Related GMR Articles
A common mutation in the BRAF gene, comprising the T1799A nucleotide transversion, which leads to the V600E amino acid substitution in the BRAF protein, has been observed in about 50% of papillary thyroid carcinomas (PTCs). However, BRAF protein expression has been rarely examined in such tumors. Clinical studies have shown important associations between BRAF mutation and ... more
Phosphatidylinositol-3-OH kinase and RAS-activated signaling pathways play an important role in tumor formation. Abnormalities in relevant genes play essential roles in the occurrence and development of many human cancers. Studies of breast cancer have mainly focused on the women in western countries, but few studies have examined the frequency of mutations in PIK3CA, BRAF ... more
The purpose of this study was to assess the correlation between the survivin gene and the occurrence and pathogenesis of papillary thyroid carcinoma (PTC). Sixty patients with PTC and no preoperative chemotherapy were recruited for the study and 30 thyrophyma patients receiving operative treatment in Drum Tower Hospital (Nanjing, China) were included as the control group. The protein ... more
Dilated cardiomyopathy (DCM) is a myocardial disease with a high mortality rate. Approximately 40 genes have been found to be associated with DCM to date. Non-familial DCM can also be caused by gene mutations, suggesting that genetic factors were involved in the pathogenesis of DCM; therefore genetic testing is beneficial for the early diagnosis of DCM, which can facilitate the ... more
Aniridia is an autosomal dominant disorder characterized by the complete or partial loss of the iris and is almost associated with mutations in the paired box gene 6 (PAX6). We examined three generations of a Chinese family with congenital aniridia and observed genetic defects. Exons of PAX6 from 12 family members were amplified by polymerase chain reaction, sequenced, ... more
To evaluate the genotype-phenotype relationship of Gitelman syndrome in Chinese patients. We selected patients with Gitelman syndrome presenting hypokalemia. Medical history, clinical manifestations, laboratory test results, and imaging data of these patients were collected for analysis. Target gene sequencing was performed to evaluate the genotype-phenotype relationship. Gitelman ... more
Wilms tumor (WT) is a complex pediatric disease involving both genetic and epigenetic factors. There is strong evidence that mutations at WT1 and WT2 loci are associated with the etiopathology of WT cases. In humans, large numbers of predisposition genes are distributed throughout the genome, and their functional aptitude has not been defined clearly in tumor ... more