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Literature DB >> 14569138

A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B.

A Todorova¹, B Halliger-Keller, M C Walter, M-C Dabauvalle, H Lochmüller, C R Müller.

Abstract

Entities: Disease Gene

Mesh：

Substances：
Lamins
RNA, Messenger

Year: 2003 PMID： 14569138 PMCID： PMC1735280 DOI： 10.1136/jmg.40.10.e115

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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Cited

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7 in total

1. A new LMNA mutation causing limb girdle muscular dystrophy 1B.

Authors: Simone Spuler; Christian Geier; Karl Josef Osterziel; Matthias Gutberlet; Janine Genschel; Thomas-Nicolas Lehmann; Sophie Zinn-Justin; Bernard Gilquin; Hartmut Schmidt
Journal: J Neurol Date: 2005-03-29 Impact factor: 4.849

2. A precise and efficient adenine base editor.

Authors: Tianxiang Tu; Zongming Song; Xiaoyu Liu; Shengxing Wang; Xiaoxue He; Haitao Xi; Jiahua Wang; Tong Yan; Haoran Chen; Zhenwu Zhang; Xiujuan Lv; Jineng Lv; Xiu-Feng Huang; Junzhao Zhao; Chao-Po Lin; Caixia Gao; Jinwei Zhang; Feng Gu
Journal: Mol Ther Date: 2022-07-12 Impact factor: 12.910

Review 7. Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes.

Authors: Iria Roca; Ana Fernández-Marmiesse; Sofía Gouveia; Marta Segovia; María L Couce
Journal: Int J Mol Sci Date: 2018-05-27 Impact factor: 5.923

7 in total

A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B.

1. A new LMNA mutation causing limb girdle muscular dystrophy 1B.

2. A precise and efficient adenine base editor.

3. Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?

4. Emerging Roles of Alternative Pre-mRNA Splicing Regulation in Neuronal Development and Function.

5. Purifying selection in deeply conserved human enhancers is more consistent than in coding sequences.

6. Cardioembolic stroke related to limb-girdle muscular dystrophy 1B.

Review 7. Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes.