نتایج جستجو برای: point mutation
تعداد نتایج: 796715 فیلتر نتایج به سال:
To the Editor : Molybdenum cofactor deficiency (MoCoD, MIM 252150) is an autosomal recessive and rare metabolic disease (1). Absence of the cofactor inactivates sulphite oxidase activity thereby resulting via elevated sulphite levels in severe and progressive neurological damage. Affected patients are found worldwide and usually come to clinical attention by intractable seizures with a prominen...
Mutations in the human DNA mismatch repair gene MSH2 are associated with hereditary nonpolyposis colorectal cancer as well as a significant proportion of sporadic colorectal cancer. The inactivation of MSH2 results in the accumulation of somatic mutations in the genome of tumor cells and resistance to the genotoxic effects of a variety of chemotherapeutic agents. Here we show that the DNA repai...
Results Homology modeling revealed that G432 forms part of a highly conserved structure motif (G/A/G/A) of small residues in homologous positions of all four domains (G432 (IS6), A780 (IIS6), G1193 (IIIS6), A1503 (IVS6)). In contrast, corresponding mutations in domains II, III and IV induced parallel shifts of activation and inactivation curves indicating a preserved coupling between both proce...
Duplicate DNA sequences in the genome of Neurospora crassa can be detected and mutated in the sexual phase of the life cycle by a process termed RIP (repeat-induced point mutation). RIP occurs in the haploid nuclei of fertilized, premeiotic cells before fusion of the parental nuclei. Both copies of duplications of gene-sized sequences are affected in the first generation at frequencies of appro...
The Eecherichiu coli luc P'115 mutation changes the base-pair where in vitro RNA synthesis initiates from an A/T to a T/A (Maquat et al., 1980). Such an alt,eration results in a catabolite gene activator protein-independent phenotype (Reznikoff, 1976; Maquat et al., 1980). In the absence of catabolite gene activator protein and CAMP, the altered base-pair of the mutant DNA is not used in vitro ...
We observed an apparent series of insertions and deletions beginning 5 bp downstream of an A-->G silent transition in exon 1 of the tumor necrosis factor receptor 1 gene. The apparent sequence anomaly was observed only in individuals carrying the transition. Formamide gel electrophoresis revealed that the apparent sequence anomaly was due to compression. The compression is plausibly explained b...
We have developed a quantum dot-based microRNA nanosensor for point mutation assays using primer generation-mediated rolling circle amplification. The proposed method exhibits high sensitivity with a detection limit of as low as 50.9 aM and a large dynamic range of 7 orders of magnitude from 0.1 fM to 1 nM. Importantly, this method can be further applied to analyze the point mutation of mir-196...
The multifaceted process of aging inevitably leads to disturbances in cellular metabolism and protein homeostasis. To meet this challenge, cells make use of autophagy, which is probably one of the most important pathways preserving cellular protection under stressful conditions. Thus, efficient autophagic flux is required for healthy aging in many if not all eukaryotic organisms. The regulation...
The chromosomal position of the centromere-specific histone H3 variant CENH3 (also called "CENP-A") is the assembly site for the kinetochore complex of active centromeres. Any error in transcription, translation, modification, or incorporation can affect the ability to assemble intact CENH3 chromatin and can cause centromere inactivation [Allshire RC, Karpen GH (2008) Nat Rev Genet 9 (12):923-9...
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