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459 results

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Page 1
The role of the electron transport SDHC gene on lifespan and cancer.
Ishii N, Ishii T, Hartman PS. Ishii N, et al. Mitochondrion. 2007 Feb-Apr;7(1-2):24-8. doi: 10.1016/j.mito.2006.11.012. Epub 2006 Dec 3. Mitochondrion. 2007. PMID: 17321223 Review.
To further explore the role of oxidative stress from mitochondria on apoptosis and cancer, we established a transgenic cell line with a point mutation at the ubiquinone binding region in the SDHC gene. ...Furthermore, oxidative stress must cause mutations in DNA and …
To further explore the role of oxidative stress from mitochondria on apoptosis and cancer, we established a transgenic cell line with …
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 …
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
Andrews KA, Ascher DB, Pires DEV, Barnes DR, Vialard L, Casey RT, Bradshaw N, Adlard J, Aylwin S, Brennan P, Brewer C, Cole T, Cook JA, Davidson R, Donaldson A, Fryer A, Greenhalgh L, Hodgson SV, Irving R, Lalloo F, McConachie M, McConnell VPM, Morrison PJ, Murday V, Park SM, Simpson HL, Snape K, Stewart S, Tomkins SE, Wallis Y, Izatt L, Goudie D, Lindsay RS, Perry CG, Woodward ER, Antoniou AC, Maher ER. Andrews KA, et al. J Med Genet. 2018 Jun;55(6):384-394. doi: 10.1136/jmedgenet-2017-105127. Epub 2018 Jan 31. J Med Genet. 2018. PMID: 29386252 Free PMC article.
BACKGROUND: Germline pathogenic variants in SDHB/SDHC/SDHD are the most frequent causes of inherited phaeochromocytomas/paragangliomas. ...We estimate penetrance for symptomatic tumours and elucidate genotype-phenotype correlations in a large cohort of SDHB/SDHC/SDH …
BACKGROUND: Germline pathogenic variants in SDHB/SDHC/SDHD are the most frequent causes of inherited phaeochromocytomas/paraganglioma …
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG. Johnston JJ, et al. Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14. Am J Hum Genet. 2012. PMID: 22703879 Free PMC article.
We piloted secondary variant detection by analyzing exomes for mutations in cancer-susceptibility syndromes in subjects ascertained for atherosclerosis phenotypes. ...Seven participants, four of whom were of Ashkenazi Jewish descent and three of whom did not meet family-hi …
We piloted secondary variant detection by analyzing exomes for mutations in cancer-susceptibility syndromes in subjects ascertained f …
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.
Deregulation of metabolism and disruption of genome integrity are hallmarks of cancer(1). 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 …
Deregulation of metabolism and disruption of genome integrity are hallmarks of cancer(1). Increased levels of the metabolites 2-hydro …
The role of the electron transport gene SDHC on lifespan and cancer.
Ishii N, Ishii T, Hartman PS. Ishii N, et al. Exp Gerontol. 2006 Oct;41(10):952-6. doi: 10.1016/j.exger.2006.06.037. Epub 2006 Sep 7. Exp Gerontol. 2006. PMID: 16962276 Review.
Much attention has been focused on the hypothesis that oxidative damage contributes to cellular and organismal aging. A mev-1 mutation in the cytochrome b large subunit (SDHC) of complex II results in superoxide anion (O(2)(-)) overproduction and therefore leads to apoptos …
Much attention has been focused on the hypothesis that oxidative damage contributes to cellular and organismal aging. A mev-1 mutation in th …
Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma.
Muth A, Crona J, Gimm O, Elmgren A, Filipsson K, Stenmark Askmalm M, Sandstedt J, Tengvar M, Tham E. Muth A, et al. J Intern Med. 2019 Feb;285(2):187-204. doi: 10.1111/joim.12869. Epub 2019 Jan 15. J Intern Med. 2019. PMID: 30536464 Free article. Review.
At minimum, FH, NF1, RET, SDHB, SDHD and VHL should be tested. In addition, testing of MEN1, SDHA, SDHAF2, SDHC, TMEM127 and MAX is recommended. Healthy first-degree relatives (and second-degree relatives in the case of SDHD and SDHAF2 which are maternally imprinted) shoul …
At minimum, FH, NF1, RET, SDHB, SDHD and VHL should be tested. In addition, testing of MEN1, SDHA, SDHAF2, SDHC, TMEM127 and MAX is r …
No association of an SDHC gene polymorphism with gastric cancer.
Goto Y, Ando T, Naito M, Goto H, Hamajima N. Goto Y, et al. Asian Pac J Cancer Prev. 2006 Oct-Dec;7(4):525-8. Asian Pac J Cancer Prev. 2006. PMID: 17250422 Free article.
The subjects consisted of 454 health checkup examinees without a history of cancer and 202 gastric cancer patients. The SDHC polymorphism was not associated with H. pylori infection seropositivity, gastric atrophy, and cancer risk in this study. Althou …
The subjects consisted of 454 health checkup examinees without a history of cancer and 202 gastric cancer patients. The SDH …
SDHC phaeochromocytoma and paraganglioma: A UK-wide case series.
Williams ST, Chatzikyriakou P, Carroll PV, McGowan BM, Velusamy A, White G, Obholzer R, Akker S, Tufton N, Casey RT, Maher ER, Park SM, Porteous M, Dyer R, Tan T, Wernig F, Brady AF, Kosicka-Slawinska M, Whitelaw BC, Dorkins H, Lalloo F, Brennan P, Carlow J, Martin R, Mitchell AL, Harrison R, Hawkes L, Newell-Price J, Kelsall A, Igbokwe R, Adlard J, Schirwani S, Davidson R, Morrison PJ, Chung TT, Bowles C, Izatt L. Williams ST, et al. Clin Endocrinol (Oxf). 2022 Apr;96(4):499-512. doi: 10.1111/cen.14594. Epub 2021 Sep 24. Clin Endocrinol (Oxf). 2022. PMID: 34558728 Free article.
RESULTS: We report 91 SDHC cases, 46 probands and 45 non-probands. Fifty-one cases were disease-affected. ...Malignant disease was reported in 19.6% (9/46). Eight cases had non-PPGL SDHC-associated tumours, six gastrointestinal stromal tumours (GIST) and two renal c …
RESULTS: We report 91 SDHC cases, 46 probands and 45 non-probands. Fifty-one cases were disease-affected. ...Malignant disease was re …
459 results