TY - JOUR
T1 - RET-deficient mice
T2 - An animal model for Hirschsprung's disease and renal agenesis
AU - Schuchardt, A.
AU - D'Agati, V.
AU - Larsson-Blomberg, L.
AU - Costantini, F.
AU - Pachnis, V.
PY - 1995
Y1 - 1995
N2 - 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.
AB - 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.
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U2 - 10.1111/j.1365-2796.1995.tb01206.x
DO - 10.1111/j.1365-2796.1995.tb01206.x
M3 - Article
C2 - 7595168
AN - SCOPUS:0028787002
SN - 0954-6820
VL - 238
SP - 327
EP - 332
JO - Journal of Internal Medicine
JF - Journal of Internal Medicine
IS - 4
ER -