Mutational analysis of the GDNF/RET-GDNFRα signaling complex in a kindred with vesicoureteral reflux

  title={Mutational analysis of the GDNF/RET-GDNFR$\alpha$ signaling complex in a kindred with vesicoureteral reflux},
  author={Sarah Elizabeth Shefelbine and Sangeeta Khorana and Pamela N. Schultz and Eileen Huang and Nicole Thobe and Zheng Hu and Gary M. Fox and Shuqian Jing and Gilbert J Cote and Robert F. Gagel},
  journal={Human Genetics},
Glial cell line-derived neurotrophic factor (GDNF) mediates signaling across the cell membrane by interaction with the RET-GDNFRα receptor complex. We identified a family in which one member had medullary thyroid carcinoma (MTC) and four members had vesicoureteral reflux (VUR). Knowledge that mutations in the RET proto-oncogene cause MTC and studies documenting genitourinary abnormalities in RET or GDNF knockout mice led us to examine the GDNF/RET-GDNFRα signaling complex in this family. RET… 
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RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French‐Canadian population from Quebec
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Genetic evidence for a novel gene(s) involved in urogenital development on 10q26.
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Evidence is presented that sequence changes within the coding region of the RET proto-oncogene, a putative transmembrane tyrosine kinase, may be responsible for the development of neoplasia in these inherited disorders.
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
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Renal agenesis and the absence of enteric neurons in mice lacking GDNF
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Neurturin responsiveness requires a GPI-linked receptor and the Ret receptor tyrosine kinase
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A new genetic linkage map of the pericentromeric region of chromosome 10 is constructed, on the basis of 13 polymorphisms at six loci, which places the MEN2A locus between the dinucleotide repeat markers, with odds of 5,750:1 over the next most likely position.
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