Results 11 to 20 of about 660,576 (241)
De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity [PDF]
Scientific Reports, 2017 Here we report de novo non-synonymous single-nucleotide variants (SNVs) by conducting whole exome sequencing of 18 trios consisting of Japanese patients with sporadic schizophrenia and their parents.
Akira Nishi +18 more
doaj +3 more sources
A multispecies approach for comparing sequence evolution of X-linked and autosomal sites in Drosophila [PDF]
, 2008 Population genetics models show that, under certain conditions, the X chromosome is expected to be under more efficient selection than the autosomes.
Vicoso, Beatriz +2 more
core +4 more sources
PredDSMC: A predictor for driver synonymous mutations in human cancers
Frontiers in Genetics, 2023 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.
Lihua Wang +4 more
doaj +1 more source
BMC Medical Genetics, 2020 Background von Hippel-Lindau (VHL) disease is a familial neoplasia syndrome that results from the germline mutation of VHL. Pathogenic VHL mutations include deletion, frameshift, nonsense and missense mutations.
Fang Liu +7 more
doaj +1 more source
Reduced efficacy of selection in regions of the Drosophila genome that lack crossing over [PDF]
, 2007 The recombinational environment is predicted to influence patterns of protein sequence evolution through the effects of Hill-Robertson interference among linked sites subject to selection.
Haddrill, Penelope R +3 more
core +4 more sources
Frontiers in Molecular Neuroscience, 2023 BackgroundThe endoplasmic reticulum-membrane protein complex (EMC) as a molecular chaperone is required for the proper synthesis, folding and traffic of several transmembrane proteins.
Ge Wang +3 more
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Somatic synonymous mutations in regulatory elements contribute to the genetic aetiology of melanoma
BMC Medical Genomics, 2020 Background Non-synonymous mutations altering tumor suppressor genes and oncogenes are widely studied. However, synonymous mutations, which do not alter the protein sequence, are rarely investigated in melanoma genome studies. Methods We explored the role
Di Zhang, Junfeng Xia
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Synonymous genes explore different evolutionary landscapes. [PDF]
PLoS Genetics, 2008 The evolutionary potential of a gene is constrained not only by the amino acid sequence of its product, but by its DNA sequence as well. The topology of the genetic code is such that half of the amino acids exhibit synonymous codons that can reach ...
Guillaume Cambray, Didier Mazel
doaj +1 more source
Bayesian Estimation of Nonsynonymous/Synonymous Rate Ratios for Pairwise Sequence Comparisons [PDF]
, 2014 The nonsynonymous/synonymous rate ratio (ω = dN/dS) is an important measure of the mode and strength of natural selection acting on nonsynonymous mutations in protein-coding genes. The simplest such analysis is the estimation of the dN/dS ratio using two
dos Reis, M, Yang, Z, Angelis, K
core +1 more source
Mutation testing on an object-oriented framework: An experience report [PDF]
, 2011 This is the preprint version of the article - Copyright @ 2011 ElsevierContext The increasing presence of Object-Oriented (OO) programs in industrial systems is progressively drawing the attention of mutation researchers toward this paradigm.
Sergio Segura +11 more
core +1 more source