Homozygous nonsense mutation in SCHIP1/IQCJ-SCHIP1 causes a neurodevelopmental brain malformation syndrome-Reference-Cited by-同舟云学术

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Homozygous nonsense mutation in SCHIP1/IQCJ-SCHIP1 causes a neurodevelopmental brain malformation syndrome

Published:2017-12-20 Issue:2 Volume:93 Page:387-391
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Elsaid M.F.¹,Chalhoub N.²,Ben-Omran T.³,Kamel H.⁴,AL Mureikhi M.³,Ibrahim K.¹,Elizabeth Ross M.⁵,Abdel Aleem A.K.²⁵^ORCID

Affiliation:

1. Department of Neuropediatrics, Hamad Medical Corporation; Doha Qatar

2. Neurogenetics Lab; Weill Cornell Medicine; Doha Qatar

3. Department of Clinical and Metabolic Genetics, Hamad Medical Corporation; Doha Qatar

4. Department of Radiology; Hamad Medical Corporation; Doha Qatar

5. BMRI Center for Neurogenetics and Department of Neurology, Weill Cornell Medicine; NY New York

Funder

Qatar National Research Fund

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13122/fullpdf

Reference13 articles.

1. Cloning and characterization of SCHIP-1, a novel protein interacting specifically with spliced isoforms and naturally occurring mutant NF2 proteins;Goutebroze;Mol Cell Biol,2000

2. The cytoskeleton-associated protein SCHIP1 is involved in axon guidance, and is required for piriform cortex and anterior commissure development;Klingler;Development,2015

3. Schwannomin-interacting protein-1 isoform IQCJ-SCHIP-1 is a late component of nodes of Ranvier and axon initial segments;Martin;J Neurosci,2008

4. IQCJ-SCHIP1, a novel fusion transcript encoding a calmodulin-binding IQ motif protein;Kwasnicka-Crawford;Biochem Biophys Res Commun,2006

5. Schwannomin-interacting protein 1 isoform IQCJ-SCHIP1 is a multi-partner ankyrin and spectrin binding protein involved in the organization of nodes of Ranvier;Martin;J Biol Chem,2017

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