Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy

Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy

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http://www.wikidata.org/entity/Q34765297
Pathogenic mechanisms in centronuclear myopathiesRespiratory assessment in centronuclear myopathiesPathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focusBridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy.From caveman companion to medical innovator: genomic insights into the origin and evolution of domestic dogs.Cardiac BIN1 folds T-tubule membrane, controlling ion flux and limiting arrhythmia.X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 geneStructural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2.In silico to in vivo splicing analysis using splicing code models.Amphiphysin 2 (BIN1) in physiology and diseases.Emerging roles of junctophilin-2 in the heart and implications for cardiac diseases.Suspected congenital centronuclear myopathy in an Arabian-cross foal.Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation.Diversification of the muscle proteome through alternative splicing.Centronuclear myopathies under attack: A plethora of therapeutic targetsTamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy
P2860

Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy

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http://www.wikidata.org/entity/Q34765297
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2013 nî lūn-bûn
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2013 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2013年の論文
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2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
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2013年论文
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name
Altered splicing of the BIN1 m ...... ressive centronuclear myopathy
@ast
Altered splicing of the BIN1 m ...... ressive centronuclear myopathy
@en
Altered splicing of the BIN1 m ...... ressive centronuclear myopathy
@nl
type
label
Altered splicing of the BIN1 m ...... ressive centronuclear myopathy
@ast
Altered splicing of the BIN1 m ...... ressive centronuclear myopathy
@en
Altered splicing of the BIN1 m ...... ressive centronuclear myopathy
@nl
prefLabel
Altered splicing of the BIN1 m ...... ressive centronuclear myopathy
@ast
Altered splicing of the BIN1 m ...... ressive centronuclear myopathy
@en
Altered splicing of the BIN1 m ...... ressive centronuclear myopathy
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Altered splicing of the BIN1 m ...... ressive centronuclear myopathy
@en
P2093
P2860
P304
P31
P356
10.1371/JOURNAL.PGEN.1003430
P433
P478
P50
P577
P5875
P698
P932