SDHD gene mutationglomus tumorhereditary pheochromocytomaparaganglioma syndromesThe 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 ...
genes,andmanystudiesshowthatthemutationrateofpheochromocytomasusceptibility genescanreachto20%.However,themutationratehasnotbeenpublishedinChina. WiththediscoveryofDNADoubleHelix,wehaveknownthediseaseindepth.To investigatethemutationsofSDHBandSDHDtumorsuppressorgeneinChinesesporadic ...
4.SDHDandSDHBtest is of significance to multicentric,early onsetand pathologicallymalignant chinese patients、析mparaganglioma. Keywords:paraganglioma succinate dehydrogenase SDHgene mutation carotidbodytumor mitochondria III 天津医科大学硕士学位论文 符号说明 ...
Pigny P, Vincent A, Cardot BC et al: Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation. J Clin Endocrinol Metab 2008; 93: 1609–1615. Article CAS Google Scholar Gong G, Whittemore AS : Optimal designs for estimating penetrance of rare mutations of a disease...
Reduced expression and loss of heterozygosity of SDHD gene are observed in gastric and colon carcinoma [167]. The R22X mutation of SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II of mitochondrial respiratory chain and activates HIF-1α, leading to increased ...
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...
1988) and for the involvement of the SDHD protein in the pathogenesis of hereditary paraganglioma (Baysal et al. 2000). In the present study, we investigated the function of a new nonsense mutation in the SDHD gene discovered in a family with familial paraganglioma. We used molecular genetics...
The gene sequence of SDHD with CRISPR targeting sites is shown a. The sgRNA and PAM sequences predicted by the online idtdna program are depicted in blue and red colors, respectively; the specific site for mutation (at 118-bp) is shown with a green arrow. Expression of SDHD protein is...
This combination of phosphorylation and acetylation of FOXO3a results in its nuclear export for degradation and consequent down-regulation of FOXO3a-target autophagy-related gene (ATG) expression. Overall, our study reveals a novel mechanism of crosstalk amongst SDHD, PTEN and autophagy pathways and ...