The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway - Wikidata - wikimedia - TriplyDB

The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway

The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway

http://www.wikidata.org/entity/Q28361936

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Pheochromocytomas and secreting paragangliomas The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency miR-210 is overexpressed in late stages of lung cancer and mediates mitochondrial alterations associated with modulation of HIF-1 activity Cell-permeating alpha-ketoglutarate derivatives alleviate pseudohypoxia in succinate dehydrogenase-deficient cells No evidence for involvement of SDHD in neuroblastoma pathogenesis A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas Succinate Dehydrogenase Loss in Familial Paraganglioma: Biochemistry, Genetics, and Epigenetics 15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5 Mitochondrial ROS in cancer: initiators, amplifiers or an Achilles' heel?Tumors of the neural crest: Common themes in development and cancer Physiological consequences of complex II inhibition for aging, disease, and the mKATP channel Changing perspective on oncometabolites: from metabolic signature of cancer to tumorigenic and immunosuppressive agents The genetics of paragangliomas: a review The mitochondrial SDHD gene is required for early embryogenesis, and its partial deficiency results in persistent carotid body glomus cell activation with full responsiveness to hypoxia Warburg effect's manifestation in aggressive pheochromocytomas and paragangliomas: insights from a mouse cell model applied to human tumor tissue.Similar gene expression profiles of sporadic, PGL2-, and SDHD-linked paragangliomas suggest a common pathway to tumorigenesis.Role of VEGF-A and its receptors in sporadic and MEN2-associated pheochromocytoma Current views on cell metabolism in SDHx-related pheochromocytoma and paraganglioma Succinate is an inflammatory signal that induces IL-1β through HIF-1α.Mitochondrial Deficiencies in the Predisposition to Paraganglioma SDHD promoter mutations are rare events in cutaneous melanomas but SDHD protein expression is downregulated in advanced cutaneous melanoma Inhibition of hypoxia-inducible factor (HIF) hydroxylases by citric acid cycle intermediates: possible links between cell metabolism and stabilization of HIF.SDH-related pheochromocytoma and paraganglioma.Oncometabolites: linking altered metabolism with cancer.Atpenins, potent and specific inhibitors of mitochondrial complex II (succinate-ubiquinone oxidoreductase).Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.Involvement of mitochondrial complex II defects in neuronal death produced by N-terminus fragment of mutated huntingtin Succinate dehydrogenase-deficient gastrointestinal stromal tumors.Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation.Succinate dehydrogenase and human diseases: new insights into a well-known enzyme.Succinate dehydrogenase subunit B inhibits the AMPK-HIF-1α pathway in human ovarian cancer in vitro Hereditary paraganglioma targets diverse paraganglia.The redox basis of epigenetic modifications: from mechanisms to functional consequences.SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes Succinate dehydrogenase-deficient GISTs: a clinicopathologic, immunohistochemical, and molecular genetic study of 66 gastric GISTs with predilection to young age Oxygen sensing in cancer.Oxygen concentration controls epigenetic effects in models of familial paraganglioma.K40E: a novel succinate dehydrogenase (SDH)B mutation causing familial phaeochromocytoma and paraganglioma.Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency.Activation of HIF-1α (hypoxia inducible factor-1α) prevents dry eye-induced acinar cell death in the lacrimal gland

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P2860

The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway

http://www.wikidata.org/entity/Q28361936

description

2001 nî lūn-bûn

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2001 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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2001 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2001年の論文

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2001年論文

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2001年論文

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The R22X mutation of the SDHD ...... activates the hypoxia pathway

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The R22X mutation of the SDHD ...... activates the hypoxia pathway

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The R22X mutation of the SDHD ...... activates the hypoxia pathway

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The R22X mutation of the SDHD ...... activates the hypoxia pathway

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The R22X mutation of the SDHD ...... activates the hypoxia pathway

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The R22X mutation of the SDHD ...... activates the hypoxia pathway

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The R22X mutation of the SDHD ...... activates the hypoxia pathway

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The R22X mutation of the SDHD ...... activates the hypoxia pathway

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The R22X mutation of the SDHD ...... activates the hypoxia pathway

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The R22X mutation of the SDHD ...... activates the hypoxia pathway

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Corvol P

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Jeunemaitre X

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Mourad JJ

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P2860

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

A high-resolution integrated map spanning the SDHD gene at 11q23: a 1.1-Mb BAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumour-suppressor region

Alterations of the PPP2R1B gene in human lung and colon cancer

Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma

Kinetic PCR Analysis: Real-time Monitoring of DNA Amplification Reactions

Mitochondrial reactive oxygen species trigger hypoxia-induced transcription

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma

Oxidative phosphorylation at the fin de siècle.

Chromosomes, 11Q and cancer: a review.

First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumours (paragangliomas)

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10.1086/324413

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