Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities

MOLECULAR AND CELLULAR BIOLOGY OF INTERMEDIATE FILAMENTS

1988 • 1,395 citations

Functional inactivation of genes by dominant negative mutations

1987 • 1,174 citations

OSTEOGENESIS IMPERFECTA IS LINKED TO BOTH TYPE I COLLAGEN STRUCTURAL GENES

1986 • 445 citations

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

1991 • 413 citations

Expression of mutant keratin cDNAs in epithelial cells reveals possible mechanisms for initiation and assembly of intermediate filaments.

1989 • 210 citations

Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes.

1991 • 174 citations

Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene.

1985 • 142 citations

A group of type I keratin genes on human chromosome 17: characterization and expression.

1988 • 142 citations

Low level expression of cytokeratins 8, 18 and 19 in vascular smooth muscle cells of human umbilical cord and in cultured cells derived therefrom, with an analysis of the chromosomal locus containing the cytokeratin 19 gene.

1988 • 141 citations

A primary genetic linkage map for human chromosome 12

1987 • 114 citations

Chromosomal Mapping of Human Keratin Genes: Evidence of Non-linkage

1988 • 75 citations

Abnormal organization of keratin intermediate filaments in cultured keratinocytes of epidermolysis bullosa simplex

1989 • 74 citations

GPT – Epidermolysis Bullosa Simplex (EBS Ogna) Linkage in Man

1973 • 72 citations

Chromosomal assignments of human type I and type II cytokeratin genes to different chromosomes

1988 • 72 citations

A mapped set of genetic markers for human chromosome 9

1988 • 65 citations

Two type II keratin genes are localized on human chromosome 12

1989 • 48 citations

Localization of the gene for human simple epithelial keratin 18 to chromosome 12 using polymerase chain reaction

1990 • 35 citations

Epidermolysis Bullosa Simplex (Koebner) Is a Keratin Disorder

1991 • 34 citations

Report of the committee on the genetic constitution of chromosomes 7 and 8

1989 • 23 citations

Epidermolysis bullosa: Evidence for linkage to genetic markers on chromosome 1 in a family with the autosomal dominant simplex form

1990 • 22 citations

Changing Clinical and Laboratory Concepts in Inherited Epidermolysis Bullosa

1988 • 22 citations

Isolation and mapping of a polymorphic DNA sequence (pCMM86) on chromosome 17q [D17S74]

1988 • 20 citations

Isolation and mapping of a polymorphic DNA sequence pYNH15 on chromosome 12q [D12S17]

1988 • 17 citations

Isolation and mapping of a polymorphic DNA sequence pEFD33.2 on chromosome 12 [D12S14]

1988 • 14 citations

Isolation and subregional mapping of a human cDNA clone detecting a common RELP on chromosome 12

1984 • 13 citations

Two hour DNA hybridizations using a new transfer membrane

1989 • 9 citations

Biochemical Identification of Alpha-Fodrin and Protein 4.1 in Human Keratinocytes

1991 • 9 citations

Localisation of a cDNA clone for human cytokeratin 18 to chromosome 17p11?p12 by in situ hybridisation

1990 • 6 citations

Isolation and mapping of a polymorphic DNA sequence (pCMM1.2) on chromosome 12q [D12S15]

1988 • 5 citations