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International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers.
Amar L, Pacak K, Steichen O, Akker SA, Aylwin SJB, Baudin E, Buffet A, Burnichon N, Clifton-Bligh RJ, Dahia PLM, Fassnacht M, Grossman AB, Herman P, Hicks RJ, Januszewicz A, Jimenez C, Kunst HPM, Lewis D, Mannelli M, Naruse M, Robledo M, Taïeb D, Taylor DR, Timmers HJLM, Treglia G, Tufton N, Young WF, Lenders JWM, Gimenez-Roqueplo AP, Lussey-Lepoutre C. Amar L, et al. Nat Rev Endocrinol. 2021 Jul;17(7):435-444. doi: 10.1038/s41574-021-00492-3. Epub 2021 May 21. Nat Rev Endocrinol. 2021. PMID: 34021277 Free PMC article. Review.
Approximately 20% of patients diagnosed with a phaeochromocytoma or paraganglioma carry a germline mutation in one of the succinate dehydrogenase (SDHx) genes (SDHA, SDHB, SDHC and SDHD), which encode the four subunits of the SDH enzyme. ...
Approximately 20% of patients diagnosed with a phaeochromocytoma or paraganglioma carry a germline mutation in one of the succinate dehydrog …
An overview of 20 years of genetic studies in pheochromocytoma and paraganglioma.
Buffet A, Burnichon N, Favier J, Gimenez-Roqueplo AP. Buffet A, et al. Best Pract Res Clin Endocrinol Metab. 2020 Mar;34(2):101416. doi: 10.1016/j.beem.2020.101416. Epub 2020 Mar 10. Best Pract Res Clin Endocrinol Metab. 2020. PMID: 32295730 Review.
More than half of the mutations occur in one of the SDHx genes (SDHA, SDHB, SDHC, SDHD, SDHAF2), which encode the different subunits and assembly protein of a mitochondrial enzyme, succinate dehydrogenase. ...
More than half of the mutations occur in one of the SDHx genes (SDHA, SDHB, SDHC, SDHD, SDHAF2), which encode the different subunits …
Oncometabolites suppress DNA repair by disrupting local chromatin signalling.
Sulkowski PL, Oeck S, Dow J, Economos NG, Mirfakhraie L, Liu Y, Noronha K, Bao X, Li J, Shuch BM, King MC, Bindra RS, Glazer PM. Sulkowski PL, et al. Nature. 2020 Jun;582(7813):586-591. doi: 10.1038/s41586-020-2363-0. Epub 2020 Jun 3. Nature. 2020. PMID: 32494005 Free PMC article.
Increased levels of the metabolites 2-hydroxyglutarate, succinate and fumarate occur in human malignancies owing to somatic mutations in the isocitrate dehydrogenase-1 or -2 (IDH1 or IDH2) genes, or germline mutations in the fumarate hydratase (FH) and succinate dehydrogenase gen …
Increased levels of the metabolites 2-hydroxyglutarate, succinate and fumarate occur in human malignancies owing to somatic mutations in the …
SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update.
Schipani A, Nannini M, Astolfi A, Pantaleo MA. Schipani A, et al. Genes (Basel). 2023 Mar 4;14(3):646. doi: 10.3390/genes14030646. Genes (Basel). 2023. PMID: 36980917 Free PMC article. Review.
The remaining 50% of SDH-deficient GISTs have mutations in one of the SDH subunits and SDHA mutations are the most common (30%), with consequent loss of SDHA and SDHB protein expression immunohistochemically. ...SDHA-mutant patients usually carry two mutation …
The remaining 50% of SDH-deficient GISTs have mutations in one of the SDH subunits and SDHA mutations are the most common (30%), with …
Pituitary tumours: molecular and genetic aspects.
De Sousa SMC, Lenders NF, Lamb LS, Inder WJ, McCormack A. De Sousa SMC, et al. J Endocrinol. 2023 May 12;257(3):e220291. doi: 10.1530/JOE-22-0291. Print 2023 Jun 1. J Endocrinol. 2023. PMID: 36951812 Review.
This includes variants in established pituitary adenoma/hyperplasia predisposition genes (MEN1, PRKAR1A, AIP, CDKN1B, GPR101, SDHA, SDHB, SDHC, SDHD, SDHAF2) as well as emerging genetic associations. ...
This includes variants in established pituitary adenoma/hyperplasia predisposition genes (MEN1, PRKAR1A, AIP, CDKN1B, GPR101, SDHA, S …
New pathogenic germline variants identified in mesothelioma.
Belcaid L, Bertelsen B, Wadt K, Tuxen I, Spanggaard I, Højgaard M, Benn Sørensen J, Ravn J, Lassen U, Cilius Nielsen F, Rohrberg K, Westmose Yde C. Belcaid L, et al. Lung Cancer. 2023 May;179:107172. doi: 10.1016/j.lungcan.2023.03.008. Epub 2023 Mar 15. Lung Cancer. 2023. PMID: 36944283 Free article. Review.
RESULTS: In total, 16 patients (36%) were found to carry pathogenic or likely pathogenic variants in 13 cancer associated genes (ATM, BAP1, BRCA2, CDKN2A, FANCA, FANCC, FANCD2, FANCM, MUTYH, NBN, RAD51B, SDHA and XPC). The germline PVs occurred in DNA repair pathways, incl …
RESULTS: In total, 16 patients (36%) were found to carry pathogenic or likely pathogenic variants in 13 cancer associated genes (ATM, BAP1, …
Whole blood ACTB, B2M and GAPDH expression reflects activity of inflammatory bowel disease, advancement of colorectal cancer, and correlates with circulating inflammatory and angiogenic factors: Relevance for real-time quantitative PCR.
Bednarz-Misa I, Neubauer K, Zacharska E, Kapturkiewicz B, Krzystek-Korpacka M. Bednarz-Misa I, et al. Adv Clin Exp Med. 2020 May;29(5):547-556. doi: 10.17219/acem/118845. Adv Clin Exp Med. 2020. PMID: 32424999 Free article.
OBJECTIVES: To evaluate the effect of colorectal cancer (CRC) and active inflammatory bowel disease (IBD) on the stability of ACTB, B2M, GAPDH, HPRT1, SDHA, and TBP leukocyte expression. MATERIAL AND METHODS: Gene expression in controls and CRC and IBD patients (n = 21/18/ …
OBJECTIVES: To evaluate the effect of colorectal cancer (CRC) and active inflammatory bowel disease (IBD) on the stability of ACTB, B2M, GAP …
UK recommendations for SDHA germline genetic testing and surveillance in clinical practice.
Hanson H, Durkie M, Lalloo F, Izatt L, McVeigh TP, Cook JA, Brewer C, Drummond J, Butler S, Cranston T, Casey R, Tan T, Morganstein D, Eccles DM, Tischkowitz M, Turnbull C, Woodward ER, Maher ER; UK Cancer Genetics Centres. Hanson H, et al. J Med Genet. 2023 Feb;60(2):107-111. doi: 10.1136/jmedgenet-2021-108355. Epub 2022 Mar 8. J Med Genet. 2023. PMID: 35260474 Free PMC article.
Studies of SDHA PGV carriers suggest that lifetime penetrance for SDHA-associated tumours is low, particularly when identified outside the context of a family history. Current recommended surveillance for SDHA PGV carriers follows an intensive protocol. With …
Studies of SDHA PGV carriers suggest that lifetime penetrance for SDHA-associated tumours is low, particularly when identified …
Head and Neck Paragangliomas-A Genetic Overview.
Majewska A, Budny B, Ziemnicka K, Ruchała M, Wierzbicka M. Majewska A, et al. Int J Mol Sci. 2020 Oct 16;21(20):7669. doi: 10.3390/ijms21207669. Int J Mol Sci. 2020. PMID: 33081307 Free PMC article. Review.
We found that the etiology of the tumors in question is based on genetic changes in the form of either germinal or somatic mutations. 40% of PCC and PGL have a predisposing germline mutation (including VHL, SDHB, SDHD, RET, NF1, THEM127, MAX, SDHC, SDHA, SDHAF2, HIF2A, HRA …
We found that the etiology of the tumors in question is based on genetic changes in the form of either germinal or somatic mutations. 40% of …
Structure of the human respiratory complex II.
Du Z, Zhou X, Lai Y, Xu J, Zhang Y, Zhou S, Feng Z, Yu L, Tang Y, Wang W, Yu L, Tian C, Ran T, Chen H, Guddat LW, Liu F, Gao Y, Rao Z, Gong H. Du Z, et al. Proc Natl Acad Sci U S A. 2023 May 2;120(18):e2216713120. doi: 10.1073/pnas.2216713120. Epub 2023 Apr 25. Proc Natl Acad Sci U S A. 2023. PMID: 37098072 Free PMC article.
Here, we have determined the structure of human complex II in the presence of ubiquinone at 2.86 A resolution by cryoelectron microscopy, showing it comprises two water-soluble subunits, SDHA and SDHB, and two membrane-spanning subunits, SDHC and SDHD. ...
Here, we have determined the structure of human complex II in the presence of ubiquinone at 2.86 A resolution by cryoelectron microscopy, sh …
97 results