Epidermolysis bullosa (EB) in a group of genodermatoses characterized by the fragility of skin. Previous studies on the dystrophic (scarring) forms of EB have suggested abnormalities in anchoring fibrils, morphologically recognizable attachment structures that provide stability to the association of the cutaneous basement membrane to the underlying dermis. Since type VII collagen is the major component of the anchoring fibrils, we examined the genetic linkage of dominant dystrophic EB (EBDD) and the type VII collagen gene (COL7A1) locus, which we have recently mapped to chromosome 3p, in three large kindreds with abnormal anchoring fibrils. Strong genetic linkage of EBDD and COL7A1 loci was demonstrated with the maximum logarithm of odds (LOD) score of 8.77 at theta = 0. This linkage was further confirmed with two additional markers in this region of the short arm of chromosome 3, and these analyses allowed further refinement of the map locus of COL7A1. Since there were no recombinants between the COL7A1 and EBDD loci, our findings suggest that type VII collagen is the candidate gene that may harbor the mutations responsible for the EB phenotype in these three families.
M Ryynänen, J Ryynänen, S Sollberg, R V Iozzo, R G Knowlton, J Uitto
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Decorin-inducible Peg3 Evokes Beclin 1-mediated Autophagy and Thrombospondin 1-mediated Angiostasis
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2015 | |
Endorepellin Evokes Autophagy in Endothelial Cells
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T Neill, HR Jones, Z Crane-Smith, RT Owens, L Schaefer, RV Iozzo |
The FEBS journal | 2013 |
Decorin Protein Core Affects the Global Gene Expression Profile of the Tumor Microenvironment in a Triple-Negative Orthotopic Breast Carcinoma Xenograft Model
S Buraschi, T Neill, RT Owens, LA Iniguez, G Purkins, R Vadigepalli, B Evans, L Schaefer, SC Peiper, ZX Wang, RV Iozzo |
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A Goyal, C Poluzzi, CD Willis, J Smythies, A Shellard, T Neill, RV Iozzo |
The Journal of biological chemistry | 2012 |
Molecular Heterogeneity of Blistering Disorders: The Paradigm of Epidermolysis Bullosa
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Endorepellin Affects Angiogenesis by Antagonizing Diverse Vascular Endothelial Growth Factor Receptor 2 (VEGFR2)-evoked Signaling Pathways
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American Journal of Medical Genetics | 2004 |
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Matrix Biology | 2004 |
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Journal of Investigative Dermatology | 1999 |
Novel Glycine Substitution Mutations in COL7A1 Reveal that the Pasini and Cockayne-Touraine Variants of Dominant Dystrophic Epidermolysis Bullosa Are Allelic
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Molecular basis of dystrophic epidermolysis bullosa: Mutations in the type VII collagen gene (COL7A1)
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The Journal of Dermatology | 1997 |
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Experimental Dermatology | 1996 |
Molecular Basis of Recessive Dystrophic Epidermolysis Bullosa: Genotype/Phenotype Correlation in a Case of Moderate Clinical Severity
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Archives of Dermatological Research | 1994 |
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Annual Review of Medicine | 1994 |
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Nature Genetics | 1994 |
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Journal of Investigative Dermatology | 1994 |
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I Anton-Lamprecht |
Journal of Investigative Dermatology | 1994 |
Molecular Basis of the Dystrophic and Junctional Forms of Epidermolysis Bullosa: Mutations in the Type VII Collagen and Kalinin (Laminin 5) Genes
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Identification of the epitopes on human type VII collagen for monoclonal antibodies LH 7.2 and clone I, 185
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Type VII collagen DNA linkage analysis in a Japanese family with dominant dystrophic epidermolysis bullosa
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Journal of Dermatological Science | 1994 |
Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa
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The American Journal of Human Genetics | 1994 |
Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen
AM Christiano, M Ryynänen, J Uitto |
Proceedings of the National Academy of Sciences | 1994 |
Polymerase chain reaction: Basic concepts and clinical applications in dermatology
AC Lo, SR Feldman |
Journal of the American Academy of Dermatology | 1994 |
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Extracellular Matrix Assembly and Structure | 1994 |
Review of Ophthalmic Findings in 204 Patients With Epidermolysis Bullosa
AN Lin, F Murphy, SE Brodie, DM Carter |
American Journal of Ophthalmology | 1994 |
Epidermolysis Bullosa: Pathogenetic Pathways from Mutations to Symptoms
L Bruckner-tuderman |
Annals of Medicine | 1994 |
Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities
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Journal of medical genetics | 1994 |
Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms
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KI Kivirikko |
Annals of Medicine | 1993 |
Type VII Collagen, Anchoring Fibrils, and Epidermolysis Bullosa
RE Burgeson |
Journal of Investigative Dermatology | 1993 |
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BD Zelickson, AS Zelickson |
International Journal of Dermatology | 1993 |
A homozygous insertion–deletion in the type VII collagen gene (COL7A1) in Hallopeau–Siemens dystrophic epidermolysis bullosa
L Hilal, A Rochat, P Duquesnoy, C Blanchet-Bardon, J Wechsler, N Martin, AM Christiano, Y Barrandon, J Uitto, M Goossens, A Hovnanian |
Nature Genetics | 1993 |
A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa
AM Christiano, DS Greenspan, GG Hoffman, X Zhang, Y Tamai, AN Lin, HC Dietz, A Hovnanian, J Uitto |
Nature Genetics | 1993 |
Developmental defects of enamel in humans with hereditary epidermolysis bullosa
JT Wright, LB Johnson, JD Fine |
Archives of Oral Biology | 1993 |
Cultured keratinocyte allografts and wound healing in severe recessive dystrophic epidermolysis bullosa
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Journal of the American Academy of Dermatology | 1993 |
Molecular Biology of the Skin
M Darmon, M Blumenberg |
Molecular Biology of the Skin | 1993 |
Inherited Epidermolysis Bullosa: Clinical Features, Molecular Genetics, and Pathoetiologic Mechanisms
J Uitto, AM Christiano |
Dermatologic Clinics | 1993 |
New Laboratory Methods in the Investigation of Bullous Disease
GJ Giudice, LA Diaz |
Dermatologic Clinics | 1993 |
Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene
A Hovnanian, P Duquesnoy, C Blanchet-Bardon, RG Knowlton, S Amselem, M Lathrop, L Dubertret, J Uitto, M Goossens |
Journal of Clinical Investigation | 1992 |
Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases
J Uitto, AM Christiano |
Journal of Clinical Investigation | 1992 |
Genetic Linkage Between the Collagen VII (COL7A1) Gene and the Autosomal Dominant Form of Dystrophic Epidermolysis Bullosa in Two Dutch Kindreds
NA Gruis, JN Bavinck, PM Steijlen, JG van der Schroeff, AV Haeringen, R Happle, E Mariman, SE van Beersum, J Uitto, BJ Vermeer, RR Frants |
Journal of Investigative Dermatology | 1992 |
Symposium on Epidermolysis Bullosa: Molecular Biology and Pathology of the Cutaneous Basement Membrane Zone
J Uitto, EA Bauer, AN Moshell |
Journal of Investigative Dermatology | 1992 |
Cloning of Partial cDNA for Mouse 180-kDa Bullous Pemphigoid Antigen (BPAG2), a Highly Conserved Collagenous Protein of the Cutaneous Basement Membrane Zone
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Pathogenesis of mechanobullous disorders
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Experimental Dermatology | 1992 |
Keratinocytes and Fibroblasts from a Patient with Mutilating Dystrophic Epidermolysis Bullosa Synthesize Drastically Reduced Amounts of Collagen VII: Lack of Effect of Transforming Growth Factor-beta
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Polymorphism of the Human Genome: Markers for Genetic Linkage Analyses in Heritable Diseases of the Skin
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The Lancet | 1992 |
Inherited and Acquired Blistering Diseases
SI Katz |
New England Journal of Medicine | 1992 |
Molecular Genetics of Epidermolysis Bullosa
EH Epstein |
Science | 1992 |
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Progress in nucleic acid research and molecular biology | 1984 |