Results 1 to 10 of about 1,471 (212)

Case Report: A Synonymous Mutation in NF1 Located at the Non-canonical Splicing Site Leading to Exon 45 Skipping

open access: yesFrontiers in Genetics, 2021
Synonymous mutations are generally considered non-pathogenic because it did not alter the amino acids of the encoded protein. Publications of the associations between synonymous mutations and abnormal splicing have increased recently, however, not much ...
Pengzhen Jin   +2 more
exaly   +3 more sources

A synonymous mutation in IGF-1 impacts the transcription and translation process of gene expression

open access: yesMolecular Therapy - Nucleic Acids, 2021
Insulin-like growth factor 1 (IGF-1) is considered to be a crucial gene in the animal development of bone and body size. In this study, a unique synonymous mutation (c.258 A > G) of the IGF-1 gene was modified with an adenine base editor to observe the ...
Linlin Hao, C L Wang
exaly   +3 more sources

PredDSMC: A predictor for driver synonymous mutations in human cancers

open access: yesFrontiers 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   +3 more sources

An analysis of mutational signatures of synonymous mutations across 15 cancer types [PDF]

open access: yesBMC Medical Genetics, 2019
Background Synonymous mutations have been identified to play important roles in cancer development, although they do not modify the protein sequences.
Yannan Bin   +4 more
doaj   +3 more sources

A synonymous mutation of rs1137070 cause the mice Maoa gene transcription and translation to decrease

open access: yesFrontiers in Molecular Neuroscience
The Monoamine Oxidase-A (MAOA) EcoRV polymorphism (rs1137070) is a unique synonymous mutation (c.1409 T > C) within the MAOA gene, which plays a crucial role in Maoa gene expression and function.
Hongwei Hou, Fanglin Liu, Huan Chen
exaly   +3 more sources

Mutation rates and selection on synonymous mutations in SARS-CoV-2 [PDF]

open access: yesGenome Biology and Evolution, 2021
A bstract The COVID-19 pandemic has seen an unprecedented response from the sequencing community. Leveraging the sequence data from more than 140,000 SARS-CoV-2 genomes, we study mutation rates and selective pressures affecting the virus.
Nicola De Maio   +5 more
openaire   +4 more sources

Unveiling of Evolution Pattern for HY12 Enterovirus Quasispecies and Pathogenicity Alteration

open access: yesViruses, 2021
Enterovirus, like the majority of RNA viruses, evolves to survive the changeable environments by a variety of strategies. Here, we showed that HY12 virus evolved to alter its characteristics and pathogenicity by employing a non-synonymous mutation ...
Xiaoran Chang   +7 more
doaj   +1 more source

Synonymous mutations that regulate translation speed might play a non-negligible role in liver cancer development

open access: yesBMC Cancer, 2021
Background Synonymous mutations do not change the protein sequences. Automatically, they have been regarded as neutral events and are ignored in the mutation-based cancer studies.
Qun Li   +5 more
doaj   +1 more source

Compensating the Fitness Costs of Synonymous Mutations [PDF]

open access: yesMolecular Biology and Evolution, 2016
Synonymous mutations do not change the sequence of the polypeptide but they may still influence fitness. We investigated in Salmonella enterica how four synonymous mutations in the rpsT gene (encoding ribosomal protein S20) reduce fitness (i.e., growth rate) and the mechanisms by which this cost can be genetically compensated.
Knöppel, Anna   +2 more
openaire   +3 more sources

Genomic Variation Prediction: A Summary From Different Views

open access: yesFrontiers in Cell and Developmental Biology, 2021
Structural variations in the genome are closely related to human health and the occurrence and development of various diseases. To understand the mechanisms of diseases, find pathogenic targets, and carry out personalized precision medicine, it is ...
Xiuchun Lin
doaj   +1 more source

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