Recombinant Human Succinate dehydrogenase cytochrome b560 subunit, mitochondrial (SDHC)

1. SDHC Promoter hypermethylation is associated with Parasympathetic Paragangliomas. PMID: 29126304
2. 31% of the paragangliomas in the French Canadian can be explained by the SDHC mutation (c.397C>T, p.[Arg133Ter]). PMID: 27700540
3. Loss of the SDHC gene is associated with metastatic sympathetic paraganglioma. PMID: 26162468
4. This report provides evidence that SDHC promoter methylation can cause Paragangliomas due to SDHC inactivation PMID: 26652933
5. significant association with overall survival were confirmed for SDHC gene, SDHD gene and FH gene ... SDHC gene and FH gene were the primary factors contributing to the different overall survival time of colorectal carcinoma PMID: 26377099
6. The discovery of SDHC epimutation provides a unifying explanation for the pathogenesis of SDH-deficient gastrointestinal stromal tumors. PMID: 25540324
7. Variant in rs3935401 in the 3' untranslated region of SDHC is associated with hepatocellular carcinoma. PMID: 25081338
8. these data suggest epigenetic inactivation of the SDHC gene locus with functional impairment of the SDHC as a plausible alternate mechanism of tumorigenesis in Carney Triad PMID: 24859990
9. Thoracic paragangliomas are common in patients with SDHC mutations, and imaging of this area should be included in surveillance of mutation carriers. PMID: 24758179
10. this study reports the first patient affected by malignant paraganglioma and< moreover, it reports two more unrelated patients with the same genotype and very different clinical presentations. PMID: 24423348
11. No SDHC mutation were found in patients with sporadic paraganglioma. PMID: 22566194
12. Biallelic inactivation of the SDHC gene may represent a new pathway of pathogenesis of syndromic and nonsyndromic renal cell carcinoma, perhaps of both clear cell and papillary histologies PMID: 22351710
13. Case Report: present a 32-year-old man with a familial SDHC mutation who manifests synchronous paragangliomas of the carotid body and the thoracic aortopulmonary window. PMID: 21106325
14. mammalian cells over expressing mutations in SDHC demonstrate low-dose/low-LET radiation sensitization that is mediated by increased levels of O*- and HO. PMID: 21268708
15. A splice donor site mutation in SDHC is associates with autosomal dominant malignant and catecholamine-producing paraganglioma PMID: 12658451
16. description of a large deletion in a complex II gene and confirmation of the role of SDHC in familial and sporadic paragangliomas PMID: 15342702
17. Mutant protein in transgenic mice generates oxidative stress and can contribute to nuclear DNA damage, mutagenesis, and ultimately, tumorigenesis PMID: 15665296
18. Germline mutations of SDHC play a minor role in sporadic head and neck paraganglioma. PMID: 16405730
19. familial gastrointestinal stromal tumors may be caused by mutations of the succinate dehydrogenase subunit genes SDHB, SDHC, and SDHD, and abdominal paragangliomas associated with gastrointestinal tumors may be caused uniquely by SDHC mutations PMID: 17804857
20. Gene deletions of SDHD and SDHC represent a substantial proportion of all mutations, and must be considered in paraganglioma patients shown to be negative for mutations by sequencing. PMID: 19546167

显示更多

收起更多

HGNC: 10682

OMIM: 602413

KEGG: hsa:6391

STRING: 9606.ENSP00000356953

UniGene: Hs.444472