Mutations of von Hippel-Lindau Tumor-Suppressor Gene and Congenital Polycythemia

Targeting of HIF-α to the von Hippel-Lindau Ubiquitylation Complex by O ₂ -Regulated Prolyl Hydroxylation

2001 • 5,255 citations

HIFα Targeted for VHL-Mediated Destruction by Proline Hydroxylation: Implications for O ₂ Sensing

2001 • 4,537 citations

C. elegans EGL-9 and Mammalian Homologs Define a Family of Dioxygenases that Regulate HIF by Prolyl Hydroxylation

2001 • 3,215 citations

Ubiquitination of hypoxia-inducible factor requires direct binding to the β-domain of the von Hippel–Lindau protein

2000 • 1,527 citations

HIF-1 and mechanisms of hypoxia sensing

2001 • 1,131 citations

Structure of an HIF-1α-pVHL Complex: Hydroxyproline Recognition in Signaling

2002 • 707 citations

von Hippel-Lindau disease: genetic, clinical, and imaging features.

1995 • 539 citations

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia

2002 • 491 citations

von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF

2001 • 374 citations

Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease

2001 • 364 citations

Mutation and childhood cancer: a probabilistic model for the incidence of retinoblastoma.

1975 • 353 citations

Genotype-phenotype correlation in von Hippel-Lindau syndrome

2001 • 148 citations

Intravenous injection of apoptotic leukocytes enhances bone marrow engraftment across major histocompatibility barriers

2001 • 143 citations

Mutations in the VHL gene in sporadic apparently congenital polycythemia

2003 • 137 citations

Endemic Polycythemia in Russia: Mutation in the VHL Gene

2002 • 137 citations

Congenital Polycythemia in Chuvashia

1997 • 117 citations

Synthetic peptides define critical contacts between elongin C, elongin B, and the von Hippel-Lindau protein

1999 • 105 citations

An Analysis of Phenotypic Variation in the Familial Cancer Syndrome von Hippel–Lindau Disease: Evidence for Modifier Effects

1998 • 96 citations

Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry

2003 • 92 citations

Molecular genetic analysis of von Hippel–Lindau disease

1998 • 84 citations

Tracheal development and the von Hippel–Lindau tumor suppressor homolog in Drosophila

2000 • 70 citations

Genetic heterogeneity of primary familial and congenital polycythemia

2001 • 69 citations

Isolated familial pheochromocytoma as a variant of von Hippel-Lindau disease.

1996 • 61 citations

Cloning and characterization of a mouse gene with homology to the human von Hippel-Lindau disease tumor suppressor gene: implications for the potential organization of the human von Hippel-Lindau disease gene.

1995 • 57 citations

Renal cell carcinomas in trichloroethene(TRI) exposed persons are associated with somatic mutations in the von Hippel-Lindau ( VHL ) tumour suppressor gene

1997 • 55 citations

Familial idiopathic methemoglobinemia revisited: original cases reveal 2 novel mutations in NADH-cytochrome b5 reductase

2002 • 44 citations

VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality

2001 • 44 citations

Classification and molecular biology of polycythemias (erythrocytoses) and thrombocytosis

2003 • 35 citations

Isolated familial pheochromocytoma as a variant of von Hippel-Lindau disease

1996 • 33 citations

Erythrocytosis associated with spontaneous erythroid colony formation and idiopathic hypererythropoietinemia

1987 • 13 citations

Identification of the Chuvash-type congenital polycythemia in patients of Asian and western European ancestry.

2002 • 1 citations