Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.
about
Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor prolineHypoxic regulation of erythropoiesis and iron metabolismThe human side of hypoxia-inducible factorNovel exon 12 mutations in the HIF2A gene associated with erythrocytosisA novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding grooveTyrosine kinase inhibitors and mesenchymal stromal cells: effects on self-renewal, commitment and functionsIncreased size of solid organs in patients with Chuvash polycythemia and in mice with altered expression of HIF-1alpha and HIF-2alpha.The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia.Chuvash polycythemia VHLR200W mutation is associated with down-regulation of hepcidin expression.Clinical utility gene card for: familial erythrocytosis.von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesisVon Hippel-Lindau disease (VHL): a need for a murine model with retinal hemangioblastomaA phenotypic perspective on Mammalian oxygen sensor candidates.Oxygen sensing: recent insights from idiopathic erythrocytosisThe phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W).Regulation of gene expression by hypoxia: integration of the HIF-transduced hypoxic signal at the hypoxia-responsive elementRegulation of erythropoiesis by hypoxia-inducible factorsGenetic causes of erythrocytosis and the oxygen-sensing pathway.Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range.The von Hippel-Lindau Chuvash mutation in mice alters cardiac substrate and high-energy phosphate metabolism.Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer.HIF pathway mutations and erythrocytosis.Hypoxia. 5. Hypoxia and hematopoiesis.Congenital erythrocytosis.The von Hippel-Lindau Chuvash mutation promotes pulmonary hypertension and fibrosis in mice.Advances in understanding the pathogenesis of familial myeloproliferative neoplasms.Loss of JAK2 regulation via a heterodimeric VHL-SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemia.Genetic basis of congenital erythrocytosis: mutation update and online databases.The JAK2 V617F mutation frequently occurs in patients with portal and mesenteric venous thrombosis
P2860
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P2860
Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.
description
2005 nî lūn-bûn
@nan
2005 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Von Hippel-Lindau-dependent po ...... tification of a novel cluster.
@ast
Von Hippel-Lindau-dependent po ...... tification of a novel cluster.
@en
Von Hippel-Lindau-dependent po ...... tification of a novel cluster.
@nl
type
label
Von Hippel-Lindau-dependent po ...... tification of a novel cluster.
@ast
Von Hippel-Lindau-dependent po ...... tification of a novel cluster.
@en
Von Hippel-Lindau-dependent po ...... tification of a novel cluster.
@nl
prefLabel
Von Hippel-Lindau-dependent po ...... tification of a novel cluster.
@ast
Von Hippel-Lindau-dependent po ...... tification of a novel cluster.
@en
Von Hippel-Lindau-dependent po ...... tification of a novel cluster.
@nl
P2093
P1433
P1476
Von Hippel-Lindau-dependent po ...... ntification of a novel cluster
@en
P2093
Bruno Nobili
Bruno Rotoli
Carmela Migliaccio
Francesca Punzo
Francesca Rossi
Giuseppe Parisi
Marcella Ferraro
Paola Cirillo
Silverio Perrotta
Valeria Cucciolla
P304
P356
10.1182/BLOOD-2005-06-2422
P407
P577
2005-10-06T00:00:00Z