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- Title
RET gene mutations are not a common cause of congenital solitary functioning kidney in adults.
- Authors
Oram, Richard A.; Edghill, Emma L.; Woolf, Adrian S.; Hennekam, R. C.; Ellard, Sian; Hattersley, A. T.; Bingham, Coralie
- Abstract
The article focuses on the study on rearranged during transfection (RET) gene mutations to verify their impact in human kidney development. It states that loss-of-function RET mutations happen in Hirschsprung disease, while gain-of-function mutations prompt multiple endocrine neoplasia type 2 (MEN2) and familial medullary thyroid carcinoma (FMTC). It suggests that human RET mutations that cause renal disease would lead to severe renal failure with postnatal survival incompatibility.
- Subjects
GENE transfection; GENETIC transformation; HIRSCHSPRUNG'S disease; MULTIPLE endocrine neoplasia; CHRONIC kidney failure; FETAL development; GENETICS
- Publication
Nephrology Dialysis Transplantation, 2009, Vol 2, Issue 2, p183
- ISSN
0931-0509
- Publication type
Article
- DOI
10.1093/ndtplus/sfn204