Congenital myotonic dystrophy-an RNA-mediated disease across a developmental continuum.

Congenital myotonic dystrophy-an RNA-mediated disease across a developmental continuum.
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DOI:
10.1101/gad.302893.117
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发表时间:
2017-06-01
影响因子:
10.5
通讯作者:
Bradley RK
Bradley RK
中科院分区:
生物学1区
文献类型:
--
作者:
Jagannathan S;Bradley RK

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Jagannathan和布拉德利的这篇展望讨论了托马斯等人在本期发表的关于胎儿肌肉发育过程中转录后过程的研究,并描述了先天性肌强直性营养不良(CDM)中发育调节的选择性剪接和多聚腺苷酸化的严重失调。托马斯和他的同事们(第100页)。1122-1133)证实了先天性强直性肌营养不良(CDM)中发育调节的可变剪接和多腺苷酸化的严重失调。在这样做的过程中,他们还强调了这些转录后过程在正常胎儿肌肉发育过程中的重要性。最后,他们生成并表征了缺乏所有三种肌盲样蛋白的CDM小鼠模型。
This Outlook by Jagannathan and Bradley discusses the study published in this issue by Thomas et al. regarding post-transcriptional processes during fetal muscle development and describes the severe dysregulation of developmentally regulated alternative splicing and polyadenylation in congenital myotonic dystrophy (CDM). Thomas and colleagues (pp. 1122–1133) demonstrate severe dysregulation of developmentally regulated alternative splicing and polyadenylation in congenital myotonic dystrophy (CDM). In doing so, they also highlight the importance of these post-transcriptional processes during normal fetal muscle development. Finally, they generate and characterize a mouse model of CDM that lacks all three Muscleblind-like proteins.
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发表时间: 2017-06-01
影响因子: 10.5
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