TY - JOUR
T1 - RET receptor signaling
T2 - Dysfunction in thyroid cancer and Hirschsprung's disease
AU - Asai, Naoya
AU - Jijiwa, Mayumi
AU - Enomoto, Atsushi
AU - Kawai, Kumi
AU - Maeda, Kengo
AU - Ichiahara, Masatoshi
AU - Murakumo, Yoshiki
AU - Takahashi, Masahide
PY - 2006/4
Y1 - 2006/4
N2 - Gain-of-function mutations within the receptor tyrosine kinase gene RET cause inherited and non-inherited thyroid cancer. Somatic gene rearrangements of RET have been found in papillary thyroid carcinoma and germline point mutations in multiple endocrine neoplasia (MEN) types 2A and 2B and familial medullary thyroid carcinoma (FMTC). Conversely, loss-of-function mutations are responsible for the development of Hirschsprung's disease, a congenital malformation of the enteric nervous system. Comparison between normal RET signaling activated by the RET ligand glial cell line-derived neurotrophic factor (GDNF) and abnormal RET signaling caused by various mutations has led to a deeper understanding of disease mechanisms. The focus of the present review is on recent progress in the study of RET signaling dysfunction in human diseases.
AB - Gain-of-function mutations within the receptor tyrosine kinase gene RET cause inherited and non-inherited thyroid cancer. Somatic gene rearrangements of RET have been found in papillary thyroid carcinoma and germline point mutations in multiple endocrine neoplasia (MEN) types 2A and 2B and familial medullary thyroid carcinoma (FMTC). Conversely, loss-of-function mutations are responsible for the development of Hirschsprung's disease, a congenital malformation of the enteric nervous system. Comparison between normal RET signaling activated by the RET ligand glial cell line-derived neurotrophic factor (GDNF) and abnormal RET signaling caused by various mutations has led to a deeper understanding of disease mechanisms. The focus of the present review is on recent progress in the study of RET signaling dysfunction in human diseases.
UR - http://www.scopus.com/inward/record.url?scp=33645290520&partnerID=8YFLogxK
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U2 - 10.1111/j.1440-1827.2006.01942.x
DO - 10.1111/j.1440-1827.2006.01942.x
M3 - Review article
C2 - 16634961
AN - SCOPUS:33645290520
SN - 1320-5463
VL - 56
SP - 164
EP - 172
JO - Pathology International
JF - Pathology International
IS - 4
ER -
