associated with the main clinical manifestations of SLE, and sorted out the potential reasons for the differences in susceptibility in Asia and Europe. Moreover, the therapies targeting STAT4 and IRF5 were also evaluated in order to propose more personalized and targeted treatment plans in SLE. Ac...
Browning genes code for tyrosinase related protein-1 (TYRP1) , an enzyme involved in the metabolic pathway for eumelanin pigment production. The dominant form, B, produces black color. Recessive variants are b (chocolate) and bl (cinnamon/light brown). B - Black/Brown Locus Genotype ...
of genes and promoters during tomato domestication and improvement. Lost or negatively selected genes are enriched for important traits, especially disease resistance. We identify a rare allele in theTomLoxCpromoter selected against during domestication. Quantitative trait locus mapping and analysis of ...
et al. Variant ribosomal RNA alleles are conserved and exhibit tissue-specific expression. Sci. Adv. 4, eaao0665 (2018). Article PubMed PubMed Central Google Scholar Kuo, B. A., Gonzalez, I. L., Gillespie, D. A. & Sylvester, J. E. Human ribosomal RNA variants from a single ...
Despite the acceleration of somatic driver gene discovery facilitated by recent large-scale tumor sequencing data, the contribution of inherited variants remains largely unexplored, primarily focusing on previously known cancer predisposition genes (CPGs
Selective signal detection is essential for understanding the origin of livestock breeds and the genetic processes influencing phenotypic differentiation. In addition, detecting selection signals is of great significance for characterizing genetic resources of livestock and identifying genetic variants that lead...
In many cases, tumor modifier genes are identified due to the association of their polymorphic variants with cancer susceptibility, and this association is determined bywhole genome sequencingof large populations. Further studies are then required to determine the characteristics of the gene and the man...
Results The TDT revealed no evidence for association for any of the SNPs or the (AAT)n repeat with AN (all two-sided uncorrected p-values > 0.05). The lowest p-value of 0.11 was detected for the A-allele of the CNR1 SNP rs1049353 for which the transmission rate was 59% (95% ...
In practice, implementing this strategy is complicated by high correlations among all these variables, which creates an identifiability challenge. Our key intuition is that causal signals in a genomic region affecting a phenotype of interest, whether via gene expression or variants, are likely sparse...
variant association signal is highly enriched among genes that are under strong selective pressures. These findings provide new insights into the biology and genetic architecture of schizophrenia, highlight the importance of mutation-intolerant genes and suggest a mechanism by which common risk variants ...