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Mutational analysis of catalytic site domain of CCHFV L RNA segment.
Publication Type: Academic Journal
Source(s): Journal of molecular modeling [J Mol Model] 2023 Mar 06; Vol. 29 (4), pp. 88. Date of Electronic Publication: 2023 Mar 06.
Abstract: Introduction: Crimean-Congo haemorrhagic fever virus (CCHFV) has tripartite RNA genome and is endemic in various countries of Asia, Africa and Europe.Method: The present study is focused on mutation profiling of CCHFV L segment and phylogenetic cluster...
Charge-changing point mutations in the E protein of tick-borne encephalitis virus.
Publication Type: Academic Journal
Source(s): Archives of virology [Arch Virol] 2023 Mar 05; Vol. 168 (3), pp. 100. Date of Electronic Publication: 2023 Mar 05.
Abstract: Introduction of point mutations is one of the forces enabling arboviruses to rapidly adapt in a changing environment. The influence of these mutations on the properties of the virus is not always obvious. In this study, we attempted to clarify this inf...
Polymorphic protein phase transitions driven by surface anisotropy.
Publication Type: Academic Journal
Source(s): The Journal of chemical physics [J Chem Phys] 2023 Jan 07; Vol. 158 (1), pp. 014905.
Abstract: Phase transitions of proteins are strongly influenced by surface chemical modifications or mutations. Human γD-crystallin (HGD) single-mutants have been extensively studied because they are associated with the onset of juvenile cataract. However, they ...
Adaptation dynamics between copy-number and point mutations.
Publication Type: Academic Journal
Source(s): ELife [Elife] 2022 Dec 22; Vol. 11. Date of Electronic Publication: 2022 Dec 22.
Abstract: Together, copy-number and point mutations form the basis for most evolutionary novelty, through the process of gene duplication and divergence. While a plethora of genomic data reveals the long-term fate of diverging coding sequences and their cis -reg...
[Silent - but not neutral!]
Publication Type: Academic Journal
Source(s): Medecine sciences : M/S [Med Sci (Paris)] 2022 Oct; Vol. 38 (10), pp. 839-841. Date of Electronic Publication: 2022 Oct 11.
Abstract: An ingenious system for generating thousands of point mutations in yeast genes and measuring their effect on fitness shows convincingly that, for the chosen subset of representative non-essential genes, silent mutations have as much effect on fitness a...
A method to build extended sequence context models of point mutations and indels.
Publication Type: Academic Journal
Source(s): Nature communications [Nat Commun] 2022 Dec 22; Vol. 13 (1), pp. 7884. Date of Electronic Publication: 2022 Dec 22.
Abstract: The mutation rate of a specific position in the human genome depends on the sequence context surrounding it. Modeling the mutation rate by estimating a rate for each possible k-mer, however, only works for small values of k since the data becomes too s...
Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elements.
Publication Type: Academic Journal
Source(s): Nature genetics [Nat Genet] 2022 Oct; Vol. 54 (10), pp. 1564-1571. Date of Electronic Publication: 2022 Sep 26.
Abstract: Accurate somatic mutation detection from single-cell DNA sequencing is challenging due to amplification-related artifacts. To reduce this artifact burden, an improved amplification technique, primary template-directed amplification (PTA), was recently ...
The point mutation of the cholesterol trafficking membrane protein NPC1 may affect its proper function in more than a single step: Molecular dynamics simulation study.
Publication Type: Academic Journal
Source(s): Computational biology and chemistry [Comput Biol Chem] 2022 Aug; Vol. 99, pp. 107725. Date of Electronic Publication: 2022 Jul 09.
Abstract: The Niemann-Pick type C1 (NPC1) protein is one of the key players of cholesterol trafficking from the lysosome and its function is closely coupled with the Niemann-Pick type C2 (NPC2) protein. The dysfunction of one of these proteins can cause problems...
Comparison of the efficiency and precision of Base editor and CRISPR/Cas9 for inducing defined point mutation (S395F) in ovine embryos.
Publication Type: Academic Journal
Source(s): Reproduction in domestic animals = Zuchthygiene [Reprod Domest Anim] 2022 Aug; Vol. 57 (8), pp. 829-838. Date of Electronic Publication: 2022 May 01.
Abstract: Cytosine base editors (CBEs) and CRISPR/Cas9-mediated HDR method both have the ability to introduce nucleotide substitution into genomes, which exhibit great potential for improving economically important traits in livestock species. The FecG H mutatio...
Pan-cancer integrative analysis of whole-genome De novo somatic point mutations reveals 17 cancer types.
Publication Type: Academic Journal
Source(s): BMC bioinformatics [BMC Bioinformatics] 2022 Jul 25; Vol. 23 (1), pp. 298. Date of Electronic Publication: 2022 Jul 25.
Abstract: Background: The advent of high throughput sequencing has enabled researchers to systematically evaluate the genetic variations in cancer, identifying many cancer-associated genes. Although cancers in the same tissue are widely categorized in the same g...