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Angela Christiano

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
Wajid Muhammad; Kurban Mazen; Shimomura Yutaka; Christiano Angela M
Mutations in the SLURP-1 gene underlie Mal de Meleda in three Pakistani families.
Shimomura Yutaka; Wajid Muhammad; Zlotogorski Abraham; Lee Young-Jin; Rice Robert H; Christiano Angela M
Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis.
Richardson Gavin D; Bazzi Hisham; Fantauzzo Katherine A; Waters James M; Crawford Heather; Hynd Phil; Christiano Angela M; Jahoda Colin A B
KGF and EGF signalling block hair follicle induction and promote interfollicular epidermal fate in developing mouse skin.

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All Publications

2009: Wajid Muhammad; Kurban Mazen; Shimomura Yutaka; Christiano Angela M
Mutations in the SLURP-1 gene underlie Mal de Meleda in three Pakistani families.
Journal of dermatological science 2009;56(1):27-32.
2009: Shimomura Yutaka; Wajid Muhammad; Zlotogorski Abraham; Lee Young-Jin; Rice Robert H; Christiano Angela M
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: Richardson Gavin D; Bazzi Hisham; Fantauzzo Katherine A; Waters James M; Crawford Heather; Hynd Phil; Christiano Angela M; Jahoda Colin A B
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: Dua-Awereh Martha B; Shimomura Yutaka; Kraemer Liv; Wajid Muhammad; Christiano Angela M
Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma.
Journal of dermatological science 2009;53(3):192-7.
2009: Shimomura Yutaka; Wajid Muhammad; Petukhova Lynn; Shapiro Lawrence; Christiano Angela M
Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis.
The Journal of investigative dermatology 2009;129(3):622-8.
2009: Shimomura Yutaka; Garzon Maria C; Kristal Leonard; Shapiro Lawrence; Christiano Angela M
Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene.
Experimental dermatology 2009;18(3):218-21.
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: Petukhova Lynn; Shimomura Yutaka; Wajid Muhammad; Gorroochurn Prakash; Hodge Susan E; Christiano Angela M
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: Fantauzzo Katherine A; Tadin-Strapps Marija; You Yun; Mentzer Sarah E; Baumeister Friedrich A M; Cianfarani Stefano; Van Maldergem Lionel; Warburton Dorothy; Sundberg John P; Christiano Angela M
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: Petukhova Lynn; Sousa Edilson C; Martinez-Mir Amalia; Vitebsky Anna; Dos Santos Lina G; Shapiro Lawrence; Haynes Chad; Gordon Derek; Shimomura Yutaka; Christiano Angela M
Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.
Genomics 2008;92(5):273-8.
2008: Owens Philip; Bazzi Hisham; Engelking Erin; Han Gangwen; Christiano Angela M; Wang Xiao-Jing
Smad4-dependent desmoglein-4 expression contributes to hair follicle integrity.
Developmental biology 2008;322(1):156-66.
2008: Akman A; Masse M; Mihci E; Richard G; Christiano A M; Balle B J; Ciftcioglu M A; Alpsoy E
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: Christiano Angela M
Hair follicle epithelial stem cells get their sox on.
Cell stem cell 2008;3(1):3-4.
2008: Amorosi S; D'Armiento M; Calcagno G; Russo I; Adriani M; Christiano A M; Weiner L; Brissette J L; Pignata C
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: Kraemer Liv; Wajid Muhammad; Shimomura Yutaka; Christiano Angela M
Mutations in the hairless gene underlie APL in three families of Pakistani origin.
Journal of dermatological science 2008;50(1):25-30.
2008: Ishii Yoshiyuki; Wajid Muhammad; Bazzi Hisham; Fantauzzo Katherine A; Barber Alison G; Blaydon Diana C; Nam Ju-Suk; Yoon Jeong K; Kelsell David Peter; Christiano Angela M
Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia.
The Journal of investigative dermatology 2008;128(4):867-70.
2008: Shimomura Yutaka; Wajid Muhammad; Ishii Yoshiyuki; Shapiro Lawrence; Petukhova Lynn; Gordon Derek; Christiano Angela M
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair.
Nature genetics 2008;40(3):335-9.
2008: Engelhard Andrew; Bauer Robert C; Casta Alexandre; Djabali Karima; Christiano Angela M
Ligand-independent regulation of the hairless promoter by vitamin D receptor.
Photochemistry and photobiology 2008;84(2):515-21.
2008: Shimomura Yutaka; Wajid Muhammad; Shapiro Lawrence; Christiano Angela M
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: Fantauzzo Katherine A; Bazzi Hisham; Jahoda Colin A B; Christiano Angela M
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: Barahmani Nazila; de Andrade Mariza; Slusser Joshua P; Wei Qingyi; Hordinsky Maria; Price Vera H; Christiano Angela; Norris David; Reveille John; Duvic Madeleine
Human leukocyte antigen class II alleles are associated with risk of alopecia areata.
The Journal of investigative dermatology 2008;128(1):240-3.
2007: Kim Hyunmi; Wajid Muhammad; Kraemer Liv; Shimomura Yutaka; Christiano Angela M
Nonsense mutations in the hairless gene underlie APL in five families of Pakistani origin.
Journal of dermatological science 2007;48(3):207-11.
2007: Bazzi Hisham; Christiano Angela M
Broken hearts, woolly hair, and tattered skin: when desmosomal adhesion goes awry.
Current opinion in cell biology 2007;19(5):515-20.
2007: Michailidis Eleni; Theos Amy; Zlotogorski Abraham; Martinez-Mir Amalia; Christiano Angela M
Atrichia with papular lesions resulting from novel compound heterozygous mutations in the human hairless gene.
Pediatric dermatology 2007;24(5):E79-82.
2007: Wajid Muhammad; Bazzi Hisham; Rockey Jonathan; Lubetkin Jillian; Zlotogorski Abraham; Christiano Angela M
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: Bazzi Hisham; Fantauzzo Katherine A; Richardson Gavin D; Jahoda Colin A B; Christiano Angela M
The Wnt inhibitor, Dickkopf 4, is induced by canonical Wnt signaling during ectodermal appendage morphogenesis.
Developmental biology 2007;305(2):498-507.
2007: Bazzi Hisham; Fantauzzo Katherine A; Richardson Gavin D; Jahoda Colin A B; Christiano Angela M
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: Barber Alison G; Wajid Muhammad; Columbo Morgana; Lubetkin Jillian; Christiano Angela M
Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene.
Journal of dermatological science 2007;45(3):161-6.
2007: Martinez-Mir Amalia; Zlotogorski Abraham; Gordon Derek; Petukhova Lynn; Mo Jianhong; Gilliam T Conrad; Londono Douglas; Haynes Chad; Ott Jurg; Hordinsky Maria; Nanova Krassimira; Norris David; Price Vera; Duvic Madeleine; Christiano Angela M
Genomewide scan for linkage reveals evidence of several susceptibility loci for alopecia areata.
American journal of human genetics 2007;80(2):316-28.
2006: Kraemer Liv; Wajid Muhammad; Christiano Angela M
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: Blaydon Diana C; Ishii Yoshiyuki; O'Toole Edel A; Unsworth Harriet C; Teh Muy-Teck; Rüschendorf Franz; Sinclair Claire; Hopsu-Havu Väinö K; Tidman Nicholas; Moss Celia; Watson Rosemarie; de Berker David; Wajid Muhammad; Christiano Angela M; Kelsell David P
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: Ashoor G; Massé M; García Luciano L M; Sheffer R; Martinez-Mir A; Christiano A M; Zlotogorski A
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: Schaffer Julie V; Bazzi Hisham; Vitebsky Anna; Witkiewicz Agnieszka; Kovich Olympia I; Kamino Hideko; Shapiro Lawrence S; Amin Snehal P; Orlow Seth J; Christiano Angela M
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: Ross F Patrick; Christiano Angela M
Nothing but skin and bone.
The Journal of clinical investigation 2006;116(5):1140-9.
2006: Bazzi Hisham; Getz Alison; Mahoney My G; Ishida-Yamamoto Akemi; Langbein Lutz; Wahl James K; Christiano Angela M
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: Mahoney My G; Hu Ying; Brennan Donna; Bazzi Hisham; Christiano Angela M; Wahl James K
Delineation of diversified desmoglein distribution in stratified squamous epithelia: implications in diseases.
Experimental dermatology 2006;15(2):101-9.
2006: Chuang G S; Martinez-Mir A; Engler D E; Gmyrek R F; Zlotogorski A; Christiano A M
Multiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase gene.
Clinical and experimental dermatology 2006;31(1):118-21.
2005: Martinez-Mir Amalia; Zlotogorski Abraham; Christiano Angela M
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: Bazzi Hisham; Martinez-Mir Amalia; Kljuic Ana; Christiano Angela M
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: Messenger Andrew G; Bazzi Hisham; Parslew Richard; Shapiro Lawrence; Christiano Angela M
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: Ashoor Ghalia G; Greenstein Robert M; Lam Hamut; Martinez-Mir Amalia; Zlotogorski Abraham; Christiano Angela M
Novel compound heterozygous nonsense mutations in the hairless gene causing atrichia with papular lesions.
Journal of dermatological science 2005;40(1):29-33.
2005: Paradisi Mauro; Massé Maureen; Martinez-Mir Amalia; Lam HaMut; Pedicelli Cristina; Christiano Angela M
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: Massé M; Martinez-Mir A; Lam H; Geraghty M T; Christiano A M
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: Auricchio Luigi; Adriani Marsilio; Frank Jorge; Busiello Rosanna; Christiano Angela; Pignata Claudio
Nail dystrophy associated with a heterozygous mutation of the nude/SCID human FOXN1 (WHN) gene.
Archives of dermatology 2005;141(5):647-8.
2005: Massé M; Cserhalmi-Friedman P B; Falanga V; Celebi J T; Martinez-Mir A; Christiano A M
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: Turkish Aaron R; Henneberry Annette L; Cromley Debra; Padamsee Mahajabeen; Oelkers Peter; Bazzi Hisham; Christiano Angela M; Billheimer Jeffrey T; Sturley Stephen L
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: Chuang Gary S; Martinez-Mir Amalia; Geyer Adam; Engler Danielle E; Glaser Benjamin; Cserhalmi-Friedman Peter B; Gordon Derek; Horev Liran; Lukash Barbara; Herman Eric; Cid Manuel Prieto; Brenner Sarah; Landau Marina; Sprecher Eli; Garcia Muret Maria Pilar; Christiano Angela M; Zlotogorski Abraham
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: Nakabayashi Kazuhiko; Amann Daniela; Ren Yan; Saarialho-Kere Ulpu; Avidan Nili; Gentles Simone; MacDonald Jeffrey R; Puffenberger Erik G; Christiano Angela M; Martinez-Mir Amalia; Salas-Alanis Julio C; Rizzo Renata; Vamos Esther; Raams Anja; Les Clifford; Seboun Eric; Jaspers Nicolaas G J; Beckmann Jacques S; Jackson Charles E; Scherer Stephen W
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.
American journal of human genetics 2005;76(3):510-6.
2005: Chan I; Wong T; Martinez-Mir A; Christiano A M; McGrath J A
Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer.
Clinical and experimental dermatology 2005;30(1):75-8.
2004: Meyer Birgit; Bazzi Hisham; Zidek Vaclav; Musilova Alena; Pravenec Michal; Kurtz Theodore W; Nurnberg Peter; Christiano Angela M
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: Kim Hyunmi; Panteleyev Andrey A; Jahoda Colin A B; Ishii Yoshiyaki; Christiano Angela M
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: Bazzi Hisham; Kljuic Ana; Christiano Angela M; Christiano Angela M; Panteleyev Andrey A
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: Bazzi Hisham; Kljuic Ana; Christiano Angela M; Christiano Angela M; Panteleyev Andrey A
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: 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: Djabali Karima; Christiano Angela M
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: Uyttendaele Hendrik; Panteleyev Andrey A; de Berker David; Tobin Desmond T; Christiano Angela M
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: O'Shaughnessy Ryan F L; Christiano Angela M; Jahoda Colin A B
The role of BMP signalling in the control of ID3 expression in the hair follicle.
Experimental dermatology 2004;13(10):621-9.
2004: O'Shaughnessy Ryan F L; Yeo Weeteck; Gautier Jean; Jahoda Colin A B; Christiano Angela M
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: Christiano Angela M
Epithelial stem cells: stepping out of their niche.
Cell 2004;118(5):530-2.
2004: Moss Celia; Martinez-Mir Amalia; Lam HaMut; Tadin-Strapps Marija; Kljuic Ana; Christiano Angela M
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: Tadin-Strapps M; Warburton D; Salas-Alanis J C; Lopez-Cepeda L D; Christiano A M
Fishing for new genes in skin biology: impact of cytogenetics on gene discovery.
Clinical genetics 2004;66(2):94-106.
2004: Adriani M; Martinez-Mir A; Fusco F; Busiello R; Frank J; Telese S; Matrecano E; Ursini M V; Christiano A M; Pignata C
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: Chuang G S; Martinez-Mir A; Yu H-S; Sung F-Y; Chuang R Y; Cserhalmi-Friedman P B; Christiano A M
A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa.
Clinical and experimental dermatology 2004;29(3):304-7.
2004: Jahoda Colin A B; Kljuic Ana; O'Shaughnessy Ryan; Crossley Neil; Whitehouse C Jenna; Robinson Mark; Reynolds Amanda J; Demarchez Michel; Porter Rebecca M; Shapiro Lawrence; Christiano Angela M
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: Kljuic Ana; Bauer Robert C; Christiano Angela M
Genomic organization of mouse desmocollin genes reveals evolutionary conservation.
DNA sequence : the journal of DNA sequencing and mapping 2004;15(2):148-52.
2004: Schmuth Matthias; Fluhr Joachim W; Crumrine Debra C; Uchida Yoshikazu; Hachem Jean-Pierre; Behne Martin; Moskowitz David G; Christiano Angela M; Feingold Kenneth R; Elias Peter M
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: Engelhard Andrew; Christiano Angela M
The hairless promoter is differentially regulated by thyroid hormone in keratinocytes and neuroblastoma cells.
Experimental dermatology 2004;13(4):257-64.
2004: Djabali Karima; Zlotogorski Abraham; Metzker Arye; Ben-Amitai Dani; Christiano Angela M
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: Cserhalmi-Friedman Peter B; Panteleyev Andrey A; Christiano Angela M
Recapitulation of the hairless mouse phenotype using catalytic oligonucleotides: implications for permanent hair removal.
Experimental dermatology 2004;13(3):155-62.
2004: Tadin-Strapps M; Warburton D; Baumeister F A M; Fischer S G; Yonan J; Gilliam T C; Christiano A M
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: O'Shaughnessy Ryan F L; Christiano Angela M
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: Horev Liran; Djabali Karima; Green Jack; Sinclair Rodney; Martinez-Mir Amalia; Ingber Arieh; Christiano Angela M; Zlotogorski Abraham
De novo mutations in monilethrix.
Experimental dermatology 2003;12(6):882-5.
2003: Martinez-Mir A; Zlotogorski A; Londono D; Gordon D; Grunn A; Uribe E; Horev L; Ruiz I M; Davalos N O; Alayan O; Liu J; Gilliam T C; Salas-Alanis J C; Christiano A M
Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24.
Journal of medical genetics 2003;40(12):872-8.
2003: Zlotogorski Abraham; Hochberg Ze'ev; Mirmirani Paradi; Metzker Arye; Ben-Amitai Dan; Martinez-Mir Amalia; Panteleyev Andrey A; Christiano Angela M
Clinical and pathologic correlations in genetically distinct forms of atrichia.
Archives of dermatology 2003;139(12):1591-6.
2003: Cserhalmi-Friedman Peter B; Djabali Karima; Dietz Harry C; Christiano Angela M
Strategy to assess the efficiency of U1 RNA-hammerhead ribozyme constructs using GFP-tagged targets.
Experimental dermatology 2003;12(5):712-5.
2003: Martinez-Mir Amalia; Glaser Benjamin; Chuang Gary S; Horev Liran; Waldman Arie; Engler Danielle E; Gordon Derek; Spelman Lynda J; Hatzibougias Ioannis; Green Jack; Christiano Angela M; Zlotogorski Abraham
Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata.
The Journal of investigative dermatology 2003;121(4):741-4.
2003: Duvic Madeleine; Norris David; Christiano Angela; Hordinsky Maria; Price Vera
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: Martinez-Mir Amalia; Zlotogorski Abraham; Ott Jurg; Gordon Derek; Christiano Angela M
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: Paradisi M; Chuang G S; Angelo C; Pedicelli C; Martinez-Mir A; Christiano A M
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: Kljuic Ana; Gilead Leon; Martinez-Mir Amalia; Frank Jorge; Christiano Angela M; Zlotogorski Abraham
A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma.
Experimental dermatology 2003;12(4):523-7.
2003: Paller Amy S; Varigos George; Metzker Arye; Bauer Robert C; Opie Jacinta; Martinez-Mir Amalia; Christiano Angela M; Zlotogorski Abraham
Compound heterozygous mutations in the hairless gene in atrichia with papular lesions.
The Journal of investigative dermatology 2003;121(2):430-2.
2003: Panteleyev Andrey A; Mitchell Pamela J; Paus Ralf; Christiano Angela M
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: Ward K M; Cook-Bolden F E; Christiano A M; Celebi J T
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: Sinclair Rodney; Jolley Damian; Mallari Rica; Magee Jill; Tosti Antonella; Piracinni Bianca Maria; Vincenzi C; Happle Rudolf; Ferrando Juan; Grimalt Ramon; Thérèse Leroy; Van Neste Dominique; Zlotogorski Abraham; Christiano Angela M; Whiting David
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: Lavker Robert M; Sun Tung-Tien; Oshima Hideo; Barrandon Yann; Akiyama Masashi; Ferraris Corinne; Chevalier Genevieve; Favier Bertrand; Jahoda Colin A B; Dhouailly Danielle; Panteleyev Andrei A; Christiano Angela M
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: 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: Hu Guofang; Yildirim Mehmet; Baysal Vahide; Yerebakan Ozlem; Yilmaz Ertan; Inaloz H Serhat; Martinez-Mir Amalia; Christiano Angela M; Celebi Julide Tok
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: Tadin-Strapps M; Salas-Alanis J C; Moreno L; Warburton D; Martinez-Mir A; Christiano A M
Congenital universal hypertrichosis with deafness and dental anomalies inherited as an X-linked trait.
Clinical genetics 2003;63(5):418-22.
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: Djabali K; Panteleyev A A; Lalin T; Garzon M C; Longley B J; Bickers D R; Zlotogorski A; Christiano A M
Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix.
Clinical and experimental dermatology 2003;28(2):206-10.
2003: Kljuic A; Christiano A M
A novel mouse desmosomal cadherin family member, desmoglein 1 gamma.
Experimental dermatology 2003;12(1):20-9.
2003: Horev L; Waran Lalin T; Martinez-Mir A; Bagheri B A; Tadin-Strapps M; Schneiderman P I; Grossman M E; Bickers D R; Christiano A M
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: Cserhalmi-Friedman Peter B; Anyane-Yeboa Kwame; Christiano Angela M
Paternal germline mosaicism in Herlitz junctional epidermolysis bullosa.
Experimental dermatology 2002;11(5):468-70.
2002: Henn Wolfram; Zlotogorski Abraham; Lam HaMut; Martinez-Mir Amalia; Zaun Hansotto; Christiano Angela M
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: Day Nancy S; Tadin Marija; Christiano Angela M; Lanzano Patricia; Piomelli Sergio; Brown Stephen
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: Bergstein Ivan; Leopold Philip L; Sato Noboru; Panteleyev Andrei; Christiano Angela; Crystal Ronald
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: Zlotogorski Abraham; Panteleyev Andrei A; Aita Vincent M; Christiano Angela M
Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions.
The Journal of investigative dermatology 2002;118(5):887-90.
2002: Zlotogorski Abraham; Martinez-Mir Amalia; Green Jack; Lamdagger HaMut; Panteleyevdagger Andrei A; Sinclair Rodney; Christiano Angela M
Evidence for pseudodominant inheritance of atrichia with papular lesions.
The Journal of investigative dermatology 2002;118(5):881-6.
2002: Martinez-Mir Amalia; Gordon Derek; Horev Liran; Klapholz Laurent; Ott Jurg; Christiano Angela M; Zlotogorski Abraham
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: Djabali Karima; Martinez-Mir Amalia; Horev Liran; Christiano Angela M; Zlotogorski Abraham
Evidence for extensive locus heterogeneity in Naxos disease.
The Journal of investigative dermatology 2002;118(3):557-60.
2002: Martinez-Mir Amalia; Liu Jianjun; Gordon Derek; Weiner Madeline S; Ahmad Wasim; Fine Jo-David; Ott Jurg; Gilliam T Conrad; Christiano Angela M
EB simplex superficialis resulting from a mutation in the type VII collagen gene.
The Journal of investigative dermatology 2002;118(3):547-9.
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: Ahmad Wasim; Ratterree Marion S; Panteleyev Andrei A; Aita Vincent M; Sundberg John P; Christiano Angela M
Atrichia with papular lesions resulting from mutations in the rhesus macaque (Macaca mulatta) hairless gene.
Laboratory animals 2002;36(1):61-7.
2001: Zlotogorski A; Panteleyev A A; Aita V M; Christiano A M
Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions.
The Journal of investigative dermatology 2001;117(6):1662-5.
2001: Cserhalmi-Friedman P B; Garzon M C; Guzman E; Martinez-Mir A; Chung W K; Anyane-Yeboa K; Christiano A M
Maternal germline mosaicism in dominant dystrophic epidermolysis bullosa.
The Journal of investigative dermatology 2001;117(5):1327-8.
2001: O'Shaughnessy R F; Christiano A M
Stem cells in the epidermis.
Skin pharmacology and applied skin physiology 2001;14(6):350-7.
2001: Panteleyev A A; Jahoda C A; Christiano A M
Hair follicle predetermination.
Journal of cell science 2001;114(Pt 19):3419-31.
2001: Jahoda C A; Oliver R F; Reynolds A J; Forrester J C; Gillespie J W; Cserhalmi-Friedman P B; Christiano A M; Horne K A
Trans-species hair growth induction by human hair follicle dermal papillae.
Experimental dermatology 2001;10(4):229-37.
2001: Tadin M; Braverman E; Cianfarani S; Sobrino A J; Levy B; Christiano A M; Warburton D
Complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome.
American journal of medical genetics 2001;102(1):100-4.
2001: Frank J; Jugert F K; Merk H F; Kalka K; Goerz G; Anderson K; Bickers D R; Poh-Fitzpatrick M B; Christiano A M
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: Cserhalmi-Friedman P B; Milstone L M; Christiano A M
Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene.
The British journal of dermatology 2001;144(4):726-30.
2001: Cserhalmi-Friedman P B; Frank J A; Ahmad W; Panteleyev A A; Aita V M; Christiano A M
Structural analysis reflects the evolutionary relationship between the human desmocollin gene family members.
Experimental dermatology 2001;10(2):95-9.
2001: Frank J; Cserhalmi-Friedman P B; Ahmad W; Panteleyev A A; Aita V M; Christiano A M
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: Cserhalmi-Friedman P B; Yeboa K A; Christiano A M
DNA based molecular analysis in the rapid diagnosis of Herlitz junctional epidermolysis bullosa.
Clinical and experimental dermatology 2001;26(2):205-7.
2001: Panteleyev A A; Christiano A M
The Charles River "hairless" rat mutation is distinct from the hairless mouse alleles.
Comparative medicine 2001;51(1):49-55.
2001: Pignata C; Gaetaniello L; Masci A M; Frank J; Christiano A; Matrecano E; Racioppi L
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: Cserhalmi-Friedman P B; Olson P F; Koch M; Champliaud M F; Brunken W J; Burgeson R E; Christiano A M
Structural analysis and mutation detection strategy for the human LAMC3 gene.
Biochemical and biophysical research communications 2001;280(1):39-44.
2001: Djabali K; Aita V M; Christiano A M
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.
2001: Frank J; Aita V M; Ahmad W; Lam H; Wolff C; Christiano A M
Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile.
Human heredity 2001;51(3):160-8.
2000: Panteleyev A A; Thiel R; Rosenbach T; Christiano A M
Acne chlorina and acne vulgaris--casual likeness or casual homology?
Archives of dermatological research 2000;292(11):577-81.
2000: Panteleyev A A; Rosenbach T; Paus R; Christiano A M
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: Panteleyev A A; Paus R; Christiano A M
Patterns of hairless (hr) gene expression in mouse hair follicle morphogenesis and cycling.
The American journal of pathology 2000;157(4):1071-9.
2000: Aita V M; Zlotogorski A; Christiano A M
Settling the score on hairless.
The Journal of investigative dermatology 2000;115(4):761-4.
2000: Cserhalmi-Friedman P B; Tang Y; Adler A; Krey L; Grifo J A; Christiano A M
Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa.
Experimental dermatology 2000;9(4):290-7.
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: Warmuth I; Cserhalmi-Friedman P B; Schneiderman P; Grossman M E; Christiano A M
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: Cserhalmi-Friedman P B; Squeo R; Gordon D; Garzon M; Schneiderman P; Grossman M E; Christiano A M
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: 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: Aita V M; Ahmad W; Panteleyev A A; Kozlowska U; Kozlowska A; Gilliam T C; Jablonska S; Christiano A M
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: Panteleyev A A; Christiano A M; O'Brien T G; Sundberg J P
Ornithine decarboxylase transgenic mice as a model for human atrichia with papular lesions.
Experimental dermatology 2000;9(2):146-51.
1999: Ahmad W; Panteleyev A A; Christiano A M
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: Michael E J; Schneiderman P; Grossman M E; Christiano A M
Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene.
Experimental dermatology 1999;8(6):501-3.
1999: Aita V M; Christiano A M; Gilliam T C
Mapping complex traits in diseases of the hair and skin.
Experimental dermatology 1999;8(6):439-52.
1999: Reynolds A J; Lawrence C; Cserhalmi-Friedman P B; Christiano A M; Jahoda C A
Trans-gender induction of hair follicles.
Nature 1999;402(6757):33-4.
1999: Ahmad W; Panteleyev A; Christiano A M
Molecular basis of congenital atrichia in humans and mice.
Cutis; cutaneous medicine for the practitioner 1999;64(4):269-76.
1999: Moraru R; Cserhalmi-Friedman P B; Grossman M E; Schneiderman P; Christiano A M
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: Frank J; McGrath J A; Poh-Fitzpatrick M B; Hawk J L; Christiano A M
Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria.
Clinical and experimental dermatology 1999;24(4):296-301.
1999: Frank J; Nelson J; Wang X; Yang L; Ahmad W; Lam H; Jugert F K; Kalka K; Poh-Fitzpatrick M B; Goerz G; Merk H F; Christiano A M
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: 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: Cserhalmi-Friedman P B; Grossman J; Karpati S; Ahmad W; Horvath A; Christiano A M
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: Tok J; Garzon M C; Cserhalmi-Friedman P; Lam H M; Spitz J L; Christiano A M
Identification of mutations in the transglutaminase 1 gene in lamellar ichthyosis.
Experimental dermatology 1999;8(2):128-33.
1999: Frank J; Pignata C; Panteleyev A A; Prowse D M; Baden H; Weiner L; Gaetaniello L; Ahmad W; Pozzi N; Cserhalmi-Friedman P B; Aita V M; Uyttendaele H; Gordon D; Ott J; Brissette J L; Christiano A M
Exposing the human nude phenotype.
Nature 1999;398(6727):473-4.
1999: Ahmad W; Zlotogorski A; Panteleyev A A; Lam H; Ahmad M; ul Haque M F; Abdallah H M; Dragan L; Christiano A M
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: Cserhalmi-Friedman P B; McGrath J A; Mellerio J E; Romero R; Salas-Alanis J C; Paller A S; Dietz H C; Christiano A M
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: 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: Frank J; Christiano A M
Variegate porphyria: past, present and future.
Skin pharmacology and applied skin physiology 1998;11(6):310-20.
1998: Frank J; Christiano A M
The genetic bases of the porphyrias.
Skin pharmacology and applied skin physiology 1998;11(6):297-309.
1998: Ahmad W; Panteleyev A A; Sundberg J P; Christiano A M
Molecular basis for the rhino (hrrh-8J) phenotype: a nonsense mutation in the mouse hairless gene.
Genomics 1998;53(3):383-6.
1998: Zlotogorski A; Ahmad W; Christiano A M
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: Ahmad W; Panteleyev A A; Henson-Apollonio V; Sundberg J P; Christiano A M
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: Panteleyev A A; Ahmad W; Malashenko A M; Ignatieva E L; Paus R; Sundberg J P; Christiano A M
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: Panteleyev A A; Paus R; Ahmad W; Sundberg J P; Christiano A M
Molecular and functional aspects of the hairless (hr) gene in laboratory rodents and humans.
Experimental dermatology 1998;7(5):249-67.
1998: Ahmad W; Irvine A D; Lam H; Buckley C; Bingham E A; Panteleyev A A; Ahmad M; McGrath J A; Christiano A M
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: 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: Frank J; Poh-Fitzpatrick M B; King L E; Christiano A M
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: Frank J; Jugert F K; Breitkopf C; Goerz G; Merk H F; Christiano A M
Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria.
American journal of medical genetics 1998;79(1):22-6.
1998: Frank J; Wang X; Lam H M; Aita V M; Jugert F K; Goerz G; Merk H F; Poh-Fitzpatrick M B; Christiano A M
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: Cserhalmi-Friedman P B; Baden H; Burgeson R E; Christiano A M
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: Frank J; McGrath J; Lam H; Graham R M; Hawk J L; Christiano A M
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: Frank J; Jugert F K; Kalka K; Goerz G; Merk H F; Christiano A M
Variegate porphyria: identification of a nonsense mutation in the protoporphyrinogen oxidase gene.
The Journal of investigative dermatology 1998;110(4):449-51.
1998: Ahmad W; Brancolini V; ul Faiyaz M F; Lam H; ul Haque S; Haider M; Maimon A; Aita V M; Owen J; Brown D; Zegarelli D J; Ahmad M; Ott J; Christiano A M
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: Frank J; Lam H; Zaider E; Poh-Fitzpatrick M; Christiano A M
Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.
Journal of medical genetics 1998;35(3):244-7.
1998: Ahmad W; Faiyaz ul Haque M; Brancolini V; Tsou H C; ul Haque S; Lam H; Aita V M; Owen J; deBlaquiere M; Frank J; Cserhalmi-Friedman P B; Leask A; McGrath J A; Peacocke M; Ahmad M; Ott J; Christiano A M
Alopecia universalis associated with a mutation in the human hairless gene.
Science (New York, N.Y.) 1998;279(5351):720-4.
1997: Cserhalmi-Friedman P B; Karpati S; Horvath A; Christiano A M
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: 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: Wang X; Piomelli S; Peacocke M; Christiano A M; Poh-Fitzpatrick M B
Erythropoietic protoporphyria: four novel frameshift mutations in the ferrochelatase gene.
The Journal of investigative dermatology 1997;109(5):688-91.
1997: Tsou H C; Teng D H; Ping X L; Brancolini V; Davis T; Hu R; Xie X X; Gruener A C; Schrager C A; Christiano A M; Eng C; Steck P; Ott J; Tavtigian S V; Peacocke M
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: Cserhalmi-Friedman P B; Karpati S; Horvath A; Christiano A M
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: 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: 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: Christiano A M
Frontiers in keratodermas: pushing the envelope.
Trends in genetics : TIG 1997;13(6):227-33.
1997: Cserhalmi P B; Horvath A; Boros V; Sapi Z; Kormendi M; Christiano A M; Karpati S
Identification of the LAMB3 hotspot mutation R635X in a Hungarian case of Herlitz junctional epidermolysis bullosa.
Experimental dermatology 1997;6(2):70-4.
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: 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: 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: Lam H; Dragan L; Tsou H C; Merk H; Peacocke M; Goerz G; Sassa S; Poh-Fitzpatrick M; Bickers D R; Christiano A M
Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene.
Human genetics 1997;99(1):126-9.
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.
1996: Tromp G; Kuivaniemi H; Raphael S; Ala-Kokko L; Christiano A; Considine E; Dhulipala R; Hyland J; Jokinen A; Kivirikko S; Korn R; Madhatheri S; McCarron S; Pulkkinen L; Punnett H; Shimoya K; Spotila L; Tate A; Williams C J
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: 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: 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: 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: 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: 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.
1996: Christiano A M; Uitto J
Molecular diagnosis of inherited skin diseases: the paradigm of dystrophic epidermolysis bullosa.
Advances in dermatology 1996;11():199-213; discussion 214.
1995: Vidal F; Baudoin C; Miquel C; Galliano M F; Christiano A M; Uitto J; Ortonne J P; Meneguzzi G
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: Christiano A M; Lee J Y; Chen W J; LaForgia S; Uitto J
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: McGrath J A; Kivirikko S; Ciatti S; Moss C; Dunnill G S; Eady R A; Rodeck C H; Christiano A M; Uitto J
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: McGrath J A; Gatalica B; Christiano A M; Li K; Owaribe K; McMillan J R; Eady R A; Uitto J
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: Uitto J; Hovnanian A; Christiano A M
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: McGrath J A; McMillan J R; Dunnill M G; Pulkkinen L; Christiano A M; Rodeck C H; Eady R A; Uitto J
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: Vidal F; Aberdam D; Miquel C; Christiano A M; Pulkkinen L; Uitto J; Ortonne J P; Meneguzzi G
Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia.
Nature genetics 1995;10(2):229-34.
1995: McGrath J A; Pulkkinen L; Christiano A M; Leigh I M; Eady R A; Uitto J
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: Vailly J; Pulkkinen L; Miquel C; Christiano A M; Gerecke D; Burgeson R E; Uitto J; Ortonne J P; Meneguzzi G
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: Christiano A M; Suga Y; Greenspan D S; Ogawa H; Uitto J
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: Christiano A M; Morricone A; Paradisi M; Angelo C; Mazzanti C; Cavalieri R; Uitto J
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: Vailly J; Pulkkinen L; Christiano A M; Tryggvason K; Uitto J; Ortonne J P; Meneguzzi G
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: Pulkkinen L; Gerecke D R; Christiano A M; Wagman D W; Burgeson R E; Uitto J
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: Pulkkinen L; McGrath J A; Christiano A M; Uitto J
Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3).
Human mutation 1995;6(1):77-84.
1994: Christiano A M; Uitto J
Molecular pathology of the elastic fibers.
The Journal of investigative dermatology 1994;103(5 Suppl):53S-57S.
1994: Uitto J; Pulkkinen L; Christiano A M
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: Pulkkinen L; Christiano A M; Gerecke D; Wagman D W; Burgeson R E; Pittelkow M R; Uitto J
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: Baudoin C; Miquel C; Gagnoux-Palacios L; Pulkkinen L; Christiano A M; Uitto J; Tadini G; Ortonne J P; Meneguzzi G
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: Christiano A M; Greenspan D S; Lee S; Uitto J
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: Christiano A M; Hoffman G G; Chung-Honet L C; Lee S; Cheng W; Uitto J; Greenspan D S
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: Christiano A M; Anhalt G; Gibbons S; Bauer E A; Uitto J
Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa.
Genomics 1994;21(1):160-8.
1994: Christiano A M; Ryynänen M; Uitto J
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: Rudnicka L; Varga J; Christiano A M; Iozzo R V; Jimenez S A; Uitto J
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: Aberdam D; Galliano M F; Vailly J; Pulkkinen L; Bonifas J; Christiano A M; Tryggvason K; Uitto J; Epstein E H; Ortonne J P
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: Pulkkinen L; Christiano A M; Airenne T; Haakana H; Tryggvason K; Uitto J
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: Uitto J; Christiano A M
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: Christiano A M; Uitto J
DNA-based prenatal diagnosis of heritable skin diseases.
Archives of dermatology 1993;129(11):1455-9.
1993: Hoffman G G; Lee S; Christiano A M; Chung-Honet L C; Cheng W; Katchman S; Uitto J; Greenspan D S
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: Lapiere J C; Woodley D T; Parente M G; Iwasaki T; Wynn K C; Christiano A M; Uitto J
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: Uitto J; Christiano A M
Dystrophic forms of epidermolysis bullosa.
Seminars in dermatology 1993;12(3):191-201.
1993: Uitto J; Christiano A M
Inherited epidermolysis bullosa. Clinical features, molecular genetics, and pathoetiologic mechanisms.
Dermatologic clinics 1993;11(3):549-63.
1993: Li K; Christiano A M; Copeland N G; Gilbert D J; Chu M L; Jenkins N A; Uitto J
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: Christiano A M; Greenspan D S; Hoffman G G; Zhang X; Tamai Y; Lin A N; Dietz H C; Hovnanian A; Uitto J
A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa.
Nature genetics 1993;4(1):62-6.
1993: Pulkkinen L; Christiano A M; Knowlton R G; Uitto J
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: Christiano A M; Lebwohl M G; Boyd C D; Uitto J
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: Christiano A M; Chung-Honet L C; Hovnanian A; Uitto J
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: Christiano A M; Rosenbaum L M; Chung-Honet L C; Parente M G; Woodley D T; Pan T C; Zhang R Z; Chu M L; Burgeson R E; Uitto J
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: Uitto J; Christiano A M
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: Uitto J; Chung-Honet L C; Christiano A M
Molecular biology and pathology of type VII collagen.
Experimental dermatology 1992;1(1):2-11.
1992: Ryynänen J; Sollberg S; Parente M G; Chung L C; Christiano A M; Uitto J
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: Uitto J; Christiano A M; Kähäri V M; Bashir M M; Rosenbloom J
Molecular biology and pathology of human elastin.
Biochemical Society transactions 1991;19(4):824-9.
1991: Sawamura D; Li K H; Nomura K; Sugita Y; Christiano A M; Uitto J
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.

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