The SMN1 common variant c.22 dupA in Chinese patients causes spinal muscular atrophy by nonsense-mediated mRNA decay in humans-Reference-Cited by-同舟云学术

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The SMN1 common variant c.22 dupA in Chinese patients causes spinal muscular atrophy by nonsense-mediated mRNA decay in humans

Published:2018-02 Issue: Volume:644 Page:49-55
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Bai JinLi,Qu YuJin,Cao YanYan,Yang Lan,Ge Lin,Jin YuWei,Wang Hong,Song Fang

Funder

The National Key Research and Development Program of China

National Natural Science Foundation of China

CAMS Initiative for Innovative Medicine

Beijing Municipal Administration of Hospitals' Youth Program

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference30 articles.

1. Subtle mutation detection of SMN1 gene in Chinese spinal muscular atrophy patients: implication of molecular diagnostic procedure for SMN1 gene mutations;Bai;Genet. Test. Mol. Biomarkers,2014

2. Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage;Bateman;Hum. Mol. Genet.,2003

3. Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy;Brichta;Hum. Genet.,2008

4. Inhibition of nonsense-mediated mRNA decay by antisense morpholino oligonucleotides restores functional expression of hERG nonsense and frameshift mutations in long-QT syndrome;Gong;J. Mol. Cell. Cardiol.,2011

5. Mechanism and regulation of the nonsense-mediated decay pathway;Hug;Nucleic Acids Res.,2016

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. Spinal muscular atrophy caused by compound heterozygous SMN1 mutations: two cases and literature review;Neurological Sciences;2024-07-08

2. A Case of Long QT Syndrome with a De Novo Novel Nonsense Mutation（c.1490G>A, p.Trp497Ter）in the KCNH2 gene;Yamaguchi Medical Journal;2023-09-01

3. UPF1—From mRNA Degradation to Human Disorders;Cells;2023-01-27

4. Revealing diverse alternative splicing variants of the highly homologous SMN1 and SMN2 genes by targeted long-read sequencing;Molecular Genetics and Genomics;2022-05-25

5. Premature termination codons in SMN1 leading to spinal muscular atrophy trigger nonsense-mediated mRNA decay;Clinica Chimica Acta;2022-05

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