y1407345分类号;R739.91密级:学位类别:科学学位曰专业学位口◎学校代码:学号l0062加惦24惦又蚌酱科矢垮TlANJINMEDlCALUNIVERSlll硕士学位论文MASTER’SDISSER,I:ATIoN论文题目:副神经节瘤SDHD、SDHB基因突变分析TITLEAnalysisofSDHDandSDHBgenemutationsinparagangliomas一级学科:临床医学二级学科:肿瘤学论文作者:**指导...
Objective: Succinate dehydrogenase complex, subunit D (SDHD) gene mutations are most commonly associated with head and neck paragangliomas. We describe a pair of cases with early-onset, bilateral pheochromocytoma (PCC) and paraganglioma (PGL) syndrome associated with SDHD mutation. Methods: We ...
GENETIC mutationDIAGNOSISTHERAPEUTICSFAMILIESKey Clinical Messages: The newly published clinical consensus guideline on the management of PGL/PCC is helpful for decision‐making for diagnostics and treatment. Still, the treatment of patients with SDHD gene mutations requires an individual approach ...
The complex is assembled from 4 independent units – SDHA, SDHB, SDHC and SDHD – each encoded by respective gene. Mutation of either, as well as associated SDHAF2 – accessory protein that flavinates SDHA and thus maintains its proper functional activity, results accumulation of succinate and ...
通过对散发性嗜铬细胞瘤家系进行基因突变分析也为早期阶段典型症状体征未出现前肿瘤的检出提供可能。关键词:SDHB基因,SDHD基因,突变,嗜铬细胞瘤,副神经节瘤,聚合酶链式反应(PCR)上海交通大学医学院硕士学位论文-IV-MUTATIONANALYSISOFSDHBGENEANDSDHDGENEINSPORADICPATIENTSWITHPHEOCHRO...
Moreover, different mutations may confer different risks.17 In this study, we have therefore evaluated age-specific risk of devel- oping a paraganglioma and/or phaeochromocytoma in an extended family consisting of 243 family members, in which the D92Y germline mutation in the SDHD gene ...
suggesting that SDHD also plays a role as a tumor-suppressor gene.In one family with a nonsense mutation (R22X) in the SDHD gene,a loss of heterozygosity was found in the paragangliomas,and within these tumors the enzymatic activity of Complex II in the mitochondrial respiratory chain was ...
suggesting that SDHD also plays a role as a tumor-suppressor gene. In one family with a nonsense mutation (R22X) in the SDHD gene, a loss of heterozygosity was found in the paragangliomas, and within these tumors the enzymatic activity of Complex II in the mitochondrial respiratory chain ...
In order to study the effect of SdhD mutation in hematopoiesis, we analyzed cell lineages in BM of SDHD-ESR mouse mutants. This model allows inducible ubiquitous CRE recombinase-mediated deletion of the SdhD gene by tamoxifen treatment. We have previously demonstrated that deletion of this gene...
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma Background Germline mutations of the SDHD, SDHB and SDHC genes, encoding three of the four subunits of succinate dehydrogenase, are a major cause of...