Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor-Reference-Cited by-同舟云学术

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor

Published:2020-02-11 Issue: Volume:13 Page:
ISSN:1662-5099
Container-title:Frontiers in Molecular Neuroscience
language:
Short-container-title:Front. Mol. Neurosci.

Author:

Kumar Raman,Palmer Elizabeth,Gardner Alison E.,Carroll Renee,Banka Siddharth,Abdelhadi Ola,Donnai Dian,Elgersma Ype,Curry Cynthia J.,Gardham Alice,Suri Mohnish,Malla Rishikesh,Brady Lauren Ilana,Tarnopolsky Mark,Azmanov Dimitar N.,Atkinson Vanessa,Black Michael,Baynam Gareth,Dreyer Lauren,Hayeems Robin Z.,Marshall Christian R.,Costain Gregory,Wessels Marja W.,Baptista Julia,Drummond James,Leffler Melanie,Field Michael,Gecz Jozef

Funder

National Health and Medical Research Council

Publisher

Frontiers Media SA

Subject

Cellular and Molecular Neuroscience,Molecular Biology

Reference39 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010

2. Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping;Amos;Clin. Genet.,2017

3. Identification of 315 genes essential for early zebrafish development;Amsterdam;Proc. Natl. Acad. Sci. U S A,2004

4. Intellectual disability associated with a homozygous missense mutation in THOC6;Beaulieu;Orphanet J. Rare Dis.,2013

5. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member;Brook;Cell,1992

Cited by 14 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. Analgesic targets identified in mouse sensory neuron somata and terminal pain translatomes;Cell Reports;2024-08

2. Unveiling a Novel THOC2 Mutation's Role in X-linked Intellectual Disability;International Journal of Biomedicine;2024-06-05

3. High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma;Investigative Opthalmology & Visual Science;2024-03-19

4. Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment;Nature Communications;2024-02-08

5. Analgesic targets identified in mouse sensory neuron somata and terminal pain translatomes;2024-01-12