Mosaic deletion ofEXOC6B: Further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability
Author:
Affiliation:
1. Institute of Human Genetics; Heidelberg University; Heidelberg Germany
2. Department of Pediatrics; University Children's Hospital; Heidelberg Germany
3. Sheffield Clinical Genetics Services; Sheffield Children's Hospital; Sheffield UK
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36770/fullpdf
Reference31 articles.
1. A genomic view of mosaicism and human disease;Biesecker;Nat Rev Genet,2013
2. Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype;Borsani;Eur J Med Genet,2008
3. The brain exocyst complex interacts with RalA in a GTP-dependent manner: Identification of a novel mammalian Sec3 gene and a second Sec15 gene;Brymora;J Biol Chem,2001
4. NDR2-mediated Rabin8 phosphorylation is crucial for ciliogenesis by switching binding specificity from phosphatidylserine to Sec15;Chiba;EMBO J,2013
5. RalA promotes a direct exocyst-Par6 interaction to regulate polarity in neuronal development;Das;J Cell Sci,2014
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