Multiple Functional Effects of RET Kinase Domain Sequence Variants in Hirschsprung Disease
Author:
Affiliation:
1. Division of Cancer Biology and Genetics; Cancer Research Institute, and Department of Pathology and Molecular Medicine; Queen's University; Kingston; ON; Canada
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22170/fullpdf
Reference59 articles.
1. RET is a heat shock protein 90 (HSP90) client protein and is knocked down upon HSP90 pharmacological block;Alfano;J Clin Endocrinol Metab,2010
2. Hirschsprung disease, associated syndromes and genetics: a review;Amiel;J Med Genet,2008
3. RET tyrosine kinase signaling in development and cancer;Arighi;Cytokine Growth Factor Rev,2005
4. Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease;Attié;Hum Mol Genet,1995
5. Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease;Auricchio;Am J Hum Genet,1999
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