RET (REarranged during Transfection) is a transmembrane receptor tyrosine kinase that is
activated by a complex consisting of a soluble glial cell line‐derived neurotrophic factor …

Hirschsprung disease (HSCR) is a congenital developmental defect of the enteric nervous
system known to be associated with the RET-protooncogene and other candidates …

An important challenge in translational bioinformatics is to understand how genetic variation
gives rise to molecular changes at the protein level that can precipitate both monogenic and …

Abstract Protein arginine methyltransferase 1 (PRMT1) catalyzing the formation of
asymmetric dimethylarginines has been implicated in cancer development, metastasis, and …

Hirschsprung disease (HSCR) is a major cause of chronic constipation in children. HSCR
can be caused by germline mutations in RET and EDNRB. Defining causality of the …

Purpose: The RET proto-oncogene is considered to be the major susceptibility gene
involved in Hirschsprung disease. Traditional RET germline mutations account for a small …

Mutation and polymorphism data for Hirschsprung disease (HSCR) varies among ethnic
groups. Single nucleotide polymorphisms (SNP) of RET proto-oncogene (RET) were …

Background RET is the major gene associated to Hirschsprung disease (HSCR) with
differential contributions of its rare and common, coding and noncoding mutations to the …

Purpose The enteric nervous system (ENS), comprising neurons and glial cells, organized
as interconnected ganglia within the gut wall, controls peristalsis and the production of …

BACKGROUND/PURPOSE: Mutations in the receptor tyrosine kinase RET gene are
associated with Hirschsprung disease (HD), which is also known as congenital intestinal …