Paepe Anne; Uitto Jouni; Bercovitch Lionel G
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: Murrell Dedee F; Pasmooij Anna M G; Pas Hendri H; Marr Penelope; Klingberg Sandra; Pfendner Ellen; Uitto Jouni; Sadowski Sara; Collins Felicity; Widmer Richard; Jonkman Marcel F
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: Uitto Jouni; Richard Gabriele; McGrath John A
Diseases of epidermal keratins and their linker proteins.
Experimental cell research 2007;313(10):1995-2009.
2007: Rodeck Ulrich; Fertala Andrzej; Uitto Jouni
Anchorless keratinocyte survival: an emerging pathogenic mechanism for squamous cell carcinoma in recessive dystrophic epidermolysis bullosa.
Experimental dermatology 2007;16(6):465-7.
2007: Featherstone Carol; Uitto Jouni
Ex vivo gene therapy cures a blistering skin disease.
Trends in molecular medicine 2007;13(6):219-22.
2007: Jiang Qiujie; Li Qiaoli; Uitto Jouni
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: Uitto Jouni; Jiang Qiujie
Pseudoxanthoma elasticum-like phenotypes: more diseases than one.
The Journal of investigative dermatology 2007;127(3):507-10.
2007: Brennan Donna; Hu Ying; Joubeh Sohaila; Choi Yoo Won; Whitaker-Menezes Diana; O'Brien Thomas; Uitto Jouni; Rodeck Ulrich; Mahoney My G
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: Varki Roslyn; Sadowski Sara; Uitto Jouni; Pfendner Ellen
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: Terry Sharon F; Terry Patrick F; Rauen Katherine A; Uitto Jouni; Bercovitch Lionel G
Advocacy groups as research organizations: the PXE International example.
Nature reviews. Genetics 2007;8(2):157-64.
2007: Uitto Jouni
IL-6 signaling pathway in keloids: a target for pharmacologic intervention?
The Journal of investigative dermatology 2007;127(1):6-8.
2007: McMillan J R; Akiyama M; Rouan F; Mellerio J E; Lane E B; Leigh I M; Owaribe K; Wiche G; Fujii N; Uitto J; Eady R A J; Shimizu H
Plectin defects in epidermolysis bullosa simplex with muscular dystrophy.
Muscle & nerve 2007;35(1):24-35.
2006: Topaz Orit; Indelman Margarita; Chefetz Ilana; Geiger Dan; Metzker Aryeh; Altschuler Yoram; Choder Mordechai; Bercovich Dani; Uitto Jouni; Bergman Reuven; Richard Gabriele; Sprecher Eli
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.
American journal of human genetics 2006;79(4):759-64.
2006: Lugassy Jennie; Itin Peter; Ishida-Yamamoto Akemi; Holland Kristen; Huson Susan; Geiger Dan; Hennies Hans Christian; Indelman Margarita; Bercovich Dani; Uitto Jouni; Bergman Reuven; McGrath John A; Richard Gabriele; Sprecher Eli
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: Varki R; Sadowski S; Pfendner E; Uitto J
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.
Journal of medical genetics 2006;43(8):641-52.
2006: Jiang Qiujie; Uitto Jouni
Pseudoxanthoma elasticum: a metabolic disease?
The Journal of investigative dermatology 2006;126(7):1440-1.
2006: Brittingham Raymond; Uitto Jouni; Fertala Andrzej
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: Kaneko Takahide; Tamai Katsuto; Matsuzaki Yasushi; Yamazaki Takehiko; Nakano Hajime; Kon Atsushi; Hashimoto Isao; Hanada Katsumi; Kaneda Yasuhumi; Uitto Jouni
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: Fujimoto Norihiro; Terlizzi Joseph; Aho Sirpa; Brittingham Raymond; Fertala Andrzej; Oyama Noritaka; McGrath John A; Uitto Jouni
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: Abu Sa'd Judeh; Indelman Margarita; Pfendner Ellen; Falik-Zaccai Tzipora C; Mizrachi-Koren Mordechai; Shalev Stavit; Ben Amitai Dani; Raas-Rothshild Annick; Adir-Shani Ayelet; Borochowitz Zvi-Uri; Gershoni-Baruch Ruth; Khayat Morad; Landau Daniela; Richard Gabriele; Bergman Reuven; Uitto Jouni; Kanaan Moien; Sprecher Eli
Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.
The Journal of investigative dermatology 2006;126(4):777-81.
2006: Ringpfeil Franziska; McGuigan Kelly; Fuchsel Lauren; Kozic Heidi; Larralde Margarita; Lebwohl Mark; Uitto Jouni
Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity.
The Journal of investigative dermatology 2006;126(4):782-6.
2006: Shurman Daniel; Losi-Sasaki Jacqueline; Grimwood Ronald; Kivirikko Sirpa; Tichy Elizabeth; Uitto Jouni; Richard Gabriele
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: Jiang Qiujie; Matsuzaki Yasushi; Li Kehua; Uitto Jouni
Transcriptional regulation and characterization of the promoter region of the human ABCC6 gene.
The Journal of investigative dermatology 2006;126(2):325-35.
2006: Nguyen Nguyet M; Pulkkinen Leena; Schlueter Jessica A; Meneguzzi Guerrino; Uitto Jouni; Senior Robert M
Lung development in laminin gamma2 deficiency: abnormal tracheal hemidesmosomes with normal branching morphogenesis and epithelial differentiation.
Respiratory research 2006;7():28.
2005: Matsuzaki Yasushi; Nakano Aoi; Jiang Qiu-Jie; Pulkkinen Leena; Uitto Jouni
Tissue-specific expression of the ABCC6 gene.
The Journal of investigative dermatology 2005;125(5):900-5.
2005: Hata Daisuke; Miyazaki Maki; Seto Shiro; Kadota Eiji; Muso Eri; Takasu Kosho; Nakano Aoi; Tamai Katsuto; Uitto Jouni; Nagata Michio; Moriyama Kayano; Miyazaki Kaoru
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: Uitto Jouni
The Ehlers-Danlos syndrome--phenotypic spectrum and molecular genetics.
European journal of dermatology : EJD 2005;15(5):311-2.
2005: Klement John F; Matsuzaki Yasushi; Jiang Qiu-Jie; Terlizzi Joseph; Choi Hae Young; Fujimoto Norihiro; Li Kehua; Pulkkinen Leena; Birk David E; Sundberg John P; Uitto Jouni
Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues.
Molecular and cellular biology 2005;25(18):8299-310.
2005: Pfendner Ellen G; Sadowski Sara G; Uitto Jouni
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: Uitto Jouni
The gene family of ABC transporters--novel mutations, new phenotypes.
Trends in molecular medicine 2005;11(8):341-3.
2005: Fujimoto Norihiro; Terlizzi Joseph; Brittingham Raymond; Fertala Andrzej; McGrath John A; Uitto Jouni
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: Aumailley Monique; Bruckner-Tuderman Leena; Carter William G; Deutzmann Rainer; Edgar David; Ekblom Peter; Engel Jürgen; Engvall Eva; Hohenester Erhard; Jones Jonathan C R; Kleinman Hynda K; Marinkovich M Peter; Martin George R; Mayer Ulrike; Meneguzzi Guerrino; Miner Jeffrey H; Miyazaki Kaoru; Patarroyo Manuel; Paulsson Mats; Quaranta Vito; Sanes Joshua R; Sasaki Takako; Sekiguchi Kiyotoshi; Sorokin Lydia M; Talts Jan F; Tryggvason Karl; Uitto Jouni; Virtanen Ismo; von der Mark Klaus; Wewer Ulla M; Yamada Yoshihiko; Yurchenco Peter D
A simplified laminin nomenclature.
Matrix biology : journal of the International Society for Matrix Biology 2005;24(5):326-32.
2005: Pfendner E; Rouan F; Uitto J
Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations.
Experimental dermatology 2005;14(4):241-9.
2005: Jiang Qiu-Jie; Uitto Jouni
Animal models of epidermolysis bullosa--targets for gene therapy.
The Journal of investigative dermatology 2005;124(3):xi-xiii.
2005: Takahashi Yoshie; Rouan Fatima; Uitto Jouni; Ishida-Yamamoto Akemi; Iizuka Hajime; Owaribe Katsushi; Tanigawa Mizuko; Ishii Norito; Yasumoto Shinichiro; Hashimoto Takashi
Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy.
Journal of dermatological science 2005;37(2):87-93.
2005: Uitto Jouni; Richard Gabriele
Progress in epidermolysis bullosa: from eponyms to molecular genetic classification.
Clinics in dermatology 2005;23(1):33-40.
2005: Pfendner Ellen; Uitto Jouni
Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia.
The Journal of investigative dermatology 2005;124(1):111-5.
2005: Kalinin Andrey E; Kalinin Alexandr E; Aho Mikko; Uitto Jouni; Aho Sirpa
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.
2005: Brittingham Raymond; Colombo Morgana; Ito Hidetoshi; Steplewski Andrzej; Birk David E; Uitto Jouni; Fertala Andrzej
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.
2004: El-Domyati Moetaz M; Attia Sameh K; Saleh Fatma Y; Ahmad Hesham M; Uitto Jouni
Effect of topical tretinoin on photoaged facial skin: a histometric, immunohistochemical and ultrastructural study.
Journal of cosmetic dermatology 2004;3(4):191-201.
2004: Odanagi Maiko; Kikuchi Yasushi; Yamazaki Takehiko; Kaneko Takahide; Nakano Hajime; Tamai Katsuto; Uitto Jouni; Hanada Katsumi
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: Uitto Jouni; Richard Gabriele
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: Brennan Donna; Hu Ying; Kljuic Ana; Choi Yoowon; Joubeh Sohaila; Bashkin Marisa; Wahl James; Fertala Andrzej; Pulkkinen Leena; Uitto Jouni; Christiano Angela M; Panteleyev Andrey; Mahoney My G
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: Uitto Jouni
Epidermolysis bullosa: the expanding mutation database.
The Journal of investigative dermatology 2004;123(4):xii-xiii.
2004: Lanschuetzer C M; Klausegger A; Pohla-Gubo G; Hametner R; Richard G; Uitto J; Hintner H; Bauer J W
Gene symbol: KRT14. Disease: epidermolysis bullosa simplex, Koebner.
Human genetics 2004;115(2):171.
2004: Aho Sirpa; Li Kehua; Ryoo Young; McGee Clair; Ishida-Yamamoto Akemi; Uitto Jouni; Klement John F
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: Metz Brandie J; Ruggeri Sun Young; Hsu Sylvia; Reed Jon A; Ghohestani Ali S; Uitto Jouni; Ghohestani Reza F
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: Uitto Jouni; Ringpfeil Franziska
Ehlers-Danlos syndrome-molecular genetics beyond the collagens.
The Journal of investigative dermatology 2004;122(4):xii-xiii.
2004: Schara Ulrike; Tücke Jens; Mortier Wilhelm; Nüsslein Thomas; Rouan Fatima; Pfendner Ellen; Zillikens Detlef; Bruckner-Tuderman Leena; Uitto Jouni; Wiche Gerhard; Schröder Rolf
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: Uitto Jouni
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: El-Domyati Moetaz B M; Attia Sameh K; Saleh Fatma Y; Ahmad Hesham M; Uitto Jouni J
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: Naso Michael; Uitto Jouni; Klement John F
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: Meng Xianmin; Klement John F; Leperi Dominic A; Birk David E; Sasaki Takako; Timpl Rupert; Uitto Jouni; Pulkkinen Leena
Targeted inactivation of murine laminin gamma2-chain gene recapitulates human junctional epidermolysis bullosa.
The Journal of investigative dermatology 2003;121(4):720-31.
2003: Colombo Morgana; Brittingham Raymond J; Klement John F; Majsterek Ireneusz; Birk David E; Uitto Jouni; Fertala Andrzej
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: Hwang Linda Y; Lee Jason B; Richard Gabriele; Uitto Jouni J; Hsu Sylvia
Type 1 segmental manifestation of Hailey-Hailey disease.
Journal of the American Academy of Dermatology 2003;49(4):712-4.
2003: El-Domyati Moetaz M; Attia Sameh K; Saleh Fatma Y; Ahmad Hesham M; Gasparro Frances P; Uitto Jouni J
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: Uitto Jouni; Pfendner Ellen; Jackson Laird G
Probing the fetal genome: progress in non-invasive prenatal diagnosis.
Trends in molecular medicine 2003;9(8):339-43.
2003: Pfendner Ellen G; Nakano Aoi; Pulkkinen Leena; Christiano Angela M; Uitto Jouni
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.
Prenatal diagnosis 2003;23(6):447-56.
2003: Ghohestani Reza F; Rotunda Sherry L; Hudson Billy; Gaughan William J; Farber John L; Webster Guy; Uitto Jouni
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: Ciubotaru Dan; Bergman Reuven; Baty David; Indelman Margarita; Pfendner Ellen; Petronius Danny; Moualem Hannah; Kanaan Moien; Ben Amitai Danny; McLean W H Irwin; Uitto Jouni; Sprecher Eli
Epidermolysis bullosa simplex in Israel: clinical and genetic features.
Archives of dermatology 2003;139(4):498-505.
2003: Kljuic Ana; Bazzi Hisham; Sundberg John P; Martinez-Mir Amalia; O'Shaughnessy Ryan; Mahoney My G; Levy Moise; Montagutelli Xavier; Ahmad Wasim; Aita Vincent M; Gordon Derek; Uitto Jouni; Whiting David; Ott Jurg; Fischer Stuart; Gilliam T Conrad; Jahoda Colin A B; Morris Rebecca J; Panteleyev Andrei A; Nguyen Vu Thuong; Christiano Angela M
Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris.
Cell 2003;113(2):249-60.
2003: Rouan F; Lo C W; Fertala A; Wahl M; Jost M; Rodeck U; Uitto J; Richard G
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: Kaithamana S; Fan J-L; Memar O; Li K; Uitto J; Seetharamaiah G S; Prabhakar B S
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: Sprecher Eli; Yosipovitch Gil; Bergman Reuven; Ciubutaro Dan; Indelman Margarita; Pfendner Ellen; Goh Leok C; Miller Christopher J; Uitto Jouni; Richard Gabriele
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: Richard Gabriele; Brown Nkecha; Rouan Fatima; Van der Schroeff Jan-Gerrit; Bijlsma Emilia; Eichenfield Lawrence F; Sybert Virginia P; Greer Kenneth E; Hogan Peter; Campanelli Carmen; Compton John G; Bale Sherri J; DiGiovanna John J; Uitto Jouni
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: Markova Dessislava; Zou Yaqun; Ringpfeil Franziska; Sasaki Takako; Kostka Günter; Timpl Rupert; Uitto Jouni; Chu Mon-Li
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: Pulkkinen L; Choi Y W; Kljuic A; Uitto J; Mahoney M G
Novel member of the mouse desmoglein gene family: Dsg1-beta.
Experimental dermatology 2003;12(1):11-9.
2003: Matsuzaki Yasushi; Tamai Katsuto; Kon Atsushi; Sawamura Daisuke; Uitto Jouni; Hashimoto Isao
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: Lanschuetzer C M; Klausegger A; Pohla-Gubo G; Hametner R; Richard G; Uitto J; Hintner H; Bauer J W
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.
2003: El-Domyati Moetaz Bellah; Attia Sameh; Saleh Fatma; Galaria Noreen; Ahmad Hesham; Gasparro Frances P; Uitto Jouni
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.
2002: Uitto Jouni; Pulkkinen Leena; Ringpfeil Franziska
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: Pulkkinen Leena; Choi Yoo Won; Simpson Anisha; Montagutelli Xavier; Sundberg John; Uitto Jouni; Mahoney My G
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: Kazerounian Shideh; Uitto Jouni; Aho Sirpa
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: El-Domyati M; Attia S; Saleh F; Brown D; Birk D E; Gasparro F; Ahmad H; Uitto J
Intrinsic aging vs. photoaging: a comparative histopathological, immunohistochemical, and ultrastructural study of skin.
Experimental dermatology 2002;11(5):398-405.
2002: Sprecher Eli; Itin Peter; Whittock Neil V; McGrath John A; Meyer Rudolph; DiGiovanna John J; Bale Sherri J; Uitto Jouni; Richard Gabriele
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: Pulkkinen Leena; Ringpfeil Franziska; Uitto Jouni
Progress in heritable skin diseases: molecular bases and clinical implications.
Journal of the American Academy of Dermatology 2002;47(1):91-104.
2002: Schröder Rolf; Kunz Wolfram S; Rouan Fatima; Pfendner Ellen; Tolksdorf Karen; Kappes-Horn Karin; Altenschmidt-Mehring Manuela; Knoblich Rupert; van der Ven Peter F M; Reimann Jens; Fürst Dieter O; Blümcke Ingmar; Vielhaber Stefan; Zillikens Detlef; Eming Sabine; Klockgether Thomas; Uitto Jouni; Wiche Gerhard; Rolfs Arndt
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: Uitto Jouni
Searching for clues to premature aging.
Trends in endocrinology and metabolism: TEM 2002;13(4):140-1.
2002: Richard Gabriele; Rouan Fatima; Willoughby Colin E; Brown Nkecha; Chung Pil; Ryynänen Markku; Jabs Ethylin Wang; Bale Sherri J; DiGiovanna John J; Uitto Jouni; Russell Laura
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: Mahoney My G; Simpson Anisha; Aho Sirpa; Uitto Jouni; Pulkkinen Leena
Interspecies conservation and differential expression of mouse desmoglein gene family.
Experimental dermatology 2002;11(2):115-25.
2002: Uitto Jouni
Searching for clues to premature aging.
Trends in molecular medicine 2002;8(4):155-7.
2002: Nakano Aoi; Lestringant Gilles G; Paperna Tamar; Bergman Reuven; Gershoni Ruth; Frossard Philippe; Kanaan Moien; Meneguzzi Guerrino; Richard Gabriele; Pfendner Ellen; Uitto Jouni; Pulkkinen Leena; Sprecher Eli
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: Aho Sirpa; Levänsuo Laura; Montonen Outi; Kari Csaba; Rodeck Ulrich; Uitto Jouni
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: Mahoney My G; Simpson Anisha; Jost Monika; Noé Mariadele; Kari Csaba; Pepe Deanna; Choi Yoo Won; Uitto Jouni; Rodeck Ulrich
Metastasis-associated protein (MTA)1 enhances migration, invasion, and anchorage-independent survival of immortalized human keratinocytes.
Oncogene 2002;21(14):2161-70.
2002: Nakano Aoi; Nakano Hajime; Hanada Katsumi; Nomura Kazuo; Uitto Jouni
ZNT4 gene is not responsible for acrodermatitis enteropathica in Japanese families.
Human genetics 2002;110(2):201-2.
2002: Whittock Neil V; Wan Hong; Morley Susan M; Garzon Maria C; Kristal Leonard; Hyde Patrice; McLean W H Irwin; Pulkkinen Leena; Uitto Juoni; Christiano Angela M; Eady Robin A J; McGrath John A
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: Nakano Aoi; Chao Sheau-Chiou; Pulkkinen Leena; Murrell Dedee; Bruckner-Tuderman Leena; Pfendner Ellen; Uitto Jouni
Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.
Human genetics 2002;110(1):41-51.
2002: Korang Karsten; Ghohestani Reza; Krieg Thomas; Uitto Jouni; Hunzelmann Nicolas
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.
2001: Montonen O; Aho M; Uitto J; Aho S
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: Uitto J; Pulkkinen L
Molecular genetics of heritable blistering disorders.
Archives of dermatology 2001;137(11):1458-61.
2001: Pulkkinen L; Nakano A; Ringpfeil F; Uitto J
Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum.
Human genetics 2001;109(3):356-65.
2001: Ghohestani R F; Li K; Rousselle P; Uitto J
Molecular organization of the cutaneous basement membrane zone.
Clinics in dermatology 2001;19(5):551-62.
2001: Nakano H; Gasparro F P; Uitto J
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: Sprecher E; Chavanas S; DiGiovanna J J; Amin S; Nielsen K; Prendiville J S; Silverman R; Esterly N B; Spraker M K; Guelig E; de Luna M L; Williams M L; Buehler B; Siegfried E C; Van Maldergem L; Pfendner E; Bale S J; Uitto J; Hovnanian A; Richard G
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: Ringpfeil F; Pulkkinen L; Uitto J
Molecular genetics of pseudoxanthoma elasticum.
Experimental dermatology 2001;10(4):221-8.
2001: Uitto J
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: Simpson A; Uitto J; Rodeck U; Mahoney M G
Differential expression and subcellular distribution of the mouse metastasis-associated proteins Mta1 and Mta3.
Gene 2001;273(1):29-39.
2001: Bruckner-Tuderman L; Uitto J
Progress in molecular dermatology.
Acta dermato-venereologica 2001;81(3):161-2.
2001: Rouan F; White T W; Brown N; Taylor A M; Lucke T W; Paul D L; Munro C S; Uitto J; Hodgins M B; Richard G
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: Ning C C; Chao S C; Uitto J; Shieh C C; Lee J Y
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: Verrecchia F; Vindevoghel L; Lechleider R J; Uitto J; Roberts A B; Mauviel A
Smad3/AP-1 interactions control transcriptional responses to TGF-beta in a promoter-specific manner.
Oncogene 2001;20(26):3332-40.
2001: Brown D B; Peritz A E; Uitto J; Gasparro F P
Ultraviolet-filtering properties of commonly used tissue cell culture plasticware.
Photodermatology, photoimmunology & photomedicine 2001;17(3):126-9.
2001: Nakano A; Pulkkinen L; Murrell D; Rico J; Lucky A W; Garzon M; Stevens C A; Robertson S; Pfendner E; Uitto J
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: Uitto J
Patient advocacy organizations partner genetic research, and forge the agenda.
Trends in molecular medicine 2001;7(4):182.
2001: Pfendner E; Uitto J; Fine J D
Epidermolysis bullosa carrier frequencies in the US population.
The Journal of investigative dermatology 2001;116(3):483-4.
2001: Klausegger A; Pulkkinen L; Pohla-Gubo G; Dallinger G; Puttinger R; Uitto J; Hintner H; Bauer J W
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: Ringpfeil F; Nakano A; Uitto J; Pulkkinen L
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: Kouba D J; Nakano H; Nishiyama T; Kang J; Uitto J; Mauviel A
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: Nakano A; Nomura K; Nakano H; Ono Y; LaForgia S; Pulkkinen L; Hashimoto I; Uitto J
Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C gene.
The Journal of investigative dermatology 2001;116(2):339-43.
2001: Bernstein E F; Kong S K; Brown D B; Kwak B C; Takeuchi T; Gasparro F P; Uitto J
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: Gras M P; Verrecchia F; Uitto J; Mauviel A
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: Ringpfeil F; Raus A; DiGiovanna J J; Korge B; Harth W; Mazzanti C; Uitto J; Bale S J; Richard G
Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlation.
Experimental dermatology 2001;10(1):19-27.
2001: Bauer J W; Rouan F; Kofler B; Rezniczek G A; Kornacker I; Muss W; Hametner R; Klausegger A; Huber A; Pohla-Gubo G; Wiche G; Uitto J; Hintner H
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: Uitto J; Pulkkinen L; Ringpfeil F
Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?
Trends in molecular medicine 2001;7(1):13-7.
2001: Lin M T; Wang F; Uitto J; Yoon K
Differential expression of tissue-specific promoters by gene gun.
The British journal of dermatology 2001;144(1):34-9.
2000: Uitto J; Kouba D
Cytokine modulation of extracellular matrix gene expression: relevance to fibrotic skin diseases.
Journal of dermatological science 2000;24 Suppl 1():S60-9.
2000: Morrell D S; Rubenstein D S; Briggaman R A; Fine J D; Pulkkinen L; Uitto J
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: Moy R L; Potter T S; Uitto J
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: Uitto J; Pulkkinen L
The genodermatoses: candidate diseases for gene therapy.
Human gene therapy 2000;11(16):2267-75.
2000: Nakano A; Pfendner E; Hashimoto I; Uitto J
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: Brown D B; Peritz A E; Mitchell D L; Chiarello S; Uitto J; Gasparro F P
Common fluorescent sunlamps are an inappropriate substitute for sunlight.
Photochemistry and photobiology 2000;72(3):340-4.
2000: Kazerounian S; Mahoney M G; Uitto J; Aho S
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: Takizawa Y; Pulkkinen L; Chao S C; Nakajima H; Nakano Y; Shimizu H; Uitto J
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: Ishikawa H; Li K; Tamai K; Sawamura D; Uitto J
Cloning of the mouse desmoglein 3 gene (Dsg3): interspecies conservation within the cadherin superfamily.
Experimental dermatology 2000;9(4):229-39.
2000: Wallerstein R; Klein M L; Genieser N; Pulkkinen L; Uitto J
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: Wu H; Wang Z H; Yan A; Lyle S; Fakharzadeh S; Wahl J K; Wheelock M J; Ishikawa H; Uitto J; Amagai M; Stanley J R
Protection against pemphigus foliaceus by desmoglein 3 in neonates.
The New England journal of medicine 2000;343(1):31-5.
2000: Kambham N; Tanji N; Seigle R L; Markowitz G S; Pulkkinen L; Uitto J; D'Agati V D
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: Uitto J; Pulkkinen L
Epidermolysis bullosa in Mexico.
International journal of dermatology 2000;39(6):433-5.
2000: Smith F J; Fisher M P; Healy E; Rees J L; Bonifas J M; Epstein E H; Tan E M; Uitto J; McLean W H
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: Fine J D; Eady R A; Bauer E A; Briggaman R A; Bruckner-Tuderman L; Christiano A; Heagerty A; Hintner H; Jonkman M F; McGrath J; McGuire J; Moshell A; Shimizu H; Tadini G; Uitto J
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: Ghohestani R F; Hudson B G; Claudy A; Uitto J
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: Ringpfeil F; Lebwohl M G; Christiano A M; Uitto J
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: Lee J Y; Li C; Chao S C; Pulkkinen L; Uitto J
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: Sprecher E; Bale S J; DiGiovanna J J; Uitto J; Richard G
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: Uitto J; Eady R; Fine J D; Feder M; Dart J
The DEBRA International Visioning/Consensus Meeting on Epidermolysis Bullosa: summary and recommendations.
The Journal of investigative dermatology 2000;114(4):734-7.
2000: Richard G; Brown N; Smith L E; Terrinoni A; Melino G; Mackie R M; Bale S J; Uitto J
The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.
Human genetics 2000;106(3):321-9.
2000: Lin M T; Pulkkinen L; Uitto J; Yoon K
The gene gun: current applications in cutaneous gene therapy.
International journal of dermatology 2000;39(3):161-70.
2000: Aho S; Buisson M; Pajunen T; Ryoo Y W; Giot J F; Gruffat H; Sergeant A; Uitto J
Ubinuclein, a novel nuclear protein interacting with cellular and viral transcription factors.
The Journal of cell biology 2000;148(6):1165-76.
2000: Mongiat M; Taylor K; Otto J; Aho S; Uitto J; Whitelock J M; Iozzo R V
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: Rouan F; Pulkkinen L; Meneguzzi G; Laforgia S; Hyde P; Kim D U; Richard G; Uitto J
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: Kunz M; Rouan F; Pulkkinen L; Hamm H; Jeschke R; Bruckner-Tuderman L; Bröcker E B; Wiche G; Uitto J; Zillikens D
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: Corden L D; Swensson O; Swensson B; Smith F J; Rochels R; Uitto J; McLEAN W H
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: Lin M T; Pulkkinen L; Uitto J
Cutaneous gene therapy. Principles and prospects.
Dermatologic clinics 2000;18(1):177-88, xi.
2000: Masunaga T; Shimizu H; Takizawa Y; Uitto J; Nishikawa T
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: Hsu S; Ghohestani R F; Uitto J
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.
2000: Cai L; Struk B; Adams M D; Ji W; Haaf T; Kang H L; Dho S H; Xu X; Ringpfeil F; Nancarrow J; Zäch S; Schaen L; Stumm M; Niu T; Chung J; Lunze K; Verrecchia B; Goldsmith L A; Viljoen D; Figuera L E; Fuchs W; Lebwohl M; Uitto J; Richards R; Hohl D; Ramesar R
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.
1999: Pulkkinen L; Marinkovich M P; Tran H T; Lin L; Herron G S; Uitto J
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: Coleman C M; Hannush S; Covello S P; Smith F J; Uitto J; McLean W H
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: Smith F J; Del Monaco M; Steijlen P M; Munro C S; Morvay M; Coleman C M; Rietveld F J; Uitto J; McLean W H
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: Shimizu H; Takizawa Y; Pulkkinen L; Murata S; Kawai M; Hachisuka H; Udono M; Uitto J; Nishikawa T
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: Heinonen S; Männikkö M; Klement J F; Whitaker-Menezes D; Murphy G F; Uitto J
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: Shimizu H; Masunaga T; Kurihara Y; Owaribe K; Wiche G; Pulkkinen L; Uitto J; Nishikawa T
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: Kivirikko S; Mauviel A; Pihlajaniemi T; Uitto J
Cytokine modulation of type XV collagen gene expression in human dermal fibroblast cultures.
Experimental dermatology 1999;8(5):407-12.
1999: Smith F J; McKusick V A; Nielsen K; Pfendner E; Uitto J; McLean W H
Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1.
Prenatal diagnosis 1999;19(10):941-6.
1999: Chavanas S; Gache Y; Vailly J; Kanitakis J; Pulkkinen L; Uitto J; Ortonne J; Meneguzzi G
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: Aho S; Mahoney M G; Uitto J
Plectin serves as an autoantigen in paraneoplastic pemphigus.
The Journal of investigative dermatology 1999;113(3):422-3.
1999: van Steensel M; Smith F J; Steijlen P M; Kluijt I; Stevens H P; Messenger A; Kremer H; Dunnill M G; Kennedy C; Munro C S; Doherty V R; McGrath J A; Covello S P; Coleman C M; Uitto J; McLean W H
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: Tamai K; Murai T; Mayama M; Kon A; Nomura K; Sawamura D; Hanada K; Hashimoto I; Shimizu H; Masunaga T; Nishikawa T; Mitsuhashi Y; Ishida-Yamamoto A; Ikeda S; Ogawa H; McGrath J A; Pulkkinen L; Uitto J
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: Aho S; Rothenberger K; Uitto J
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: Jonkman M F; Moreno G; Rouan F; Oranje A P; Pulkkinen L; Uitto J
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: Nousari H C; Deterding R; Wojtczack H; Aho S; Uitto J; Hashimoto T; Anhalt G J
The mechanism of respiratory failure in paraneoplastic pemphigus.
The New England journal of medicine 1999;340(18):1406-10.
1999: Christiano A M; Crollick J; Pincus S; Uitto J
Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study.
Experimental dermatology 1999;8(2):146-52.
1999: Hashimoto I; Kon A; Tamai K; Uitto J
Diagnostic dilemma of "sporadic" cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?
Experimental dermatology 1999;8(2):140-2.
1999: Smith F J; McKenna K E; Irvine A D; Bingham E A; Coleman C M; Uitto J; McLean W H
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: Uitto J
Molecular diagnostics of epidermolysis bullosa: novel pathomechanisms and surprising genetics.
Experimental dermatology 1999;8(2):92-5.
1999: Kouba D J; Chung K Y; Nishiyama T; Vindevoghel L; Kon A; Klement J F; Uitto J; Mauviel A
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: Coleman C M; Munro C S; Smith F J; Uitto J; McLean W H
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: Kon A; Vindevoghel L; Kouba D J; Fujimura Y; Uitto J; Mauviel A
Cooperation between SMAD and NF-kappaB in growth factor regulated type VII collagen gene expression.
Oncogene 1999;18(10):1837-44.
1999: Aho S; Rothenberger K; Tan E M; Ryoo Y W; Cho B H; McLean W H; Uitto J
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: Aho S; Uitto J
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: Pulkkinen L; Uitto J
Mutation analysis and molecular genetics of epidermolysis bullosa.
Matrix biology : journal of the International Society for Matrix Biology 1999;18(1):29-42.
1999: Bauer J W; Ortiz S; Hengstschläger M; Pulkkinen L; Uitto J; Hintner H; Rappersberger K
[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: Takizawa Y; Shimizu H; Rouan F; Kawai M; Udono M; Pulkkinen L; Nishikawa T; Uitto J
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.
1999: Lakkakorpi J; Li K; Decker S; Korkeela E; Piddington R; Abrams W; Bashir M; Uitto J; Rosenbloom J
Expression of the elastin promoter in novel tissue sites in transgenic mouse embryos.
Connective tissue research 1999;40(2):155-62.
1999: Uitto J
Heritable connective tissue disorders.
Advances in experimental medicine and biology 1999;455():15-21.
1998: Pulkkinen L; Uitto J
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: Takizawa Y; Shimizu H; Pulkkinen L; Suzumori K; Kakinuma H; Uitto J; Nishikawa T
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: Takizawa Y; Shimizu H; Pulkkinen L; Nonaka S; Kubo T; Kado Y; Nishikawa T; Uitto J
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: Rouan F; Pulkkinen L; Jonkman M F; Bauer J W; Cserhalmi-Friedman P B; Christiano A M; Uitto J
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: Covello S P; Irvine A D; McKenna K E; Munro C S; Nevin N C; Smith F J; Uitto J; McLean W H
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: Santana E; Peritz A E; Iyer S; Uitto J; Yoon K
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: Vindevoghel L; Lechleider R J; Kon A; de Caestecker M P; Uitto J; Roberts A B; Mauviel A
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: Mellerio J E; Pulkkinen L; McMillan J R; Lake B D; Horn H M; Tidman M J; Harper J I; McGrath J A; Uitto J; Eady R A
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: Shimizu H; Takizawa Y; Pulkkinen L; Zone J J; Matsumoto K; Saida T; Uitto J; Nishikawa T
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: Smith F J; Maingi C; Covello S P; Higgins C; Schmidt M; Lane E B; Uitto J; Leigh I M; McLean W H
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: Pulkkinen L; Rouan F; Bruckner-Tuderman L; Wallerstein R; Garzon M; Brown T; Smith L; Carter W; Uitto J
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: Aho S; Uitto J
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: Covello S P; Smith F J; Sillevis Smitt J H; Paller A S; Munro C S; Jonkman M F; Uitto J; McLean W H
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.
The British journal of dermatology 1998;139(3):475-80.
1998: Pulkkinen L; Cserhalmi-Friedman P B; Tang M; Ryan M C; Uitto J; Christiano A M
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: Kon A; Pulkkinen L; Ishida-Yamamoto A; Hashimoto I; Uitto J
Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.
The Journal of investigative dermatology 1998;111(3):534-7.
1998: Uitto J; Bernstein E F
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: Mahoney M G; Aho S; Uitto J; Stanley J R
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: Pulkkinen L; Jonkman M F; McGrath J A; Kuijpers A; Paller A S; Uitto J
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: Smith F J; Jonkman M F; van Goor H; Coleman C M; Covello S P; Uitto J; McLean W H
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: Vindevoghel L; Kon A; Lechleider R J; Uitto J; Roberts A B; Mauviel A
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: Uitto J; Boyd C D; Lebwohl M G; Moshell A N; Rosenbloom J; Terry S
International Centennial Meeting on Pseudoxanthoma Elasticum: progress in PXE research.
The Journal of investigative dermatology 1998;110(5):840-2.
1998: Takizawa Y; Pulkkinen L; Shimizu H; Lin L; Hagiwara S; Nishikawa T; Uitto J
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: Pulkkinen L; Uitto J
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: Pulkkinen L; Bruckner-Tuderman L; August C; Uitto J
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: Takeuchi T; Uitto J; Bernstein E F
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: Higashi K; Kouba D J; Song Y J; Uitto J; Mauviel A
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: Aho S; McLean W H; Li K; Uitto J
cDNA cloning, mRNA expression, and chromosomal mapping of human and mouse periplakin genes.
Genomics 1998;48(2):242-7.
1998: Aho S; Uitto J
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: Dang M; Pulkkinen L; Smith F J; McLean W H; Uitto J
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: Takizawa Y; Shimizu H; Pulkkinen L; Hiraoka Y; McGrath J A; Suzumori K; Aiso S; Uitto J; Nishikawa T
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: Darling T N; Yee C; Koh B; McGrath J A; Bauer J W; Uitto J; Hintner H; Yancey K B
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: Pulkkinen L; Kim D U; Uitto J
Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4).
The American journal of pathology 1998;152(1):157-66.
1998: Kon A; Pulkkinen L; Hara M; Tamai K; Tagami H; Hashimoto I; Uitto J
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.
1997: Christiano A M; Fine J D; Uitto J
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: Uitto J
Dohi memorial lecture. Clinical implications of basic research on heritable skin diseases.
The Journal of dermatology 1997;24(11):690-700.
1997: Bernstein E F; Brown D B; Takeuchi T; Kong S K; Uitto J
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: Kon A; Nomura K; Pulkkinen L; Sawamura D; Hashimoto I; Uitto J
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: Pulkkinen L; Bullrich F; Czarnecki P; Weiss L; Uitto J
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: Shimizu H; Sato M; Ban M; Kitajima Y; Ishizaki S; Harada T; Bruckner-Tuderman L; Fine J D; Burgeson R; Kon A; McGrath J A; Christiano A M; Uitto J; Nishikawa T
Immunohistochemical, ultrastructural, and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa.
Archives of dermatology 1997;133(9):1111-7.
1997: Christiano A M; Amano S; Eichenfield L F; Burgeson R E; Uitto J
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: Bernstein E F; Underhill C B; Lakkakorpi J; Ditre C M; Uitto J; Yu R J; Scott E V
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: Mellerio J E; Dunnill M G; Allison W; Ashton G H; Christiano A M; Uitto J; Eady R A; McGrath J A
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: Pulkkinen L; Meneguzzi G; McGrath J A; Xu Y; Blanchet-Bardon C; Ortonne J P; Christiano A M; Uitto J
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: Chavanas S; Gache Y; Tadini G; Pulkkinen L; Uitto J; Ortonne J P; Meneguzzi G
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: Teofoli P; Motoki K; Lotti T M; Uitto J; Mauviel A
Propiomelanocortin (POMC) gene expression by normal skin and keloid fibroblasts in culture: modulation by cytokines.
Experimental dermatology 1997;6(3):111-5.
1997: McMillan J R; McGrath J A; Pulkkinen L; Kon A; Burgeson R E; Ortonne J P; Meneguzzi G; Uitto J; Eady R A
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: Pulkkinen L; Kurtz K; Xu Y; Bruckner-Tuderman L; Uitto J
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: Takizawa Y; Shimizu H; Nishikawa T; Hatta N; Pulkkinen L; Uitto J
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: Del Monaco M; Covello S P; Kennedy S H; Gilinger G; Litwack G; Uitto J
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: Irvine A D; Corden L D; Swensson O; Swensson B; Moore J E; Frazer D G; Smith F J; Knowlton R G; Christophers E; Rochels R; Uitto J; McLean W H
Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy.
Nature genetics 1997;16(2):184-7.
1997: Koch P J; Mahoney M G; Ishikawa H; Pulkkinen L; Uitto J; Shultz L; Murphy G F; Whitaker-Menezes D; Stanley J R
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: Ashton G H; Mellerio J E; Dunnill M G; Pulkkinen L; Christiano A M; Uitto J; Eady R A; McGrath J A
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: Pulkkinen L; Kimonis V E; Xu Y; Spanou E N; McLean W H; Uitto J
Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia.
Human molecular genetics 1997;6(5):669-74.
1997: Christiano A M; Pulkkinen L; McGrath J A; Uitto J
Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa.
Prenatal diagnosis 1997;17(4):343-54.
1997: Vindevoghel L; Chung K Y; Davis A; Kouba D; Kivirikko S; Alder H; Uitto J; Mauviel A
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: Darling T N; McGrath J A; Yee C; Gatalica B; Hametner R; Bauer J W; Pohla-Gubo G; Christiano A M; Uitto J; Hintner H; Yancey K B
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: Shimizu H; Takizawa Y; McGrath J A; Pulkkinen L; Christiano A M; Uitto J; Burgeson R E; Iwatsuki K; Niimi N; Noguchi M; Imayama S; Abe Y; Shirakata Y; Hagiwara S; Saida T; Ogawa H; Hashimoto I; Nishikawa T
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: Motoki K; Megahed M; LaForgia S; Uitto J
Cloning and chromosomal mapping of mouse ladinin, a novel basement membrane zone component.
Genomics 1997;39(3):323-30.
1997: Pulkkinen L; McGrath J; Airenne T; Haakana H; Tryggvason K; Kivirikko S; Meneguzzi G; Ortonne J P; Christiano A M; Uitto J
Detection of novel LAMC2 mutations in Herlitz junctional epidermolysis Bullosa.
Molecular medicine (Cambridge, Mass.) 1997;3(2):124-35.
1997: Tamai K; Ishida-Yamamoto A; Matsuo S; Iizuka H; Hashimoto I; Christiano A M; Uitto J; McGrath J A
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: Jonkman M F; Scheffer H; Stulp R; Pas H H; Nijenhuis M; Heeres K; Owaribe K; Pulkkinen L; Uitto J
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion.
Cell 1997;88(4):543-51.
1997: Iozzo R V; Pillarisetti J; Sharma B; Murdoch A D; Danielson K G; Uitto J; Mauviel A
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: Gatalica B; Pulkkinen L; Li K; Kuokkanen K; Ryynänen M; McGrath J A; Uitto J
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: Kon A; McGrath J A; Pulkkinen L; Nomura K; Nakamura T; Maekawa Y; Christiano A M; Hashimoto I; Uitto J
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: Christiano A M; Hoffman G G; Zhang X; Xu Y; Tamai Y; Greenspan D S; Uitto J
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: Järvikallio A; Pulkkinen L; Uitto J
Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1).
Human mutation 1997;10(5):338-47.
1996: Uitto J; Burgeson R E; Christiano A M; Moshell A N
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: McLean W H; Pulkkinen L; Smith F J; Rugg E L; Lane E B; Bullrich F; Burgeson R E; Amano S; Hudson D L; Owaribe K; McGrath J A; McMillan J R; Eady R A; Leigh I M; Christiano A M; Uitto J
Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.
Genes & development 1996;10(14):1724-35.
1996: Silos S A; Tamai K; Li K; Kivirikko S; Kouba D; Christiano A M; Uitto J
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: Christiano A M; Bart B J; Epstein E H; Uitto J
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: Kivirikko S; Li K; Christiano A M; Uitto J
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: McGrath J A; Gatalica B; Li K; Dunnill M G; McMillan J R; Christiano A M; Eady R A; Uitto J
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: Maestrini E; Monaco A P; McGrath J A; Ishida-Yamamoto A; Camisa C; Hovnanian A; Weeks D E; Lathrop M; Uitto J; Christiano A M
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: Mauviel A; Chung K Y; Agarwal A; Tamai K; Uitto J
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: McGarth J A; Christiano A M; Pulkkinen L; Eady R A; Uitto J
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: McGrath J A; Dunnill M G; Christiano A M; Lake B D; Atherton D J; Rodeck C H; Pope F M; Eady R A; Uitto J
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: Christiano A M; Anton-Lamprecht I; Amano S; Ebschner U; Burgeson R E; Uitto J
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: Christiano A M; McGrath J A; Tan K C; Uitto J
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: McGrath J A; Kivirikko S; Ciatti S; Moss C; Christiano A M; Uitto J
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: Christiano A M; Bart B J; Epstein E H; Uitto J
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: Christiano A M; Pulkkinen L; Eady R A; Uitto J
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: McGrath J A; Darling T; Gatalica B; Pohla-Gubo G; Hintner H; Christiano A M; Yancey K; Uitto J
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: Christiano A M; McGrath J A; Uitto J
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: Christiano A M; D'Alessio M; Paradisi M; Angelo C; Mazzanti C; Puddu P; Uitto J
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: Bernstein E F; Uitto J
The effect of photodamage on dermal extracellular matrix.
Clinics in dermatology 1996;14(2):143-51.
1996: Kivirikko S; McGrath J A; Pulkkinen L; Uitto J; Christiano A M
Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa.
Human molecular genetics 1996;5(2):231-7.
1996: Bernstein E F; Chen Y Q; Kopp J B; Fisher L; Brown D B; Hahn P J; Robey F A; Lakkakorpi J; Uitto J
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: Christiano A M; Uitto J
Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa.
Experimental dermatology 1996;5(1):1-11.
1996: Chung K Y; Agarwal A; Uitto J; Mauviel A
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: Christiano A M; LaForgia S; Paller A S; McGuire J; Shimizu H; Uitto J
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.

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