A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome-Reference-Cited by-同舟云学术

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A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome

Published:2011-08-02 Issue:7 Volume:156 Page:799-807
ISSN:1552-4841
Container-title:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Takahashi Yumi,Hosoki Kana,Matsushita Masafumi,Funatsuka Makoto,Saito Kayoko,Kanazawa Hiroshi,Goto Yu-ichi,Saitoh Shinji

Publisher

Wiley

Subject

Cellular and Molecular Neuroscience,Psychiatry and Mental health,Genetics(clinical)

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.b.31221/fullpdf

Reference21 articles.

1. Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R533X;Aznarez;J Med Genet,2007

2. Human Na(+)/H(+) exchanger isoform 6 is found in recycling endosomes of cells, not in mitochondria;Brett;Am J Cell Physiol,2002

3. A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro;Carter;J Biol Chem,1995

4. X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred in localized to Xq24-q27;Christianson;J Med Genet,1999

5. The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology;Dindot;Hum Mol Genet,2008

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1. Clinical and genetic analysis of Christianson syndrome caused by variant of SLC9A6: case report and literature review;Frontiers in Neurology;2023-05-05

2. Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report;Medicina;2022-02-26

3. Case Report: Novel SLC9A6 Splicing Variant in a Chinese Boy With Christianson Syndrome With Electrical Status Epilepticus During Sleep;Frontiers in Neurology;2022-01-14

4. Deletion of the sodium/hydrogen exchanger 6 causes low bone volume in adult mice;Bone;2021-12

5. Christianson syndrome: A novel splicing variant of SLC9A6 causes exon skipping in a Chinese boy and a literature review;Journal of Clinical Laboratory Analysis;2021-11-17

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