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

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scientific article published on 28 March 2013

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rdf:type	Item
description	videnskabelig artikel (da) article científic (ca) articolo scientifico (it) artigo científico (pt) bilimsel makale (tr) vedecký článok (sk) vetenskaplig artikel (sv) vědecký článek (cs) wetenschappelijk artikel (nl) wissenschaftlicher Artikel (de) научни чланак (sr) article scientifique (fr) artículu científicu espublizáu en 2013 (ast) наукова стаття, опублікована в березні 2013 (uk) scientific article published on 28 March 2013 (en) مقالة علمية نشرت في 28 مارس 2013 (ar)
publication date	wds:Q37685596-DB5B0FD2-3E2B-42AD-9D52-4BADA5D6CE3A
publication date	2013-03-28 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q37685596-1CCB722B-EB59-46A5-81E4-8C0A0291B91A
language of work or name	English
cites work	wds:Q37685596-0A93383D-D633-4831-A89B-F004E2B24E59 wds:Q37685596-0DDFB51C-56F3-4D7E-BBA1-D41D0593FA5C wds:Q37685596-14BF9BA3-7E64-404F-A4D1-1BF95772E182 wds:Q37685596-1F7EF889-3023-4886-BBD6-847B40811896 wds:Q37685596-56263417-AF2A-4828-B94B-7FB5FDE48DBE wds:Q37685596-5BEB1937-2345-4E61-B069-C8441CFC32D8 wds:Q37685596-5D171D4D-BAE3-4B5C-B77D-4758A4B2E6A3 wds:Q37685596-6D77B6DF-5794-4642-89AF-C6E9424CDA49 wds:Q37685596-6EF053D4-2790-451D-A89C-264AF0CDFE03 wds:Q37685596-752CDB91-9953-4410-B664-EB12AE20E97F wds:Q37685596-7590DA9D-C7FD-48D4-B2FE-0FEDD8404EF0 wds:Q37685596-7FFDFA32-F34C-46D3-B095-B315C0635593 wds:Q37685596-84C9C982-90B1-4287-BE0E-7F543FF58789 wds:Q37685596-A9572B80-DA8E-4F4D-8608-5AEA61D25817 wds:Q37685596-ACAAB405-1D94-495F-AD0C-C43550F05BF1 wds:Q37685596-BFBBC995-1398-4894-A430-7C7C4832523D wds:Q37685596-C18C7A9B-CD9F-4E7A-B12C-CEB39046F596 wds:Q37685596-C4C7C6C2-1597-4933-A2D3-C332A71ACD1D wds:Q37685596-CA52CB25-494C-428C-A8BA-54CBA1DEA012 wds:Q37685596-D29CDE0A-8406-4822-9FA7-CDACB1817BE6 wds:Q37685596-D2CF1222-4F3C-40D9-8833-82EE10F10D5D wds:Q37685596-E7A408EC-8C66-428A-8599-585B925B4477 wds:Q37685596-F6042897-4543-4D97-AB4D-B6EE5161A10A wds:Q37685596-F885E2D4-71E2-40C3-855A-C8044EF9E174 wds:Q37685596-FE86BC8C-4A40-4F54-B6D0-83C2240FEAD2
cites work	Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia AML1 is overexpressed in patients with myeloproliferative neoplasms and mediates JAK2V617F-independent overexpression of NF-E2 Hypoxia-inducible factors in physiology and medicine Mutations of the VHL tumour suppressor gene in renal carcinoma von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis Von Hippel-Lindau disease: a genetic study Relative expression software tool (REST©) for group-wise comparison and statistical analysis of relative expression results in real-time PCR Analysis of VHL Gene Alterations and their Relationship to Clinical Parameters in Sporadic Conventional Renal Cell Carcinoma Molecular pathology of von HippelLindau disease and the VHL tumour suppressor gene A common progenitor for human myeloid and lymphoid cells Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster. Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosis. Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients Loss of JAK2 regulation via a heterodimeric VHL-SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemia. von Hippel-Lindau disease: a clinical and scientific review Systemic VHL gene functions and the VHL disease Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia. Mutations in the VHL gene in sporadic apparently congenital polycythemia Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W). NF-E2 overexpression delays erythroid maturation and increases erythrocyte production. The "ascorbate" effect on 2,3-DPG is known to be due to oxalate
author name string	wds:Q37685596-198885DC-A1FB-4790-8ADA-B1C82DB095A2 wds:Q37685596-5E743640-EF46-425F-A4F7-50BFC0FC54F8 wds:Q37685596-6A6C1680-4B3A-4BEE-81FE-4C84A02E31CB wds:Q37685596-A7DEF332-B38C-47FB-B46C-22E5F2CBF65C wds:Q37685596-D99B44F8-75AA-4D8C-A2CC-ABE75D7BC961
author name string	Josef T Prchal Vladimir Divoky Felipe Lorenzo Richard Drachtman Hari Vankayalapati
rdfs:label	Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer. (en) Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer. (nl) Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer. (ast)
skos:prefLabel	Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer. (en) Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer. (nl) Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer. (ast)
name	Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer. (en) Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer. (nl) Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer. (ast)
author	wds:Q37685596-48298FDE-58C7-43CE-9682-FFCBDC6A8883 wds:Q37685596-692BAFF2-DE08-40CF-B7F3-7A054033E273
author	Lucie Láníková Chunzhang Yang
title	wds:Q37685596-8ED907C8-EC0F-4E8D-BAFA-8D907BCC5A9F
title	Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer (en)
page(s)	wds:Q37685596-FE9F411E-5104-40DE-9C5B-8928BEA1A915
page(s)	3918-3924
instance of	wds:Q37685596-88C33CC0-DA0F-4AA3-A93D-199A9AF32EE3
instance of	scholarly article

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