Two novel type 2N von Willebrand disease–causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations.

1988 • 636 citations

A Revised Classification of von Willebrand Disease

1994 • 595 citations

Defective protein folding as a basis of human disease

1995 • 540 citations

Structure of the gene for human von Willebrand factor

1989 • 497 citations

Amino acid sequence of human von Willebrand factor

1986 • 486 citations

Participation of the endoplasmic reticulum chaperone calnexin (p88, IP90) in the biogenesis of the cystic fibrosis transmembrane conductance regulator.

1994 • 359 citations

Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor.

1990 • 347 citations

Biosynthesis of von Willebrand protein by human endothelial cells: processing steps and their intracellular localization.

1984 • 313 citations

Induction of specific storage organelles by von Willebrand factor propolypeptide

1991 • 276 citations

A major factor VIII binding domain resides within the amino-terminal 272 amino acid residues of von Willebrand factor.

1987 • 263 citations

Identification of disulfide-bridged substructures within human von Willebrand factor

1987 • 262 citations

Impaired intracellular transport produced by a subset of type IIA von Willebrand disease mutations.

1992 • 230 citations

cDNA sequences for human von Willebrand factor reveal five types of repeated domains and five possible protein sequence polymorphisms

1986 • 204 citations

ER-associated and proteasomemediated protein degradation: how two topologically restricted events came together

1997 • 190 citations

Family studies and prenatal diagnosis in severe von Willebrand disease by polymerase chain reaction amplification of a variable number tandem repeat region of the von Willebrand factor gene

1990 • 160 citations

BiP binds type I procollagen pro alpha chains with mutations in the carboxyl-terminal propeptide synthesized by cells from patients with osteogenesis imperfecta.

1993 • 153 citations

Assembly and routing of von Willebrand factor variants: the requirements for disulfide-linked dimerization reside within the carboxy-terminal 151 amino acids.

1991 • 141 citations

Domains involved in multimer assembly of von willebrand factor (vWF): multimerization is independent of dimerization.

1990 • 134 citations

An endoplasmic reticulum storage disease causing congenital goiter with hypothyroidism.

1996 • 116 citations

A sensitive ELISA for von Willebrand factor (vWf:Ag)

1987 • 114 citations

Association between calnexin and a secretion-incompetent variant of human alpha 1-antitrypsin.

1994 • 112 citations

von Willebrand Disease Masquerading as Haemophilia A

1992 • 102 citations

A sensitive ELISA for von Willebrand factor (vWf:Ag)

1987 • 101 citations

Localization of a factor VIII binding domain on a 34 kilodalton fragment of the N-terminal portion of von Willebrand factor

1987 • 98 citations

Topology and order of formation of interchain disulfide bonds in von Willebrand factor

1987 • 95 citations

Characterization of the von Willebrand Factor Gene (VWF) in von Willebrand Disease Type III Patients from 24 Families of Swedish and Finnish Origin

1994 • 92 citations

Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis.

1998 • 89 citations

Tetranucleotide repeat polymorphism in the vWF gene

1990 • 76 citations

Factor VIII Binding Assay of von Willebrand Factor and the Diagnosis of Type 2N von Willebrand Disease -Results of an International Survey

1996 • 74 citations

Precise Carrier Diagnosis in Families with Haemophilia A: Use of Conformation Sensitive Gel Electrophoresis for Mutation Screening and Polymorphism Analysis

1998 • 72 citations

The "Normandy" variant of von Willebrand disease: characterization of a point mutation in the von Willebrand factor gene

1991 • 70 citations

Disulfide bonds required to assemble functional von Willebrand factor multimers.

1994 • 68 citations

Mutations of von Willebrand factor gene in families with von Willebrand disease in the Aland Islands.

1993 • 68 citations

A Novel Mutation in the D3 Domain of von Willebrand Factor Markedly Decreases Its Ability to Bind Factor VIII and Affects Its Multimerization

1998 • 50 citations

The multimeric structure of plasma F VIII: Rag studied by electroelution and immunoperoxidase detection

1986 • 44 citations

Characterisation of Type 2N von Willebrand Disease Using Phenotypic and Molecular Techniques

1996 • 38 citations

Family studies in von Willebrand's disease by analysis of restriction fragment length polymorphisms and an intragenic variable number tandem repeat (VNTR) sequence

1990 • 29 citations

A Two-Site, Monoclonal Antibody-Based Immunoassay for von Willebrand Factor -Demonstration that vWF Function Resides in a Conformational Epitope

1986 • 28 citations

Enzyme linked immunosorbent assay (ELISA) for the measurement of factor VIII coagulant antigen (CAg) using haemophilic antibodies

1986 • 27 citations

Analysis of Arg834Gln and Val902Glu type 2A von Willebrand disease mutations: studies with recombinant von Willebrand factor and correlation with patient characteristics

1996 • 16 citations

PCR detection of the pKM.19/Scrfl RFLP (D7S23), a marker closely linked to the cystic fibrosis mutation

1990 • 11 citations

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