Hirschsprung associated GDNF mutations do not prevent RET activation

• Published in: European journal of human genetics : EJHG Vol. 10; no. 3; pp. 183 - 187
• Main Authors: Borghini, Silvia, Bocciardi, Renata, Bonardi, Giulia, Matera, Ivana, Santamaria, Giuseppe, Ravazzolo, Roberto, Ceccherini, Isabella
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.03.2002
• Subjects: Animals; COS Cells; Drosophila Proteins; Genes; Genetics; Genotype; Genotype & phenotype; Genotypes; Glial Cell Line-Derived Neurotrophic Factor; Glial Cell Line-Derived Neurotrophic Factor Receptors; Hirschsprung Disease - genetics; Hirschsprung's disease; Humans; Kinases; Ligands; Mutagenesis; Mutagenesis, Site-Directed; Mutation; Nerve Growth Factors; Nerve Tissue Proteins - genetics; Neuroblastoma; Neuroblastoma cells; Neuronal-glial interactions; Pathogenesis; Patients; Phenotype; Phenotypes; Phosphorylation; Proteins; Proto-Oncogene Mas; Proto-Oncogene Proteins - genetics; Proto-Oncogene Proteins c-ret; Receptor Protein-Tyrosine Kinases - genetics; Ret protein; Rodents; Transfection; Tumor Cells, Cultured; Italy

Hirschsprung disease (HSCR) is a complex disorder characterised by aganglia of distal gastrointestinal tracts. The highest proportion of both familial and sporadic cases is due to mutations of the RET proto-oncogene. Five germline mutations in the glial cell-line-derived neurotrophic factor (GDNF) g...