The RET Protooncogene

摘要: The RET protooncogene encodes a transmembrane receptor tyrosine kinase (RTK) with affinity for multiple ligands, including glial cell line-derived neurotrophic factor (GDNF). It was first described in 1985 by Takahashi and others, who identified rearrangements the gene from human lymphoma DNA transforming activity transfected line [1]. Over next few years, mapped to its location on chromosome 10q11.2 [2]. signaling activates number of downstream pathways implicated survival differentiation. knockout mice demonstrate phenotype that includes renal agenesis aberrant gut neurophysiology. Many effects normal abnormal proteins have been characterized development, physiology, disease. Somatic mutations or involving sporadic thyroid carcinomas. Germline activating cause endocrine neoplasia type 2 (MEN-2) syndromes. This discovery has fundamentally changed clinical approach management these patients their at-risk family members, provides insight into structure function.