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RET‐deficient mice: an animal model for Hirschsprung's disease and renal agenesis
Author(s) -
SCHUCHARDT A.,
D'AGATI V.,
LARSSONBLOMBERG L.,
COSTANTINI F.,
PACHNIS V.
Publication year - 1995
Publication title -
journal of internal medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.625
H-Index - 160
eISSN - 1365-2796
pISSN - 0954-6820
DOI - 10.1111/j.1365-2796.1995.tb01206.x
Subject(s) - multiple endocrine neoplasia type 2 , proto oncogene proteins c ret , receptor tyrosine kinase , medicine , hirschsprung's disease , ret proto oncogene , cancer research , megacolon , multiple endocrine neoplasia , phenocopy , biology , germline mutation , pathology , mutation , endocrinology , glial cell line derived neurotrophic factor , receptor , gene , genetics , disease , mutant , neurotrophic factors
. Receptor tyrosine kinases play a critical role in transducing signals involved in cell growth and differentiation. The c‐ret proto‐oncogene is a member of the receptor tyrosine kinase gene superfamily originally identified by its transforming ability. Somatic mutations of c‐ret are responsible for a large proportion of thyroid papillary carcinomas, while germ‐line mutations are responsible for multiple endocrine neoplasia types 2A and 2B, dominantly inherited cancer syndromes characterized by multiple tumours of neuroectodermal origin. In addition to its role in tumour formation, c‐ret is thought to have a developmental role since mutations of the gene have been implicated in the aetiology of Hirschsprung's syndrome (congenital megacolon). A targeted mutation in the murine c‐ret locus shows that the ret receptor is required for normal development of two lineally unrelated systems, the excretory system and the enteric nervous system.