Article
RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects.
Journal of medical genetics - 1 Jul 2011
Jeanpierre Cécile, Macé Guillaume, Parisot Mélanie, Morinière Vincent, Pawtowsky Audrey, Benabou Marion, Martinovic Jelena, Amiel Jeanne, Attié-Bitach Tania, Delezoide Anne-Lise, Loget Philippe, Blanchet Patricia, Gaillard Dominique, Gonzales Marie, Carpentier Wassila, Nitschke Patrick, Tores Frédéric, Heidet Laurence, Antignac Corinne, Salomon Rémi
Abstract excerpt
BACKGROUND: The RET/GDNF signalling pathway plays a crucial role during development of the kidneys and the enteric nervous system. In humans, RET activating mutations cause multiple endocrine neoplasia, whereas inactivating mutations are responsible for Hirschsprung disease. RET mutations have also been reported in fetuses with renal agenesis, based on analysis of a small series of samples. OBJECTIVE AND METHODS:...
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