Found 23 datasets matching "dna-mutation".
-
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: 211.51 | Views last month: 0 -
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: 120.58 | 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: 119.57 | 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: 114.73 | Views last month: 0 -
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: 69.01 | Views last month: 0 -
The present invention provides a method of detecting non-apoptotic DNA in clinical samples. In particular there is provided a novel screening methodology for the detection of colorectal carcinoma....
Search relevance: 65.53 | Views last month: 0 -
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: 59.35 | Views last month: 0 -
Background The contribution of BRCA1 and BRCA2 to the incidence of male breast cancer (MBC) in the United Kingdom is not known, and the importance of these genes in the increased risk of...
Search relevance: 57.62 | Views last month: 3 -
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: 56.99 | Views last month: 1 -
Background A non-pathogenic species of coryneform bacteria, Corynebacterium glutamicum, was originally isolated as an L-glutamate producing bacterium and is now used for fermentative...
Search relevance: 55.99 | Views last month: 0 -
Background The p53 protein is activated by genotoxic stress, oncogene expression and during senescence, p53 transcriptionally activates genes involved in growth arrest and apoptosis. p53...
Search relevance: 55.44 | Views last month: 0 -
Background Mutations in the fibrillin -1 gene (FBN1) cause Marfan syndrome (MFS), an autosomal dominant multi-system connective tissue disorder. The 200 different mutations reported in...
Search relevance: 53.49 | Views last month: 0 -
Background Desmuslin is an α-dystrobrevin-interacting protein expressed primarily in heart and skeletal muscle. The desmuslin protein interacts with and is closely related to desmin, a...
Search relevance: 48.62 | Views last month: 2 -
Background Bloom syndrome is a rare cancer-prone disorder in which the cells of affected persons have a high frequency of somatic mutation and genomic instability. Bloom syndrome cells...
Search relevance: 48.62 | Views last month: 0 -
The Cosmic Ray Exposure Sequencing Science (CRESS) payload system is a proof of concept experiment to assess the genomic impact of space radiation on seeds. CRESS was designed as a secondary...
Search relevance: 48.60 | Views last month: 0 -
Background Development of proximal and distal colorectal cancers involve partly different mechanisms associated with the microsatellite instability (MSI) and the chromosomal instability...
Search relevance: 47.14 | Views last month: 1 -
Background Breast cancer is the most common female malignancy and a major cause of death in middle-aged women. So far, germline mutations in the BRCA1 and BRCA2 genes in patients with...
Search relevance: 47.08 | Views last month: 2 -
Background The objective of this study was to document the clinical, laboratory and genetic features of galactosemia in patients from the Cape Town metropolitan region. ...
Search relevance: 45.64 | Views last month: 1 -
In this study, a major effort was undertaken to compile a large genotoxicity dataset (54,805 records for 9299 substances) from several public sources (e.g., TOXNET, COSMOS, eChemPortal). The names...
Search relevance: 45.45 | Views last month: 3
