Literature DB >> 30311943

Emery-Dreifuss muscular dystrophy-related myopathy with TMEM43 mutations.

Taiji Mukai1,2, Madoka Mori-Yoshimura1, Atsuko Nishikawa3,4, Keiichi Hokkoku5, Masahiro Sonoo5, Ichizo Nishino3,4, Yuji Takahashi1.   

Abstract

Entities:  

Keywords:  Emery-Dreifuss muscular dystrophy-related myopathy (EDMD-related myopathy); TMEM43 mutations; autosomal dominant inheritance; filioparental case; joint contracture

Mesh：

Substances：

Year:  2018        PMID： 30311943     DOI： 10.1002/mus.26355

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN： 0148-639X            Impact factor:   3.217


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  3 in total

1.  Evolution and diversification of the nuclear envelope.

Authors:  Norma E Padilla-Mejia; Alexandr A Makarov; Lael D Barlow; Erin R Butterfield; Mark C Field
Journal:  Nucleus       Date:  2021-12       Impact factor: 4.197

2.  Systems genetics analysis defines importance of TMEM43/LUMA for cardiac- and metabolic-related pathways.

Authors:  Qingqing Gu; Fuyi Xu; Buyan-Ochir Orgil; Zaza Khuchua; Undral Munkhsaikhan; Jason N Johnson; Neely R Alberson; Joseph F Pierre; Dennis D Black; Deli Dong; Jaclyn A Brennan; Brianna M Cathey; Igor R Efimov; Jeffrey A Towbin; Enkhsaikhan Purevjav; Lu Lu
Journal:  Physiol Genomics       Date:  2021-11-12       Impact factor: 3.107

3.  Altered Expression of TMEM43 Causes Abnormal Cardiac Structure and Function in Zebrafish.

Authors:  Miriam Zink; Anne Seewald; Mareike Rohrbach; Andreas Brodehl; Daniel Liedtke; Tatjana Williams; Sarah J Childs; Brenda Gerull
Journal:  Int J Mol Sci       Date:  2022-08-23       Impact factor: 6.208
  3 in total

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