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).
are more common in adenocarcinomas than in squamous cell cancers; they are also more common among males and smokers and in poorly differentiated adenocarcinomas.