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Glioma is the most common malignant primary brain tumors with poor prognosis. Genome wide association studies (GWAS) of glioma in populations with Western European ancestry were completed in the US and UK. However, our previous results strongly suggest the genetic heterogeneity could be important in glioma risk. To systematically investigate glioma risk–associated variants in Chinese population, we...
The Alu(I/D) polymorphism of the PLAT (TPA25), PKHD1L1 (Yb8AC702), STK38L (Ya5ac2145), and TEAD1 (Ya5ac2013) genes was for the first time characterized in an ethnically homogeneous group of Tatars living in the Republic of Bashkortostan, and the association of Alu(I/D) polymorphism in each of the genes with age was established. The study group included 1580 individuals unrelated to each other (21–109...
Fine mapping followed by candidate gene analysis of erd — a canine hereditary retinal degeneration characterized by aberrant photoreceptor development — established that the disease cosegregates with a SINE insertion in exon 4 of the canine STK38L/NDR2 gene. The mutation removes exon 4 from STK38L transcripts and is predicted to remove much of the N terminus from the translated protein, including...
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