Literature DB >> 1377750

Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus.

L al-Imara1, A J Richards, R A Eady, I M Leigh, M Farrall, F M Pope.   

Abstract

Linkage of the anonymous marker D3S2 at 3p21 has been shown in three British families with dominant dystrophic epidermolysis bullosa with a combined lod score of 6.75 at theta = 0. This locus is close to the collagen type VII locus implying that abnormalities of this gene cause dominant dystrophic epidermolysis bullosa.

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Year:  1992        PMID： 1377750      PMCID： PMC1015986          DOI： 10.1136/jmg.29.6.381

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  9 in total

1.  Polymerase chain reaction (PCR) for detection of MspI polymorphism at the D3S2 locus.

Authors:  P S Ganly; P H Rabbitts
Journal:  Nucleic Acids Res       Date:  1991-07-11       Impact factor: 16.971

2.  Epidermolysis bullosa.

Authors:  B C Davison
Journal:  J Med Genet       Date:  1965-12       Impact factor: 6.318

3.  Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa.

Authors:  M Ryynänen; R G Knowlton; M G Parente; L C Chung; M L Chu; J Uitto
Journal:  Am J Hum Genet       Date:  1991-10       Impact factor: 11.025

4.  Epidermolysis bullosa dystrophica dominans (Pasini)-a primary structural defect of the anchoring fibrils.

Authors:  I Anton-Lamprecht; I Hashimoto
Journal:  Hum Genet       Date:  1976-04-15       Impact factor: 4.132

5.  Identification of an epidermal basement membrane defect in recessive forms of dystrophic epidermolysis bullosa by LH 7:2 monoclonal antibody: use in diagnosis.

Authors:  A H Heagerty; A R Kennedy; I M Leigh; P Purkis; R A Eady
Journal:  Br J Dermatol       Date:  1986-08       Impact factor: 9.302

6.  Restriction sites containing CpG show a higher frequency of polymorphism in human DNA.

Authors:  D Barker; M Schafer; R White
Journal:  Cell       Date:  1984-01       Impact factor: 41.582

7.  Human type VII collagen: cDNA cloning and chromosomal mapping of the gene.

Authors:  M G Parente; L C Chung; J Ryynänen; D T Woodley; K C Wynn; E A Bauer; M G Mattei; M L Chu; J Uitto
Journal:  Proc Natl Acad Sci U S A       Date:  1991-08-15       Impact factor: 11.205

Review 8.  Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry.

Authors:  J D Fine; E A Bauer; R A Briggaman; D M Carter; R A Eady; N B Esterly; K A Holbrook; S Hurwitz; L Johnson; A Lin
Journal:  J Am Acad Dermatol       Date:  1991-01       Impact factor: 11.527

9.  Type VII collagen is a major structural component of anchoring fibrils.

Authors:  L Y Sakai; D R Keene; N P Morris; R E Burgeson
Journal:  J Cell Biol       Date:  1986-10       Impact factor: 10.539
  9 in total
  7 in total

1.  Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.

Authors:  A Hovnanian; A Rochat; C Bodemer; E Petit; C A Rivers; C Prost; S Fraitag; A M Christiano; J Uitto; M Lathrop; Y Barrandon; Y de Prost
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

Review 2.  Epidermolysis bullosa: hereditary skin fragility diseases as paradigms in cell biology.

Authors:  R A Eady; M G Dunnill
Journal:  Arch Dermatol Res       Date:  1994       Impact factor: 3.017

Review 3.  Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene.

Authors:  J Uitto; A M Christiano
Journal:  Arch Dermatol Res       Date:  1994       Impact factor: 3.017

4.  Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities.

Authors:  M G Dunnill; A J Richards; G Milana; F Mollica; D Atherton; I Winship; M Farrall; L al-Imara; R A Eady; F M Pope
Journal:  J Med Genet       Date:  1994-10       Impact factor: 6.318

5.  Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa.

Authors:  A Hovnanian; L Hilal; C Blanchet-Bardon; Y de Prost; A M Christiano; J Uitto; M Goossens
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025

6.  Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa.

Authors:  A M Christiano; Y Suga; D S Greenspan; H Ogawa; J Uitto
Journal:  J Clin Invest       Date:  1995-03       Impact factor: 14.808

7.  A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.

Authors:  G Collod; M C Babron; G Jondeau; M Coulon; J Weissenbach; O Dubourg; J P Bourdarias; C Bonaïti-Pellié; C Junien; C Boileau
Journal:  Nat Genet       Date:  1994-11       Impact factor: 38.330
  7 in total

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