Citations for
1PGL3, SDHC
The Role of Immunohistochemistry and Molecular Analysis of Succinate Dehydrogenase in the Diagnosis of Endocrine and Non-Endocrine Tumors and Related Syndromes.
Oudijk L, Gaal J, de Krijger RR.
Endocr Pathol 30(1):64-73. doi: 10.1007/s12022-018-9555-2. Review. 2019
2SDHC
SDHC Promoter Methylation, a Novel Pathogenic Mechanism in Parasympathetic Paragangliomas.
Bernardo-Castiñeira C, Valdés N, Sierra MI, Sáenz-de-Santa-María I, Bayón GF, Perez RF, Fernández AF, Fraga MF, Astudillo A, Menéndez R, Fernández B, Del Olmo M, Suarez C, Chiara MD.
J Clin Endocrinol Metab 103(1):295-305. doi: 10.1210/jc.2017-01702. 2018
3SDHC
Epigenetic Mutation of the Succinate Dehydrogenase C Promoter in a Patient With Two Paragangliomas.
Richter S, Klink B, Nacke B, de Cubas AA, Mangelis A, Rapizzi E, Meinhardt M, Skondra C, Mannelli M, Robledo M, Menschikowski M, Eisenhofer G.
J Clin Endocrinol Metab 101(2):359-63. doi: 10.1210/jc.2015-3856. Epub 2015 Dec 11. 2016
4PGL3, SDHC
Metastatic sympathetic paraganglioma in a patient with loss of the SDHC gene.
Rich T, Jackson M, Roman-Gonzalez A, Shah K, Cote GJ, Jimenez C.
Fam Cancer 14(4):615-9. doi: 10.1007/s10689-015-9821-0. Epub 2015 Jul 11. 2015
5SDHC
Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad.
Haller F, Moskalev EA, Faucz FR, Barthelmeß S, Wiemann S, Bieg M, Assie G, Bertherat J, Schaefer IM, Otto C, Rattenberry E, Maher ER, Ströbel P, Werner M, Carney JA, Hartmann A, Stratakis CA, Agaimy A.
Endocr Relat Cancer 21(4):567-77. doi: 10.1530/ERC-14-0254. Epub 2014 May 23. 2014
6PGL3, SDHC
The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3).
Else T, Marvin ML, Everett JN, Gruber SB, Arts HA, Stoffel EM, Auchus RJ, Raymond VM.
J Clin Endocrinol Metab 99(8):E1482-6. doi: 10.1210/jc.2013-3853. Epub 2014 Apr 23. 2014
7SDHC
Biallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3.
Malinoc A, Sullivan M, Wiech T, Schmid KW, Jilg C, Straeter J, Deger S, Hoffmann MM, Bosse A, Rasp G, Eng C, Neumann HP.
Endocr Relat Cancer 19(3):283-90. doi: 10.1530/ERC-11-0324. Print 2012 Jun. 2012
8SDHC
Synchronous carotid body and thoracic paraganglioma associated with a germline SDHC mutation.
Vandy FC, Sisk G, Berguer R.
J Vasc Surg 53(3):805-7. doi: 10.1016/j.jvs.2010.09.064. Epub 2010 Nov 23. 2011
9SDHC, SDHD
Molecular characterization of novel germline deletions affecting SDHD and SDHC in pheochromocytoma and paraganglioma patients.
Bayley JP, Weiss MM, Grimbergen A, van Brussel BT, Hes FJ, Jansen JC, Verhoef S, Devilee P, Corssmit EP, Vriends AH.
Endocr Relat Cancer 16(3):929-37. doi: 10.1677/ERC-09-0084. Epub 2009 Jun 22. 2009
10SDHB, 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
11SDHD, PGL1, SDHC, PGL3, SDHD, PGL4
Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.
Pasini B, McWhinney SR, Bei T, Matyakhina L, Stergiopoulos S, Muchow M, Boikos SA, Ferrando B, Pacak K, Assie G, Baudin E, Chompret A, Ellison JW, Briere JJ, Rustin P, Gimenez-Roqueplo AP, Eng C, Carney JA, Stratakis CA.
Eur J Hum Genet 16(1):79-88. Epub 2007 Aug 1. 2008
12PGL1, 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
13SDHC
A mutation in the SDHC gene of complex II increases oxidative stress, resulting in apoptosis and tumorigenesis.
Ishii T, Yasuda K, Akatsuka A, Hino O, Hartman PS, Ishii N.
Cancer Res 65(1):203-9. 2005
14SDHC, PDE6A
An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma.
Baysal BE, Willett-Brozick JE, Filho PA, Lawrence EC, Myers EN, Ferrell RE.
J Med Genet 41(9):703-9. No abstract available. 2004
15PGL1, 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
16BCS1L, 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
17SDHC
Mutations in SDHC cause autosomal dominant paraganglioma, type 3.
Niemann S, Muller U.
Nat Genet 26(3):268-70. 2000
18SDHC
Characterization of the human SDHC gene encoding of the integral membrane proteins of succinate-quinone oxidoreductase in mitochondria.
Elbehti-Green A, et al.
Gene 213 : 133-140. 1998
19ABCC8, SDHC
A human succinate-ubiquinone oxidoreductase CII-3 subunit gene ending in a polymorphic dinucleotide repeat is located within the sulfonylurea receptor (SUR) gene.
Wohllk N, et al.
Mol Genet Metab 65 : 187-190. 1998
20SDHC, SDHD
Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase) : cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23.
Hirawake H, et al.
Cytogenet Cell Genet 79 : 132-138. 1997
21SDHC
A Chinese hamster mutant cell line with a defect in the integral membrane protein CII-3 of complex II of the mitochondrial electron transport chain.
Oostveen FG, et al.
J Biol Chem 270 : 26104-26108. 1995
22SDHC
The cDNA sequence of beef heart CII-3, a membrane-intrinsic subunit of succinate-ubiquinone oxidoreductase.
Cochran B, et al.
Biochim Biophys Acta 1188 : 162-166. 1994