Point mutations
Effect of point mutations on Herbaspirillum seropedicae NifA activity
... in point mutations in ...seropedicae. Mutations K22V, T160E, M161V, L172R, and A215D resulted in inactive ...proteins. Mutations Q216I and S220I produced partially active proteins with ...
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Homology Directed Knockin of Point Mutations in the Zebrafish tardbp and fus Genes in ALS Using the CRISPR/Cas9 System.
... NHEJ repairs double-stranded DNA breaks often with indels at the cleaved DNA site. CRISPR/Cas9-mediated NHEJ can be used to disrupt gene function either by targeted removal of start codons, frameshifts, or the generation ...
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Ectopic expression of AID in a non-B cell line triggers A:T and G:C point mutations in non-replicating episomal vectors.
... AID-induced mutations can be detected using SHM vectors, we first tested the pmutEGFP-TAG182 vector (depicted in Figure 1) in Jurkat and Jurkat-AID ...by point mutations, a vector containing a ...
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Correlation between LTR point mutations and proviral load levels among Human T cell Lymphotropic Virus type 1 (HTLV-1) asymptomatic carriers
... wild-type viruses. This analysis revealed that while there was strong evidence for a higher PvL among HTLV-1 positive individuals with the G232A mutation than those without this mutation (42.2 vs. 54.4, p < 0.03), ...
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The impact of point mutations in the human androgen receptor: classification of mutations on the basis of transcriptional activity.
... 45 point mutations on the androgen receptor’s transactivational activity using our sensitive cell culture model system are summarized in ...of mutations which had loss of function at low levels or in ...
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Human aging and somatic point mutations in mtDNA: A comparative study of generational differences (grandparents and grandchildren)
... on mutations in ...somatic mutations in mtDNA by comparing mitochondrial lineages from grand- mothers (elderly women) and their daughters' ...had point mutations that were absent in their ...
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Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.
... ss mutations (cryptic site activation versus exon-skipping), we analyzed several parameters: exon and intron length, density of SRE motifs, availability of cryptic sites and relative 39 ss ...DMD point ...
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Stochastic drift in mitochondrial DNA point mutations: a novel perspective ex silico.
... mtDNA point mutation frequency of 1,100 in silico wild-type mouse heart tissues without developmental de novo point ...novo mutations during development while the other did not (i.e. no ...
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Automatic extraction of protein point mutations using a graph bigram association.
... Protein point mutations are an essential component of the evolutionary and experimental analysis of protein structure and ...index point mutations, most experimentally generated point ...
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Novel point mutations in the ERG11 gene in clinical isolates of azole resistant Candida species
... that point mutations leading to aa changes are a frequent event in ERG11 observed not only in azole-resist- ant strains, but also in azole-susceptible ...
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VM Katoch, SK Sharma, Seyed E Hasnain
... tuberculosis. Point mutations within rpo b , kat G and gyr A genes respectively lead to amino acid polymorphism in the target protein of the drug re- sulting in drug resistance (Rattan et ...new ...
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Ultra-deep sequencing of mouse mitochondrial DNA: mutational patterns and their origins.
... mtDNA mutations has been suggested as a cause of the observed decrease in respiratory chain function during aging ...of point mutations and rearrange- ments of mtDNA are found in aging ...mtDNA ...
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TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review
... described mutations at TSC1 and TSC2 genes and es- tablished genotype-phenotype correlations for tuberous sclerosis ...TSC1 mutations; TSC2 mutations; tuberous sclerosis com- plex; TSC ...
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N-acetyltransferase 2 (NAT2) Gene Polymorphisms and the Effectiveness of Infertility Treatment in Patients with Peritoneal Endometriosis
... Experimental point mutations (NAT2*5 and NAT2*6) lead to the development of the ‘slow acetylation phenotype’, which, according to the literature, help to reduce the level of the enzyme N- acetyltransferase, ...
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Intra-organ variation in age-related mutation accumulation in the mouse.
... of point mutations in the inner layer of the small intestine- the site containing cells that should have undergone the most rounds of cell divisions- than the outer part, containing mostly smooth muscle ...
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High frequency of the HRAS oncogene codon 12 mutation in Macedonian
... Point mutations at codon 12 of the HRAS (v-Ha-ras Harvey rat sarcoma viral oncogene homolog) oncogene are one of the best defined and widely studied molecular genetic events in transitional cell carcinoma ...
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Frequency of duplications in the D-loop in patients with mitochondrial DNA deletions
... mtDNA mutations exacerbating mitochondrial respiratory defects, creating a vicious cycle ...mtDNA mutations are gen- erated by reactive oxygen species-mediated damage ...mtDNA mutations in patients ...
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Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease
... heterozygous point mutations, as well as literature reports of patients carrying large 10qter ...bearing point mutations and indels in this gene, given that deletions affecting the entire gene ...
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A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design.
... of point mutations on frataxin transcription, while, alike carriers, the GAA expansion on the other allele reduces mRNA ...given point mutation may affect frataxin stability reducing its level in ...
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Use of multiplex allele-specific polymerase chain reaction (MAS-PCR) to detect multidrug-resistant tuberculosis in Panama.
... genetic mutations conferring drug resistance (DR) to Mycobacterium tuberculosis has not been studied previously in Central America, the place of origin of many immigrants to the United ...DR mutations ...
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