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Page 1
Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants.
Taïeb D, Wanna GB, Ahmad M, Lussey-Lepoutre C, Perrier ND, Nölting S, Amar L, Timmers HJLM, Schwam ZG, Estrera AL, Lim M, Pollom EL, Vitzthum L, Bourdeau I, Casey RT, Castinetti F, Clifton-Bligh R, Corssmit EPM, de Krijger RR, Del Rivero J, Eisenhofer G, Ghayee HK, Gimenez-Roqueplo AP, Grossman A, Imperiale A, Jansen JC, Jha A, Kerstens MN, Kunst HPM, Liu JK, Maher ER, Marchioni D, Mercado-Asis LB, Mete O, Naruse M, Nilubol N, Pandit-Taskar N, Sebag F, Tanabe A, Widimsky J, Meuter L, Lenders JWM, Pacak K. Taïeb D, et al. Lancet Diabetes Endocrinol. 2023 May;11(5):345-361. doi: 10.1016/S2213-8587(23)00038-4. Epub 2023 Mar 31. Lancet Diabetes Endocrinol. 2023. PMID: 37011647 Free PMC article. Review.
Given the higher risk of tumour multifocality and bilaterality for phaeochromocytomas and paragangliomas (PPGLs) because of SDHD pathogenic variants than for their sporadic and other genotypic counterparts, the management of patients with SDHD PPGLs is clinically co …
Given the higher risk of tumour multifocality and bilaterality for phaeochromocytomas and paragangliomas (PPGLs) because of SDHD path …
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/SDHD …
BACKGROUND: Germline pathogenic variants in SDHB/SDHC/SDHD are the most frequent causes of inherited phaeochromocytomas/paraganglioma …
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. These susceptibility genes predispose to early forms (VHL, RET, …
More than half of the mutations occur in one of the SDHx genes (SDHA, SDHB, SDHC, SDHD, SDHAF2), which encode the different subunits …
Mutations of the SDHB and SDHD genes.
Pawlu C, Bausch B, Neumann HP. Pawlu C, et al. Fam Cancer. 2005;4(1):49-54. doi: 10.1007/s10689-004-4227-4. Fam Cancer. 2005. PMID: 15883710 Review.
The succinate dehydrogenase (SDH) is a mitochondrial enzyme complex with an important role in oxydative phosphorylation and intracellular oxygene sensing and signaling. Mutations in the SDHB (1p35-36) and SDHD subunits (11q23) give rise to the paraganglioma syndromes (PGL) …
The succinate dehydrogenase (SDH) is a mitochondrial enzyme complex with an important role in oxydative phosphorylation and intracellular ox …
SDHD gene mutation in Mexican population with carotid body tumor.
Enríquez-Vega ME, Muñoz-Paredes JG, Cossío-Zazueta A, Ontiveros-Carlos Y, Pacheco-Pittaluga E, Bizueto-Rosas H. Enríquez-Vega ME, et al. Cir Cir. 2019;86(1):33-37. doi: 10.24875/CIRUE.M18000005. Cir Cir. 2019. PMID: 30951038 English.
INTRODUCTION: Among the U.S. population, the p81L SDHD (11q23) gene mutation is present in 6-36% of patients with sporadic carotid body tumor (CBT), but in familial cases is high as 80%. ...CONCLUSIONS: The p81L mutation in the SDHD gene was found in the Mexican pop …
INTRODUCTION: Among the U.S. population, the p81L SDHD (11q23) gene mutation is present in 6-36% of patients with sporadic carotid bo …
SDHD Promoter Mutations Ablate GABP Transcription Factor Binding in Melanoma.
Zhang T, Xu M, Makowski MM, Lee C, Kovacs M, Fang J, Willems E, Trent JM, Hayward NK, Vermeulen M, Brown KM. Zhang T, et al. Cancer Res. 2017 Apr 1;77(7):1649-1661. doi: 10.1158/0008-5472.CAN-16-0919. Epub 2017 Jan 20. Cancer Res. 2017. PMID: 28108517 Free PMC article.
SDHD encodes subunit D of the succinate dehydrogenase complex, an integral membrane protein. ...Here, we found that expression of SDHD in melanoma correlated with the expression of multiple ETS transcription factors, particularly in SDHD promoter wild-type sa …
SDHD encodes subunit D of the succinate dehydrogenase complex, an integral membrane protein. ...Here, we found that expression of …
Hereditary Paraganglioma-Pheochromocytoma Syndromes.
Else T, Greenberg S, Fishbein L. Else T, et al. 2008 May 21 [updated 2023 Sep 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2008 May 21 [updated 2023 Sep 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301715 Free Books & Documents. Review.
Evaluation of relatives at risk: First-degree relatives of an individual with a hereditary PGL/PCC syndrome and a known MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, or TMEM127 pathogenic variant should be offered molecular genetic testing to clarify their genetic status to improve …
Evaluation of relatives at risk: First-degree relatives of an individual with a hereditary PGL/PCC syndrome and a known MAX, SDHA, SDHAF2, S …
The SDHD:p.H102R Variant Is Frequent in Russian Patients with Head and Neck Paragangliomas and Associated with Loss of 11p15.5 Region and Hypermethylation of H19-DMR.
Snezhkina A, Fedorova M, Kobelyatskaya A, Markova D, Lantsova M, Ikonnikova A, Emelyanova M, Kalinin D, Pudova E, Melnikova N, Dmitriev A, Krasnov G, Pavlov V, Kudryavtseva A. Snezhkina A, et al. Int J Mol Sci. 2022 Dec 30;24(1):628. doi: 10.3390/ijms24010628. Int J Mol Sci. 2022. PMID: 36614070 Free PMC article.
In this study, we analyzed an extended cohort of Russian patients with HNPGLs using whole-exome sequencing and found a highly frequent missense variant p.H102R in the SDHD gene. We determined this variant in 34% of the SDHD mutation carriers. ...The immunohistochemi …
In this study, we analyzed an extended cohort of Russian patients with HNPGLs using whole-exome sequencing and found a highly frequent misse …
Alterations of the SDHD gene locus in midgut carcinoids.
Lima J, Máximo V, Soares P, Sobrinho-Simões M. Lima J, et al. Genes Chromosomes Cancer. 2003 Apr;36(4):424. doi: 10.1002/gcc.10147. Genes Chromosomes Cancer. 2003. PMID: 12619155 Review. No abstract available.
1,019 results