Literature DB >> 24610938

Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy.

Royston W Ong1, Abdulaziz AlSaman2, Duygu Selcen3, Arash Arabshahi1, Kyle S Yau1, Gianina Ravenscroft1, Rachael M Duff1, Vanessa Atkinson4, Richard J Allcock5, Nigel G Laing6.   

Abstract

Entities:  

Keywords:  GENETICS; NEUROMUSCULAR

Mesh：

Substances：

Year:  2014        PMID： 24610938     DOI： 10.1136/jnnp-2014-307608

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  6 in total

1.  Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype.

Authors:  Samantha M Rosen; Mugdha Joshi; Talia Hitt; Alan H Beggs; Pankaj B Agrawal
Journal:  Hum Mol Genet       Date:  2020-07-29       Impact factor: 6.150

2.  Clinical utility gene card for: Nemaline myopathy - update 2015.

Authors:  Kristen J Nowak; Mark R Davis; Carina Wallgren-Pettersson; Phillipa J Lamont; Nigel G Laing
Journal:  Eur J Hum Genet       Date:  2015-02-25       Impact factor: 4.246

Review 3.  Overview of the Muscle Cytoskeleton.

Authors:  Christine A Henderson; Christopher G Gomez; Stefanie M Novak; Lei Mi-Mi; Carol C Gregorio
Journal:  Compr Physiol       Date:  2017-06-18       Impact factor: 9.090

4.  Global Transcriptomic Profiling of Cardiac Hypertrophy and Fatty Heart Induced by Long-Term High-Energy Diet in Bama Miniature Pigs.

Authors:  Jihan Xia; Yuanyuan Zhang; Leilei Xin; Siyuan Kong; Yaoxing Chen; Shulin Yang; Kui Li
Journal:  PLoS One       Date:  2015-07-10       Impact factor: 3.240

5.  Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration.

Authors:  Sarah U Morton; Mugdha Joshi; Talia Savic; Alan H Beggs; Pankaj B Agrawal
Journal:  PLoS One       Date:  2015-04-13       Impact factor: 3.240

6.  Cofilin Loss in Drosophila Muscles Contributes to Muscle Weakness through Defective Sarcomerogenesis during Muscle Growth.

Authors:  Mridula Balakrishnan; Shannon F Yu; Samantha M Chin; David B Soffar; Stefanie E Windner; Bruce L Goode; Mary K Baylies
Journal:  Cell Rep       Date:  2020-07-21       Impact factor: 9.423
  6 in total

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