Published in Thromb Res on July 01, 1978
Full-length von Willebrand factor (vWF) cDNA encodes a highly repetitive protein considerably larger than the mature vWF subunit. EMBO J (1986) 2.35
Assembly and routing of von Willebrand factor variants: the requirements for disulfide-linked dimerization reside within the carboxy-terminal 151 amino acids. J Cell Biol (1991) 1.34
Domains involved in multimer assembly of von willebrand factor (vWF): multimerization is independent of dimerization. EMBO J (1990) 1.18
Expression of variant von Willebrand factor (vWF) cDNA in heterologous cells: requirement of the pro-polypeptide in vWF multimer formation. EMBO J (1987) 1.09
Structural analysis of factor VIII antigen in von Willebrand disease. Proc Natl Acad Sci U S A (1980) 0.98
The pro-polypeptide of von Willebrand factor is required for the formation of a functional factor VIII-binding site on mature von Willebrand factor. Biochem J (1991) 0.83
Von Willebrand's disease: a clinical and molecular enigma. Twelfth Annual Paul M. Aggeler Memorial Lecture. West J Med (1982) 0.80
A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat Genet (1996) 3.58
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul Disord (1991) 3.37
Human blood platelet adhesion to artery subendothelium is mediated by factor VIII-Von Willebrand factor bound to the subendothelium. Nature (1979) 3.06
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet (2000) 2.52
Construction of cDNA coding for human von Willebrand factor using antibody probes for colony-screening and mapping of the chromosomal gene. Nucleic Acids Res (1985) 2.50
Purification of an inhibitor of plasminogen activator (antiactivator) synthesized by endothelial cells. J Biol Chem (1984) 2.22
Detection of an unusually stable fibrinolytic inhibitor produced by bovine endothelial cells. Proc Natl Acad Sci U S A (1983) 2.20
Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nat Genet (1992) 2.04
Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet (1996) 2.03
[Prion disease: a new class of neurodegenerative disorders]. Ned Tijdschr Geneeskd (1995) 2.02
The life cycle of coagulation factor VIII in view of its structure and function. Blood (1998) 1.91
Endothelial plasminogen activator inhibitor (PAI): a new member of the Serpin gene family. EMBO J (1986) 1.78
Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V. Lancet (1994) 1.76
Multiple B-cell clones producing antibodies directed to the spacer and disintegrin/thrombospondin type-1 repeat 1 (TSP1) of ADAMTS13 in a patient with acquired thrombotic thrombocytopenic purpura. J Thromb Haemost (2006) 1.68
The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nat Genet (1992) 1.56
Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Nat Genet (1996) 1.47
A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nat Genet (1994) 1.47
Vascular endothelial cells synthesize a plasma membrane protein indistinguishable from the platelet membrane glycoprotein IIa. J Biol Chem (1985) 1.46
Mitochondrial DNA analysis as a diagnostic tool in singleton cases of Leber's hereditary optic neuropathy. Ophthalmic Paediatr Genet (1993) 1.42
[Leber's optic nerve atrophy; a mitochondrial hereditary disease]. Ned Tijdschr Geneeskd (1995) 1.38
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am J Hum Genet (1997) 1.37
Neutrophil and monocyte adherence to and migration across monolayers of cytokine-activated endothelial cells: the contribution of CD18, ELAM-1, and VLA-4. Blood (1991) 1.37
Assembly and routing of von Willebrand factor variants: the requirements for disulfide-linked dimerization reside within the carboxy-terminal 151 amino acids. J Cell Biol (1991) 1.34
ADAMTS-13, von Willebrand factor and related parameters in severe sepsis and septic shock. J Thromb Haemost (2007) 1.32
Purification of human antihemophilic factor (factor VIII) by gel chromatography. Biochim Biophys Acta (1970) 1.32
Sulfation of Tyr1680 of human blood coagulation factor VIII is essential for the interaction of factor VIII with von Willebrand factor. J Biol Chem (1991) 1.32
Heterogeneity of human factor VIII. I. Characterization of factor VIII present in the supernatant of cryoprecipitate. J Lab Clin Med (1978) 1.30
Identification of distinct epitopes of endoglin, an RGD-containing glycoprotein of endothelial cells, leukemic cells, and syncytiotrophoblasts. Int Immunol (1992) 1.28
Factor VIII, a series of homologous oligomers and a complex of two proteins. Thromb Res (1974) 1.26
Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Hum Genet (1997) 1.26
Thrombin-induced release of von Willebrand factor from endothelial cells is mediated by phospholipid methylation. Prostacyclin synthesis is independent of phospholipid methylation. J Biol Chem (1984) 1.26
Tissue distribution of factor VIII gene expression in vivo--a closer look. Thromb Haemost (2001) 1.24
Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am J Hum Genet (1996) 1.23
The sequence Glu1811-Lys1818 of human blood coagulation factor VIII comprises a binding site for activated factor IX. J Biol Chem (1996) 1.23
Red blood cell size is important for adherence of blood platelets to artery subendothelium. Blood (1983) 1.23
The light chain of factor VIII comprises a binding site for low density lipoprotein receptor-related protein. J Biol Chem (1999) 1.19
Biogenesis of von Willebrand factor-containing organelles in heterologous transfected CV-1 cells. EMBO J (1993) 1.19
Domains involved in multimer assembly of von willebrand factor (vWF): multimerization is independent of dimerization. EMBO J (1990) 1.18
Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B. Nat Genet (1993) 1.17
Human vascular endothelial cells express a membrane protein complex immunochemically indistinguishable from the platelet VLA-2 (glycoprotein Ia-IIa) complex. Blood (1989) 1.16
Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation. Hum Genet (1994) 1.16
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center. Hum Mol Genet (1997) 1.15
Endothelial cell dysfunction in homocystinuria. Eur J Clin Invest (1983) 1.15
Acquired, transient factor X (Stuart factor) deficiency in patient with mycoplasma pneumonial infection. Scand J Haematol (1979) 1.15
Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome. J Med Genet (1994) 1.15
Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. Am J Hum Genet (1995) 1.13
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts. J Inherit Metab Dis (1996) 1.13
Regional localization of the gene for thyroid peroxidase to human chromosome 2pter----p12. Cytogenet Cell Genet (1988) 1.10
Von Willebrand factor in the vessel wall mediates platelet adherence. Blood (1985) 1.09
Cultured human endothelial cells synthesize a plasma membrane protein complex immunologically related to the platelet glycoprotein IIb/IIIa complex. Blood (1986) 1.09
Identification of a binding site for blood coagulation factor IXa on the light chain of human factor VIII. J Biol Chem (1994) 1.07
Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations. Biochem Biophys Res Commun (1994) 1.05
Immunocytochemical localization of fibrinogen, platelet factor 4, and beta thromboglobulin in thin frozen sections of human blood platelets. J Clin Invest (1983) 1.05
Immunologic detection of endothelial cells in human whole blood. Blood (1991) 1.05
Maintenance of vascular endothelial cell-specific properties after immortalization with an amphotrophic replication-deficient retrovirus containing human papilloma virus 16 E6/E7 DNA. Exp Cell Res (1995) 1.03
Quantitative analysis of von Willebrand factor and its propeptide in plasma in acquired von Willebrand syndrome. Thromb Haemost (1998) 1.03
Cell cycle-dependent inhibition of human vascular smooth muscle cell proliferation by prostaglandin E1. Exp Cell Res (1985) 1.02
Binding of factor VIII-von Willebrand factor to human arterial subendothelium precedes increased platelet adhesion and enhances platelet spreading. J Lab Clin Med (1981) 1.02
Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease) to markers of chromosomes 1 and 17. Neurology (1990) 1.01
Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. Am J Hum Genet (1997) 1.01
Adhesion of platelets to human artery subendothelium: effect of factor VIII-von Willebrand factor of various multimeric composition. Blood (1984) 1.01
Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations. Acta Neuropathol (1995) 1.00
Platelet adherence to subendothelium of human arteries in pulsatile and steady flow. Thromb Res (1981) 0.99
Structure and function of human tissue-type plasminogen activator (t-PA). J Cell Biochem (1986) 0.99
Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease. Neurology (1996) 0.98
The clinical spectrum of limb girdle muscular dystrophy. A survey in The Netherlands. Brain (1996) 0.98
Regulation of the expression of mitochondrial proteins: relationship between mtDNA copy number and cytochrome-c oxidase activity in human cells and tissues. Biochim Biophys Acta (1993) 0.98
Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A. Hum Mol Genet (1993) 0.98
Action of lovastatin, simvastatin, and pravastatin on sterol synthesis and their antiproliferative effect in cultured myoblasts from human striated muscle. Biochem Pharmacol (1996) 0.97
Prospect for enzyme therapy in glycogenosis II variants: a study on cultured muscle cells. J Neurol (1988) 0.96
Ionizing radiation enhances platelet adhesion to the extracellular matrix of human endothelial cells by an increase in the release of von Willebrand factor. Radiat Res (1994) 0.96
No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers. Hum Genet (1996) 0.96
Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation. Brain (1998) 0.95
Binding and inactivation of prostacyclin (PGI2) by human erythrocytes. Br J Haematol (1983) 0.94
Functional domains on von Willebrand factor. Recognition of discrete tryptic fragments by monoclonal antibodies that inhibit interaction of von Willebrand factor with platelets and with collagen. J Clin Invest (1984) 0.94
Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies. Hum Genet (1994) 0.94
The role of cleavage of the light chain at positions Arg1689 or Arg1721 in subunit interaction and activation of human blood coagulation factor VIII. J Biol Chem (1995) 0.94
X chromosome inactivation in carriers of Barth syndrome. Am J Hum Genet (1998) 0.94
Early circulating levels of endothelial cell activation markers in aneurysmal subarachnoid haemorrhage: associations with cerebral ischaemic events and outcome. J Neurol Neurosurg Psychiatry (2006) 0.94
Genetic localization of Bethlem myopathy. Neurology (1996) 0.93
Significance of plasma fibrinopeptide A (fpA) in patients with malignancy. J Lab Clin Med (1980) 0.93
Comparison of secretion and subcellular localization of von Willebrand protein with that of thrombospondin and fibronectin in cultured human vascular endothelial cells. Biochim Biophys Acta (1985) 0.93
The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2. Hum Genet (1991) 0.93
Ganglioside storage, hexosaminidase lability, and urinary oligosaccharides in adult Sandhoff's disease. Neurology (1987) 0.92
Small GTP-binding protein Ral modulates regulated exocytosis of von Willebrand factor by endothelial cells. Arterioscler Thromb Vasc Biol (2001) 0.92
Uptake and stability of human and bovine acid alpha-glucosidase in cultured fibroblasts and skeletal muscle cells from glycogenosis type II patients. Exp Cell Res (1984) 0.92
Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset. Neurology (1986) 0.92
Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies. Ann Neurol (1994) 0.92
Small GTP-binding proteins in human endothelial cells. Br J Haematol (1998) 0.91
Mitochondria in cultured human muscle cells depleted of mitochondrial DNA. Eur J Cell Biol (1993) 0.91
Application of sepharose-linked monoclonal antibodies for the immunoradiometric measurement of factor VIII-procoagulant antigen. Thromb Res (1984) 0.91
Efficiency of von Willebrand factor-mediated targeting of interleukin-8 into Weibel-Palade bodies. J Thromb Haemost (2007) 0.90
Ultrastructural localization of factor VIII procoagulant antigen in human liver hepatocytes. Nature (1985) 0.90
Assembly of multimeric von Willebrand factor directs sorting of P-selectin. Arterioscler Thromb Vasc Biol (2000) 0.89
Evidence that the primary binding site of von Willebrand factor that mediates platelet adhesion on subendothelium is not collagen. J Clin Invest (1988) 0.89
Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37. Hum Mol Genet (1996) 0.88
Biosynthesis, processing and secretion of von Willebrand factor: biological implications. Best Pract Res Clin Haematol (2001) 0.88
Distinct adhesive properties of granulocytes and monocytes to endothelial cells under static and stirred conditions. J Immunol (1990) 0.87