Mutation

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MUTATION, French law. This term is synonymous with change, and is particularly applied to designate the change which takes place in the property of a thing in its transmission from one person to another; permutation therefore happens when, the owner of the thing sells, exchanges or gives it. It is nearly synonymous with transfer. (q.v.) Merl. Repert. h.t.

References in periodicals archive ?
de Vijlder, "Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis," Human Mutation, vol.
Absence of TPO activity implicates the inability to iodinate tyrosine residue in Tg and to couple these residues to form THs, mainly [T.sub.4] and some [T.sub.3] and r[T.sub.3] (reverse [T.sub.3]) Inactivating mutations in both TPO alleles have been found in patients with CH caused by TIOD.
Renal clear cell carcinoma (RCC), arising in the proximal convoluted tubules of the kidney transport system, is the most common subtype of renal cell carcinomas (comprising about 88% of tumors) and is tightly associated with inactivating mutations of the VHL gene [4, 5].
Interestingly, inactivating mutation of the leptin receptor gene, encoded by human LEPR on chromosome 1p31, caused less severe clinical features, indicating that probably, in case of receptor dysfunction, leptin is able to interact with other molecules to exert its action [67, 68].
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.
Familial benign hypocalciuric hypercalcemia (FBHH) is a benign situation which develops due to inactivating mutation of calcium sensing receptor (CaSR).
No additional known or novel inactivating mutation in the encoding region of the CYP21 gene located on the other allele was found.
The goal of the study was to understand what ARID1A normally does in cells and which cellular functions are affected if it is lost due to inactivating mutations,' says le-Ming Shih, M.D., Ph.D., Richard W.
It appears that the loss of the RBI function may also be involved in the development of clinically aggressive forms of bladder cancer, although inactivating mutations of the RBI gene are relatively uncommon and seen in only 17% of cases.
The inactivating mutations in the nuclear transcription factor 1 homeobox A (HNFIA), the hepatocyte nuclear factor 4 homeobox (HNF4A) and the glucokinase (GCK) are the most common causes of MODY (3).
Inactivating mutations are more common in adenocarcinomas than in squamous cell cancers; they are also more common among males and smokers and in poorly differentiated adenocarcinomas.