Ages of selective sweeps suggest that live-bearer-specific alleles accumulated over more than 200,000 generations. Our results suggest that new functions evolve through the recruitment of many alleles rather than in a single evolutionary step. ...
(p.Asp70Tyr) substitution. These mutations affect TBC1D24 amino acid residues that are conserved in orthologs ranging from fruit fly to human. Neither variant was observed in databases of single nucleotide variants or in 634 chromosomes from ethnically matched control subjects. TBC1D24 in the ...
Alternate allele frequency Frequency of alternate (non-reference) SNP alleles were calculated on both arrays using the full 485 sample dataset (WGS + SNP), genotypes derived from whole genome sequence only (WGS Only), and from samples genotyped on the 2M test array described above (SNP Only; ...
Wild-type p53 suppresses growth of human prostate cancer cells containing mutant p53 alleles. Cancer Res. 1991;51:4716–20. CAS PubMed Google Scholar Wang S, Garcia AJ, Wu M, Lawson DA, Witte ON, Wu H. Pten deletion leads to the expansion of a prostatic stem/progenitor cell ...
(ADAMTS17, OMIM: 607511). We assess the effects on ocular biomechanics, including IOP and CH, and various eye diseases. We find a variant nearANAPC1that strongly associates with cell density but not with risk of eye disease, which indicates that low cell density alone does not affect ...
The TTN gene codes for the largest protein in the human body, titin, which is involved in regulating the organization of the cytoskeleton in cardiomyocytes. The protein also interacts directly with the CAPN3 protein, which is involved in the organization of the extracellular matrix. Therefore, ...