Why is "Point mutation" trending?

Search Interest Perspective

• CRISPR/Cas9-mediated gene correction of Wilson disease H1069Q point mutation in patient-specific induced pluripotent stem cells - Nature
• Molecular characterization of a new R1925X point mutation mouse model for dysferlinopathy - ScienceDirect.com
• A cytosine methyltransferase homologue is essential for repeat-induced point mutation in Neurospora crassa - PNAS
• Assessing data size requirements for training generalizable sequence-based TCR specificity models via pan-allelic MHC-I point-mutation ligandome evaluation - Nature
• Repeat-Induced Point Mutation and Gene Conversion Coinciding with Heterochromatin Shape the Genome of a Plant-Pathogenic Fungus - ASM Journals
• channel changes ion selectivity by modifying molecular sieving - PNAS
• Homology directed correction, a new pathway model for point mutation repair catalyzed by CRISPR-Cas - Nature
• Point mutation bias in SARS-CoV-2 variants results in increased ability to stimulate inflammatory responses - Nature
• A FAN1 point mutation associated with accelerated Huntington’s disease progression alters its PCNA-mediated assembly on DNA - Nature
• Inhibition of a K9/K36 demethylase by an H3.3 point mutation found in paediatric glioblastoma - Nature
• A point mutation in recC associated with subclonal replacement of carbapenem-resistant Klebsiella pneumoniae ST11 in China - Nature
• Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elements - Nature
• A point mutation in HIV-1 integrase redirects proviral integration into centromeric repeats - Nature
• The homozygous LRRK2.p.N1437D point mutation mouse is a novel model of parkinsonism | npj Parkinson's Disease - Nature
• A Mouse Model of Schnyder Corneal Dystrophy with the N100S Point Mutation - Nature
• Albino mice with the point mutation at the tyrosinase locus show high cholesterol diet-induced NASH susceptibility - Nature
• A recurrent point mutation in PRKCA is a hallmark of chordoid gliomas - Nature
• A cancer-associated point mutation disables the steric gate of human PrimPol - Nature
• Efficient correction of a deleterious point mutation in primary horse fibroblasts with CRISPR-Cas9 - Nature
• A single point mutation in class III ribonucleotide reductase promoter renders Pseudomonas aeruginosa PAO1 inefficient for anaerobic growth and infection - Nature
• Analyses of point mutation repair and allelic heterogeneity generated by CRISPR/Cas9 and single-stranded DNA oligonucleotides | Scientific Reports - Nature
• RET Fusion, Point Mutation, and Signaling - OncLive
• Correcting tyrosinaemia via a point mutation - Nature
• Reconstruction of thermotolerant yeast by one-point mutation identified through whole-genome analyses of adaptively-evolved strains - Nature
• A single point mutation expands the applicability of ostreolysin A6 in biomedicine - Nature
• In-depth comparison of somatic point mutation callers based on different tumor next-generation sequencing depth data - Nature
• 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
• Brunner syndrome caused by point mutation explained by multiscale simulation of enzyme reaction - Nature
• A point mutation in PTPRC is associated with the development of multiple sclerosis - Nature
• A single-point mutation in the rubella virus E1 glycoprotein promotes rescue of recombinant vesicular stomatitis virus - ASM Journals
• An RNA-cleaving threose nucleic acid enzyme capable of single point mutation discrimination - Nature
• A point mutation in AgrC determines cytotoxic or colonizing properties associated with phenotypic variants of ST22 MRSA strains - Nature
• Decreased tumorigenesis in mice with a Kras point mutation at C118 - Nature
• GEDpm-cg: Genome Editing Automated Design Platform for Point Mutation Construction in Corynebacterium glutamicum - Frontiers
• Single-point Mutation of an Histidine-aspartic Domain-containing Gene involving in Chloroplast Ribosome Biogenesis Leads to White Fine Stripe Leaf in Rice - Nature
• The H1047R point mutation in p110 alpha changes the morphology of human colon HCT116 cancer cells - Nature
• Alymphoplasia is caused by a point mutation in the mouse gene encoding Nf-κb-inducing kinase - Nature
• A point-mutation in the C-domain of CMP-sialic acid synthetase leads to lethality of medaka due to protein insolubility - Nature
• The second point mutation in PREPL : a case report and literature review - Nature
• A point mutation in Semaphorin 4A associates with defective endosomal sorting and causes retinal degeneration - Nature
• C-SH2 point mutation converts p85β regulatory subunit of phosphoinositide 3-kinase to an anti-aging gene - 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
• The point mutation UCH-L1 C152A protects primary neurons against cyclopentenone prostaglandin-induced cytotoxicity: implications for post-ischemic neuronal injury - Nature
• Familial Parkinson’s point mutation abolishes multiple system atrophy prion replication - PNAS
• Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan - Nature
• A Point Mutation in the Rpe65 Gene Causes Retinal Degeneration (rd12) in Mice - ARVO Journals
• A point mutation in KINDLIN3 ablates activation of three integrin subfamilies in humans - Nature
• A point mutation in the extracellular domain of KIT promotes tumorigenesis of mastcells via ligand-independent auto-dimerization - Nature
• Unraveling adaptive evolution: how a single point mutation affects the protein coregulation network - Nature
• The Y-chromosome point mutation rate in humans - Nature
• Transfer of a point mutation in Mycobacterium tuberculosis inhA resolves the target of isoniazid - Nature
• A single point mutation in ecdysone receptor leads to increased ligand specificity: Implications for gene switch applications - PNAS
• Gating and ion selectivity of Channelrhodopsins are critical for photo-activated orientation of Chlamydomonas as shown by in vivo point mutation - Nature
• A point mutation in the meiotic crossover formation gene HEI10 TFS2 leads to thermosensitive genic sterility in rice - Wiley Online Library
• A point mutation in CD28 distinguishes proliferative signals from survival signals - Nature
• Evolution of sequence specificity in a restriction endonuclease by a point mutation - PNAS
• DeNovoGear: de novo indel and point mutation discovery and phasing - Nature
• A Point Mutation in the XNP Gene, Associated with an ATR-X Phenotype without α-Thalassemia - Nature
• 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
• A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb–polysyndactyly syndrome - Nature
• An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y - Nature
• Implications of a novel point mutation of SIRT1 in T1DM - Nature
• Point mutation in the glycoprotein of lymphocytic choriomeningitis virus is necessary for receptor binding, dendritic cell infection, and long-term persistence - PNAS
• In vivo targeted repair of a point mutation in the canine dystrophin gene by a chimeric RNA/DNA oligonucleotide - Nature
• Maternal Immune Activation during Gestation Interacts with Disc1 Point Mutation to Exacerbate Schizophrenia-Related Behaviors in Mice - Journal of Neuroscience
• Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion - Nature
• Point mutation in the mouse glucocorticoid receptor preventing DNA binding impairs spatial memory - PNAS
• A point mutation of zebrafish c-cbl gene in the ring finger domain produces a phenotype mimicking human myeloproliferative disease - Nature
• Dominant point mutation in a tetraspanin gene associated with field-evolved resistance of cotton bollworm to transgenic Bt cotton - PNAS
• A novel davunetide (NAPVSIPQQ to NAPVSIPQE) point mutation in activity‐dependent neuroprotective protein (ADNP) causes a mild developmental syndrome - Gozes - 2023 - European Journal of Neuroscience - 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
• Rapid generation of mouse models with defined point mutations by the CRISPR/Cas9 system - Nature
• Point mutation in neuroligin found in brothers with autism - The Transmitter
• Genome-Wide Analyses of Repeat-Induced Point Mutations in the Ascomycota - Frontiers
• A MERRF/MELAS Overlap Syndrome Associated with a New Point Mutation in the Mitochondrial DNA tRNA - Nature
• Spongiform Encephalopathy in Transgenic Mice Expressing a Point Mutation in the β2–α2 Loop of the Prion Protein - Journal of Neuroscience
• Point mutation in an AMPA receptor gene rescues lethality in mice deficient in the RNA-editing enzyme ADAR2 - Nature
• A distinct expression pattern and point mutation of c-kit in papillary renal cell carcinomas - Nature
• Mechanistic model of point mutation generation during SHM (IMAGE) - EurekAlert!
• A novel MPL point mutation resulting in thrombopoietin-independent activation - Nature
• A protein-targeting strategy used to develop a selective inhibitor of the E17K point mutation in the PH domain of Akt1 - Nature
• A Point Mutation in the SH2 Domain of Bruton's Tyrosine Kinase in Atypical X-Linked Agammaglobulinemia - The New England Journal of Medicine
• The Ec-NhaA antiporter switches from antagonistic to synergistic antiport upon a single 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
• Photoperiod- and thermo-sensitive genic male sterility in rice are caused by a point mutation in a novel noncoding RNA that produces a small RNA | Cell Research - Nature
• Clinical Heterogeneity Associated with the Mitochondrial DNA T8993C Point Mutation - Nature
• Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene - The New England Journal of Medicine
• A Point Mutation in the SH2 Domain of Bruton's Tyrosine Kinase in Atypical X-Linked Agammaglobulinemia - The New England Journal of Medicine
• Prevalence and clinical impact of Met Y1253D-activating point mutation in radiotherapy-treated squamous cell cancer of the oropharynx - Nature
• Gene Editing Institute develops new system for precise ‘surgery’ on the human genome - ChristianaCare News
• High-Level Azithromycin Resistance Occurs in Neisseria gonorrhoeae as a Result of a Single Point Mutation in the 23S rRNA Genes - ASM Journals
• A Single Point Mutation In The Nucleocapsid Protein Increases Covid Virus Infectivity By More Than 100 Times - Forbes
• Point mutation in DNA-binding domain of HPV-2 E2 studied - Chromatography Today
• Mosaic DNA Imports with Interspersions of Recipient Sequence after Natural Transformation of Helicobacter pylori - PLOS
• Identification of a series of CCK-2 receptor nonpeptide agonists: Sensitivity to stereochemistry and a receptor point mutation - PNAS
• Conversion of a transmembrane to a water-soluble protein complex by a single point mutation - Nature
• A genotyping method combining primer competition PCR with HRM analysis to identify point mutations in Duchenne animal models - Nature
• Sickle Cell Anemia: Bad Luck and Simple Chemistry - American Council on Science and Health