Results 41 to 50 of about 771,131 (233)
BMC Cancer, 2019 Background Nonsynonymous mutations change the protein sequences and are frequently subjected to natural selection. The same goes for nonsense mutations that introduce pre-mature stop codons into CDSs (coding sequences). Synonymous mutations, however, are
Duan Chu, Lai Wei
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c‐Rel–dependent Chk2 signaling regulates the DNA damage response limiting hepatocarcinogenesis
Hepatology, EarlyView., 2022 In response to genotoxic injury, c‐Rel upregulates ATM‐Chk2‐p53 pathway DNA damage proteins to limiting hepatocarcinogenesis. Abstract Background and Aims Hepatocellular carcinoma (HCC) is a leading cause of cancer‐related death. The NF‐κB transcription factor family subunit c‐Rel is typically protumorigenic; however, it has recently been reported as a
Jack Leslie +17 more
wiley +1 more source
Molecular Genetics & Genomic Medicine, 2021 Background Classical Ehlers‐Danlos syndrome (cEDS) is a heterogeneous connective tissue disorder that mainly results from the germline mutation of COL5A1 and COL5A2.
Na Ma +10 more
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RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Mutations as Missing Data: Inferences on the Ages and Distributions of Nonsynonymous and Synonymous Mutations [PDF]
, 2000 38 pages, 1 article*Mutations as Missing Data: Inferences on the Ages and Distributions of Nonsynonymous and Synonymous Mutations* (Nielsen, Rasmus) 38 ...
Cornell University. Dept. of Biological Statistics and Computational Biology. +3 more
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Effect of RHAG variants identified in Chinese population on RHAG mRNA splicing in vitro
Zhongguo shuxue zazhi, 2023 Objective To study the effect of RHAG variants identified in Chinese population on mRNA splicing by minigene splicing assay(MSA) in vitro. Methods The pSplicePOLR2G minigene expression plasmids were constructed for 10 RHAG mutations with relatively high ...
Shuangshuang JIA +5 more
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How do synonymous mutations affect fitness? [PDF]
, 2007 Contains fulltext : 52297.pdf (Publisher’s version ) (Closed access)While it has often been assumed that, in humans, synonymous mutations would have no effect on fitness, let alone cause disease, this position has been questioned over ...
Hurst, L.D., Parmley, J.L.
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Organic Materials of Tomorrow: Horizons of Artificial Intelligence
Advanced Materials, EarlyView.This review examines machine learning techniques accelerating the discovery of organic semiconductors by linking molecular structure to properties. Key methods include graph neural networks, generative models, and active learning. Applications to organic photovoltaics demonstrate practical impact.
Harold Mena +3 more
wiley +1 more source
Evolutionary adaptation of the amino acid and codon usage of the mosquito sodium channel following insecticide selection in the field mosquitoes. [PDF]
PLoS ONE, 2012 Target site insensitivity resulting from point mutations within the voltage-gated sodium channel of the insect nervous system is known to be of primary importance in the development of resistance to pyrethroid insecticides.
Qiang Xu +6 more
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