Found 30 datasets matching "mutation-analysis".
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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: 132.24 | Views last month: 1 -
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: 65.65 | 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: 55.99 | 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: 53.93 | Views last month: 0 -
Background The E-cadherin-catenin complex plays a crucial role in epithelial cell-cell adhesion and in the maintenance of tissue architecture. Perturbation in the expression or function...
Search relevance: 50.46 | Views last month: 1 -
Background Mutation analysis of the neurofibromatosis type 1 (NF1) gene has shown that about 30% of NF1 patients carry a splice mutation resulting in the production of one or several...
Search relevance: 49.60 | Views last month: 0 -
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: 48.40 | 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: 48.39 | 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: 44.60 | Views last month: 0 -
Background We have constructed Bayesian prior-based, amino-acid sequence profiles for the complete yeast mitochondrial proteome and used them to develop methods for identifying and...
Search relevance: 43.91 | Views last month: 0 -
Background Multiple endocrine neoplasia type 2 is an autosomal dominant disorder. MEN 2A is characterized by medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism; MEN 2B...
Search relevance: 43.14 | Views last month: 0 -
Genomics, or the study of genes and their function, is a burgeoning field with many new technologies. In the present review, we explore the application of genomic approaches to the study of...
Search relevance: 41.52 | Views last month: 1 -
Background Many RNA viruses do not have a single, representative genome but instead form a set of related variants that has been called a quasispecies. The sequence variability of such...
Search relevance: 40.96 | Views last month: 0 -
Background Post-transcriptional gene silencing (PTGS) by short interfering RNA has opened up new directions in the phenotypic mutation of cellular genes. However, its efficacy on...
Search relevance: 40.78 | 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: 39.42 | Views last month: 0 -
Background The routine determination of drug resistance in newly HIV-1 infected individuals documents a potential increase in the transmission of drug-resistant variants. Plasma samples...
Search relevance: 39.02 | Views last month: 0 -
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: 38.94 | Views last month: 1 -
Background Secretion of recombinant proteins in yeast can be affected by their improper folding in the endoplasmic reticulum and subsequent elimination of the misfolded molecules via the...
Search relevance: 36.11 | Views last month: 0 -
Background Endoplasmic reticulum retention of misfolded cystic fibrosis transmembrane conductance regulator (CFTR) mutants and their rapid degradation is the major cause of cystic...
Search relevance: 35.72 | Views last month: 0 -
Background Following cleavage by caspase 8, the C-terminus of Bid translocates from the cytosol to the mitochondria that is dependent upon structures formed by the mitochondrial-specific...
Search relevance: 34.56 | Views last month: 0
