Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene. - Wikidata - wikimedia - TriplyDB

Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.

Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.

http://www.wikidata.org/entity/Q34466932

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Succinate Dehydrogenase Loss in Familial Paraganglioma: Biochemistry, Genetics, and Epigenetics Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy Molecular markers of paragangliomas/pheochromocytomas Mitochondrial Deficiencies in the Predisposition to Paraganglioma Magnetic resonance spectroscopy of paragangliomas: new insights into in vivo metabolomics Deciphering the molecular basis of invasiveness in Sdhb-deficient cells.HRAS mutation prevalence and associated expression patterns in pheochromocytoma.Global DNA Methylation Analysis Identifies Two Discrete clusters of Pheochromocytoma with Distinct Genomic and Genetic Alterations.Rethinking pheochromocytomas and paragangliomas from a genomic perspective.Metastatic pheochromocytoma and paraganglioma.An epigenetic gateway to brain tumor cell identity.PheoSeq: A Targeted Next-Generation Sequencing Assay for Pheochromocytoma and Paraganglioma Diagnostics.The Penetrance of Paraganglioma and Pheochromocytoma in SDHB germline mutation carriers.Precision medicine in pheochromocytoma and paraganglioma: current and future concepts.Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas.The Rise and Rise of Exome Sequencing.Characterization of the Role of the Malate Dehydrogenases to Lung Tumor Cell Survival.Pheochromocytoma: The First Metabolic Endocrine Cancer.Identification and validation of potential prognostic gene biomarkers for predicting survival in patients with acute myeloid leukemia.Succinate dehydrogenase (SDH)-deficient neoplasia.The clinical genetics of phaeochromocytoma and paraganglioma.New Perspectives on Pheochromocytoma and Paraganglioma: Toward a Molecular Classification.Activating FGFR1 Mutations in Sporadic Pheochromocytomas.Metabologenomics of Phaeochromocytoma and Paraganglioma: An Integrated Approach for Personalised Biochemical and Genetic Testing.Metabolic implications of hypoxia and pseudohypoxia in pheochromocytoma and paraganglioma.New Insights into the Nuclear Imaging Phenotypes of Cluster 1 Pheochromocytoma and Paraganglioma.Mathematical modeling of disease dynamics in SDHB- and SDHD-related paraganglioma: Further step in understanding hereditary tumor differences and future therapeutic strategies New insights on the pathogenesis of paraganglioma and pheochromocytoma

P2860

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P2860

Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.

http://www.wikidata.org/entity/Q34466932

description

2015 nî lūn-bûn

@nan

2015 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

2015 թվականի մարտին հրատարակված գիտական հոդված

@hy

2015年の論文

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2015年論文

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2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

name

Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.

@ast

Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.

@en

Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.

@nl

type

label

Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.

@ast

Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.

@en

Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.

@nl

prefLabel

Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.

@ast

Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.

@en

Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.

@nl

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P1433

Journal of the National Cancer Institute

P1476

Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene

@en

P2093

Aguirre A de Cubas

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Ana Río-Machín

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Andrés Pérez-Barrios

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Fernando Setién

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

Graeme Eisenhofer

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Juan F Garcia

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María Apellániz-Ruiz

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María Calatayud

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

María Currás-Freixes

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

Miguel Urioste

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

P2860

SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma

Oncometabolite 2-hydroxyglutarate is a competitive inhibitor of α-ketoglutarate-dependent dioxygenases

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

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

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

SDHA is a tumor suppressor gene causing paraganglioma.

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.

Med24 and Mdh2 are required for Drosophila larval salivary gland cell death.

Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase.

Inhibition of α-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors

P31

scholarly article

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10.1093/JNCI/DJV053

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P433

5

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107

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Mercedes Robledo

Laura Contreras

Sebastian Moran

Cristina Rodríguez-Antona

Giovanna Roncador

Alberto Cascón

L Inglada-Pérez

IÑAKI COMINO-MENDEZ

P577

2015-03-11T00:00:00Z

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P698

25766404

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