1 | CWS2, PGL4, SDHB
|
| Outcomes of annual surveillance imaging in an adult and paediatric cohort of succinate dehydrogenase B mutation carriers.
|
| Tufton N, Shapiro L, Srirangalingam U, Richards P, Sahdev A, Kumar AV, McAndrew L, Martin L, Berney D, Monson J, Chew SL, Waterhouse M, Druce M, Korbonits M, Metcalfe K, Drake WM, Storr HL, Akker SA.
|
| Clin Endocrinol (Oxf) lin Endocrinol (Oxf). 2016 Sep 28. doi: 10.1111/cen.13246. [Epub ahead of print]
2016
|
2 | SDHB, SDHBD
|
| Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling.
|
| Grønborg S, Darin N, Miranda MJ, Damgaard B, Cayuela JA, Oldfors A, Kollberg G, Hansen TV, Ravn K, Wibrand F, Østergaard E.
|
| JIMD Rep IMD Rep. 2016 Sep 8. [Epub ahead of print]
2016
|
3 | CERS5, SDHB
|
| LASS5 Interacts with SDHB and Synergistically Represses p53 and p21 Activity.
|
| Jiang Z, Li F, Wan Y, Han Z, Yuan W, Cao L, Deng Y, Peng X, Chen F, Fan X, Liu X, Dai G, Wang Y, Zeng Q, Shi Y, Zhou Z, Chen Y, Xu W, Luo S, Chen S, Ye X, Mo X, Wu X, Li Y
|
| Curr Mol Med. 16(6):582-90. doi: 10.2174/1566524016666160607090012. 2016
|
4 | CWS2, PGL4, SDHB
|
| Structural and functional consequences of succinate dehydrogenase subunit B mutations.
|
| Kim E, Rath EM, Tsang VH, Duff AP, Robinson BG, Church WB, Benn DE, Dwight T, Clifton-Bligh RJ.
|
| Endocr Relat Cancer 22(3):387-97. doi: 10.1530/ERC-15-0099.
2015
|
5 | SDHB
|
| Signalling pathways in succinate dehydrogenase B-associated renal carcinoma.
|
| Fleming S, Mayer NJ, Vlatkovic LJ, McLean J, McConachie M, Baty D.
|
| Histopathology 64(4):477-83. doi: 10.1111/his.12250.
2014
|
6 | PGL4, SDHB
|
| The presence of SDHB mutations should modify surgical indications for carotid body paragangliomas.
|
| Ellis RJ, Patel D, Prodanov T, Nilubol N, Pacak K, Kebebew E.
|
| Ann Surg 260(1):158-62. doi: 10.1097/SLA.0000000000000283.
2014
|
7 | SDHA, SDHB
|
| Mitochondrial complex II and genomic imprinting in inheritance of paraganglioma tumors.
|
| Baysal BE.
|
| Biochim Biophys Acta 1827(5):573-7. doi: 10.1016/j.bbabio.2012.12.005. Review.
2013
|
8 | SDHA, SDHAD, SDHB, SDHBD
|
| Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.
|
| Alston CL, Davison JE, Meloni F, van der Westhuizen FH, He L, Hornig-Do HT, Peet AC, Gissen P, Goffrini P, Ferrero I, Wassmer E, McFarland R, Taylor RW.
|
| J Med Genet 49(9):569-77. doi: 10.1136/jmedgenet-2012-101146.
2012
|
9 | SDHB
|
| Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function.
|
| Yang C, Matro JC, Huntoon KM, Ye DY, Huynh TT, Fliedner SM, Breza J, Zhuang Z, Pacak K.
|
| FASEB J 26(11):4506-16. doi: 10.1096/fj.12-210146.
2012
|
10 | SDHB
|
| Loss of succinate dehydrogenase subunit B (SDHB) expression is limited to a distinctive subset of gastric wild-type gastrointestinal stromal tumours: a comprehensive genotype-phenotype correlation study.
|
| Doyle LA, Nelson D, Heinrich MC, Corless CL, Hornick JL.
|
| Histopathology 61(5):801-9. doi: 10.1111/j.1365-2559.2012.04300.x.
2012
|
11 | SDHA, SDHB, SIRT3
|
| Succinate dehydrogenase is a direct target of sirtuin 3 deacetylase activity.
|
| Finley LW, Haas W, Desquiret-Dumas V, Wallace DC, Procaccio V, Gygi SP, Haigis MC.
|
| PLoS One 6(8):e23295. doi: 10.1371/journal.pone.0023295. Epub 2011 Aug 17.
2011
|
12 | SDHB, SDHD
|
| Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.
|
| Ricketts CJ, Forman JR, Rattenberry E, Bradshaw N, Lalloo F, Izatt L, Cole TR, Armstrong R, Kumar VK, Morrison PJ, Atkinson AB, Douglas F, Ball SG, Cook J, Srirangalingam U, Killick P, Kirby G, Aylwin S, Woodward ER, Evans DG, Hodgson SV, Murday V, Chew SL, Connell JM, Blundell TL, Macdonald F, Maher ER.
|
| Hum Mutat 31(1):41-51.PMID: 19802898 2010
|
13 | PGL4, SDHB
|
| Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery.
|
| Schimke RN, Collins DL, Stolle CA.
|
| Am J Med Genet A 152A(6):1531-5.PMID: 20503330 2010
|
14 | PGL4, SDHB
|
| Penetrance and clinical consequences of a gross SDHB deletion in a large family.
|
| Solis DC, Burnichon N, Timmers HJ, Raygada MJ, Kozupa A, Merino MJ, Makey D, Adams KT, Venisse A, Gimenez-Roqueplo AP, Pacak K.
|
| Clin Genet 75(4):354-63.
2009
|
15 | SDHB, SDHC, SDHD, TIMM8B
|
| Molecular characterization of novel germline deletions affecting SDHD and SDHC in pheochromocytoma and paraganglioma patients.2009 PMID:
|
| Bayley JP, Weiss MM, Grimbergen A, van Brussel BT, Hes FJ, Jansen JC, Verhoef S, Devilee P, Corssmit EP, Vriends AH.
|
| Endocr Relat Cancer. Sep;16(3):929-37. doi: 10.1677/ERC-09-0084. Epub 2009 Jun 22. 2009
|
16 | SDHB, PGL4
|
| Molecular characterisation of a common SDHB deletion in paraganglioma patients.
|
| Cascn A, Landa I, Lpez-Jiménez E, Dez-Hernndez A, Buchta M, Montero-Conde C, Leskel S, Leandro-Garca LJ, Letn R, Rodrguez-Antona C, Eng C, Neumann HP, Robledo M.
|
| J Med Genet 45(4):233-8. Epub 2007 Dec 5. 2008
|
17 | SDHB, SDHD
|
| Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.
|
| Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C.
|
| Am J Hum Genet 83(2):261-8.
2008
|
18 | PGL1, PGL2, PGL3, PGL4, SDHB, SDHC SDHD
|
| Clinical and molecular progress in hereditary paraganglioma.
|
| Baysal BE.
|
| J Med Genet 45(11):689-94.
2008
|
19 | PGL4, SDHB
|
| Biochemically silent abdominal paragangliomas in patients with mutations in the succinate dehydrogenase subunit B gene.
|
| Timmers HJ, Pacak K, Huynh TT, Abu-Asab M, Tsokos M, Merino MJ, Baysal BE, Adams KT, Eisenhofer G.
|
| J Clin Endocrinol Metab 93(12):4826-32. Epub 2008 Oct 7.
2008
|
20 | SDHB
|
| Germline SDHB mutations and familial renal cell carcinoma.
|
| Ricketts C, Woodward ER, Killick P, Morris MR, Astuti D, Latif F, Maher ER.
|
| J Natl Cancer Inst 100(17):1260-2. Epub 2008 Aug 26.
2008
|
21 | CWS2, CWS3, SDHB, SDHD
|
| Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.
|
| Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C.
|
| Am J Hum Genet 83(2):261-8. doi: 10.1016/j.ajhg.2008.07.011.
2008
|
22 | SDHB
|
| Malignant paragangliomas associated with mutations in the succinate dehydrogenase d gene.
|
| Havekes B, Corssmit EP, Jansen JC, van der Mey AG, Vriends AH, Romijn JA.
|
| J Clin Endocrinol Metab 92(4):1245-8. Epub 2007 Jan 16. 2007
|
23 | SDHB, SDHD
|
| Novel germline mutations in the SDHB and SDHD genes in Japanese pheochromocytomas.
|
| Isobe K, Minowada S, Tatsuno I, Suzukawa K, Nissato S, Nanmoku T, Hara H, Yashiro T, Kawakami Y, Takekoshi K.
|
| Horm Res 68(2):68-71. Epub 2007 Feb 15.
2007
|
24 | PGL4, SDHB
|
| High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing.
|
| Brouwers FM, Eisenhofer G, Tao JJ, Kant JA, Adams KT, Linehan WM, Pacak K.
|
| J Clin Endocrinol Metab 91(11):4505-9. Epub 2006 Aug 15.
2006
|
25 | PGL1, PGL2, PGL3, PGL4, PGL5, SDHB, SDHD, SDHC
|
| Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.
|
| Benn DE, Gimenez-Roqueplo AP, Reilly JR, Bertherat J, Burgess J, Byth K, Croxson M, Dahia PL, Elston M, Gimm O, Henley D, Herman P, Murday V, Niccoli-Sire P, Pasieka JL, Rohmer V, Tucker K, Jeunemaitre X, Marsh DJ, Plouin PF, Robinson BG.
|
| J Clin Endocrinol Metab 91(3):827-36. Epub 2005 Nov 29. 2006
|
26 | FXN, SDHB, SDHA
|
| Frataxin interacts functionally with mitochondrial electron transport chain proteins.
|
| Gonzalez-Cabo P, Vazquez-Manrique RP, Garcia-Gimeno MA, Sanz P, Palau F.
|
| Hum Mol Genet 14(15):2091-8. Epub 2005 Jun 16. 2005
|
27 | SDHB
|
| Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma.
|
| Vanharanta S, Buchta M, McWhinney SR, Virta SK, Peczkowska M, Morrison CD, Lehtonen R, Januszewicz A, Jarvinen H, Juhola M, Mecklin JP, Pukkala E, Herva R, Kiuru M, Nupponen NN, Aaltonen LA, Neumann HP, Eng C.
|
| Am J Hum Genet 74(1):153-9. Epub 2003 Dec 18. 2004
|
28 | SDHB, SDHD
|
| SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas.
|
| Mhatre AN, Li Y, Feng L, Gasperin A, Lalwani AK.
|
| Clin Genet 66(5):461-6. 2004
|
29 | SDHB
|
| Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.
|
| Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Crespin M, Nau V, Khau Van Kien P, Corvol P, Plouin PF, Jeunemaitre X; COMETE Network.
|
| Cancer Res 63(17):5615-21. 2003
|
30 | PGL1, PGL2, PGL3, PGL4, SDHB, SDHC, SDHD
|
| Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.
|
| Baysal BE, Willett-Brozick JE, Lawrence EC, Drovdlic CM, Savul SA, McLeod DR, Yee HA, Brackmann DE, Slattery WH 3rd, Myers EN, Ferrell RE, Rubinstein WS.
|
| J Med Genet 39(3):178-83. 2002
|
31 | SDHB
|
| Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.
|
| Astuti D, Latif F, Dallol A, Dahia PL, Douglas F, George E, Skoldberg F, Husebye ES, Eng C, Maher ER.
|
| Am J Hum Genet 69(1):49-54. 2001
|
32 | BCS1L, C10orf2, COX10, COX10D, COX17, DSPP, FRDA, MNGIE, NARP, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NDUFV1D, NF1, OPA1, PGL1, PGL2, PGL3, POLG, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC25A4, SPG7, SURF1, VHL
|
| Nuclear genetic defects of oxidative phosphorylation.
|
| Shoubridge EA.
|
| Hum Mol Genet 10(20):2277-84. Review. 2001
|
33 | SDHB
|
| The gene for the iron sulfur protein of succinate dehydrogenase (SDH-IP) maps to human chromosome 1p35-36.1.
|
| Leckschat S, et al.
|
| Somat Cell Mol Genet 19 : 505-511. 1993
|
34 | SDHB
|
| Human complex II (succinate-ubiquinone oxidoreductase) : cDNA cloning ofiron sulfur (Ip) subunit of liver mitochondria.
|
| Kita K, et al.
|
| Biochem Biophys Res Commun 166 : 101-108. 1990
|
35 | SDHB
|
| Assignment of a gene for succinate dehydrogenase to human chromosome 1 by somatic cell hybridization.
|
| Mascarello JT, Soderberg K, Scheffler IE.
|
| Cytogenet Cell Genet 28 : 121-135. 1980
|