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point mutation

Synonyms

Noun

1. gene mutation

2. mutation, genetic mutation, chromosomal mutation

Usage
CRISPR/Cas9-mediated gene correction of Wilson disease H1069Q point mutation in patient-specific induced pluripotent stem cells - Nature
The C-terminus of Rad9 is required for the phosphorylation of Cds1, but not Mrc1. - PLOS
Molecular characterization of a new R1925X point mutation mouse model for dysferlinopathy - ScienceDirect.com
New stem cell lines open door to studying ultra-rare FA mutation - Friedreich's Ataxia News
EGFR and Lung Cancer - American Lung Association
Programmable fluorescent aptamer-based RNA switches for rapid identification of point mutations - Nature
Repeat-Induced Point Mutation and Other Genome Defense Mechanisms in Fungi | Microbiology Spectrum - ASM Journals
Genetic determinants and genomic consequences of non-leukemogenic somatic point mutations - Nature
Assessing data size requirements for training generalizable sequence-based TCR specificity models via pan-allelic MHC-I point-mutation ligandome evaluation - Nature
Saturation mutagenesis identifies activating and resistance-inducing FGFR kinase domain mutations - Nature
A point mutation in recC associated with subclonal replacement of carbapenem-resistant Klebsiella pneumoniae ST11 in China - Nature
A FAN1 point mutation associated with accelerated Huntington’s disease progression alters its PCNA-mediated assembly on DNA - Nature
Homology directed correction, a new pathway model for point mutation repair catalyzed by CRISPR-Cas - Nature
Inhibition of a K9/K36 demethylase by an H3.3 point mutation found in paediatric glioblastoma - Nature
The homozygous LRRK2.p.N1437D point mutation mouse is a novel model of parkinsonism | npj Parkinson's Disease - Nature
Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elements - Nature
Point mutation bias in SARS-CoV-2 variants results in increased ability to stimulate inflammatory responses - Nature
A point mutation in HIV-1 integrase redirects proviral integration into centromeric repeats - Nature
Albino mice with the point mutation at the tyrosinase locus show high cholesterol diet-induced NASH susceptibility - Nature
Efficient correction of a deleterious point mutation in primary horse fibroblasts with CRISPR-Cas9 - Nature
A mitochondrial DNA tRNAVal point mutation associated with adult-onset Leigh syndrome - Neurology® Journals
iPS cell generation-associated point mutations include many C > T substitutions via different cytosine modification mechanisms - Nature
Point mutations that boost aromatic amino acid production and CO2 assimilation in plants - Science | AAAS
Point mutations of the mitochondrial chaperone TRAP1 affect its functions and pro-neoplastic activity - Nature
Extreme purifying selection against point mutations in the human genome - Nature
A single point mutation in class III ribonucleotide reductase promoter renders Pseudomonas aeruginosa PAO1 inefficient for anaerobic growth and infection - Nature
A single point mutation expands the applicability of ostreolysin A6 in biomedicine - Nature
A recurrent point mutation in PRKCA is a hallmark of chordoid gliomas - Nature
Clinical Effect of Point Mutations in Myelodysplastic Syndromes - The New England Journal of Medicine
In-depth comparison of somatic point mutation callers based on different tumor next-generation sequencing depth data - Nature
channel changes ion selectivity by modifying molecular sieving - PNAS
A point mutation in AgrC determines cytotoxic or colonizing properties associated with phenotypic variants of ST22 MRSA strains - Nature
Achieving single nucleotide sensitivity in direct hybridization genome imaging - Nature
An RNA-cleaving threose nucleic acid enzyme capable of single point mutation discrimination - Nature
Reconstruction of thermotolerant yeast by one-point mutation identified through whole-genome analyses of adaptively-evolved strains - Nature
A point-mutation in the C-domain of CMP-sialic acid synthetase leads to lethality of medaka due to protein insolubility - Nature
Gating and ion selectivity of Channelrhodopsins are critical for photo-activated orientation of Chlamydomonas as shown by in vivo point mutation - Nature
Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan - Nature
Single-point Mutation of an Histidine-aspartic Domain-containing Gene involving in Chloroplast Ribosome Biogenesis Leads to White Fine Stripe Leaf in Rice - Nature
Got mutation? ‘Base editors’ fix genomes one nucleotide at a time - Nature
Repeat-Induced Point Mutation and Gene Conversion Coinciding with Heterochromatin Shape the Genome of a Plant-Pathogenic Fungus - ASM Journals
New experimental therapy targets rare FA mutation to restore frataxin levels - Friedreich's Ataxia News
A method to build extended sequence context models of point mutations and indels - Nature
Brunner syndrome caused by point mutation explained by multiscale simulation of enzyme reaction - Nature
Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene - Neurology® Journals
Strategic single point mutation yields a solvent- and salt-stable transaminase from Virgibacillus sp. in soluble form - Nature
A point mutation in VIG1 boosts development and chilling tolerance in rice - Nature
A cancer-associated point mutation disables the steric gate of human PrimPol - Nature
In vivo RNA editing of point mutations via RNA-guided adenosine deaminases - Nature
A novel PMP22 point mutation causing HNPP phenotype - Neurology® Journals
The power of point mutations - Nature
Two point mutations in protocadherin-1 disrupt hantavirus recognition and afford protection against lethal infection - Nature
Genome-wide and high-density CRISPR-Cas9 screens identify point mutations in PARP1 causing PARP inhibitor resistance - Nature
Evolution of sequence specificity in a restriction endonuclease by a point mutation - PNAS
Dominant point mutation in a tetraspanin gene associated with field-evolved resistance of cotton bollworm to transgenic Bt cotton - PNAS
Mutations affecting the N-terminal domains of SHANK3 point to different pathomechanisms in neurodevelopmental disorders - Nature
A high-efficiency method for site-directed mutagenesis of large plasmids based on large DNA fragment amplification and recombinational ligation - Nature
RET Fusion, Point Mutation, and Signaling - OncLive
Stability Oracle: a structure-based graph-transformer framework for identifying stabilizing mutations - Nature
A single point mutation in ecdysone receptor leads to increased ligand specificity: Implications for gene switch applications - PNAS
Epidemiological trends, antifungal drug susceptibility and SQLE point mutations in etiologic species of human dermatophytosis in Al-Diwaneyah, Iraq - Nature
Multiscale simulations reveal the role of PcrA helicase in protecting against spontaneous point mutations in DNA - Nature
Regenerative phenotype in mice with a point mutation in transforming growth factor β type I receptor ( TGFBR1 - PNAS
AQP4-A25Q Point Mutation in Mice Depolymerizes Orthogonal Arrays of Particles and Decreases Polarized Expression of AQP4 Protein in Astrocytic Endfeet at the Blood–Brain Barrier - Journal of Neuroscience
Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation - Neurology® Journals
The H1047R point mutation in p110 alpha changes the morphology of human colon HCT116 cancer cells - Nature
Single-point mutated lanmodulin as a high-performance MRI contrast agent for vascular and kidney imaging - Nature
A point mutation in PTPRC is associated with the development of multiple sclerosis - Nature
A Single Point Mutation In The Nucleocapsid Protein Increases Covid Virus Infectivity By More Than 100 Times - Forbes
SARS-CoV-2 Point Mutation and Deletion Spectra and Their Association with Different Disease Outcomes - ASM Journals
A high efficiency precision genome editing method with CRISPR in iPSCs | Scientific Reports - Nature
Atypical Friedreich ataxia phenotype associated with a novel missense mutation in the X25 gene - Neurology® Journals
Familial Parkinson’s point mutation abolishes multiple system atrophy prion replication - PNAS
Cancer associated talin point mutations disorganise cell adhesion and migration - Nature
Ultra-sensitive monitoring of leukemia patients using superRCA mutation detection assays - Nature
Analyses of point mutation repair and allelic heterogeneity generated by CRISPR/Cas9 and single-stranded DNA oligonucleotides | Scientific Reports - Nature
A point mutation in Semaphorin 4A associates with defective endosomal sorting and causes retinal degeneration - Nature
Decreased tumorigenesis in mice with a Kras point mutation at C118 - Nature
The point mutation UCH-L1 C152A protects primary neurons against cyclopentenone prostaglandin-induced cytotoxicity: implications for post-ischemic neuronal injury - Nature
Zero-shot prediction of mutation effects with multimodal deep representation learning guides protein engineering - Nature
Graph masked self-distillation learning for prediction of mutation impact on protein–protein interactions - Nature
Alymphoplasia is caused by a point mutation in the mouse gene encoding Nf-κb-inducing kinase - Nature
Prime editor-mediated correction of a pathogenic mutation in purebred dogs - Nature
A single-point mutation in the rubella virus E1 glycoprotein promotes rescue of recombinant vesicular stomatitis virus - ASM Journals
Correcting tyrosinaemia via a point mutation - Nature
Investigating the novel-binding site of RPA2 on Menin and predicting the effect of point mutation of Menin through protein–protein interactions - Nature
Glucocorticoid resistance conferring mutation in the C-terminus of GR alters the receptor conformational dynamics - Nature
Robust RNA-based in situ mutation detection delineates colorectal cancer subclonal evolution - Nature
Insertion-sequence-mediated mutations both promote and constrain evolvability during a long-term experiment with bacteria - Nature
Engineers Develop Genetic Testing Device to Detect Rare Mutations - Rutgers University
Point mutation in AML1 disrupts subnuclear targeting, prevents myeloid differentiation, and effects a transformation-like phenotype - PNAS
The Y-chromosome point mutation rate in humans - Nature
A point mutation in the extracellular domain of KIT promotes tumorigenesis of mastcells via ligand-independent auto-dimerization - Nature
Coproporphyrin Excretion and Low Thiol Levels Caused by Point Mutation in the Rhodobacter sphaeroides S -Adenosylmethionine Synthetase Gene - ASM Journals
Familial Parkinson’s point mutation abolishes multiple system atrophy prion replication - PNAS
A protein-targeting strategy used to develop a selective inhibitor of the E17K point mutation in the PH domain of Akt1 - Nature
Mutational landscape and significance across 12 major cancer types - Nature
A point mutation in the meiotic crossover formation gene HEI10 TFS2 leads to thermosensitive genic sterility in rice - Wiley Online Library
Functional and developmental changes in the inner hair cell ribbon synapses caused by Myosin VI knockout and deafness-inducing point mutation - Nature
Point mutation in the mouse glucocorticoid receptor preventing DNA binding impairs spatial memory - PNAS
Foreign Language Equivalents
Foreign Language Equivalents of 'point mutation'
Language Equivalent   Language Equivalent
French    Spanish
Misspellings - Typos
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Words Starting with Letter - 'A'
a a battery a billion
a bit a bit much a capella singing
a cappella singing a couple of a few
a fortiori a good deal a great deal
a horizon a hundred a hundred and one
a hundred thousand a hundred times a kempis
a la carte a la mode a level
a little a lot a million
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