Mutations in the γ2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

Epiligrin, a new cell adhesion ligand for integrin α3β1 in epithelial basement membranes

1991 • 771 citations

Kalinin: an epithelium-specific basement membrane adhesion molecule that is a component of anchoring filaments.

1991 • 755 citations

A new nomenclature for the laminins

1994 • 753 citations

Biochemical Mechanisms of Constitutive and Regulated Pre-mRNA Splicing

1991 • 708 citations

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

1991 • 647 citations

Normal and abnormal aspects of proteinuria

1986 • 536 citations

Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa

1991 • 511 citations

The Skipping of Constitutive Exons in Vivo Induced by Nonsense Mutations

1993 • 440 citations

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

1991 • 426 citations

Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs

1993 • 416 citations

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

1992 • 406 citations

Nonsense mutations in the dihydrofolate reductase gene affect RNA processing.

1989 • 367 citations

The anchoring filament protein kalinin is synthesized and secreted as a high molecular weight precursor.

1992 • 345 citations

A single EGF-like motif of laminin is responsible for high affinity nidogen binding.

1993 • 269 citations

The dermal-epidermal junction of human skin contains a novel laminin variant.

1992 • 268 citations

A truncated laminin chain homologous to the B2 chain: structure, spatial expression, and chromosomal assignment.

1992 • 239 citations

A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa

1993 • 199 citations

Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases.

1992 • 158 citations

Monoclonal antibody GB3 defines a widespread defect of several basement membranes and a keratinocyte dysfunction in patients with lethal junctional epidermolysis bullosa.

1991 • 157 citations

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

1991 • 144 citations

Of mice and men: Genetic skin diseases of keratin

1992 • 135 citations

A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex

1993 • 128 citations

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

1992 • 127 citations

Molecular genetics of epidermolysis bullosa

1992 • 110 citations

Identification of Gln726 in nidogen as the amine acceptor in transglutaminase-catalyzed cross-linking of laminin-nidogen complexes.

1992 • 102 citations

The new basement membrane antigen recognized by the monoclonal antibody GB3 is a large size glycoprotein: modulation of its expression by retinoic acid

1988 • 101 citations

Basement membrane proteins kalinin and nicein are structurally and immunologically identical.

1993 • 96 citations

Kalinin is abnormally expressed in epithelial basement membranes of Herlitz's junctional epidermolysis bullosa patients

1992 • 87 citations

Human laminin: cloning and sequence analysis of cDNAs encoding A, B1 and B2 chains, and expression of the corresponding genes in human skin and cultured cells.

1989 • 75 citations

Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex

1993 • 63 citations

A mutation (met→arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex

1993 • 62 citations

The Molecular Genetics of Basement Membrane Diseases

1993 • 61 citations

Type VII Collagen Gene Expression by Human Skin Fibroblasts and Keratinocytes in Culture: Influence of Donor Age and Cytokine Responses

1994 • 60 citations

Epidermolysis bullosa : basic and clinical aspects

1992 • 58 citations

Human nidogen: cDNA cloning, cellular expression, and mapping of the gene to chromosome Iq43.

1989 • 46 citations

DNA-Based Prenatal Diagnosis of Heritable Skin Diseases

1993 • 38 citations

Differential Expression of Type IV Procollagen and Laminin Genes by Fetal vs Adult Skin Fibroblasts in Culture: Determination of Subunit mRNA Steady-State Levels

1989 • 36 citations

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

1992 • 35 citations

Preimplantation diagnosis of genetic diseases: A new technique in assisted reproduction

1993 • 34 citations

Preimplantation Diagnosis of Genetic Diseases: A New Technique in Assisted Reproduction

1993 • 29 citations

Genetic Linkage Between the Collagen VII (COL7A1) Gene and the Autosomal Dominant Form of Dystrophic Epidermolysis Bullosa in Two Dutch Kindreds

1992 • 29 citations

Epidermolysis Bullosa

1992 • 22 citations