| Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants. | 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., Free PMC Article | 04/26/2023 |
| 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 |
| A need to tailor surveillance based on family history: describing a highly penetrant familial paraganglioma kindred with an SDHD pathogenic variant. | A need to tailor surveillance based on family history: describing a highly penetrant familial paraganglioma kindred with an SDHD pathogenic variant.
Foley M, Sharma A, Garfield K, Maese L, Buchmann L, Boyle J, Kohlmann W, Jeter J, Greenberg S. | 03/23/2023 |
| 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. | 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., Free PMC Article | 01/14/2023 |
| Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency. | Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.
Lin S, Fasham J, Al-Hijawi F, Qutob N, Gunning A, Leslie JS, McGavin L, Ubeyratna N, Baker W, Zeid R, Turnpenny PD, Crosby AH, Baple EL, Khalaf-Nazzal R., 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 |
| Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma. | Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma.
Kim JH, Kim MJ, Kong SH, Kim SJ, Kang H, Shin CS, Park SS, Lee KE, Seong MW. | 03/12/2022 |
| MicroRNA-101-3p Modulates Mitochondrial Metabolism via the Regulation of Complex II Assembly. | MicroRNA-101-3p Modulates Mitochondrial Metabolism via the Regulation of Complex II Assembly.
Ziemann M, Lim SC, Kang Y, Samuel S, Sanchez IL, Gantier M, Stojanovski D, McKenzie M. | 02/5/2022 |
| Complex II subunit SDHD is critical for cell growth and metabolism, which can be partially restored with a synthetic ubiquinone analog. | Complex II subunit SDHD is critical for cell growth and metabolism, which can be partially restored with a synthetic ubiquinone analog.
Bandara AB, Drake JC, Brown DA., Free PMC Article | 01/1/2022 |
| Bcl2l10 induces metabolic alterations in ovarian cancer cells by regulating the TCA cycle enzymes SDHD and IDH1. | Bcl2l10 induces metabolic alterations in ovarian cancer cells by regulating the TCA cycle enzymes SDHD and IDH1.
Lee SY, Kwon J, Lee KA., Free PMC Article | 10/30/2021 |
| Genetic stratification of inherited and sporadic phaeochromocytoma and paraganglioma: implications for precision medicine. | Genetic stratification of inherited and sporadic phaeochromocytoma and paraganglioma: implications for precision medicine.
Casey R, Neumann HPH, Maher ER., Free PMC Article | 09/4/2021 |
| 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 |
| 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 |
| Systemic Mitochondrial Oxidative Phosphorylation Protein Levels Correlate with Neuroimaging Measures in Chronically HIV-Infected Individuals. | Systemic Mitochondrial Oxidative Phosphorylation Protein Levels Correlate with Neuroimaging Measures in Chronically HIV-Infected Individuals.
Kallianpur KJ, Walker M, Gerschenson M, Shikuma CM, Gangcuangco LMA, Kohorn L, Libutti DE, Nir TM, Jahanshad N, Thompson PM, Paul R., Free PMC Article | 12/12/2020 |
| Carriers of succinate dehydrogenase (SDHx) mutations are at risk of developing phaeochromocytomas, catecholamine secreting extra-adrenal paragangliomas and non-secretory head and neck paragangliomas and require lifelong surveillance. | Higher risk of phaeochromocytoma/paraganglioma (Phaeo-Pgl) in SDHD than SDHB carriers: an Australian cohort study.
Hong A, Shanahan M, Schenberg T, Inder W, MacIsaac R, James P, Sachithanandan N. | 01/11/2020 |
| The p81L mutation in the SDHD gene was found in the Mexican population in higher grade that in the United States population | 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. | 12/14/2019 |
| Specific genotype-tumour risk associations provides a basis for novel investigative strategies into succinate dehydrogenase-related mechanisms of tumourigenesis and the development of personalised management for SDHB/SDHC/SDHD mutation carriers | 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., Free PMC Article | 09/21/2019 |
| SDHD gene mutation rate was higher in patients and family members with multiple PGL in the head and neck, which suggests that the SDHD gene plays an important role in the pathogenesis of multiple PGL in the head and neck. | SDHx gene detection and clinical Phenotypic analysis of multiple paraganglioma in the head and neck.
Ding Y, Feng Y, Wells M, Huang Z, Chen X. | 05/25/2019 |
| Carriers of a paternally inherited SDHD variant face a considerable risk for metachronous head and neck paraganglioma. | Clinical progression and metachronous paragangliomas in a large cohort of SDHD germline variant carriers.
Heesterman BL, de Pont LMH, van der Mey AG, Bayley JP, Corssmit EP, Hes FJ, Verbist BM, van Benthem PPG, Jansen JC., Free PMC Article | 04/6/2019 |
| Study found that mutations in the SDHD gene were less common in Russian patients compared with the majority of European populations. It was shown that the p.His102Arg mutation is a major mutation in Russia. Study confirmed the previous suggestion that a bilateral localization of the tumor and the carotid type represent a marker of the genetically determined form of head and neck paraganglioma. | The spectrum of SDHD mutations in Russian patients with head and neck paraganglioma.
Shulskaya MV, Shadrina MI, Bakilina NA, Zolotova SV, Slominsky PA. | 03/30/2019 |
| Mathematical modeling of disease dynamics in SDHB- and SDHD-related paraganglioma: Further step in understanding hereditary tumor differences and future therapeutic strategies. | Mathematical modeling of disease dynamics in SDHB- and SDHD-related paraganglioma: Further step in understanding hereditary tumor differences and future therapeutic strategies.
Barbolosi D, Crona J, Serre R, Pacak K, Taieb D., Free PMC Article | 01/26/2019 |
| In 25 Mexican patients with carotid body tumors, there were 4 with a heterozygous p81L SDHD (11q23) gene mutation. This is greater than the rate in the U.S. population and may explain the high incidence of this pathology in Mexico. | [SDHD gene mutation in Mexican population whit carotid body tumor].
Enríquez-Vega ME, Muñoz-Paredes JG, Cossío-Zazueta A, Ontiveros-Carlos Y, Pacheco-Pittaluga E, Bizueto-Rosas H. | 12/1/2018 |
| Mutations in one of the five genes encoding the succinate dehydrogenase or mitochondrial complex II cause the corresponding family syndromes characterized by the occurrence of pheochromocytomas and paragangliomas--REVIEW | DIAGNOSIS of ENDOCRINE DISEASE: SDHx mutations: beyond pheochromocytomas and paragangliomas.
Mannelli M, Canu L, Ercolino T, Rapizzi E, Martinelli S, Parenti G, De Filpo G, Nesi G. | 12/16/2017 |
| A targeted familial genetic test should be proposed from the age of 18 years to every subject having a mother carrying a germline SDHD mutation and a first medical workup, including imaging, should be recommended to SDHD-positive mutation carriers | Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma.
Burnichon N, Mazzella JM, Drui D, Amar L, Bertherat J, Coupier I, Delemer B, Guilhem I, Herman P, Kerlan V, Tabarin A, Wion N, Lahlou-Laforet K, Favier J, Gimenez-Roqueplo AP. | 11/26/2017 |