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1,809 results

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Page 1
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Garrett A, Loveday C, King L, Butler S, Robinson R, Horton C, Yussuf A, Choi S, Torr B, Durkie M, Burghel GJ, Drummond J, Berry I, Wallace A, Callaway A, Eccles D, Tischkowitz M, Tatton-Brown K, Snape K, McVeigh T, Izatt L, Woodward ER, Burnichon N, Gimenez-Roqueplo AP, Mazzarotto F, Whiffin N, Ware J, Hanson H, Pesaran T, LaDuca H, Buffet A, Maher ER, Turnbull C; Cancer Variant Interpretation Group UK (CanVIG-UK). Garrett A, et al. Genet Med. 2022 Jan;24(1):41-50. doi: 10.1016/j.gim.2021.08.004. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906457 Free PMC article.
RESULTS: We estimated the pan-gene VRMV-LR to be 76.2 (54.8-105.9) for SDHB and 14.8 (8.7-25.0) for SDHD. Clustering analysis revealed an SDHB enriched region ( 177-260, P = .001) for which the DS-VRMV-LR was 127.2 (64.9-249.4) and an SDHD enriched region ( 70-114, …
RESULTS: We estimated the pan-gene VRMV-LR to be 76.2 (54.8-105.9) for SDHB and 14.8 (8.7-25.0) for SDHD. Clustering analysis reveale …
Outcomes of SDHB Pathogenic Variant Carriers.
Davidoff DF, De Abreu Lourenco R, Tsang VHM, Benn DE, Clifton-Bligh RJ. Davidoff DF, et al. J Clin Endocrinol Metab. 2024 Aug 13;109(9):2400-2410. doi: 10.1210/clinem/dgae233. J Clin Endocrinol Metab. 2024. PMID: 38605204 Free PMC article.
CONTEXT: Carriers of germline pathogenic variants (PVs) in succinate dehydrogenase type B (SDHB) are at increased risk of developing pheochromocytomas and paragangliomas (PPGLs). ...RESULTS: Penetrance of PPGLs for nonproband/nonindex SDHB PV carriers by age 20 was …
CONTEXT: Carriers of germline pathogenic variants (PVs) in succinate dehydrogenase type B (SDHB) are at increased risk of developing …
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. ...Risk of malignant disease at age 60 years in non-proband SDHB mutation carriers was 4.2%(95% CI 1.1% to 7.2%). With retrospecti …
BACKGROUND: Germline pathogenic variants in SDHB/SDHC/SDHD are the most frequent causes of inherited phaeochromocytomas/paraganglioma …
Research progress on the pathogenesis of the SDHB mutation and related diseases.
Liu C, Zhou D, Yang K, Xu N, Peng J, Zhu Z. Liu C, et al. Biomed Pharmacother. 2023 Nov;167:115500. doi: 10.1016/j.biopha.2023.115500. Epub 2023 Sep 19. Biomed Pharmacother. 2023. PMID: 37734265 Free article. Review.
This paper reviews the relationship between SDHB mutations and related cancers, discusses the molecular mechanism of SDHB mutations that may lead to tumor formation, analyzes the mutation spectrum, structural domains, and penetrance of SDHB and sorts out some …
This paper reviews the relationship between SDHB mutations and related cancers, discusses the molecular mechanism of SDHB muta …
SDHB-Associated Pheochromocytomas: What is Their Clinical Behavior?
Szabo Yamashita T, Tame-Elorduy A, Skefos CM, Varghese JM, Habra MA, Fisher SB, Graham PH, Grubbs EG, Waguespack SG, Jimenez C, Perrier ND. Szabo Yamashita T, et al. Ann Surg Oncol. 2024 Dec;31(13):9007-9013. doi: 10.1245/s10434-024-16120-z. Epub 2024 Oct 9. Ann Surg Oncol. 2024. PMID: 39382746
INTRODUCTION: Germline pathogenic variants in succinate dehydrogenase subunit B (SDHB) cause paraganglioma/pheochromocytoma syndrome type 4 (PGL-4). SDHB-associated pheochromocytomas (PCC) are thought to be rare and little data exist about their clinical behavior. . …
INTRODUCTION: Germline pathogenic variants in succinate dehydrogenase subunit B (SDHB) cause paraganglioma/pheochromocytoma syndrome …
SDHB immunohistochemistry for prognosis of pheochromocytoma and paraganglioma: A retrospective and prospective analysis.
Su T, Yang Y, Jiang L, Xie J, Zhong X, Wu L, Jiang Y, Zhang C, Zhou W, Ye L, Ning G, Wang W. Su T, et al. Front Endocrinol (Lausanne). 2023 Mar 16;14:1121397. doi: 10.3389/fendo.2023.1121397. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37008946 Free PMC article.
INTRODUCTION: Pheochromocytomas and paragangliomas (PCC/PGL) are rare neuroendocrine tumors and can secrete catecholamine. Previous studies have found that SDHB immunohistochemistry (IHC) can predict SDHB germline gene mutation, and SDHB mutation is closely a …
INTRODUCTION: Pheochromocytomas and paragangliomas (PCC/PGL) are rare neuroendocrine tumors and can secrete catecholamine. Previous studies …
SDHB variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma.
Bayley JP, Bausch B, Jansen JC, Hensen EF, van der Tuin K, Corssmit EP, Devilee P, Neumann HP. Bayley JP, et al. J Med Genet. 2023 Jan;60(1):25-32. doi: 10.1136/jmedgenet-2020-107656. Epub 2021 Nov 8. J Med Genet. 2023. PMID: 34750193
In the present study we zoom in on the genotype-phenotype associations of SDHB gene variants, considering the impact of individual gene variants on disease risk and risk of malignancy. ...RESULTS: Compared with missense variants, truncating SDHB variants were signif …
In the present study we zoom in on the genotype-phenotype associations of SDHB gene variants, considering the impact of individual ge …
SDHB reduction promotes oral lichen planus by impairing mitochondrial respiratory function.
Zhang H, Xu B, Liu J, Guo B, Sun H, Yang Q. Zhang H, et al. Ann Transl Med. 2022 Dec;10(24):1367. doi: 10.21037/atm-22-5999. Ann Transl Med. 2022. PMID: 36660661 Free PMC article.
Accumulating evidence indicates that the expression of succinate dehydrogenase enzyme B (SDHB) is associated with the carcinogenesis of oral squamous cell carcinoma (OSCC). However, the function and underlying mechanism of SDHB in OLP remains unknown. ...CONCLUSIONS …
Accumulating evidence indicates that the expression of succinate dehydrogenase enzyme B (SDHB) is associated with the carcinogenesis …
Loss of SDHB Promotes Dysregulated Iron Homeostasis, Oxidative Stress, and Sensitivity to Ascorbate.
Goncalves J, Moog S, Morin A, Gentric G, Müller S, Morrell AP, Kluckova K, Stewart TJ, Andoniadou CL, Lussey-Lepoutre C, Bénit P, Thakker A, Vettore L, Roberts J, Rodriguez R, Mechta-Grigoriou F, Gimenez-Roqueplo AP, Letouzé E, Tennant DA, Favier J. Goncalves J, et al. Cancer Res. 2021 Jul 1;81(13):3480-3494. doi: 10.1158/0008-5472.CAN-20-2936. Epub 2021 Jun 14. Cancer Res. 2021. PMID: 34127497 Free PMC article.
All four subunits of succinate dehydrogenase are tumor suppressor genes predisposing to paraganglioma, but only mutations in the SDHB subunit are associated with increased risk of metastasis. Here we generated an Sdhd knockout chromaffin cell line and compared it with S …
All four subunits of succinate dehydrogenase are tumor suppressor genes predisposing to paraganglioma, but only mutations in the SDHB …
SDHB Suppresses the Tumorigenesis and Development of ccRCC by Inhibiting Glycolysis.
Fang Z, Sun Q, Yang H, Zheng J. Fang Z, et al. Front Oncol. 2021 May 19;11:639408. doi: 10.3389/fonc.2021.639408. eCollection 2021. Front Oncol. 2021. PMID: 34094922 Free PMC article.
Increased methylation levels in SDHB gene promoter led to the downregulation of SDHB level in ccRCC tissues. SDHB was correlated with many metabolism related genes and its interacting proteins were enriched in metabolic pathways. ...SDHB may be a poten …
Increased methylation levels in SDHB gene promoter led to the downregulation of SDHB level in ccRCC tissues. SDHB was c …
1,809 results