Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer

Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas

(2013) C. Yang et al.   BLOOD

The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W)

(2013) N. L. Tomasic et al.   HAEMATOLOGICA

Hypoxia-Inducible Factors in Physiology and Medicine

(2012) Gregg L. Semenza   CELL

SystemicVHLgene functions and the VHL disease

(2012) Hannah L. Bader et al.   FEBS LETTERS

SomaticHIF2AGain-of-Function Mutations in Paraganglioma with Polycythemia

(2012) Zhengping Zhuang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Identification and In Silico Analysis of Novel von Hippel-Lindau (VHL) Gene Variants from a Large Population

(2011) Emanuela Leonardi et al.   ANNALS OF HUMAN GENETICS

Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension

(2011) J. Bond et al.   BLOOD

von Hippel–Lindau disease: A clinical and scientific review

(2011) Eamonn R Maher et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Loss of JAK2 regulation via a heterodimeric VHL-SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemia

(2011) Ryan C Russell et al.   NATURE MEDICINE

AML1 is overexpressed in patients with myeloproliferative neoplasms and mediates JAK2V617F-independent overexpression of NF-E2

(2010) W. Wang et al.   BLOOD

NF-E2 overexpression delays erythroid maturation and increases erythrocyte production

(2009) Manuel Mutschler et al.   BRITISH JOURNAL OF HAEMATOLOGY

Analysis of VHL Gene Alterations and their Relationship to Clinical Parameters in Sporadic Conventional Renal Cell Carcinoma

(2009) A. C. Young et al.   CLINICAL CANCER RESEARCH