Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation
Sign Up to like & getrecommendations! Published in 2018 at "Scientific Reports"
DOI: 10.1038/s41598-018-33066-x
Abstract: A genome-wide evaluation of the effects of ionizing radiation on mutation induction in the mouse germline has identified multisite de novo mutations (MSDNs) as marker for previous exposure. Here we present the results of a… read more here.
Keywords: novo mutations; exposure; multisite novo; mutations human ... See more keywords
Screening and molecular characterization of lethal mutations of human homogentisate 1, 2 dioxigenase
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Biomolecular Structure and Dynamics"
DOI: 10.1080/07391102.2020.1736158
Abstract: Abstract Alkaptonuria (AKU) is an autosomal recessive disorder, which is caused by a site-specific mutation(s) and thus, impaired the function of Homogentisate-1, 2-dioxygenase (HGD), an essential enzyme for the catabolism of phenylalanine and tyrosine. Among… read more here.
Keywords: molecular characterization; mutations human; disease; characterization lethal ... See more keywords
Calmodulin Mutations in Human Disease
Sign Up to like & getrecommendations! Published in 2023 at "Channels"
DOI: 10.1080/19336950.2023.2165278
Abstract: ABSTRACT Calcium ions (Ca2+) are the basis of a unique and potent array of cellular responses. Calmodulin (CaM) is a small but vital protein that is able to rapidly transmit information about changes in Ca2+… read more here.
Keywords: calmodulin mutations; human disease; disease; mutations human ... See more keywords
MutHTP: mutations in human transmembrane proteins
Sign Up to like & getrecommendations! Published in 2018 at "Bioinformatics"
DOI: 10.1093/bioinformatics/bty054
Abstract: Motivation Existing sources of experimental mutation data do not consider the structural environment of amino acid substitutions and distinguish between soluble and membrane proteins. They also suffer from a number of further limitations, including data… read more here.
Keywords: human transmembrane; mutations human; muthtp mutations; transmembrane proteins ... See more keywords
Cautionary note on the use of Caenorhabditis elegans to study muscle phenotypes caused by mutations in the human MYH7 gene.
Sign Up to like & getrecommendations! Published in 2020 at "BioTechniques"
DOI: 10.2144/btn-2020-0012
Abstract: Mutations in the human MYH7 gene, encoding a slow skeletal muscle/β-cardiac myosin heavy chain, cause different types of myopathies. The nematode model Caenorhabditis elegans has frequently been employed to study the molecular and physiological consequences… read more here.
Keywords: human myh7; muscle; mutations human; caenorhabditis elegans ... See more keywords
PredDSMC: A predictor for driver synonymous mutations in human cancers
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2023.1164593
Abstract: Introduction: Driver mutations play a critical role in the occurrence and development of human cancers. Most studies have focused on missense mutations that function as drivers in cancer. However, accumulating experimental evidence indicates that synonymous… read more here.
Keywords: preddsmc predictor; driver synonymous; mutations human; synonymous mutations ... See more keywords
Understanding Mutations in Human SARS-CoV-2 Spike Glycoprotein: A Systematic Review & Meta-Analysis
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DOI: 10.3390/v15040856
Abstract: Genetic variant(s) of concern (VoC) of SARS-CoV-2 have been emerging worldwide due to mutations in the gene encoding spike glycoprotein. We performed comprehensive analyses of spike protein mutations in the significant variant clade of SARS-CoV-2,… read more here.
Keywords: spike glycoprotein; understanding mutations; mutations human; sars cov ... See more keywords