The four types of genetic variants of lactate dehydrogenase (LDH) found so far in the Indian populations surveyed by starch-gel electrophoresis of haemolysates are described, pointing out their characteristic features. Two of these variant types, namely, ‘Calcutta-1’ and ‘Madras-1, were ...
The present study describes the genetic characteristics of EVs serotypes associated with HFMD in Anhua County, Hunan Province, China, between 2013 and 2016. The VP1 protein plays a major role in the infectivity, replication and virulence of EVs and is the primary target for neutralizing antibodies...
The functional interpretation of genome-wide association studies (GWAS) is challenging due to the cell-type-dependent influences of genetic variants. Here, we generated comprehensive maps of expression quantitative trait loci (eQTLs) for 659 microdissected human kidney samples and identified cell-type-...
The researchers then distinguished variants into two types: type I variants corresponded to genetic variants found in the normal population, whereas type II variants are variants that are specific to cancer. Using a novel algorithm, the researchers were able to predict the sensitivity of tumor c...
The GWAS data was combined with the ReapTEC analysis results, which uncovered that genetic variants for immune-mediated diseases were frequently located within the bidirectional enhancer DNA of the rare T cells that they had identified. However, genetic variants for neurological diseases did not show...
ESR1 gene variants, haplotypes and diplotypes may influence the risk of breast cancer and mammographic densityBreast neoplasmGenetic variationBreast densityEstrogen receptorAssociation studyBreast cancer as the most common cancer worldwide is influenced by genetic and physiological factors. Based on some ...
J. On the road to universal screening for risk of type 1 diabetes. Lancet Diabetes Endocrinol. 10, 554–555 (2022). Article PubMed PubMed Central Google Scholar Koskinen, M. K. et al. Longitudinal pattern of first-phase insulin response is associated with genetic variants outside the ...
Systematic mutation screening of the pro-opiomelanocortin gene: identification of several genetic variants including three different insertions, one nonsen... Pro-opiomelanocortin (POMC) is the precursor of melanocortins (adrenocorticotropin: ACTH, beta-endorphin, beta-lipotropin: beta-LPH, corticotropin...
variants. Variation ontology (VariO) has been developed for annotation and description of variation effects, mechanisms and consequences. A holistic view for variations in proteins is made available along with examples of real cases. Protein variants can be of genetic origin or emerge at protein ...
et al. Evaluation of genetic variants in microRNA-related genes and risk of bladder cancer. Cancer Res 68, 2530–2537 (2008). 23. Boross, G., Orosz, K. & Farkas, I. J. Human microRNAs co-silence in well-separated groups and have different predicted essentialities. Bioinformatics 25, ...