Literature DB >> 8669458

Lessons from skin blistering: molecular mechanisms and unusual patterns of inheritance?

A S Paller1.   

Abstract

Mesh：

Year:  1996        PMID： 8669458      PMCID： PMC1861640     

Source DB:  PubMed          Journal:  Am J Pathol        ISSN： 0002-9440            Impact factor:   4.307


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  35 in total

1.  Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene.

Authors:  A Hovnanian; P Duquesnoy; C Blanchet-Bardon; R G Knowlton; S Amselem; M Lathrop; L Dubertret; J Uitto; M Goossens
Journal:  J Clin Invest       Date:  1992-09       Impact factor: 14.808

2.  Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities.

Authors:  J M Bonifas; A L Rothman; E H Epstein
Journal:  Science       Date:  1991-11-22       Impact factor: 47.728

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.  Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa.

Authors:  L Pulkkinen; A M Christiano; T Airenne; H Haakana; K Tryggvason; J Uitto
Journal:  Nat Genet       Date:  1994-03       Impact factor: 38.330

5.  Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.

Authors:  P A Coulombe; M E Hutton; A Letai; A Hebert; A S Paller; E Fuchs
Journal:  Cell       Date:  1991-09-20       Impact factor: 41.582

6.  Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease.

Authors:  R Vassar; P A Coulombe; L Degenstein; K Albers; E Fuchs
Journal:  Cell       Date:  1991-01-25       Impact factor: 41.582

7.  The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes.

Authors:  J Cheng; A J Syder; Q C Yu; A Letai; A S Paller; E Fuchs
Journal:  Cell       Date:  1992-09-04       Impact factor: 41.582

8.  Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis.

Authors:  E Fuchs; R A Esteves; P A Coulombe
Journal:  Proc Natl Acad Sci U S A       Date:  1992-08-01       Impact factor: 11.205

Review 9.  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

10.  Ichthyosis bullosa of Siemens--a disease involving keratin 2e.

Authors:  W H McLean; S M Morley; E B Lane; R A Eady; W A Griffiths; D G Paige; J I Harper; C Higgins; I M Leigh
Journal:  J Invest Dermatol       Date:  1994-09       Impact factor: 8.551
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