Succinate Dehydrogenase Deficient Renal Cell Carcinoma With Sarcomatoid and Rhabdoid Features-A Diagnostic Dilemma. | Succinate Dehydrogenase Deficient Renal Cell Carcinoma With Sarcomatoid and Rhabdoid Features-A Diagnostic Dilemma. Ajmal N, Lallas CD, McCue P, Li L. | 10/30/2024 |
Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement. | Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement. Taïeb D, Nölting S, Perrier ND, Fassnacht M, Carrasquillo JA, Grossman AB, Clifton-Bligh R, Wanna GB, Schwam ZG, Amar L, Bourdeau I, Casey RT, Crona J, Deal CL, Del Rivero J, Duh QY, Eisenhofer G, Fojo T, Ghayee HK, Gimenez-Roqueplo AP, Gill AJ, Hicks R, Imperiale A, Jha A, Kerstens MN, de Krijger RR, Lacroix A, Lazurova I, Lin FI, Lussey-Lepoutre C, Maher ER, Mete O, Naruse M, Nilubol N, Robledo M, Sebag F, Shah NS, Tanabe A, Thompson GB, Timmers HJLM, Widimsky J, Young WJ Jr, Meuter L, Lenders JWM, Pacak K. | 02/22/2024 |
High rates of the SDHB p.Arg46Gln pathogenic variant predisposes New Zealand Maori to phaeochromocytoma/paraganglioma. | High rates of the SDHB p.Arg46Gln pathogenic variant predisposes New Zealand Māori to phaeochromocytoma/paraganglioma. Shand JAD, van Schalkwyk J, Beavis V, Niyagama A, Taylor S, Eagleton C. | 10/23/2023 |
Evidence for a Founder Effect of SDHB Exon 1 Deletion in Brazilian Patients With Paraganglioma. | Evidence for a Founder Effect of SDHB Exon 1 Deletion in Brazilian Patients With Paraganglioma. Fagundes GFC, Freitas-Castro F, Santana LS, Afonso ACF, Petenuci J, Funari MFA, Guimaraes AG, Ledesma FL, Pereira MAA, Victor CR, Ferrari MSM, Coelho FMA, Srougi V, Tanno FY, Chambo JL, Latronico AC, Mendonca BB, Fragoso MCBV, Hoff AO, Almeida MQ. | 07/20/2023 |
Distortion in transmission of pathogenic SDHB- and SDHD-mutated alleles from parent to offspring. | Distortion in transmission of pathogenic SDHB- and SDHD-mutated alleles from parent to offspring. Davidoff DF, Lim ES, Benn DE, Subramaniam Y, Dorman E, Burgess JR, Akker SA, Clifton-Bligh RJ. | 04/12/2023 |
Metabolic Characterization and Glyceraldehyde-3-Phosphate Dehydrogenase-Dependent Regulation of Epithelial Sodium Channels in hPheo1 Wild-type and SDHB Knockdown Cells. | Metabolic Characterization and Glyceraldehyde-3-Phosphate Dehydrogenase-Dependent Regulation of Epithelial Sodium Channels in hPheo1 Wild-type and SDHB Knockdown Cells. Bala N, Yu L, Liu LP, Shelton L, Xu Y, Ghayee HK, Alli AA. | 02/28/2023 |
SDHB variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma. | 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. | 01/7/2023 |
Gastrointestinal stromal tumors caused by novel germline variants in SDHB and KIT: a report of two cases and literature review. | Gastrointestinal stromal tumors caused by novel germline variants in SDHB and KIT: a report of two cases and literature review. Rasmussen S, Stueck A, Colwell B, Gaston D, Carter M. | 10/29/2022 |
Succinate: A Serum Biomarker of SDHB-Mutated Paragangliomas and Pheochromocytomas. | Succinate: A Serum Biomarker of SDHB-Mutated Paragangliomas and Pheochromocytomas. Lamy C, Tissot H, Faron M, Baudin E, Lamartina L, Pradon C, Al Ghuzlan A, Leboulleux S, Perfettini JL, Paci A, Hadoux J, Broutin S. | 10/8/2022 |
LncRNA expression and SDHB mutations in pheochromocytomas and paragangliomas. | LncRNA expression and SDHB mutations in pheochromocytomas and paragangliomas. Li H, Hardin H, Zaeem M, Huang W, Hu R, Lloyd RV. | 05/21/2022 |
Increased expression of Nrf2 and elevated glucose uptake in pheochromocytoma and paraganglioma with SDHB gene mutation. | Increased expression of Nrf2 and elevated glucose uptake in pheochromocytoma and paraganglioma with SDHB gene mutation. Kamai T, Murakami S, Arai K, Nishihara D, Uematsu T, Ishida K, Kijima T., Free PMC Article | 03/26/2022 |
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD. | 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)., Free PMC Article | 03/26/2022 |
CAMKK2 regulates mitochondrial function by controlling succinate dehydrogenase expression, post-translational modification, megacomplex assembly, and activity in a cell-type-specific manner. | CAMKK2 regulates mitochondrial function by controlling succinate dehydrogenase expression, post-translational modification, megacomplex assembly, and activity in a cell-type-specific manner. Sabbir MG, Taylor CG, Zahradka P., Free PMC Article | 02/26/2022 |
Loss of SDHB Induces a Metabolic Switch in the hPheo1 Cell Line toward Enhanced OXPHOS. | Loss of SDHB Induces a Metabolic Switch in the hPheo1 Cell Line toward Enhanced OXPHOS. Tabebi M, Kumar Dutta R, Skoglund C, Söderkvist P, Gimm O., Free PMC Article | 02/5/2022 |
Functional succinate dehydrogenase deficiency is a common adverse feature of clear cell renal cancer. | Functional succinate dehydrogenase deficiency is a common adverse feature of clear cell renal cancer. Aggarwal RK, Luchtel RA, Machha V, Tischer A, Zou Y, Pradhan K, Ashai N, Ramachandra N, Albanese JM, Yang JI, Wang X, Aluri S, Gordon S, Aboumohamed A, Gartrell BA, Hafizi S, Pullman J, Shenoy N., Free PMC Article | 10/9/2021 |
MITOCHONDRIA: Succinate dehydrogenase subunit B-associated phaeochromocytoma and paraganglioma. | MITOCHONDRIA: Succinate dehydrogenase subunit B-associated phaeochromocytoma and paraganglioma. Dona M, Neijman K, Timmers HJLM. | 10/2/2021 |
One genotype, many phenotypes: SDHB p.R90X mutation-associated paragangliomas. | One genotype, many phenotypes: SDHB p.R90X mutation-associated paragangliomas. Alzahrani AS, Alswailem M, Moria Y, Aldeheshi A, Al-Hindi H. | 08/14/2021 |
Differences in Clinical Manifestations and Tumor Features Between Metastatic Pheochromocytoma/Paraganglioma Patients With and Without Germline SDHB Mutation. | Differences in Clinical Manifestations and Tumor Features Between Metastatic Pheochromocytoma/Paraganglioma Patients With and Without Germline SDHB Mutation. Cui Y, Ma X, Wang F, Wang H, Zhou T, Chen S, Tong A, Li Y. | 07/10/2021 |
The genetic basis of isolated mitochondrial complex II deficiency. | The genetic basis of isolated mitochondrial complex II deficiency. Fullerton M, McFarland R, Taylor RW, Alston CL., Free PMC Article | 07/3/2021 |
Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study. | Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study. Ma X, Li M, Tong A, Wang F, Cui Y, Zhang X, Zhang Y, Chen S, Li Y., Free PMC Article | 06/5/2021 |
De novo SDHB gene mutation in a family with extra-adrenal paraganglioma. | De novo SDHB gene mutation in a family with extra-adrenal paraganglioma. Mauer CB, Reys B, Wickiser J. | 05/29/2021 |
TET-Mediated Hypermethylation Primes SDH-Deficient Cells for HIF2alpha-Driven Mesenchymal Transition. | TET-Mediated Hypermethylation Primes SDH-Deficient Cells for HIF2α-Driven Mesenchymal Transition. Morin A, Goncalves J, Moog S, Castro-Vega LJ, Job S, Buffet A, Fontenille MJ, Woszczyk J, Gimenez-Roqueplo AP, Letouzé E, Favier J. | 03/27/2021 |
Trimethylamine N-oxide promotes apoE(-/-) mice atherosclerosis by inducing vascular endothelial cell pyroptosis via the SDHB/ROS pathway. | Trimethylamine N-oxide promotes apoE(-/-) mice atherosclerosis by inducing vascular endothelial cell pyroptosis via the SDHB/ROS pathway. Wu P, Chen J, Chen J, Tao J, Wu S, Xu G, Wang Z, Wei D, Yin W. | 03/6/2021 |
Immunohistochemistry and Mutation Analysis of SDHx Genes in Carotid Paragangliomas. | Immunohistochemistry and Mutation Analysis of SDHx Genes in Carotid Paragangliomas. Snezhkina AV, Kalinin DV, Pavlov VS, Lukyanova EN, Golovyuk AL, Fedorova MS, Pudova EA, Savvateeva MV, Stepanov OA, Poloznikov AA, Demidova TB, Melnikova NV, Dmitriev AA, Krasnov GS, Kudryavtseva AV., Free PMC Article | 02/27/2021 |
Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma. | Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma. Bayley JP, Bausch B, Rijken JA, van Hulsteijn LT, Jansen JC, Ascher D, Pires DEV, Hes FJ, Hensen EF, Corssmit EPM, Devilee P, Neumann HPH. | 02/6/2021 |