Keywords: جهش نقطه; SUOX; sulfite oxidase; Compound heterozygote; Point mutation; Missense mutation; Transition; Transversion; Fibroblasts; Sulfite oxidase activity;
مقالات ISI جهش نقطه (ترجمه نشده)
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Keywords: جهش نقطه; Staphylococcus aureus; Antimicrobial resistance; Resistance mechanisms; Point mutation;
Keywords: جهش نقطه; Genome editing; CRISPR/CAS9; Targeting vector; Reversible knockout; Constitutive knockout; Point mutation;
Keywords: جهش نقطه; Helicobacter pylori; Clarithromycin resistance; Point mutation; Iran;
Keywords: جهش نقطه; Aneurysmal bone cysts; Giant cell tumor of bone; Chondroblastoma; H3F3A; H3F3B; Point mutation;
Keywords: جهش نقطه; Enzyme-free; Microbead-assisted; Toehold-mediated strand displacement; Point mutation
Keywords: جهش نقطه; Point mutation; K-ras gene; Exponential strand displacement amplification; Surface enhanced Raman spectroscopy
Keywords: جهش نقطه; Selection; Point mutation; Gene duplication; Gene amplification; Gene disruption; Transposable element;
Keywords: جهش نقطه; Surface plasmon resonance biosensor; Polymerization extension reaction; Point mutation; BRCA-1; Breast cancer;
Keywords: جهش نقطه; Mitochondrial DNA (mtDNA); MELAS; Kearns–Sayre syndrome; Point mutation; Myoclonus epilepsy
Structure-function studies of prothrombin Amrita, a dysfunctional prothrombin characterized by point mutation at Arg553â¯ââ¯Gln
Keywords: جهش نقطه; Molecular modeling; Molecular dynamics; Prothrombin; Point mutation; DNA sequencing;
Detection of three common mutations causing β-thalassemia by using a closed-tube multiplex PCR
Keywords: جهش نقطه; Thalassemia; Point mutation; PCR; Molecular diagnosis;
The P20R mutation of αB-crystallin diminishes its anti-apoptotic activity in human lens epithelial cells
Keywords: جهش نقطه; αB-crystallin; Point mutation; Anti-apoptosis;
Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex
Keywords: جهش نقطه; Tuberous sclerosis complex; TSC1; TSC2; Point mutation; Diagnosis;
Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype
Keywords: جهش نقطه; Peroxisome biogenesis disorder; Peroxisome biogenesis factor 10 (PEX10); Compound heterozygote; Point mutation; Cerebellar ataxia; Zellweger syndrome; AFP; alpha fetoprotein; BWA; Burrows Wheeler Aligner; DHA; docosahexaenoic acid; dma; dimethyl acetal; F
Resistance monitoring of Chilo suppressalis (Walker) (Lepidoptera: Crambidae) to chlorantraniliprole in eight field populations from east and central China
Keywords: جهش نقطه; Striped rice borer; Resistance monitoring; Bioassay; Chlorantraniliprole; Detoxification enzyme; Point mutation;
Original ArticleA novel method to quantify base substitution mutations at the 10â6 per bp level in DNA samples
Keywords: جهش نقطه; Point mutation; Next-generation sequencing; Target sequencing; Neutral theory;
Both point mutations and low expression levels of the nicotinic acetylcholine receptor β1 subunit are associated with imidacloprid resistance in an Aphis gossypii (Glover) population from a Bt cotton field in China
Keywords: جهش نقطه; Imidacloprid resistance; Nicotinic acetylcholine receptor β1 subunit; Point mutation; Expression reduction; Aphis gossypii;
ReviewDrug resistance in ALK-positiveNon-small cell lungcancer patients
Keywords: جهش نقطه; ALK; Point mutation; Crizotinib; Ceritinib; Alectinib; Lorlatinib;
Error thresholds for RNA replication in the presence of both point mutations and premature termination errors
Keywords: جهش نقطه; RNA world; Polymerase; Ribozyme; Error threshold; Termination error; Point mutation; Parasite;
A point mutation in the extracellular domain of CD4 completely abolishes CD4 T cell development in C57BL/6 mouse
Keywords: جهش نقطه; CD4; T cell; Enu; Point mutation; Adoptive transfer;
ReviewDiscriminating RNA variants with single-molecule allele-specific FISH
Keywords: جهش نقطه; FISH; Fluorescence in situ hybridization; smFISH; single-molecule FISH; SNP; single nucleotide polymorphism; DM1; myotonic dystrophy type 1; Allele-specific; Point mutation; Splicing; Fused gene; Fluorescence in situ hybridization; Single molecule detecti
Continuing evolution of canine parvovirus in China: Isolation of novel variants with an Ala5Gly mutation in the VP2 protein
Keywords: جهش نقطه; Canine parvovirus; Type 2c; Virus isolation; Point mutation; VP2 gene evolution;
Modeling and experimental assessment of a buried Leu-Ile mutation in dengue envelope domain III
Keywords: جهش نقطه; Point mutation; Molecular modeling; Side-chain rotamers; X-ray crystal structure; Thermal stability; DEN; Dengue; ED3; Envelope protein domain III; DEN3 ED3 and DEN4 ED3; ED3s of wild type DEN3 and DEN4 serotypes; HPLC; High Performance Liquid Chromatogra
Correction of point mutations at the endogenous locus of the dihydrofolate reductase gene using repair-PolyPurine Reverse Hoogsteen hairpins in mammalian cells
Keywords: جهش نقطه; Gene correction; Point mutation; PPRH; dhfr; Mammalian cells;
Research paperStructural constraints-based evaluation of immunogenic avirulent toxins from Clostridium botulinum C2 and C3 toxins as subunit vaccines
Keywords: جهش نقطه; Point mutation; Fold rate; Molecular dynamic simulation; ADP-ribosyltransferase; Virulence; Clostridium botulinum; Immunotoxins; C3 toxin; Molecular docking; Structural evolution; C2 toxin;
Investigation of the dominant positive effect of porcine farnesoid X receptor (FXR) splice variant 1
Keywords: جهش نقطه; CAR; constitutive androstane receptor; PXR; pregnane X receptor; FXR; farnesoid X receptor; CYP3A4; cytochrome P450 3A4; SULT2A1; hydroxysteroid sulfotransferase; UGT2B4; UDP-glucuronosyltransferase 2B4; GRβ; glucocorticoid receptor β; ERE; estrogen res
E84G mutation in dihydrofolate reductase from drug resistant strains of Mycobacterium tuberculosis (Mumbai, India) leads to increased interaction with Trimethoprim
Keywords: جهش نقطه; Mycobacterium tuberculosis; Dihydrofolate reductase; Point mutation; Molecular docking; Enzyme assay; Trimethoprim
A point mutation in the acetylcholinesterase-1 gene is associated with chlorpyrifos resistance in the plant bug Apolygus lucorum
Keywords: جهش نقطه; Apolygus lucorum; Insecticide resistance; Acetylcholinesterase; Point mutation;
Novel multifunction-integrated molecular beacon for the amplification detection of DNA hybridization based on primer/template-free isothermal polymerization
Keywords: جهش نقطه; Multifunctional integrated MB (MI-MB); Point mutation; Polymerization amplification
One base pair deletion and high rate of evolution: Keys to viral accommodation of Australian Penaeus stylirostris densovirus
Keywords: جهش نقطه; Penaeus stylirostris densovirus; Viral accommodation; Point mutation; Viral Evolution; IHHNV
Nucleotide substitutions revealing specific functions of Polycomb group genes
Keywords: جهش نقطه; Polycomb-group; Epigenetic repression; Repressor complexes; Point mutation; Homeotic regulation;
Determination of acaricide resistance allele frequencies in field populations of Tetranychus urticae using quantitative sequencing
Keywords: جهش نقطه; Quantitative sequencing; Point mutation; Resistance monitoring; Tetranychus urticae;
Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis
Keywords: جهش نقطه; Friedreich ataxia; Point mutation; Disease progression; Hemochromatosis; Genetic counseling;
Frequent mutations in NOTCH1 ligand-binding regions in Japanese oral squamous cell carcinoma
Keywords: جهش نقطه; OSCC; oral squamous cell carcinoma; HNSCC; head and neck squamous cell carcinoma; NECD; NOTCH extracellular domain; NICD; NOTCH intracellular domain; TALL; T-cell acute lymphoblastic leukemia; EGF; epidermal growth factor; T stage; tumor stage; N stage; l
Molecular simulation investigation on the interaction between barrier-to-autointegration factor dimer or its Gly25Glu mutant and LEM domain of emerin
Keywords: جهش نقطه; Barrier-to-autointegration factor dimer (BAF2); Molecular dynamics; Emerin; LEM domain; Point mutation
The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice
Keywords: جهش نقطه; Cx; Connexin; Cx30A88V; substitution of the amino acid residue alanine to valine at position 88 of Cx30; SG; sebaceous gland; ABR; Auditory Brainstem Responses; DPOAE; Distortion Product Otoacoustic Emissions; NLS; Nuclear Localization Signal; IRES; Inter
Regional susceptibilities to 12 insecticides of melon and cotton aphid, Aphis gossypii (Hemiptera: Aphididae) and a point mutation associated with imidacloprid resistance
Keywords: جهش نقطه; Aphis gossypii; Imidacloprid resistance; Nicotinic acetylcholine receptor beta 1; Point mutation
Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients
Keywords: جهش نقطه; Point mutation; SMN1; SMN2; Spinal muscular atrophy; SMA
DMRT1 mutations are rarely associated with male infertility
Keywords: جهش نقطه; DMRT1; male infertility; point mutation;
Point mutation of H3/H4 histones affects acetic acid tolerance in Saccharomyces cerevisiae
Keywords: جهش نقطه; Histone H3/H4; Point mutation; Acetic acid; Saccharomyces cerevisiae
A single amino acid in VP2 is critical for the attachment of infectious bursal disease subviral particles to immobilized metal ions and DF-1 cells
Keywords: جهش نقطه; Infectious bursal disease virus; Subviral particles; Immobilized metal-ion affinity chromatography; Vaccine; Point mutation
Efficacy of ponatinib against ABL tyrosine kinase inhibitor-resistant leukemia cells
Keywords: جهش نقطه; ABL kinase inhibitor resistance; Ponatinib; Point mutation;
Hierarchical clustering of genetic diversity associated to different levels of mutation and recombination in Escherichia coli: A study based on Mexican isolates
Keywords: جهش نقطه; Escherichia coli; Population structure; Clonal complex; Homologous recombination; Point mutation; Epidemiological surveillance;
A reverse dot blot assay for the expanded screening of eleven Chinese G6PD mutations
Keywords: جهش نقطه; Glucose 6-phosphate dehydrogenase deficiency (G6PD); Reverse dot blot (RDB); Multiplex polymerase reaction (M-PCR); Point mutation; Genetic screening
Electrochemical detection of point mutation based on surface hybridization assay conjugated allele-specific polymerase chainreaction
Keywords: جهش نقطه; Point mutation; Electrochemical detection; Surface hybridization assay; Allele-specific polymerase chain reaction; Differential pulse voltammetry
A molecular tool to assess the pathological relevance of alpha-globin DNA variants
Keywords: جهش نقطه; α1-globin; α-thalassaemia; aberrant splice variant; point mutation; premature termination codon; truncated protein;
Molecular modeling predicts structural changes in the A subunit of factor XIII caused by two novel mutations identified in a neonate with severe congenital factor XIII deficiency
Keywords: جهش نقطه; bleeding disorder; factor XIII deficiency; point mutation; molecular modeling; impaired folding; nonsense mediated mRNA decay (6)
Mutational profiling of sporadic versus toxin-associated brain cancer formation: Initial findings using loss of heterozygosity profiling
Keywords: جهش نقطه; Sporadic cancer; Genotoxin-associated cancer; Occupational and environmental cancer; Glioma; Hemangioblastoma; Mutagenesis; Chlorinated solvents; Trichloroethylene; Vinyl chloride; Mutation; Point mutation; Allelic imbalance; Loss of heterozygosity; Micro
Cloning of the acetylcholinesterase 1 gene and identification of point mutations putatively associated with carbofuran resistance in Nilaparvata lugens
Keywords: جهش نقطه; CB, carbamate; OP, organophosphate; AChE, acetylcholinesterase; Nlace1, N. lugens ace1 gene; NlAChE1, N. lugens AChE1; CbE, carboxylesteraseNilaparvata lugens; Carbofuran; Resistance; Acetylcholinesterase; Point mutation