Property Summary

NCBI Gene PubMed Count 62
Grant Count 27
R01 Count 11
Funding $4,138,540.35
PubMed Score 399.03
PubTator Score 321.92

Knowledge Summary

Patent

No data available

Expression

Gene RIF (47)

PMID Text
26652933 This report provides evidence that SDHC promoter methylation can cause Paragangliomas due to SDHC inactivation
26377099 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
26259135 This study strengthens the etiological association of SDH genes with pituitary neoplasia, renal tumorigenesis, and gastric gastrointestinal stromal tumors. Also, pancreatic neuroendocrine tumor falls within the SDH-related tumor spectrum.
26162468 Loss of the SDHC gene is associated with metastatic sympathetic paraganglioma.
25694510 Both germline and somatic SDHx mutations/variants occur in sporadic differentiated thyroid cancer (DTC) but are very rare in sporadic breast cancer, and overall loss of SDHx gene expression is a signature of DTC
25540324 The discovery of SDHC epimutation provides a unifying explanation for the pathogenesis of SDH-deficient gastrointestinal stromal tumors.
25081338 Variant in rs3935401 in the 3' untranslated region of SDHC is associated with hepatocellular carcinoma.
24859990 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
24758179 Thoracic paragangliomas are common in patients with SDHC mutations, and imaging of this area should be included in surveillance of mutation carriers.
24423348 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.
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AA Sequence

MAALLLRHVGRHCLRAHFSPQLCIRNAVPLGTTAKEEMERFWNKNIGSNRPLSPHITIYSWSLPMAMSIC      1 - 70
HRGTGIALSAGVSLFGMSALLLPGNFESYLELVKSLCLGPALIHTAKFALVFPLMYHTWNGIRHLMWDLG     71 - 140
KGLKIPQLYQSGVVVLVLTVLSSMGLAAM                                             141 - 169
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Text Mined References (65)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26652933 2016 Epigenetic Mutation of the Succinate Dehydrogenase C Promoter in a Patient With Two Paragangliomas.
26377099 2015 Genetic variations in genes of metabolic enzymes predict postoperational prognosis of patients with colorectal cancer.
26259135 2015 Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum.
26162468 2015 Metastatic sympathetic paraganglioma in a patient with loss of the SDHC gene.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25694510 2015 Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancer.
25540324 2014 Recurrent epimutation of SDHC in gastrointestinal stromal tumors.
25081338 2014 Genetic variants in genes of tricarboxylic acid cycle key enzymes predict postsurgical overall survival of patients with hepatocellular carcinoma.
24859990 2014 Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad.
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