Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome-Reference-Cited by-同舟云学术

Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome

Published:2012-12 Issue:6 Volume:91 Page:1122-1127
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Schuurs-Hoeijmakers Janneke H.M.,Oh Edwin C.,Vissers Lisenka E.L.M.,Swinkels Mariëlle E.M.,Gilissen Christian,Willemsen Michèl A.,Holvoet Maureen,Steehouwer Marloes,Veltman Joris A.,de Vries Bert B.A.,van Bokhoven Hans,de Brouwer Arjan P.M.,Katsanis Nicholas,Devriendt Koenraad,Brunner Han G.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference17 articles.

1. Genetic and epigenetic networks in intellectual disabilities;van Bokhoven;Annu. Rev. Genet.,2011

2. A de novo paradigm for mental retardation;Vissers;Nat. Genet.,2010

3. PACS-2 controls endoplasmic reticulum-mitochondria communication and Bid-mediated apoptosis;Simmen;EMBO J.,2005

4. At the crossroads of homoeostasis and disease: Roles of the PACS proteins in membrane traffic and apoptosis;Youker;Biochem. J.,2009

5. Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia;Schermer;EMBO J.,2005

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