De NovoTruncating Mutation ofTRIM8Causes Early-Onset Epileptic Encephalopathy-Reference-Cited by-同舟云学术

De NovoTruncating Mutation ofTRIM8Causes Early-Onset Epileptic Encephalopathy

Published:2016-06-27 Issue:4 Volume:80 Page:235-240
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Sakai Yasunari¹,Fukai Ryoko²,Matsushita Yuki¹,Miyake Noriko²,Saitsu Hirotomo²,Akamine Satoshi¹,Torio Michiko¹,Sasazuki Momoko¹,Ishizaki Yoshito¹,Sanefuji Masafumi¹,Torisu Hiroyuki¹³,Shaw Chad A⁴,Matsumoto Naomichi²,Hara Toshiro¹

Affiliation:

1. Department of Pediatrics, Graduate School of Medical Sciences; Kyushu University; Fukuoka 812-8582 Japan

2. Department of Human Genetics; Yokohama City University School of Medicine; Yokohama 236-0004 Japan

3. Section of Pediatrics, Department of Medicine; Fukuoka Dental College; Fukuoka 814-0193 Japan

4. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston 77030 TX USA

Funder

JSPS KAKENHI

Life Science Foundation of Japan

Takeda Science Foundation

Japan Epilepsy Research Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ahg.12157/fullpdf

Reference14 articles.

1. A framework for variation discovery and genotyping using next-generation DNA sequencing data;Depristo;Nat Genet,2011

2. Activity level controls postsynaptic composition and signaling via the ubiquitin-proteasome system;Ehlers;Nat Neurosci,2003

3. De novo mutations in epileptic encephalopathies;Allen;Nature,2013

4. The role of neurexins and neuroligins in the formation, maturation, and function of vertebrate synapses;Krueger;Curr Opin Neurobiol,2012

5. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data;Mckenna;Genome Res,2010

Cited by 24 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Rare De Novo Mutation in the TRIM8 Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report;International Journal of Molecular Sciences;2024-04-19

2. Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders;eBioMedicine;2024-01

3. Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing;Epilepsia;2023-12-23

4. It’s a TRIM-endous view from the top: the varied roles of TRIpartite Motif proteins in brain development and disease;Frontiers in Molecular Neuroscience;2023-12-05

5. De novo truncating variants of TRIM8 and atypical neuro-renal syndrome: a case report and literature review;Italian Journal of Pediatrics;2023-04-15