Molecular genetics of epidermolysis bullosa

MOLECULAR AND CELLULAR BIOLOGY OF INTERMEDIATE FILAMENTS

1988 • 1,395 citations

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

1991 • 647 citations

Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa

1991 • 511 citations

The molecular biology of intermediate filaments

1985 • 475 citations

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

1991 • 460 citations

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

1991 • 426 citations

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

1991 • 413 citations

A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering

1992 • 406 citations

Type VII collagen forms an extended network of anchoring fibrils.

1987 • 383 citations

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

1991 • 381 citations

Studies on the Pathogenesis of Epidermolysis Bullosa**From the Section of Dermatology, Department of Medicine, University of Chicago, Chicago 37, Illinois.

1962 • 308 citations

Structure of the human desmoplakins. Implications for function in the desmosomal plaque.

1990 • 275 citations

Elucidating the early stages of keratin filament assembly.

1990 • 243 citations

Evaluation of Anchoring Fibrils and Other Components of the Dermal-Epidermal Junction in Dystrophic Epidermolysis Bullosa by a Quantitative Ultrastructural Technique

1985 • 242 citations

Suppression by antisense mRNA demonstrates a requirement for the glial fibrillary acidic protein in the formation of stable astrocytic processes in response to neurons.

1991 • 241 citations

The coiled coil of in vitro assembled keratin filaments is a heterodimer of type I and II keratins: use of site-specific mutagenesis and recombinant protein expression.

1990 • 239 citations

The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines.

1987 • 237 citations

Epidermolysis Bullosa Simplex (Dowling-Meara Type) Is a Genetic Disease Characterized by an Abnormal Keratin-Filament Network Involving Keratins K5 and K14

1991 • 212 citations

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

1989 • 210 citations

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

1991 • 206 citations

The two-chain coiled-coil molecule of native epidermal keratin intermediate filaments is a type I-type II heterodimer.

1990 • 206 citations

A function for keratins and a common thread among different types of epidermolysis bullosa simplex diseases.

1991 • 202 citations

The desmoplakin carboxyl terminus coaligns with and specifically disrupts intermediate filament networks when expressed in cultured cells.

1992 • 194 citations

On the Molecular Genetics of Retinitis Pigmentosa

1992 • 189 citations

Heritable fragile sites on human chromosomes

1981 • 180 citations

Functions of intermediate filaments

1989 • 178 citations

Assembly properties of dominant and recessive mutations in the small mouse neurofilament (NF-L) subunit.

1990 • 173 citations

Epidermolysis Bullosa Dystrophica-Recessive: A Possible Role Of Anchoring Fibrils In The Pathogenesis

1975 • 173 citations

Disruption of the in vivo distribution of the intermediate filaments in fibroblasts through the microinjection of a specific monoclonal antibody

1981 • 170 citations

Intermediate filaments in 3T3 cells collapse after intracellular injection of a monoclonal anti-intermediate filament antibody

1981 • 169 citations

Retrovirus-mediated transgenic keratin expression in cultured fibroblasts: Specific domain functions in keratin stabilization and filament formation

1990 • 165 citations

Do the ends justify the mean? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations.

1992 • 152 citations

Epidermolysis bullosa herpetiformis Dowling-Meara. Report of a case and pathomorphogenesis.

1982 • 143 citations

Selective Involvement of Keratins K1 and K10 in the Cytoskeletal Abnormality of Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma)

1992 • 135 citations

Deletions in epidermal keratins leading to alterations in filament organization in vivo and in intermediate filament assembly in vitro.

1990 • 135 citations

THE ROLE OF HUMAN SKIN COLLAGENASE IN EPIDERMOLYSIS BULLOSA

1977 • 134 citations

Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils.

1992 • 127 citations

Absence of intermediate filaments in a human adrenal cortex carcinoma-derived cell line

1986 • 118 citations

Characterization of dominant and recessive assembly-defective mutations in mouse neurofilament NF-M.

1990 • 116 citations

Monoclonal Antibodies to Anchoring Fibrils for the Diagnosis of Epidermolysis Bullosa

1983 • 110 citations

Modulation of keratin intermediate filament assembly by single amino acid exchanges in the consensus sequence at the C-terminal end of the rod domain

1991 • 109 citations

Keratin incorporation into intermediate filament networks is a rapid process.

1991 • 97 citations

Coiling of intermediate filaments induced by microinjection of a vimentin-specific antibody does not interfere with locomotion and mitosis.

1981 • 96 citations

Desmin/vimentin intermediate filaments are dispensable for many aspects of myogenesis.

1991 • 96 citations

Assembly of amino-terminally deleted desmin in vimentin-free cells.

1990 • 91 citations

Cyclic hair-loss and regrowth in transgenic mice overexpressing an intermediate filament gene.

1990 • 91 citations

Polarized and functional epithelia can form after the targeted inactivation of both mouse keratin 8 alleles.

1991 • 81 citations

Light and electron microscopic studies of physical injury to the skin II. Friction

1974 • 78 citations

Lipids in Normal and Pathological Desquamation

1991 • 78 citations

Rearrangement of the keratin cytoskeleton after combined treatment with microtubule and microfilament inhibitors.

1983 • 74 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

Drug-Induced Alterations of Cytokeratin Organization in Cultured Epithelial Cells

1983 • 68 citations

Gastrointestinal Manifestations of Epidermolysis Bullosa A Study of 101 Patients

1992 • 67 citations

Mapping of epidermolysis bullosa simplex mutation to chromosome 12.

1991 • 55 citations

Clinical, Laboratory, and Histopathologic Indicators of the Development of Progressive Acute Graft-Versus-Host Disease

1992 • 42 citations

A metastatic malignant melanoma with 24 chromosomes

1981 • 42 citations

Corneal Involvement in Epidermolysis Bullosa Simplex

1980 • 42 citations

intermediate filament formation after transfection with modified hamster vimentin and desmin genes

1987 • 39 citations

Electron Microscopy in the Early Diagnosis of Genetic Disorders of the Skin

1978 • 35 citations

Collagenase Expression in Skin Fibroblasts from Families with Recessive Dystrophic Epidermolysis Bullosa

1989 • 31 citations

Exclusion of linkage between the collagenase gene and generalized recessive dystrophic epidermolysis bullosa phenotype.

1991 • 29 citations

Reorganization of Keratin Intermediate Filaments by the Drug-Induced Disruption of Microfilaments in Cultured Human Keratinocytes

1986 • 15 citations