Antisense may make sense of 1q44 deletions, seizures, andHNRNPU
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35770/fullpdf
Reference21 articles.
1. High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44;Ballif;Hum Genet,2012
2. Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum;Boland;Am J Hum Genet,2007
3. Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene;Caliebe;Eur J Med Genet,2010
4. Submicroscopic subtelomeric 1qter deletions: A recognisable phenotype;De Vries;J Med Genet,2001
5. FISH and cytogenetic characterization of a terminal chromosome 1q deletion: Clinical case report and phenotypic implications;Gentile;Am J Med Genet Part A,2003
Cited by 12 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. Loss of HNRNPU in Skeletal Muscle Increases Intramuscular Infiltration of Ly6C Positive Cells, leading to Muscle Atrophy through Activation of NF‐κB Signaling;Advanced Biology;2024-05-26
2. Characterization and functional analysis of chicken dsRNA binding protein hnRNPU;Developmental & Comparative Immunology;2023-01
3. The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review;Frontiers in Genetics;2019-02-22
4. Control of CNS Functions by RNA-Binding Proteins in Neurological Diseases;Current Pharmacology Reports;2018-05-02
5. HNRNPU: Key to Neurodevelopmental Disorders such as Intellectual Delay, Epilepsy, and Autism;Molecular Syndromology;2018
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3