A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma. - Wikidata - awgldk - TriplyDB

A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma.

A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma.

http://www.wikidata.org/entity/Q36605344

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The role of PHD2 mutations in the pathogenesis of erythrocytosis.Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.Genotype-specific differences in the tumor metabolite profile of pheochromocytoma and paraganglioma using untargeted and targeted metabolomics.Current views on cell metabolism in SDHx-related pheochromocytoma and paraganglioma 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 SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.Pheochromocytoma and paraganglioma: diagnosis, genetics, management, and treatment Vascular pattern analysis for the prediction of clinical behaviour in pheochromocytomas and paragangliomas.Genetics of pheochromocytoma and paraganglioma syndromes: new advances and future treatment options 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.Regulation of erythropoiesis by hypoxia-inducible factors Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia 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.New syndrome of paraganglioma and somatostatinoma associated with polycythemia Hypoxia-Inducible Factor 2α Mutation-Related Paragangliomas Classify as Discrete Pseudohypoxic Subcluster Hypoxia-inducible factor signaling in pheochromocytoma: turning the rudder in the right direction.The von Hippel-Lindau Chuvash mutation in mice alters cardiac substrate and high-energy phosphate metabolism.Familial pheochromocytomas and paragangliomas.Pheochromocytoma and paraganglioma syndromes: genetics and management update.Pathophysiology and diagnosis of disorders of the adrenal medulla: focus on pheochromocytoma.Recent insights on circulating catecholamines in hypertension.Precision medicine in pheochromocytoma and paraganglioma: current and future concepts.A Somatic HIF2α Mutation-Induced Multiple and Recurrent Pheochromocytoma/Paraganglioma with Polycythemia: Clinical Study with Literature Review.Emerging role of dopamine in neovascularization of pheochromocytoma and paraganglioma.Malignant Pheochromocytoma and Paraganglioma: 272 Patients over 55 Years.Somatic gain-of-function HIF2A mutations in sporadic central nervous system hemangioblastomas.Novel insights into the polycythemia-paraganglioma-somatostatinoma syndrome.Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.Genetic basis of congenital erythrocytosis: mutation update and online databases.In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas.Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).HIF2A germline-mutation-induced polycythemia in a patient with VHL-associated renal-cell carcinoma.Succinate dehydrogenase (SDH)-deficient neoplasia.Genetic mechanisms of human hypertension and their implications for blood pressure physiology.The adrenal medulla and extra-adrenal paraganglia: then and now.Characterization and metabolic synthetic lethal testing in a new model of SDH-loss familial pheochromocytoma and paraganglioma.

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P2860

A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma.

http://www.wikidata.org/entity/Q36605344

description

2012 nî lūn-bûn

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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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2012年论文

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2012年论文

@zh-cn

name

A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma.

@ast

A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma.

@en

type

label

A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma.

@ast

A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma.

@en

prefLabel

A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma.

@ast

A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma.

@en

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Journal of Molecular Medicine

P1476

A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma.

@en

P2093

Chunzhang Yang

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Felipe R Lorenzo

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Hariprasad Vankayalapati

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Josef T Prchal

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Mark Ng Tang Fui

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Mathis Grossmann

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Thanh Huynh

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Zhengping Zhuang

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P2860

Endothelial PAS domain protein 1 (EPAS1), a transcription factor selectively expressed in endothelial cells

General involvement of hypoxia-inducible factor 1 in transcriptional response to hypoxia

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

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

A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove

Hypoxia-inducible factors in physiology and medicine

Structural basis for PAS domain heterodimerization in the basic helix-loop-helix-PAS transcription factor hypoxia-inducible factor

Acute postnatal ablation of Hif-2alpha results in anemia

Hypoxia-inducible factor-1 deficiency results in dysregulated erythropoiesis signaling and iron homeostasis in mouse development

Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.

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507-512

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23090011

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