Found 24 datasets matching "genetic-mutation".
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Background Using genetic distances measured from exons, it has been observed that the mutation rate is not constant along mammalian chromosomes. Exons constitute only 1% of the human...
Search relevance: 104.98 | Views last month: 0 -
Background Recently, it has been suspected that there is a relationship between therapy with some antibiotics and the onset of autism; but even more curious, some children benefited...
Search relevance: 94.80 | Views last month: 3 -
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: 65.47 | Views last month: 0 -
AMONDYS 45 (casimersen) is an intravenous solution used to treat Duchenne muscular dystrophy in patients with a specific genetic mutation. It works as an antisense oligonucleotide to increase...
Search relevance: 64.03 | Views last month: 0 -
TABRECTA (capmatinib) is an oral prescription medication from Novartis Pharmaceuticals Corporation, approved to treat adults with metastatic non-small cell lung cancer (NSCLC) that has a specific...
Search relevance: 59.34 | Views last month: 0 -
Pulmonary surfactant is a complex mixture of phospholipids and proteins, which is present in the alveolar lining fluid and is essential for normal lung function. Alterations in surfactant...
Search relevance: 57.92 | Views last month: 0 -
Background Little is known about genetic factors affecting intraocular pressure (IOP) in mice and other mammals. The purpose of this study was to determine the IOPs of genetically...
Search relevance: 57.61 | Views last month: 0 -
The data set show the number of bacterial mutant colonies (called revertants or rev) per petri plate and the dose of the extractable organic matter (EOM) in terms of micrograms/petri plate for the...
Search relevance: 56.01 | Views last month: 2 -
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: 54.65 | Views last month: 1 -
Mutational analysis of Peroxiredoxin IV: exclusion of a positional candidate for multinodular goitre
Background Multinodular goitre (MNG) is a common disorder characterised by an enlargement of the thyroid, occurring as a compensatory response to hormonogenesis impairment. The incidence...
Search relevance: 51.86 | 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: 51.86 | 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: 51.60 | Views last month: 1 -
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: 51.49 | 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: 50.56 | Views last month: 1 -
Mouse skin passage of a Streptococcus pyogenes Tn917 mutant of sagA/pel restores virulence, beta-hemolysis and sagA/pel expression without altering the position or sequence of the transposon: Correction
Search relevance: 50.56 | Views last month: 1 -
Background A collection of over 20,000 Salmonella typhimurium LT2 mutants, sealed for four decades in agar stabs, is a unique resource for study of genetic and evolutionary changes....
Search relevance: 50.36 | 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: 49.96 | 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: 49.91 | Views last month: 0 -
Background Mutations in BRCA1 and BRCA2 account for approximately 50% of breast cancer families with more than four affected cases, whereas exonic mutations in p53, PTEN, CHK2 and ATM...
Search relevance: 49.89 | Views last month: 0 -
Listeria monocytogenes contamination of fresh-cut produce poses a threat to consumers due to its high mortality rate. Because it is widespread in the environment, as well as able to grow and...
Search relevance: 48.59 | Views last month: 0
