…inactivating mutations of the CaSR . In some cases, NHPT may be the result of the mutant receptor exerting a dominantnegative action on its wild-type partner, thereby leading to a greater elevation in set-point …
…itself. A clinical example is identification of the ingredients in an herbal preparation. Dominantnegative alleles are alleles that cause an abnormal phenotype or disease by a mechanism that depends … a mutant refers to a population that harbors a specific, atypical variant (eg, antibiotic-resistant mutants).…
… it is possible that the MUC1 mutation in affected patients has a dominantnegative or gain-of-function effect .… These mutant uromodulin proteins are unable to assemble properly and cannot exit the endoplasmic reticulum ,…
…ALPS through the mechanism of dominant-negative interference . In in vitro transfection studies, mutant and wild type Fas were coexpressed on the surface of a Fas-negative cell line to simulate the heterozygous …
… which may alter T cell activation and impair host antitumor immunity . IDH1 mutant enzymes may act as dominant-negative inhibitors of wildtype IDH1 enzymatic function, exerting a tumorigenic effect through …