Nishioka, Selection of human cells having two different types of mutations in individual cells (genetic/artificial mutants): Application to the diagnosis of the heterozygous state for a type of adenine phosphoribosyltransferase deficiency., Hum. Genet. 76: 148 (1987). View Article...
To date, most expression quantitative trait loci (eQTL) studies, which investigate how genetic variants contribute to gene expression, have been performed in heterogeneous brain tissues rather than specific cell types. In this study, we performed an eQTL
The genotype-phenotype correlation in LOXHD1 is still unclear. The differences in phenotypes in each patient might be the result of the nature of the mutations or the location on the gene, or be influenced by a genetic modifier. 展开
et al. Whole genome sequencing of Mycobacterium tuberculosis clinical isolates from India reveals genetic heterogeneity and region-specific variations that might affect drug susceptibility. Front. Microbiol. 10, 309 (2019). Article PubMed PubMed Central Google Scholar Ginhoux, F., Schultze, J. L....
Recently, we found nonsense and missense mutations of the PPP1R3 (protein phosphatase 1, regulatory subunit 3) gene in diverse human cancer cell lines and primary lung carcinomas, indicating that PPP1R3 functions as a tumor suppressor in human carcinogenesis. In this study, to assess the preval...
Mendelian disorders are the genetic disorder which are mainly caused by the single gene disorders or by the result of mutation in humans.
CCM presents in either an autosomal dominant familial form, or a more common sporadic form [2]. Familial CCMs develop because of germ-line heterozygous loss of function (LOF) mutations in one of three CCM genes (KRIT1/CCM1, Malcavernin/CCM2, or PDCD10/CCM3) [8, 9]. Familial CCM les...
in 21 of 24 (87.5%) identified EV-A71 samples, a known amino acid substitution (D31N) that may enhance neurovirulence was detected. Our study provides insights about the genetic characteristics of common HFMD-associated EVs. However, the emergence and virulence of the described mutations require...
In fact, FST was 0.82 (Po0.0001), implying the existence of a high level of genetic structure in chromosomes for these paralogous DNA sequences, even when singletons were discarded. This intragenomic structure was also displayed in the minimum spanning tree built with unique haplotypes (Figure ...
In addition to these rare causing mutations, it is known that the genetic risk for chronic pain is due to common variations with small effect size26. Close to half of the risk of developing chronic pain are attributable to genetic factors27,28,29, including musculoskeletal pain conditions28. ...