Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes
about
Sequencing and analysis of a South Asian-Indian personal genomeA clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probandsGenetic basis of Cowden syndrome and its implications for clinical practice and risk managementCutaneous manifestation of gastrointestinal diseasePhysiological consequences of complex II inhibition for aging, disease, and the mKATP channelGermline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid CancerSuccinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancerEndometrial 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 paragangliomaElevated 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 treatmentDefects 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 cancerCowden 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 studyScreening 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 syndromesPituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and miceIncidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterationsGermline 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 cancersOver-representation of the G12S polymorphism of the SDHD gene in patients with MEN2A syndromePapillary renal cell carcinoma is associated with PTEN hamartoma tumor syndromePTEN 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.
P2860
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P2860
Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes
description
2008 nî lūn-bûn
@nan
2008 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Germline mutations and variant ...... wden and Cowden-like syndromes
@ast
Germline mutations and variant ...... wden and Cowden-like syndromes
@en
Germline mutations and variant ...... wden and Cowden-like syndromes
@nl
type
label
Germline mutations and variant ...... wden and Cowden-like syndromes
@ast
Germline mutations and variant ...... wden and Cowden-like syndromes
@en
Germline mutations and variant ...... wden and Cowden-like syndromes
@nl
prefLabel
Germline mutations and variant ...... wden and Cowden-like syndromes
@ast
Germline mutations and variant ...... wden and Cowden-like syndromes
@en
Germline mutations and variant ...... wden and Cowden-like syndromes
@nl
P2093
P2860
P3181
P1476
Germline mutations and variant ...... wden and Cowden-like syndromes
@en
P2093
Attila Patocs
Emily Edelman
Glenn Lobo
Kevin M Zbuk
Kristin A Waite
Mohammed S Orloff
Petra Platzer
Tammy Sadler
P2860
P304
P3181
P356
10.1016/J.AJHG.2008.07.011
P407
P50
P577
2008-08-01T00:00:00Z