Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia - Test2 - elhamkhani - TriplyDB

Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia

Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia

http://www.wikidata.org/entity/Q24607557

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Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas Realizing the promise of cancer predisposition genes.Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.Current views on cell metabolism in SDHx-related pheochromocytoma and paraganglioma Paraganglioma of the organ of Zuckerkandl associated with a somatic HIF2α mutation: A case report.Anthracyclines suppress pheochromocytoma cell characteristics, including metastasis, through inhibition of the hypoxia signaling pathway.Molecular markers of paragangliomas/pheochromocytomas Paragangliomas/Pheochromocytomas: clinically oriented genetic testing Targeting iron metabolism in drug discovery and delivery Hypoxia-inducible factor-2α promotes tumor progression and has crosstalk with Wnt/β-catenin signaling in pancreatic cancer Pheochromocytoma and paraganglioma: diagnosis, genetics, management, and treatment Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene Ocular manifestations of hypoxia-inducible factor-2α paraganglioma-somatostatinoma-polycythemia syndrome Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma.Two functional loci in the promoter of EPAS1 gene involved in high-altitude adaptation of Tibetans.Progenitor cell line (hPheo1) derived from a human pheochromocytoma tumor Upregulation of hypoxia-inducible factors and autophagy in von Hippel-Lindau-associated retinal hemangioblastoma.Profiling of somatic mutations in phaeochromocytoma and paraganglioma by targeted next generation sequencing analysis.Pheochromocytoma and paraganglioma in cyanotic congenital heart disease.A clinical and genetic analysis of multiple primary cancer referrals to genetics services.Intermittent induction of HIF-1α produces lasting effects on malignant progression independent of its continued expression.Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma The genetic basis of pheochromocytoma and paraganglioma: implications for management Genetics of pheochromocytoma and paraganglioma syndromes: new advances and future treatment options Phospho-mTOR is not upregulated in metastatic SDHB paragangliomas A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma.HIF2A and IGF2 expression correlates in human neuroblastoma cells and normal immature sympathetic neuroblasts.Somatic mosaicism of EPAS1 mutations in the syndrome of paraganglioma and somatostatinoma associated with polycythemia.Genotype and tumor locus determine expression profile of pseudohypoxic pheochromocytomas and paragangliomas Molecular and therapeutic advances in the diagnosis and management of malignant pheochromocytomas and paragangliomas First report of bilateral pheochromocytoma in the clinical spectrum of HIF2A-related polycythemia-paraganglioma syndrome.HIF2A gain-of-function mutations detected in duodenal gangliocytic paraganglioma.Genotype-specific abnormalities in mitochondrial function associate with distinct profiles of energy metabolism and catecholamine content in pheochromocytoma and paraganglioma.Regulation of erythropoiesis by hypoxia-inducible factors Multiplicity of hormone-secreting tumors: common themes about cause, expression, and management.Role of hypoxia and HIF2α in development of the sympathoadrenal cell lineage and chromaffin cell tumors with distinct catecholamine phenotypic features.Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range.Application of Peptide Nucleic Acid-based Assays Toward Detection of Somatic Mosaicism New syndrome of paraganglioma and somatostatinoma associated with polycythemia

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Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia

http://www.wikidata.org/entity/Q24607557

description

2012 nî lūn-bûn

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2012 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2012 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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name

Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia

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Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia

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Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia

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type

label

Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia

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Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia

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Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia

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prefLabel

Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia

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Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia

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Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia

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The New England Journal of Medicine

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Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia

@en

P2093

Chunzhang Yang

http://www.w3.org/2001/XMLSchema#string

Electron Kebebew

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Felipe Lorenzo

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Josef T Prchal

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Maria Merino

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Tito Fojo

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Vera Popovic

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Zhengping Zhuang

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A conserved family of prolyl-4-hydroxylases that modify HIF

Hypoxia-inducible factor 1 is a basic-helix-loop-helix-PAS heterodimer regulated by cellular O2 tension

Biochemical purification and pharmacological inhibition of a mammalian prolyl hydroxylase acting on hypoxia-inducible factor.

A gain-of-function mutation in the HIF2A gene in familial erythrocytosis

HIF1α and HIF2α: sibling rivalry in hypoxic tumour growth and progression

Oxygen sensing by metazoans: the central role of the HIF hydroxylase pathway

Differential roles of hypoxia-inducible factor 1alpha (HIF-1alpha) and HIF-2alpha in hypoxic gene regulation

The impact of O2 availability on human cancer

The Warburg effect is genetically determined in inherited pheochromocytomas

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

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922-30

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scholarly article

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2087081

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10.1056/NEJMOA1205119

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P433

10

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367

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Constantine A Stratakis

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2012-09-06T00:00:00Z

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22931260

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3432945

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