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Angela Christiano

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Gina M Destefano; Katherine A Fantauzzo; Yujun Han; Vaidehi Jobanputra; Mazen Kurban; Brynn Levy; Lynn Petukhova; Yufeng Shen; Maryam Shirazi; Xiaoyun Sun; Marija Tadin-Strapps; Dorothy Warburton; Rodrigo Cepeda-Valdes; Julio Cesar Salas-Alanis; Elizabeth T Cirulli; Angela M Christiano
Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis.
M Kurban; Y Shimomura; Muhammad Wajid; Angela M Christiano
Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis.
Ali Jabbari; Lynn Petukhova; Rita M Cabral; Raphael Clynes; Angela M Christiano
Genetic basis of alopecia areata: a roadmap for translational research.

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2013: Gina M Destefano; Katherine A Fantauzzo; Yujun Han; Vaidehi Jobanputra; Mazen Kurban; Brynn Levy; Lynn Petukhova; Yufeng Shen; Maryam Shirazi; Xiaoyun Sun; Marija Tadin-Strapps; Dorothy Warburton; Rodrigo Cepeda-Valdes; Julio Cesar Salas-Alanis; Elizabeth T Cirulli; Angela M Christiano
Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis.
Proceedings of the National Academy of Sciences of the United States of America 2013;110(19):7790-5.
2013: M Kurban; Y Shimomura; Muhammad Wajid; Angela M Christiano
Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis.
Journal of the European Academy of Dermatology and Venereology : JEADV 2013;27(5):545-9.
2013: Ali Jabbari; Lynn Petukhova; Rita M Cabral; Raphael Clynes; Angela M Christiano
Genetic basis of alopecia areata: a roadmap for translational research.
Dermatologic clinics 2013;31(1):109-17.
2012: Sivan Harel; Angela M Christiano
Keratin 71 mutations: from water dogs to woolly hair.
The Journal of investigative dermatology 2012;132(10):2315-7.
2012: Alexandre Casta; Michael A Bachelor; Andrew Engelhard; Hyunmi Kim; Courtney T Luke; David M Owens; Angela M Christiano
Hairless and NFκB form a positive feedback loop after UVB and TNFα stimulation.
Photochemistry and photobiology 2012;88(5):1173-83.
2012: Regina-Celeste S Ahmad; Angela M Christiano; Mazen Kurban; Anna L Bruckner
Alopecia and generalized papular lesions in an adolescent female.
Pediatric dermatology 2012;29(4):519-20.
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: Claire A Higgins; Keita Inoue; Munenari Itoh; Colin A B Jahoda; Gavin D Richardson; Angela M Christiano
Reprogramming of human hair follicle dermal papilla cells into induced pluripotent stem cells.
The Journal of investigative dermatology 2012;132(6):1725-7.
2012: Rita M Cabral; Mazen Kurban; Lynn Petukhova; Yutaka Shimomura; Muhammad Wajid; Angela M Christiano
Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome.
Genomics 2012;99(4):202-8.
2012: Regina C Betz; Rita M Cabral; Angela M Christiano; Eli Sprecher
Unveiling the roots of monogenic genodermatoses: genotrichoses as a paradigm.
The Journal of investigative dermatology 2012;132(3 Pt 2):906-14.
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: Sivan Harel; Angela M Christiano
Genetics of structural hair disorders.
The Journal of investigative dermatology 2012;132(E1):E22-6.
2012: Katherine A Fantauzzo; Mazen Kurban; Brynn Levy; Angela M Christiano
Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis.
PLoS genetics 2012;8(11):e1003002.
2012: Hyunmi Kim; Courtney T Luke; Xiuwei Tang; Arianna L Kim; Mohammad Athar; David R Bickers; Alexandre Casta; Angela M Christiano
Loss of hairless confers susceptibility to UVB-induced tumorigenesis via disruption of NF-kappaB signaling.
PloS one 2012;7(6):e39691.
2012: Katherine A Fantauzzo; Angela M Christiano
Trps1 activates a network of secreted Wnt inhibitors and transcription factors crucial to vibrissa follicle morphogenesis.
Development (Cambridge, England) 2012;139(1):203-14.
2011: Julio C Salas-Alanis; M Amaya-Guerra; Rodrigo Cepeda-Valdés; Adriana González-Santos; Mazen Kurban; Angela M Christiano
[Mutation in the ED1, Ala349Thr in a patient with X-linked hypohidrotic ectodermal dysplasia].
Revista médica de Chile 2011;139(12):1601-4.
2011: Mazen Kurban; Lynn Petukhova; Yutaka Shimomura; Muhammad Wajid; Angela M Christiano
A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance.
Journal of human genetics 2011;56(10):701-6.
2011: Colin A B Jahoda; Angela M Christiano
Niche crosstalk: intercellular signals at the hair follicle.
Cell 2011;146(5):678-81.
2011: Julio Cesar Salas-Alanis; Rodrigo Cepeda-Valdes; Sonia Chavez-Alvarez; Angela M Christiano; Mazen Kurban; David Bickers
An unusual case of infiltrating basal cell carcinoma.
Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.] 2011;37(9):1316-8.
2011: Maija Kiuru; Mazen Kurban; Lynn Petukhova; Yutaka Shimomura; Muhammad Wajid; Munenari Itoh; Angela M Christiano
Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1.
American journal of human genetics 2011;88(6):839-44.
2011: Munenari Itoh; Maija Kiuru; Mitchell S Cairo; Angela M Christiano
Generation of keratinocytes from normal and recessive dystrophic epidermolysis bullosa-induced pluripotent stem cells.
Proceedings of the National Academy of Sciences of the United States of America 2011;108(21):8797-802.
2011: Lynn Petukhova; Rita M Cabral; Raphael Clynes; Julian Mackay-Wiggan; Angela M Christiano
The genetics of alopecia areata: What's new and how will it help our patients?
Dermatologic therapy 2011;24(3):326-36.
2011: Katherine A Fantauzzo; Angela M Christiano
There and back again: hair follicle stem cell dynamics.
Cell stem cell 2011;8(1):8-9.
2011: Mazen Kurban; Brynn Levy; Ossama Abbas; Rita Cabral; Katherine Fantauzzo; Chong Ae Kim; Maija Kiuru; Angela M Christiano
Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome.
Dermatology (Basel, Switzerland) 2011;223(4):316-20.
2011: Ming Yang Bi; Jonathan L Curry; Angela M Christiano; Maria K Hordinsky; David A Norris; Vera H Price; Madeleine Duvic
The spectrum of hair loss in patients with mycosis fungoides and Sézary syndrome.
Journal of the American Academy of Dermatology 2011;64(1):53-63.
2010: Y Shimomura; Muhammad Wajid; J Weiser; liv kraemer; Angela M Christiano
Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma.
Clinical and experimental dermatology 2010;35(7):759-64.
2010: Yutaka Shimomura; Angela M Christiano
Biology and genetics of hair.
Annual review of genomics and human genetics 2010;11():109-32.
2010: Juwon Kim; Goeun Lee; Jong Rak Choi; Mazen Kurban; Angela M Christiano; Brynn Levy; Jong Hee Kim; Sang-Hyuk Ma; Kyung-A Lee
Ambras syndrome in a Korean patient with balanced pericentric inversion (8)(p11.2q24.2).
Journal of dermatological science 2010;59(3):204-6.
2010: M Kurban; T Cheng; Muhammad Wajid; M Kiuru; Y Shimomura; Angela M Christiano
A novel mutation in the cathepsin C gene in a Pakistani family with Papillon-Lefevre syndrome.
Journal of the European Academy of Dermatology and Venereology : JEADV 2010;24(8):967-9.
2010: Lynn Petukhova; Madeleine Duvic; Maria Hordinsky; David Norris; Vera Price; Yutaka Shimomura; Hyunmi Kim; Pallavi Singh; Annette Lee; Wei V Chen; Katja C Meyer; Ralf Paus; Colin A B Jahoda; Christopher I Amos; Peter K Gregersen; Angela M Christiano
Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.
Nature 2010;466(7302):113-7.
2010: Yutaka Shimomura; Dritan Agalliu; Alin Vonica; Victor Luria; Muhammad Wajid; Alessandra Baumer; Serena Belli; Lynn Petukhova; Albert Schinzel; Ali H Brivanlou; Ben A Barres; Angela M Christiano
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex.
Nature 2010;464(7291):1043-7.
2010: Yutaka Shimomura; Muhammad Wajid; Lynn Petukhova; Mazen Kurban; Angela M Christiano
Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
American journal of human genetics 2010;86(4):632-8.
2010: Maija Kiuru; Munenari Itoh; Mitchell S Cairo; Angela M Christiano
Bone marrow stem cell therapy for recessive dystrophic epidermolysis bullosa.
Dermatologic clinics 2010;28(2):371-82, xii-xiii.
2010: Yutaka Shimomura; Muhammad Wajid; Mazen Kurban; Nobuyuki Sato; Angela M Christiano
Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia.
The Journal of investigative dermatology 2010;130(3):892-5.
2010: Mazen Kurban; Muhammad Wajid; Yutaka Shimomura; Angela M Christiano
A nonsense mutation in the SCN9A gene in congenital insensitivity to pain.
Dermatology (Basel, Switzerland) 2010;221(2):179-83.
2010: Mazen Kurban; Eleni Michailidis; Muhammad Wajid; Yutaka Shimomura; Angela M Christiano
A common founder mutation in the EDA-A1 gene in X-linked hypodontia.
Dermatology (Basel, Switzerland) 2010;221(3):243-7.
2010: Y Shimomura; Muhammad Wajid; M Kurban; Angela M Christiano
Splice site mutations in the P-cadherin gene underlie hypotrichosis with juvenile macular dystrophy.
Dermatology (Basel, Switzerland) 2010;220(3):208-12.
2010: Muhammad Wajid; Mazen Kurban; Yutaka Shimomura; Angela M Christiano
NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis.
Dermatology (Basel, Switzerland) 2010;220(1):8-14.
2009: Yutaka Shimomura; Masaaki Ito; Angela M Christiano
Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis.
Journal of dermatological science 2009;56(3):205-7.
2009: Hisham Bazzi; Shadmehr Demehri; Christopher S Potter; Alison G Barber; Alexander Awgulewitsch; Raphael Kopan; Angela M Christiano
Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation.
Differentiation; research in biological diversity 2009;78(5):292-300.
2009: Muhammad Wajid; Mazen Kurban; Yutaka Shimomura; Angela M Christiano
Mutations in the SLURP-1 gene underlie Mal de Meleda in three Pakistani families.
Journal of dermatological science 2009;56(1):27-32.
2009: Yutaka Shimomura; Muhammad Wajid; Abraham Zlotogorski; Young-Jin Lee; Robert H Rice; Angela M Christiano
Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis.
The Journal of investigative dermatology 2009;129(8):1927-34.
2009: Gavin D Richardson; Hisham Bazzi; Katherine A Fantauzzo; James M Waters; Heather Crawford; Phil Hynd; Angela M Christiano; Colin A B Jahoda
KGF and EGF signalling block hair follicle induction and promote interfollicular epidermal fate in developing mouse skin.
Development (Cambridge, England) 2009;136(13):2153-64.
2009: Martha B Dua-Awereh; Yutaka Shimomura; liv kraemer; Muhammad Wajid; Angela M Christiano
Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma.
Journal of dermatological science 2009;53(3):192-7.
2009: Yutaka Shimomura; Muhammad Wajid; Lynn Petukhova; Lawrence Shapiro; Angela M Christiano
Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis.
The Journal of investigative dermatology 2009;129(3):622-8.
2009: Yutaka Shimomura; Maria C Garzon; Leonard Kristal; Lawrence Shapiro; Angela M Christiano
Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene.
Experimental dermatology 2009;18(3):218-21.
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: Mazen Kurban; Muhammad Wajid; Yutaka Shimomura; Ruba Bahhady; Abdul-Ghani Kibbi; Angela M Christiano
Evidence for a founder mutation in the cathepsin C gene in three families with Papillon-Lefèvre syndrome.
Dermatology (Basel, Switzerland) 2009;219(4):289-94.
2009: Lynn Petukhova; Yutaka Shimomura; Muhammad Wajid; Prakash Gorroochurn; Susan E Hodge; Angela M Christiano
The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis.
Human heredity 2009;68(2):117-30.
2008: Katherine A Fantauzzo; Marija Tadin-Strapps; Yun You; Sarah E Mentzer; Friedrich A M Baumeister; Stefano Cianfarani; Lionel Van Maldergem; Dorothy Warburton; John P Sundberg; Angela M Christiano
A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice.
Human molecular genetics 2008;17(22):3539-51.
2008: Lynn Petukhova; Edilson C Sousa; Amalia Martinez-Mir; Anna Vitebsky; Lina G Dos Santos; Lawrence Shapiro; Chad Haynes; Derek Gordon; Yutaka Shimomura; Angela M Christiano
Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.
Genomics 2008;92(5):273-8.
2008: Philip Owens; Hisham Bazzi; Erin Engelking; Gangwen Han; Angela M Christiano; Xiao-Jing Wang
Smad4-dependent desmoglein-4 expression contributes to hair follicle integrity.
Developmental biology 2008;322(1):156-66.
2008: A Akman; M Masse; E Mihci; G Richard; Angela M Christiano; B J Balle; M A Ciftcioglu; E Alpsoy
Progressive symmetrical erythrokeratoderma: report of a Turkish family and evaluation for loricrin and connexin gene mutations.
Clinical and experimental dermatology 2008;33(5):582-4.
2008: Angela M Christiano
Hair follicle epithelial stem cells get their sox on.
Cell stem cell 2008;3(1):3-4.
2008: S Amorosi; M D'Armiento; Giuseppe Calcagno; I Russo; Marsilio Adriani; Angela M Christiano; L Weiner; J L Brissette; Claudio Pignata
FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus.
Clinical genetics 2008;73(4):380-4.
2008: liv kraemer; Muhammad Wajid; Yutaka Shimomura; Angela M Christiano
Mutations in the hairless gene underlie APL in three families of Pakistani origin.
Journal of dermatological science 2008;50(1):25-30.
2008: Yoshiyuki Ishii; Muhammad Wajid; Hisham Bazzi; Katherine A Fantauzzo; Alison G Barber; Diana C Blaydon; Ju-Suk Nam; Jeong K Yoon; David P Kelsell; Angela M Christiano
Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia.
The Journal of investigative dermatology 2008;128(4):867-70.
2008: Yutaka Shimomura; Muhammad Wajid; Yoshiyuki Ishii; Lawrence Shapiro; Lynn Petukhova; Derek Gordon; Angela M Christiano
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair.
Nature genetics 2008;40(3):335-9.
2008: Andrew Engelhard; Robert C Bauer; Alexandre Casta; Karima Djabali; Angela M Christiano
Ligand-independent regulation of the hairless promoter by vitamin D receptor.
Photochemistry and photobiology 2008;84(2):515-21.
2008: Yutaka Shimomura; Muhammad Wajid; Lawrence Shapiro; Angela M Christiano
P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle.
Development (Cambridge, England) 2008;135(4):743-53.
2008: Katherine A Fantauzzo; Hisham Bazzi; Colin A B Jahoda; Angela M Christiano
Dynamic expression of the zinc-finger transcription factor Trps1 during hair follicle morphogenesis and cycling.
Gene expression patterns : GEP 2008;8(2):51-7.
2008: Nazila Barahmani; Mariza de Andrade; Joshua P Slusser; Qingyi Wei; Maria Hordinsky; Vera H Price; Angela M Christiano; David Norris; John D Reveille; Madeleine Duvic
Human leukocyte antigen class II alleles are associated with risk of alopecia areata.
The Journal of investigative dermatology 2008;128(1):240-3.
2007: Hyunmi Kim; Muhammad Wajid; liv kraemer; Yutaka Shimomura; Angela M Christiano
Nonsense mutations in the hairless gene underlie APL in five families of Pakistani origin.
Journal of dermatological science 2007;48(3):207-11.
2007: Hisham Bazzi; Angela M Christiano
Broken hearts, woolly hair, and tattered skin: when desmosomal adhesion goes awry.
Current opinion in cell biology 2007;19(5):515-20.
2007: Eleni Michailidis; Amy Theos; Abraham Zlotogorski; Amalia Martinez-Mir; Angela M Christiano
Atrichia with papular lesions resulting from novel compound heterozygous mutations in the human hairless gene.
Pediatric dermatology 2007;24(5):E79-82.
2007: Muhammad Wajid; Hisham Bazzi; Jonathan Rockey; Jillian Lubetkin; Abraham Zlotogorski; Angela M Christiano
Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family.
The Journal of investigative dermatology 2007;127(7):1779-82.
2007: Hisham Bazzi; Katherine A Fantauzzo; Gavin D Richardson; Colin A B Jahoda; Angela M Christiano
The Wnt inhibitor, Dickkopf 4, is induced by canonical Wnt signaling during ectodermal appendage morphogenesis.
Developmental biology 2007;305(2):498-507.
2007: Hisham Bazzi; Katherine A Fantauzzo; Gavin D Richardson; Colin A B Jahoda; Angela M Christiano
Transcriptional profiling of developing mouse epidermis reveals novel patterns of coordinated gene expression.
Developmental dynamics : an official publication of the American Association of Anatomists 2007;236(4):961-70.
2007: Alison G Barber; Muhammad Wajid; Morgana Columbo; Jillian Lubetkin; Angela M Christiano
Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene.
Journal of dermatological science 2007;45(3):161-6.
2007: Amalia Martinez-Mir; Abraham Zlotogorski; Derek Gordon; Lynn Petukhova; Jianhong Mo; T Conrad Gilliam; Douglas Londono; Chad Haynes; Jurg Ott; Maria Hordinsky; Krassimira Nanova; David Norris; Vera H Price; Madeleine Duvic; Angela M Christiano
Genomewide scan for linkage reveals evidence of several susceptibility loci for alopecia areata.
American journal of human genetics 2007;80(2):316-28.
2006: liv kraemer; Muhammad Wajid; Angela M Christiano
A glycine substitution in the COL7A1 gene causes mild RDEB in a Pakistani family.
European journal of dermatology : EJD 2006;16(6):615-9.
2006: Diana C Blaydon; Yoshiyuki Ishii; Edel A O'Toole; Harriet C Unsworth; Muy-Teck Teh; Franz Rüschendorf; Claire Sinclair; Väinö K Hopsu-Havu; Nicholas Tidman; Celia Moss; Rosemarie Watson; David de Berker; Muhammad Wajid; Angela M Christiano; David P Kelsell
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.
Nature genetics 2006;38(11):1245-7.
2006: G Ashoor; Maureen Massé; L M García Luciano; R Sheffer; Amalia Martinez-Mir; Angela M Christiano; Abraham Zlotogorski
A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma.
The British journal of dermatology 2006;155(1):198-200.
2006: Julie V Schaffer; Hisham Bazzi; Anna Vitebsky; Agnieszka Witkiewicz; Olympia I Kovich; Hideko Kamino; Lawrence S Shapiro; Snehal P Amin; Seth J Orlow; Angela M Christiano
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions.
The Journal of investigative dermatology 2006;126(6):1286-91.
2006: F Patrick Ross; Angela M Christiano
Nothing but skin and bone.
The Journal of clinical investigation 2006;116(5):1140-9.
2006: Hisham Bazzi; Alison Getz; My G Mahoney; Akemi Ishida-Yamamoto; Lutz Langbein; James K Wahl; Angela M Christiano
Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle.
Differentiation; research in biological diversity 2006;74(2-3):129-40.
2006: My G Mahoney; Ying Hu; Donna Brennan; Hisham Bazzi; Angela M Christiano; James K Wahl
Delineation of diversified desmoglein distribution in stratified squamous epithelia: implications in diseases.
Experimental dermatology 2006;15(2):101-9.
2006: Gary S Chuang; Amalia Martinez-Mir; Danielle E Engler; Robyn F Gmyrek; Abraham Zlotogorski; Angela M Christiano
Multiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase gene.
Clinical and experimental dermatology 2006;31(1):118-21.
2005: Amalia Martinez-Mir; Abraham Zlotogorski; Angela M Christiano
Search for susceptibility genes in alopecia areata.
The journal of investigative dermatology. Symposium proceedings / the Society for Investigative Dermatology, Inc. [and] European Society for Dermatological Research 2005;10(3):281-2.
2005: Hisham Bazzi; Amalia Martinez-Mir; Ana Kljuic; Angela M Christiano
Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats.
The journal of investigative dermatology. Symposium proceedings / the Society for Investigative Dermatology, Inc. [and] European Society for Dermatological Research 2005;10(3):222-4.
2005: Andrew G Messenger; Hisham Bazzi; Richard Parslew; Lawrence Shapiro; Angela M Christiano
A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis.
The Journal of investigative dermatology 2005;125(5):1077-9.
2005: Ghalia G Ashoor; Robert M Greenstein; HaMut Lam; Amalia Martinez-Mir; Abraham Zlotogorski; Angela M Christiano
Novel compound heterozygous nonsense mutations in the hairless gene causing atrichia with papular lesions.
Journal of dermatological science 2005;40(1):29-33.
2005: Mauro Paradisi; Maureen Massé; Amalia Martinez-Mir; HaMut Lam; Cristina Pedicelli; Angela M Christiano
Identification of a novel splice site mutation in the human hairless gene underlying atrichia with papular lesions.
European journal of dermatology : EJD 2005;15(5):332-8.
2005: Maureen Massé; Amalia Martinez-Mir; HaMut Lam; M T Geraghty; Angela M Christiano
Identification of a recurrent mutation in the human hairless gene underlying atrichia with papular lesions.
Clinical and experimental dermatology 2005;30(4):363-5.
2005: Luigi Auricchio; Marsilio Adriani; Jorge Frank; Rosanna Busiello; Angela M Christiano; Claudio Pignata
Nail dystrophy associated with a heterozygous mutation of the nude/SCID human FOXN1 (WHN) gene.
Archives of dermatology 2005;141(5):647-8.
2005: Maureen Massé; Peter B Cserhalmi-Friedman; V Falanga; Julide Tok Celebi; Amalia Martinez-Mir; Angela M Christiano
Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa.
Clinical and experimental dermatology 2005;30(3):289-93.
2005: Aaron Turkish; Annette Henneberry; Debra Cromley; Mahajabeen Padamsee; Peter Oelkers; Hisham Bazzi; Angela M Christiano; Jeffrey T Billheimer; Stephen L. Sturley
Identification of two novel human acyl-CoA wax alcohol acyltransferases: members of the diacylglycerol acyltransferase 2 (DGAT2) gene superfamily.
The Journal of biological chemistry 2005;280(15):14755-64.
2005: Gary S Chuang; Amalia Martinez-Mir; Adam S Geyer; Danielle E Engler; Benjamin Glaser; Peter B Cserhalmi-Friedman; Derek Gordon; Liran Horev; Barbara Lukash; Eric Herman; Manuel Prieto Cid; Sarah Brenner; Marina Landau; Eli Sprecher; Maria Pilar Garcia Muret; Angela M Christiano; Abraham Zlotogorski
Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata.
Journal of the American Academy of Dermatology 2005;52(3 Pt 1):410-6.
2005: Kazuhiko Nakabayashi; Daniela Amann; Yan Ren; Ulpu Saarialho-Kere; Nili Avidan; Simone Gentles; Jeffrey R MacDonald; Erik G Puffenberger; Angela M Christiano; Amalia Martinez-Mir; Julio C Salas-Alanis; Renata Rizzo; Esther Vamos; Anja Raams; Clifford M Les; Eric Seboun; Nicolaas G J Jaspers; Jacques Beckmann; Charles E Jackson; Stephen W Scherer
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.
American journal of human genetics 2005;76(3):510-6.
2005: Ien Chan; T Wong; Amalia Martinez-Mir; Angela M Christiano; John A McGrath
Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer.
Clinical and experimental dermatology 2005;30(1):75-8.
2004: Birgit Meyer; Hisham Bazzi; Vaclav Zidek; Alena Musilova; Michal Pravenec; theodore kurtz; Peter Nurnberg; Angela M Christiano
A spontaneous mutation in the desmoglein 4 gene underlies hypotrichosis in a new lanceolate hair rat model.
Differentiation; research in biological diversity 2004;72(9-10):541-7.
2004: Hyunmi Kim; Andrey Panteleyev; Colin A B Jahoda; Yoshiyaki Ishii; Angela M Christiano
Genomic organization and analysis of the hairless gene in four hypotrichotic rat strains.
Mammalian genome : official journal of the International Mammalian Genome Society 2004;15(12):975-81.
2004: Hisham Bazzi; Ana Kljuic; Angela M Christiano; Angela M Christiano; Andrey Panteleyev
Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo "hairless" rat.
Differentiation; research in biological diversity 2004;72(8):450-64.
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: Karima Djabali; Angela M Christiano
Hairless contains a novel nuclear matrix targeting signal and associates with histone deacetylase 3 in nuclear speckles.
Differentiation; research in biological diversity 2004;72(8):410-8.
2004: Hendrik Uyttendaele; Andrey Panteleyev; David de Berker; Desmond T Tobin; Angela M Christiano
Activation of Notch1 in the hair follicle leads to cell-fate switch and Mohawk alopecia.
Differentiation; research in biological diversity 2004;72(8):396-409.
2004: Ryan O'Shaughnessy; Angela M Christiano; Colin A B Jahoda
The role of BMP signalling in the control of ID3 expression in the hair follicle.
Experimental dermatology 2004;13(10):621-9.
2004: Ryan O'Shaughnessy; Weeteck Yeo; Jean Gautier; Colin A B Jahoda; Angela M Christiano
The WNT signalling modulator, Wise, is expressed in an interaction-dependent manner during hair-follicle cycling.
The Journal of investigative dermatology 2004;123(4):613-21.
2004: Angela M Christiano
Epithelial stem cells: stepping out of their niche.
Cell 2004;118(5):530-2.
2004: Celia Moss; Amalia Martinez-Mir; HaMut Lam; Marija Tadin-Strapps; Ana Kljuic; Angela M Christiano
A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis.
The Journal of investigative dermatology 2004;123(3):607-10.
2004: Marija Tadin-Strapps; Dorothy Warburton; Julio C Salas-Alanis; L D Lopez-Cepeda; Angela M Christiano
Fishing for new genes in skin biology: impact of cytogenetics on gene discovery.
Clinical genetics 2004;66(2):94-106.
2004: Marsilio Adriani; A Martinez-Mir; Francesca Fusco; Rosanna Busiello; Jorge Frank; S Telese; Eliana Matrecano; Matilde Valeria Ursini; Angela M Christiano; Claudio Pignata
Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population.
Annals of human genetics 2004;68(Pt 3):265-8.
2004: Gary S Chuang; Amalia Martinez-Mir; H-S Yu; F-Y Sung; R Y Chuang; Peter B Cserhalmi-Friedman; Angela M Christiano
A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa.
Clinical and experimental dermatology 2004;29(3):304-7.
2004: Colin A B Jahoda; Ana Kljuic; Ryan O'Shaughnessy; Neil Crossley; C Jenna Whitehouse; Mark Robinson; Amanda J Reynolds; Michel Demarchez; Rebecca M Porter; Lawrence Shapiro; Angela M Christiano
The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene.
Genomics 2004;83(5):747-56.
2004: Ana Kljuic; Robert C Bauer; Angela M Christiano
Genomic organization of mouse desmocollin genes reveals evolutionary conservation.
DNA sequence : the journal of DNA sequencing and mapping 2004;15(2):148-52.
2004: Matthias Schmuth; Joachim W Fluhr; Debra Crumrine; Yoshikazu Uchida; Jean-Pierre Hachem; Martin J Behne; David G Moskowitz; Angela M Christiano; Kenneth R Feingold; Peter M Elias
Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis).
The Journal of investigative dermatology 2004;122(4):909-22.
2004: Andrew Engelhard; Angela M Christiano
The hairless promoter is differentially regulated by thyroid hormone in keratinocytes and neuroblastoma cells.
Experimental dermatology 2004;13(4):257-64.
2004: Karima Djabali; Abraham Zlotogorski; Aryeh Metzker; Dan Ben-Amitai; Angela M Christiano
Interaction of hairless and thyroid hormone receptor is not involved in the pathogenesis of atrichia with papular lesions.
Experimental dermatology 2004;13(4):251-6.
2004: Peter B Cserhalmi-Friedman; Andrey Panteleyev; Angela M Christiano
Recapitulation of the hairless mouse phenotype using catalytic oligonucleotides: implications for permanent hair removal.
Experimental dermatology 2004;13(3):155-62.
2004: Marija Tadin-Strapps; Dorothy Warburton; F A M Baumeister; SG Fischer; J Yonan; T Conrad Gilliam; Angela M Christiano
Cloning of the breakpoints of a de novo inversion of chromosome 8, inv (8)(p11.2q23.1) in a patient with Ambras syndrome.
Cytogenetic and genome research 2004;107(1-2):68-76.
2004: Ryan O'Shaughnessy; Angela M Christiano
Inherited disorders of the skin in human and mouse: from development to differentiation.
The International journal of developmental biology 2004;48(2-3):171-9.
2003: Liran Horev; Karima Djabali; Jack Green; Rodney Sinclair; Amalia Martinez-Mir; Arieh Ingber; Angela M Christiano; Abraham Zlotogorski
De novo mutations in monilethrix.
Experimental dermatology 2003;12(6):882-5.
2003: Amalia Martinez-Mir; Abraham Zlotogorski; D Londono; Derek Gordon; Adina Grunn; E Uribe; Liran Horev; I M Ruiz; N O Davalos; O Alayan; Jianjun Liu; T Conrad Gilliam; Julio C Salas-Alanis; Angela M Christiano
Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24.
Journal of medical genetics 2003;40(12):872-8.
2003: Abraham Zlotogorski; Ze'ev Hochberg; Paradi Mirmirani; Aryeh Metzker; Dan Ben-Amitai; Amalia Martinez-Mir; Andrey Panteleyev; Angela M Christiano
Clinical and pathologic correlations in genetically distinct forms of atrichia.
Archives of dermatology 2003;139(12):1591-6.
2003: Peter B Cserhalmi-Friedman; Karima Djabali; Harry C Dietz; Angela M Christiano
Strategy to assess the efficiency of U1 RNA-hammerhead ribozyme constructs using GFP-tagged targets.
Experimental dermatology 2003;12(5):712-5.
2003: Amalia Martinez-Mir; Benjamin Glaser; Gary S Chuang; Liran Horev; Arie Waldman; Danielle E Engler; Derek Gordon; Lynda J Spelman; Ioannis Hatzibougias; Jack Green; Angela M Christiano; Abraham Zlotogorski
Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata.
The Journal of investigative dermatology 2003;121(4):741-4.
2003: Madeleine Duvic; David Norris; Angela M Christiano; Maria Hordinsky; Vera H Price
Alopecia areata registry: an overview.
The journal of investigative dermatology. Symposium proceedings / the Society for Investigative Dermatology, Inc. [and] European Society for Dermatological Research 2003;8(2):219-21.
2003: Amalia Martinez-Mir; Abraham Zlotogorski; Jurg Ott; Derek Gordon; Angela M Christiano
Genetic linkage studies in alopecia areata.
The journal of investigative dermatology. Symposium proceedings / the Society for Investigative Dermatology, Inc. [and] European Society for Dermatological Research 2003;8(2):199-203.
2003: Mauro Paradisi; Gary S Chuang; Corrado Angelo; Cristina Pedicelli; Amalia Martinez-Mir; Angela M Christiano
Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene.
Clinical and experimental dermatology 2003;28(5):535-8.
2003: Ana Kljuic; Leon Gilead; Amalia Martinez-Mir; Jorge Frank; Angela M Christiano; Abraham Zlotogorski
A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma.
Experimental dermatology 2003;12(4):523-7.
2003: Amy S Paller; George Varigos; Aryeh Metzker; Robert C Bauer; Jacinta Opie; Amalia Martinez-Mir; Angela M Christiano; Abraham Zlotogorski
Compound heterozygous mutations in the hairless gene in atrichia with papular lesions.
The Journal of investigative dermatology 2003;121(2):430-2.
2003: Andrey Panteleyev; Pamela J Mitchell; Ralf Paus; Angela M Christiano
Expression patterns of the transcription factor AP-2alpha during hair follicle morphogenesis and cycling.
The Journal of investigative dermatology 2003;121(1):13-9.
2003: Kimberley M Ward; Fran Cook-Bolden; Angela M Christiano; Julide Tok Celebi
Identification of a recurrent mutation in keratin 6a in a patient with overlapping clinical features of pachyonychia congenita types 1 and 2.
Clinical and experimental dermatology 2003;28(4):434-6.
2003: Rodney Sinclair; Damian Jolley; Rica Mallari; Jill Magee; Antonella Tosti; Bianca Maria Piracinni; C Vincenzi; Rudolf Happle; Juan Ferrando; Ramon Grimalt; Leroy Thérèse; Dominique Van Neste; Abraham Zlotogorski; Angela M Christiano; David A Whiting
Morphological approach to hair disorders.
The journal of investigative dermatology. Symposium proceedings / the Society for Investigative Dermatology, Inc. [and] European Society for Dermatological Research 2003;8(1):56-64.
2003: Robert M Lavker; Tung-Tien Sun; Hideo Oshima; Yann Barrandon; Masashi Akiyama; Corinne Ferraris; Genevieve Chevalier; Bertrand Favier; Colin A B Jahoda; Danielle Dhouailly; Andrey Panteleyev; Angela M Christiano
Hair follicle stem cells.
The journal of investigative dermatology. Symposium proceedings / the Society for Investigative Dermatology, Inc. [and] European Society for Dermatological Research 2003;8(1):28-38.
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: Guofang Hu; Mehmet Yildirim; Vahide Baysal; Ozlem Yerebakan; Ertan Yilmaz; H Serhat Inaloz; Amalia Martinez-Mir; Angela M Christiano; Julide Tok Celebi
A recurrent mutation in the ARS (component B) gene encoding SLURP-1 in Turkish families with mal de Meleda: evidence of a founder effect.
The Journal of investigative dermatology 2003;120(6):967-9.
2003: Marija Tadin-Strapps; Julio C Salas-Alanis; L Moreno; Dorothy Warburton; Amalia Martinez-Mir; Angela M Christiano
Congenital universal hypertrichosis with deafness and dental anomalies inherited as an X-linked trait.
Clinical genetics 2003;63(5):418-22.
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: Karima Djabali; Andrey Panteleyev; T Lalin; Maria C Garzon; B Jack Longley; David R Bickers; Abraham Zlotogorski; Angela M Christiano
Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix.
Clinical and experimental dermatology 2003;28(2):206-10.
2003: Ana Kljuic; Angela M Christiano
A novel mouse desmosomal cadherin family member, desmoglein 1 gamma.
Experimental dermatology 2003;12(1):20-9.
2003: Liran Horev; T Waran Lalin; Amalia Martinez-Mir; Bita Bagheri; Marija Tadin-Strapps; Paul Schneiderman; Marc E Grossman; D R Bickers; Angela M Christiano
Identification of mutations in the COL7A1 gene in a proband with mild recessive dystrophic epidermolysis bullosa and aortic insufficiency.
Clinical and experimental dermatology 2003;28(1):80-4.
2002: Peter B Cserhalmi-Friedman; Kwame Anyane-Yeboa; Angela M Christiano
Paternal germline mosaicism in Herlitz junctional epidermolysis bullosa.
Experimental dermatology 2002;11(5):468-70.
2002: Wolfram Henn; Abraham Zlotogorski; HaMut Lam; Amalia Martinez-Mir; Hansotto Zaun; Angela M Christiano
Atrichia with papular lesions resulting from compound heterozygous mutations in the hairless gene: A lesson for differential diagnosis of alopecia universalis.
Journal of the American Academy of Dermatology 2002;47(4):519-23.
2002: Nancy S Day; Marija Tadin; Angela M Christiano; Patricia Lanzano; Sergio Piomelli; Stephen Brown
Rapid prenatal diagnosis of sickle cell diseases using oligonucleotide ligation assay coupled with laser-induced capillary fluorescence detection.
Prenatal diagnosis 2002;22(8):686-91.
2002: Ivan Bergstein; Philip L Leopold; Noboru Sato; Andrey Panteleyev; Angela M Christiano; Ronald Crystal
In vivo enhanced expression of patched dampens the sonic hedgehog pathway.
Molecular therapy : the journal of the American Society of Gene Therapy 2002;6(2):258-64.
2002: Abraham Zlotogorski; Andrey Panteleyev; Vincent M Aita; Angela M Christiano
Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions.
The Journal of investigative dermatology 2002;118(5):887-90.
2002: Abraham Zlotogorski; Amalia Martinez-Mir; Jack Green; HaMut Lamdagger; Andrei A Panteleyevdagger; Rodney Sinclair; Angela M Christiano
Evidence for pseudodominant inheritance of atrichia with papular lesions.
The Journal of investigative dermatology 2002;118(5):881-6.
2002: Amalia Martinez-Mir; Derek Gordon; Liran Horev; Laurent Klapholz; Jurg Ott; Angela M Christiano; Abraham Zlotogorski
Multiple cutaneous and uterine leiomyomas: refinement of the genetic locus for multiple cutaneous and uterine leiomyomas on chromosome 1q42.3-43.
The Journal of investigative dermatology 2002;118(5):876-80.
2002: Karima Djabali; Amalia Martinez-Mir; Liran Horev; Angela M Christiano; Abraham Zlotogorski
Evidence for extensive locus heterogeneity in Naxos disease.
The Journal of investigative dermatology 2002;118(3):557-60.
2002: Amalia Martinez-Mir; Jianjun Liu; Derek Gordon; Madeline S Weiner; Wasim Ahmad; Jo-David Fine; Jurg Ott; T Conrad Gilliam; Angela M Christiano
EB simplex superficialis resulting from a mutation in the type VII collagen gene.
The Journal of investigative dermatology 2002;118(3):547-9.
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: Wasim Ahmad; Marion S Ratterree; Andrey Panteleyev; Vincent M Aita; John P Sundberg; Angela M Christiano
Atrichia with papular lesions resulting from mutations in the rhesus macaque (Macaca mulatta) hairless gene.
Laboratory animals 2002;36(1):61-7.
2001: Abraham Zlotogorski; Andrey Panteleyev; Vincent M Aita; Angela M Christiano
Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions.
The Journal of investigative dermatology 2001;117(6):1662-5.
2001: Peter B Cserhalmi-Friedman; Maria C Garzon; E Guzman; Amalia Martinez-Mir; Wendy Chung; Kwame Anyane-Yeboa; Angela M Christiano
Maternal germline mosaicism in dominant dystrophic epidermolysis bullosa.
The Journal of investigative dermatology 2001;117(5):1327-8.
2001: Ryan O'Shaughnessy; Angela M Christiano
Stem cells in the epidermis.
Skin pharmacology and applied skin physiology 2001;14(6):350-7.
2001: Andrey Panteleyev; Colin A B Jahoda; Angela M Christiano
Hair follicle predetermination.
Journal of cell science 2001;114(Pt 19):3419-31.
2001: Colin A B Jahoda; RF Oliver; Amanda J Reynolds; J C Forrester; J W Gillespie; P B Cserhalmi-Friedman; Angela M Christiano; K A Horne
Trans-species hair growth induction by human hair follicle dermal papillae.
Experimental dermatology 2001;10(4):229-37.
2001: M Tadin; E Braverman; S Cianfarani; A J Sobrino; B Levy; Angela M Christiano; Dorothy Warburton
Complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome.
American journal of medical genetics 2001;102(1):100-4.
2001: J Frank; Frank K Jugert; Hans F Merk; K Kalka; G Goerz; K Anderson; David R Bickers; Maureen B Poh-Fitzpatrick; Angela M Christiano
A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria.
The Journal of investigative dermatology 2001;116(5):821-3.
2001: Peter B Cserhalmi-Friedman; L M Milstone; Angela M Christiano
Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene.
The British journal of dermatology 2001;144(4):726-30.
2001: Peter B Cserhalmi-Friedman; J A Frank; Wasim Ahmad; Andrey Panteleyev; Vincent M Aita; Angela M Christiano
Structural analysis reflects the evolutionary relationship between the human desmocollin gene family members.
Experimental dermatology 2001;10(2):95-9.
2001: J Frank; Peter B Cserhalmi-Friedman; Wasim Ahmad; Andrey Panteleyev; Vincent M Aita; Angela M Christiano
Characterization of the desmosomal cadherin gene family: genomic organization of two desmoglein genes on human chromosome 18q12.
Experimental dermatology 2001;10(2):90-4.
2001: Peter B Cserhalmi-Friedman; K A Yeboa; Angela M Christiano
DNA based molecular analysis in the rapid diagnosis of Herlitz junctional epidermolysis bullosa.
Clinical and experimental dermatology 2001;26(2):205-7.
2001: Claudio Pignata; L Gaetaniello; Anna Maria Masci; Jorge Frank; Angela M Christiano; Eliana Matrecano; luigi racioppi
Human equivalent of the mouse Nude/SCID phenotype: long-term evaluation of immunologic reconstitution after bone marrow transplantation.
Blood 2001;97(4):880-5.
2001: Andrey Panteleyev; Angela M Christiano
The Charles River "hairless" rat mutation is distinct from the hairless mouse alleles.
Comparative medicine 2001;51(1):49-55.
2001: Peter B Cserhalmi-Friedman; PF Olson; M Koch; Marie-France Champliaud; William J Brunken; Robert E Burgeson; Angela M Christiano
Structural analysis and mutation detection strategy for the human LAMC3 gene.
Biochemical and biophysical research communications 2001;280(1):39-44.
2001: J Frank; Vincent M Aita; Wasim Ahmad; HaMut Lam; C Wolff; Angela M Christiano
Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile.
Human heredity 2001;51(3):160-8.
2001: Karima Djabali; Vincent M Aita; Angela M Christiano
Hairless is translocated to the nucleus via a novel bipartite nuclear localization signal and is associated with the nuclear matrix.
Journal of cell science 2001;114(Pt 2):367-76.
2000: Andrey Panteleyev; Renate Thiel; T Rosenbach; Angela M Christiano
Acne chlorina and acne vulgaris--casual likeness or casual homology?
Archives of dermatological research 2000;292(11):577-81.
2000: Andrey Panteleyev; T Rosenbach; Ralf Paus; Angela M Christiano
The bulge is the source of cellular renewal in the sebaceous gland of mouse skin.
Archives of dermatological research 2000;292(11):573-6.
2000: Andrey Panteleyev; Ralf Paus; Angela M Christiano
Patterns of hairless (hr) gene expression in mouse hair follicle morphogenesis and cycling.
The American journal of pathology 2000;157(4):1071-9.
2000: Vincent M Aita; Abraham Zlotogorski; Angela M Christiano
Settling the score on hairless.
The Journal of investigative dermatology 2000;115(4):761-4.
2000: Peter B Cserhalmi-Friedman; Y Tang; A Adler; Lewis C Krey; James A Grifo; Angela M Christiano
Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa.
Experimental dermatology 2000;9(4):290-7.
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: 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: Ingrid Warmuth; Peter B Cserhalmi-Friedman; Paul Schneiderman; Marc E Grossman; Angela M Christiano
Epidermolytic palmoplantar keratoderma in a Hispanic kindred resulting from a mutation in the keratin 9 gene.
Clinical and experimental dermatology 2000;25(3):244-6.
2000: Peter B Cserhalmi-Friedman; R Squeo; D Gordon; Maria C Garzon; Paul Schneiderman; Marc E Grossman; Angela M Christiano
Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene.
Clinical and experimental dermatology 2000;25(3):241-3.
2000: Vincent M Aita; Wasim Ahmad; Andrey Panteleyev; U Kozlowska; A Kozlowska; T Conrad Gilliam; S Jablonska; Angela M Christiano
A novel missense mutation (C622G) in the zinc-finger domain of the human hairless gene associated with congenital atrichia with papular lesions.
Experimental dermatology 2000;9(2):157-62.
2000: Andrey Panteleyev; Angela M Christiano; Thomas G O'Brien; John P Sundberg
Ornithine decarboxylase transgenic mice as a model for human atrichia with papular lesions.
Experimental dermatology 2000;9(2):146-51.
1999: Wasim Ahmad; Andrey Panteleyev; Angela M Christiano
The molecular basis of congenital atrichia in humans and mice: mutations in the hairless gene.
The journal of investigative dermatology. Symposium proceedings / the Society for Investigative Dermatology, Inc. [and] European Society for Dermatological Research 1999;4(3):240-3.
1999: E J Michael; Paul Schneiderman; Marc E Grossman; Angela M Christiano
Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene.
Experimental dermatology 1999;8(6):501-3.
1999: Vincent M Aita; Angela M Christiano; T Conrad Gilliam
Mapping complex traits in diseases of the hair and skin.
Experimental dermatology 1999;8(6):439-52.
1999: Amanda J Reynolds; C Lawrence; P B Cserhalmi-Friedman; Angela M Christiano; Colin A B Jahoda
Trans-gender induction of hair follicles.
Nature 1999;402(6757):33-4.
1999: W Ahmad; Andrey Panteleyev; Angela M Christiano
Molecular basis of congenital atrichia in humans and mice.
Cutis; cutaneous medicine for the practitioner 1999;64(4):269-76.
1999: Robert Moraru; Peter B Cserhalmi-Friedman; Marc E Grossman; Paul Schneiderman; Angela M Christiano
Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene.
Clinical and experimental dermatology 1999;24(5):412-5.
1999: J Frank; John A McGrath; Maureen B Poh-Fitzpatrick; J L Hawk; Angela M Christiano
Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria.
Clinical and experimental dermatology 1999;24(4):296-301.
1999: J Frank; J Nelson; Xiuhua Wang; Liu Yang; Wasim Ahmad; HaMut Lam; Frank K Jugert; K Kalka; Maureen B Poh-Fitzpatrick; G Goerz; Hans F Merk; Angela M Christiano
Erythropoietic protoporphyria: identification of novel mutations in the ferrochelatase gene and comparison of biochemical markers versus molecular analysis as diagnostic strategies.
Journal of investigative medicine : the official publication of the American Federation for Clinical Research 1999;47(6):278-84.
1999: Jorge Frank; Claudio Pignata; Andrey Panteleyev; David Prowse; Howard P Baden; Lorin Weiner; L Gaetaniello; Wasim Ahmad; N Pozzi; Peter B Cserhalmi-Friedman; Vincent M Aita; Hendrik Uyttendaele; D Gordon; Jurg Ott; Janice L Brissette; Angela M Christiano
Exposing the human nude phenotype.
Nature 1999;398(6727):473-4.
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: Peter B Cserhalmi-Friedman; J Grossman; Sarolta Kárpáti; Wasim Ahmad; A Horvath; Angela M Christiano
Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa.
Experimental dermatology 1999;8(2):143-5.
1999: J Tok; Maria C Garzon; Peter B Cserhalmi-Friedman; H M Lam; J L Spitz; Angela M Christiano
Identification of mutations in the transglutaminase 1 gene in lamellar ichthyosis.
Experimental dermatology 1999;8(2):128-33.
1999: Wasim Ahmad; Abraham Zlotogorski; Andrey Panteleyev; HaMut Lam; M Ahmad; M Faiyaz ul Haque; H M Abdallah; L Dragan; Angela M Christiano
Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family.
Genomics 1999;56(2):141-8.
1998: Peter B Cserhalmi-Friedman; John A McGrath; J E Mellerio; R Romero; Julio C Salas-Alanis; A S Paller; Harry C Dietz; Angela M Christiano
Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene.
Laboratory investigation; a journal of technical methods and pathology 1998;78(12):1483-92.
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: J Frank; Angela M Christiano
Variegate porphyria: past, present and future.
Skin pharmacology and applied skin physiology 1998;11(6):310-20.
1998: J Frank; Angela M Christiano
The genetic bases of the porphyrias.
Skin pharmacology and applied skin physiology 1998;11(6):297-309.
1998: Wasim Ahmad; Andrey Panteleyev; John P Sundberg; Angela M Christiano
Molecular basis for the rhino (hrrh-8J) phenotype: a nonsense mutation in the mouse hairless gene.
Genomics 1998;53(3):383-6.
1998: Abraham Zlotogorski; W Ahmad; Angela M Christiano
Congenital atrichia in five Arab Palestinian families resulting from a deletion mutation in the human hairless gene.
Human genetics 1998;103(4):400-4.
1998: Wasim Ahmad; Andrey Panteleyev; V Henson-Apollonio; John P Sundberg; Angela M Christiano
Molecular basis of a novel rhino (hr(rhChr)) phenotype: a nonsense mutation in the mouse hairless gene.
Experimental dermatology 1998;7(5):298-301.
1998: Andrey Panteleyev; Wasim Ahmad; A M Malashenko; E L Ignatieva; Ralf Paus; John P Sundberg; Angela M Christiano
Molecular basis for the rhino Yurlovo (hr(rhY)) phenotype: severe skin abnormalities and female reproductive defects associated with an insertion in the hairless gene.
Experimental dermatology 1998;7(5):281-8.
1998: Andrey Panteleyev; Ralf Paus; Wasim Ahmad; John P Sundberg; Angela M Christiano
Molecular and functional aspects of the hairless (hr) gene in laboratory rodents and humans.
Experimental dermatology 1998;7(5):249-67.
1998: Wasim Ahmad; Alan D Irvine; HaMut Lam; C Buckley; EA Bingham; Andrey Panteleyev; M Ahmad; John A McGrath; Angela M Christiano
A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers.
American journal of human genetics 1998;63(4):984-91.
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: J Frank; Frank K Jugert; C Breitkopf; G Goerz; Hans F Merk; Angela M Christiano
Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria.
American journal of medical genetics 1998;79(1):22-6.
1998: J Frank; Maureen B Poh-Fitzpatrick; L E King; Angela M Christiano
The genetic basis of "Scarsdale Gourmet Diet" variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.
Archives of dermatological research 1998;290(8):441-5.
1998: J Frank; Xiao-Jing Wang; H M Lam; Vincent M Aita; Frank K Jugert; G Goerz; Hans F Merk; Maureen B Poh-Fitzpatrick; Angela M Christiano
C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.
Annals of human genetics 1998;62(Pt 3):225-30.
1998: Peter B Cserhalmi-Friedman; Howard P Baden; Robert E Burgeson; Angela M Christiano
Molecular basis of non-lethal junctional epidermolysis bullosa: identification of a 38 basepair insertion and a splice site mutation in exon 14 of the LAMB3 gene.
Experimental dermatology 1998;7(2-3):105-11.
1998: J Frank; J McGrath; HaMut Lam; R M Graham; J L Hawk; Angela M Christiano
Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband.
The Journal of investigative dermatology 1998;110(4):452-5.
1998: J Frank; Frank K Jugert; K Kalka; G Goerz; Hans F Merk; Angela M Christiano
Variegate porphyria: identification of a nonsense mutation in the protoporphyrinogen oxidase gene.
The Journal of investigative dermatology 1998;110(4):449-51.
1998: Wasim Ahmad; V Brancolini; M F ul Faiyaz; HaMut Lam; S ul Haque; M Haider; A Maimon; Vincent M Aita; J Owen; D Brown; D J Zegarelli; M Ahmad; Jurg Ott; Angela M Christiano
A locus for autosomal recessive hypodontia with associated dental anomalies maps to chromosome 16q12.1.
American journal of human genetics 1998;62(4):987-91.
1998: J Frank; HaMut Lam; E Zaider; Maureen B Poh-Fitzpatrick; Angela M Christiano
Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.
Journal of medical genetics 1998;35(3):244-7.
1998: Wasim Ahmad; Muhammad Faiyaz-Ul-Haque; V Brancolini; HC Tsou; S ul Haque; HaMut Lam; Vincent M Aita; J Owen; M deBlaquiere; J Frank; Peter B Cserhalmi-Friedman; A Leask; John A McGrath; M Peacocke; M Ahmad; Jurg Ott; Angela M Christiano
Alopecia universalis associated with a mutation in the human hairless gene.
Science (New York, N.Y.) 1998;279(5351):720-4.
1997: Peter B Cserhalmi-Friedman; Sarolta Kárpáti; A Horvath; Angela M Christiano
Identification of the glycine-to-arginine substitution G2043R in type VII collagen in a family with dominant dystrophic epidermolysis bullosa from Hungary.
Experimental dermatology 1997;6(6):303-7.
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: Xiuhua Wang; Sergio Piomelli; M Peacocke; Angela M Christiano; Maureen B Poh-Fitzpatrick
Erythropoietic protoporphyria: four novel frameshift mutations in the ferrochelatase gene.
The Journal of investigative dermatology 1997;109(5):688-91.
1997: HC Tsou; David Teng; XL Ping; V Brancolini; T Davis; R Hu; XX Xie; AC Gruener; CA Schrager; Angela M Christiano; Charis Eng; PA Steck; Jurg Ott; Sean V Tavtigian; M Peacocke
The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases.
American journal of human genetics 1997;61(5):1036-43.
1997: Peter B Cserhalmi-Friedman; Sarolta Kárpáti; A Horvath; Angela M Christiano
Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa.
Archives of dermatological research 1997;289(11):640-5.
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: 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: Angela M Christiano
Frontiers in keratodermas: pushing the envelope.
Trends in genetics : TIG 1997;13(6):227-33.
1997: P B Cserhalmi; A Horvath; V Boros; Z Sapi; M Kormendi; Angela M Christiano; Sarolta Kárpáti
Identification of the LAMB3 hotspot mutation R635X in a Hungarian case of Herlitz junctional epidermolysis bullosa.
Experimental dermatology 1997;6(2):70-4.
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: 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: 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: HaMut Lam; L Dragan; HC Tsou; H Merk; M Peacocke; G Goerz; S Sassa; Maureen B Poh-Fitzpatrick; David R Bickers; Angela M Christiano
Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene.
Human genetics 1997;99(1):126-9.
1996: Gerard Tromp; Helena Kuivaniemi; S Raphael; Leena Ala-Kokko; Angela M Christiano; EL Considine; R Dhulipala; J Hyland; A Jokinen; Sirpa Kivirikko; R Korn; S Madhatheri; S McCarron; L Pulkkinen; H Punnett; K Shimoya; Loretta D Spotila; A Tate; Charlene J Williams
Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16.
American journal of human genetics 1996;59(5):1097-107.
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: 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: 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: 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.
1996: Angela M Christiano; J Uitto
Molecular diagnosis of inherited skin diseases: the paradigm of dystrophic epidermolysis bullosa.
Advances in dermatology 1996;11():199-213; discussion 214.
1995: F Vidal; C Baudoin; C Miquel; M F Galliano; Angela M Christiano; J Uitto; Jean-Paul Ortonne; Guerrino Meneguzzi
Cloning of the laminin alpha 3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa.
Genomics 1995;30(2):273-80.
1995: Angela M Christiano; J Y Lee; W J Chen; S LaForgia; J Uitto
Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen.
Human molecular genetics 1995;4(9):1579-83.
1995: J A McGrath; Sirpa Kivirikko; S Ciatti; C Moss; G S Dunnill; Robin A J Eady; C H Rodeck; Angela M Christiano; J Uitto
A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk.
Genomics 1995;29(1):282-4.
1995: J A McGrath; B Gatalica; Angela M Christiano; K Li; Katsushi Owaribe; James R McMillan; Robin A J Eady; J Uitto
Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa.
Nature genetics 1995;11(1):83-6.
1995: J Uitto; A Hovnanian; Angela M Christiano
Premature termination codon mutations in the type VII collagen gene (COL7A1) underlie severe recessive dystrophic epidermolysis bullosa.
Proceedings of the Association of American Physicians 1995;107(2):245-52.
1995: J A McGrath; James R McMillan; M G Dunnill; L Pulkkinen; Angela M Christiano; C H Rodeck; Robin A J Eady; J Uitto
Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: implications for prenatal diagnosis in one family.
Prenatal diagnosis 1995;15(7):647-54.
1995: F Vidal; Daniel Aberdam; C Miquel; Angela M Christiano; L Pulkkinen; J Uitto; Jean-Paul Ortonne; Guerrino Meneguzzi
Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia.
Nature genetics 1995;10(2):229-34.
1995: J A McGrath; L Pulkkinen; Angela M Christiano; I M Leigh; Robin A J Eady; J Uitto
Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa.
The Journal of investigative dermatology 1995;104(4):467-74.
1995: J Vailly; L Pulkkinen; C Miquel; Angela M Christiano; D Gerecke; Robert E Burgeson; J Uitto; Jean-Paul Ortonne; Guerrino Meneguzzi
Identification of a homozygous one-basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence.
The Journal of investigative dermatology 1995;104(4):462-6.
1995: Angela M Christiano; Y Suga; Daniel S Greenspan; H Ogawa; J Uitto
Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa.
The Journal of clinical investigation 1995;95(3):1328-34.
1995: Angela M Christiano; A Morricone; Mauro Paradisi; Corrado Angelo; Cinzia Mazzanti; R Cavalieri; J Uitto
A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa.
The Journal of investigative dermatology 1995;104(3):438-40.
1995: J Vailly; L Pulkkinen; Angela M Christiano; K Tryggvason; J Uitto; Jean-Paul Ortonne; Guerrino Meneguzzi
Identification of a homozygous exon-skipping mutation in the LAMC2 gene in a patient with Herlitz's junctional epidermolysis bullosa.
The Journal of investigative dermatology 1995;104(3):434-7.
1995: L Pulkkinen; D R Gerecke; Angela M Christiano; D W Wagman; Robert E Burgeson; J Uitto
Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa.
Genomics 1995;25(1):192-8.
1995: L Pulkkinen; J A McGrath; Angela M Christiano; J Uitto
Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3).
Human mutation 1995;6(1):77-84.
1994: L Pulkkinen; Angela M Christiano; D Gerecke; D W Wagman; Robert E Burgeson; Mark Pittelkow; J Uitto
A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa.
Genomics 1994;24(2):357-60.
1994: Angela M Christiano; J Uitto
Molecular pathology of the elastic fibers.
The Journal of investigative dermatology 1994;103(5 Suppl):53S-57S.
1994: J Uitto; L Pulkkinen; Angela M Christiano
Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes.
The Journal of investigative dermatology 1994;103(5 Suppl):39S-46S.
1994: C Baudoin; C Miquel; Laurent Gagnoux-Palacios; L Pulkkinen; Angela M Christiano; J Uitto; G Tadini; Jean-Paul Ortonne; Guerrino Meneguzzi
A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa.
Human molecular genetics 1994;3(10):1909-10.
1994: Angela M Christiano; Daniel S Greenspan; S Lee; J Uitto
Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms.
The Journal of biological chemistry 1994;269(32):20256-62.
1994: Angela M Christiano; Guy G Hoffman; L C Chung-Honet; S Lee; W Cheng; J Uitto; Daniel S Greenspan
Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene.
Genomics 1994;21(1):169-79.
1994: Angela M Christiano; Grant J Anhalt; S Gibbons; E A Bauer; J Uitto
Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa.
Genomics 1994;21(1):160-8.
1994: Angela M Christiano; M Ryynänen; J Uitto
Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen.
Proceedings of the National Academy of Sciences of the United States of America 1994;91(9):3549-53.
1994: L Rudnicka; J Varga; Angela M Christiano; Renato V Iozzo; Sergio A Jimenez; J Uitto
Elevated expression of type VII collagen in the skin of patients with systemic sclerosis. Regulation by transforming growth factor-beta.
The Journal of clinical investigation 1994;93(4):1709-15.
1994: Daniel Aberdam; M F Galliano; J Vailly; L Pulkkinen; Jeannette Bonifas; Angela M Christiano; K Tryggvason; J Uitto; E H Epstein; Jean-Paul Ortonne
Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5).
Nature genetics 1994;6(3):299-304.
1994: L Pulkkinen; Angela M Christiano; T Airenne; H Haakana; Karl Tryggvason; J Uitto
Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa.
Nature genetics 1994;6(3):293-7.
1994: J Uitto; Angela M Christiano
Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene.
Archives of dermatological research 1994;287(1):16-22.
1993: Angela M Christiano; J Uitto
DNA-based prenatal diagnosis of heritable skin diseases.
Archives of dermatology 1993;129(11):1455-9.
1993: Guy G Hoffman; S Lee; Angela M Christiano; L C Chung-Honet; W Cheng; S Katchman; J Uitto; Daniel S Greenspan
Complete coding sequence, intron/exon organization, and chromosomal location of the gene for the core I protein of human ubiquinol-cytochrome c reductase.
The Journal of biological chemistry 1993;268(28):21113-9.
1993: J C Lapiere; David T Woodley; M G Parente; T Iwasaki; K C Wynn; Angela M Christiano; J Uitto
Epitope mapping of type VII collagen. Identification of discrete peptide sequences recognized by sera from patients with acquired epidermolysis bullosa.
The Journal of clinical investigation 1993;92(4):1831-9.
1993: J Uitto; Angela M Christiano
Dystrophic forms of epidermolysis bullosa.
Seminars in dermatology 1993;12(3):191-201.
1993: J Uitto; Angela M Christiano
Inherited epidermolysis bullosa. Clinical features, molecular genetics, and pathoetiologic mechanisms.
Dermatologic clinics 1993;11(3):549-63.
1993: K Li; Angela M Christiano; N G Copeland; D J Gilbert; Mon-Li Chu; N A Jenkins; J Uitto
cDNA cloning and chromosomal mapping of the mouse type VII collagen gene (Col7a1): evidence for rapid evolutionary divergence of the gene.
Genomics 1993;16(3):733-9.
1993: Angela M Christiano; Daniel S Greenspan; Guy G Hoffman; X Zhang; Y Tamai; A N Lin; Harry C Dietz; A Hovnanian; J Uitto
A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa.
Nature genetics 1993;4(1):62-6.
1993: L Pulkkinen; Angela M Christiano; R G Knowlton; J Uitto
Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). Genetic linkage to chromosome 12q in the region of the type II keratin gene cluster.
The Journal of clinical investigation 1993;91(1):357-61.
1992: Angela M Christiano; M G Lebwohl; Charles D Boyd; J Uitto
Workshop on pseudoxanthoma elasticum: molecular biology and pathology of the elastic fibers. Jefferson Medical College, Philadelphia, Pennsylvania, June 10, 1992.
The Journal of investigative dermatology 1992;99(5):660-3.
1992: Angela M Christiano; L C Chung-Honet; A Hovnanian; J Uitto
PCR-based detection of two exonic polymorphisms in the human type VII collagen gene (COL7A1) at 3p21.1.
Genomics 1992;14(3):827-8.
1992: Angela M Christiano; L M Rosenbaum; L C Chung-Honet; M G Parente; David T Woodley; Te-Cheng Pan; Rui-Zhu Zhang; Mon-Li Chu; R E Burgeson; J Uitto
The large non-collagenous domain (NC-1) of type VII collagen is amino-terminal and chimeric. Homology to cartilage matrix protein, the type III domains of fibronectin and the A domains of von Willebrand factor.
Human molecular genetics 1992;1(7):475-81.
1992: J Uitto; Angela M Christiano
Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases.
The Journal of clinical investigation 1992;90(3):687-92.
1992: J Uitto; L C Chung-Honet; Angela M Christiano
Molecular biology and pathology of type VII collagen.
Experimental dermatology 1992;1(1):2-11.
1992: J Ryynänen; S Sollberg; M G Parente; L C Chung; Angela M Christiano; J Uitto
Type VII collagen gene expression by cultured human cells and in fetal skin. Abundant mRNA and protein levels in epidermal keratinocytes.
The Journal of clinical investigation 1992;89(1):163-8.
1991: J Uitto; Angela M Christiano; Veli-Matti Kähäri; MM Bashir; Joel Rosenbloom
Molecular biology and pathology of human elastin.
Biochemical Society transactions 1991;19(4):824-9.
1991: D Sawamura; K H Li; K Nomura; Y Sugita; Angela M Christiano; J Uitto
Bullous pemphigoid antigen: cDNA cloning, cellular expression, and evidence for polymorphism of the human gene.
The Journal of investigative dermatology 1991;96(6):908-15.