Found 101 datasets matching "mutation".
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Background Tyrosinemia type I, the most severe disease of the tyrosine catabolic pathway is caused by a deficiency in fumarylacetoacetate hydrolase (FAH). A patient showing few of the...
Search relevance: 154.00 | Views last month: 0 -
When there are no strand-specific biases in mutation and selection rates between the two strands of DNA, the average nucleotide composition is theoretically expected to be A = T and G = C within...
Search relevance: 139.69 | Views last month: 0 -
Background Tissues that depend on aerobic energy metabolism suffer most in diseases caused by mutations in mitochondrial DNA (mtDNA). Cardiac abnormalities have been described in many...
Search relevance: 128.39 | Views last month: 0 -
Background Mutations in the CHK2 gene at chromosome 22q12.1 have been reported in families with Li-Fraumeni syndrome. Chk2 is an effector kinase that is activated in response to DNA...
Search relevance: 120.31 | Views last month: 1 -
The dataset includes survival of control, control injected, and CRISPR/Cas9 injected embryos as well as percent efficiency of insertion/deletion mutation formation for the three different CRISPR...
Search relevance: 95.89 | Views last month: 3 -
Background Growth inhibition by RPR-130401, a non-peptidomimetic farnesyltransferase inhibitor, was investigated without or with combined exposure to ionizing radiation in three human...
Search relevance: 91.47 | Views last month: 0 -
A purified polynucleotide having a chain of nucleotides corresponding to a mutated sequence, which in a wild form encodes a polypeptide implicated in hereditary sensory defect wherein said mutated...
Search relevance: 84.16 | Views last month: 0 -
Background Although all patients undergoing total joint arthroplasty are subjected to similar risk factors that predispose to thromboembolism, only a subset of patients develop this...
Search relevance: 83.94 | Views last month: 0 -
Background Many investigations have reported that advantageous mutations occurred more frequently under selective conditions than those under non-selective conditions. This phenomenon is...
Search relevance: 79.02 | Views last month: 0 -
Background: Correlations between genome composition (in terms of GC content) and usage of particular codons and amino acids have been widely reported, but poorly explained. We show here...
Search relevance: 78.41 | Views last month: 1 -
Background R122, the primary autolysis site of the human cationic trypsinogen (PRSS1), constitutes an important "self-destruct" or "fail-safe" defensive mechanism against premature...
Search relevance: 72.11 | Views last month: 0 -
Background To support the positional cloning of the mouse mutation wobbler (wr) the corresponding regions on human Chr2p13-14 and mouse Chr11 were analyzed in detail and compared with...
Search relevance: 69.68 | Views last month: 0 -
Culex quinquefasciatus is an important target for vector control because of its ability to transmit pathogens that cause disease. Most populations are resistant to pyrethroids and often to...
Search relevance: 69.02 | Views last month: 0 -
We have identified four different mutations causing leukocyte adhesion deficiency (LAD) in the ITGB2 gene of patients from a highly inbred population. Two were novel single-bp deletions (1497delG...
Search relevance: 64.50 | Views last month: 0 -
Background Previously, we reported effects of the cryb mutation on circadian rhythms in period and timeless gene expression within isolated peripheral Drosophila tissues. We relied on...
Search relevance: 64.10 | Views last month: 0 -
Background The thymidine kinase (tk) mutagenesis assay is often utilized to determine the frequency of herpes simplex virus (HSV) replication-mediated mutations. Using this assay,...
Search relevance: 62.98 | Views last month: 0 -
In order to explore the possible role of E-cadherin in familial cancer, 19 familial breast cancer patients, whose tumours demonstrated loss of heterozygosity (LOH) at the E-cadherin locus, were...
Search relevance: 62.34 | Views last month: 1 -
Background Any DNA sequence is a result of compromise between the selection and mutation pressures exerted on it during evolution. It is difficult to estimate the relative influence of...
Search relevance: 61.76 | Views last month: 0 -
McCandlish and Stoltzfus gathered data from deep mutational scanning experiments on 12 proteins, comprising 56641 distinct amino acid replacement mutations. By converting fitnesses to...
Search relevance: 59.85 | Views last month: 0 -
We report the first in vitro and genetic confirmation of Malarone® (GlaxoSmithKline; atovaquone and proguanil hydrochloride) resistance in Plasmodium falciparum acquired in Africa. On presenting...
Search relevance: 59.21 | Views last month: 1
