Novel compound heterozygous missense variants in TOE1 gene associated with pontocerebellar hypoplasia type 7-Reference-Cited by-同舟云学术

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Novel compound heterozygous missense variants in TOE1 gene associated with pontocerebellar hypoplasia type 7

Published:2023-04 Issue: Volume:862 Page:147250
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Wang Chun,Ge Yusong,Li Runjie,He Guiyuan,Lin Yongzhong

Funder

Department of Science and Technology of Liaoning Province

Dalian Science and Technology Bureau

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference22 articles.

1. Early pontocerebellar hypoplasia with vanishing testes: a new syndrome?;Anderson;Am. J. Med. Genet. A,2011

2. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia;Budde;Nat. Genet.,2008

3. Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype;Chen;Neurogenetics,2022

4. TOE1 acts as a 3' exonuclease for telomerase RNA and regulates telomere maintenance;Deng;Nucleic Acids Res.,2019

5. Mutation of a U2 snRNA gene causes global disruption of alternative splicing and neurodegeneration;Jia;Cell,2012

Cited by 6 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. Male Infertility Mediated by Gene Mutations;Male-mediated Developmental Toxicity;2024-07-01

2. Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study;The Cerebellum;2024-04-15

3. Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7;Journal of Human Genetics;2024-04-11

4. Case report: A severe clinical phenotype of pontocerebellar hypoplasia type 7 with compound heterozygous variants of TOE1;Heliyon;2024-04

5. The PARN, TOE1, and USB1 RNA deadenylases and their roles in non-coding RNA regulation;Journal of Biological Chemistry;2023-09

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