Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes - Test2 - elhamkhani - TriplyDB

Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes

Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes

http://www.wikidata.org/entity/Q24649528

about

Sequencing and analysis of a South Asian-Indian personal genome A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands Genetic basis of Cowden syndrome and its implications for clinical practice and risk management Cutaneous manifestation of gastrointestinal disease Physiological consequences of complex II inhibition for aging, disease, and the mKATP channel Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer Endometrial cancer gene panels: clinical diagnostic vs research germline DNA testing.Cowden syndrome-associated germline succinate dehydrogenase complex subunit D (SDHD) variants cause PTEN-mediated down-regulation of autophagy in thyroid cancer cells.Current views on cell metabolism in SDHx-related pheochromocytoma and paraganglioma Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.Anti-cancer potential of MAPK pathway inhibition in paragangliomas-effect of different statins on mouse pheochromocytoma cells.Urological cancer related to familial syndromes.Clinical management of hereditary breast cancer syndromes.Pheochromocytoma and paraganglioma: diagnosis, genetics, management, and treatment Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.Succinate dehydrogenase (SDH)-deficient renal carcinoma: a morphologically distinct entity: a clinicopathologic series of 36 tumors from 27 patients.Elevation of methylated DNA in KILLIN/PTEN in the plasma of patients with thyroid and/or breast cancer Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation.PTEN hamartoma tumor syndrome: an overview.Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancer.Germline PTEN, SDHB-D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden-like syndromes: an international, multicenter, prospective study Screening for germline phosphatase and tensin homolog-mutations in suspected Cowden syndrome and Cowden syndrome-like families among uterine cancer patients.SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53.Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH?Germline PARP4 mutations in patients with primary thyroid and breast cancers Over-representation of the G12S polymorphism of the SDHD gene in patients with MEN2A syndrome Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome PTEN hamartoma of soft tissue: a distinctive lesion in PTEN syndromes.Pyruvate carboxylation enables growth of SDH-deficient cells by supporting aspartate biosynthesis.Vitamin E protects against lipid peroxidation and rescues tumorigenic phenotypes in cowden/cowden-like patient-derived lymphoblast cells with germline SDHx variants.A novel germline mutation in SDHA identified in a rare case of gastrointestinal stromal tumor complicated with renal cell carcinoma.Counseling patients with succinate dehydrogenase subunit defects: genetics, preventive guidelines, and dealing with uncertainty.Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome.Succinate dehydrogenase (SDHx) mutations in pituitary tumors: could this be a new role for mitochondrial complex II and/or Krebs cycle defects?Succinate dehydrogenase expression in breast cancer.Familiar Papillary Thyroid Carcinoma in a Large Brazilian Family Is Not Associated with Succinate Dehydrogenase Defects.

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P2860

Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes

http://www.wikidata.org/entity/Q24649528

description

2008 nî lūn-bûn

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2008 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

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2008 թվականի օգոստոսին հրատարակված գիտական հոդված

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2008年の論文

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2008年論文

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2008年论文

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Germline mutations and variant ...... wden and Cowden-like syndromes

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Germline mutations and variant ...... wden and Cowden-like syndromes

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Germline mutations and variant ...... wden and Cowden-like syndromes

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Germline mutations and variant ...... wden and Cowden-like syndromes

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Germline mutations and variant ...... wden and Cowden-like syndromes

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American Journal of Human Genetics

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Attila Patocs

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Emily Edelman

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Glenn Lobo

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Kevin M Zbuk

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Kristin A Waite

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Mohammed S Orloff

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Petra Platzer

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Tammy Sadler

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Ying Ni

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P2860

Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway

Loss of PTEN facilitates HIF-1-mediated gene expression

Altered PTEN expression as a diagnostic marker for the earliest endometrial precancers

PTEN: one gene, many syndromes

A role for mitochondrial enzymes in inherited neoplasia and beyond

Cancer phenomics: RET and PTEN as illustrative models

Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-alpha prolyl hydroxylase

Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN

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

Reversible inactivation of the tumor suppressor PTEN by H2O2

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261-268

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