point mutation
Point Mutation of Hoxd12 in Mice
... A-to-C mutation in the Hoxd12 gene, resulting in alanine-to-serine ...Hoxd12 point mutated mice. Conclusion: These results suggest that point mutation rather than the entire deletion of ...
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Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency
... a point mutation in codon 101 (CGG to CAG) that predicts an amino acid change from arginine to ...The mutation that was identified appears to be responsible for the loss of function in this allele, ...
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Myopia disease mouse models: a missense point mutation (S673G) and a protein-truncating mutation of the Zfp644 mimic human disease phenotype
... S672G mutation in ZNF644 gene (S673G in mouse), described previously in a patient with the mutation suggested to be causative of inherited high myopia in humans ...desired mutation (Fig. 2a). In ...
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A Point Mutation in a Domain of Gamma Interferon Receptor 1 Provokes Severe Immunodeficiency
... new mutation that affects the IFN- ␥ R1 ligand- binding domain in a Spanish patient with mycobacterial disseminated infection and multifocal osteomyelitis is ...The mutation generates an amino acid change ...
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Repeat-Induced Point Mutation and the Population Structure of Transposable Elements in Microbotryum violaceum
... repeat-induced point mutation occur within haploid nuclei following mating but prior (RIP) is known to occur in ascomycete fungi (reviewed to meiosis ...
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Identification of Human Cytomegalovirus pUL27 R233 point mutation using PCR-RFLP
... After phosphorylation, UL27 plays a role in nuclear export of sub-viral particles (8). A trial demonstrated three instances of UL27 mutation R233S, A406V/C415stop, and W362R which are common and confer low-grade ...
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A targeted point mutation in thrombomodulin generates viable mice with a prethrombotic state
... A point mutation in the factor V gene rendering the activated cofactor somewhat resistant to APC cleavage (factor V Leiden) is the most frequent abnormality resulting in a pre- disposition to venous ...
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Original Article Clinical features of MELAS and its relation with A3243G gene point mutation
... The point mutation A3243G of mitochondrial DNA (mtDNA) may work as a specific bio-marker for mitochon- drial ...and point mutation A3243G of mtDNA, in an attempt to provide further evidences ...
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Conditional activation of the N598R point mutation in the NR1 subunit of the NMDA receptor in knock-in mice
... The exact signal transduction mechanism by which the resulting rise in intracellular Ca^"^ triggers the enhancement of synaptic strength to express LTP remains to be established. Among the few molecules which are ...
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Peroxisome Proliferator Activated Receptor-gamma P465L Point Mutation in Diabetes and Atherosclerosis
... The author wishes to Last few years in Chapel Hill have been wonderful. From a sheltered life in India at my parent’s house, I moved to a new country, to a new work environment. Nobuyo gave me an opportunity of a life ...
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Recurrence of repeat-induced point mutation (RIP) in Neurospora crassa.
... - 0 3 while for the series illustrated on the right side of the panels, the "conservative" series, an isolate that seemed minimally altered was selected.. Thus the sequences[r] ...
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Association of a novel point mutation in MSH2 gene with familial multiple primary cancers
... MSH2 mutation site was subjected to PCR amplification and cloned into the pEASY vector (Transgen), which was used for Sanger sequencing (JieRui, Shanghai, ...
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A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia
... amplified from exon 4, a substitution of adenine (ACC) for guanine (GCC) in codon 109 resulted in the replacement of threonine-for-alanine, a mutation confirmed by amino acid sequencing of tryptic peptides derived ...
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The Neurospora transposon Tad is sensitive to repeat-induced point mutation (RIP).
... Interestingly, the sequences of the Tad-related elements obtained are all distinct, consis- tent with the Southern data that suggested that the copy number of inactivated Tad e[r] ...
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Direct determination of the point mutation rate of a murine retrovirus.
... DISCUSSION Estimates of the mutation rate of infectious progeny avian retroviruses suggest that the virus may sustain 1 to 10 point mutations during a single replication cycle 9, 26, cor[r] ...
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Dynamics of Microsatellite Divergence Under Stepwise Mutation and Proportional Slippage/Point Mutation Models
... occur at time t. Since point mutations do not change generations, so at ⫽ 0.8 and the correction factor is the total length, and under proportional slippage the 0.688. For D. melanogaster vs. D. simulans, t ⫽ ...
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Rearrangement of the VP6 gene of a group A rotavirus in combination with a point mutation affecting trimer stability.
... The nucleotide and predicted amino acid sequences of RNA N6 of the Chinese Lpl4 lamb rotavirus were compared with published sequences of other group A rotaviruses 4, 7, 15, 18, 37, 41 by[r] ...
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A single point mutation has pleiotropic effects on pp60v-src function.
... 1898 Downloaded from http://jvi.asm.org/ on November 10, 2019 by guest The Rous sarcoma virus mutant tsLA29 encodes a pp6ov-src molecule that is temperature sensitive for both tyrosine k[r] ...
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Occurrence of Repeat Induced Point Mutation in Long Segmental Duplications of Neurospora
... To ascertain whether genes in larger duplications are subject to RIP, progeny were examined from crosses heterozygous for long segmental duplications obtained using insertional or[r] ...
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Ophthalmic phenotype of TCIRG1 gene mutations in Chinese infantile malignant osteopetrosis
... frameshift mutation and 16 (53%) with point mutation had poor gaze qualities, such as nystagmus and/or strabismus; optic atrophy was found in 16 eyes (67%) in group F and 6 (20%) in group P; the ...
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