一个长的ncRNA将副本数变异与FSHD肌肉发育不良症中的多/三胸部表观遗传开关联系起来

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Updated: May 11, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Daphne S Cabianca1, Valentina Casa, Beatrice Bodega

  • 1Dulbecco Telethon Institute at San Raffaele Scientific Institute, Division of Regenerative Medicine, Stem Cells, and Gene Therapy, Milan, Italy.

Cell
|May 1, 2012
PubMed
概括

面额-头皮-部肌肉发育不良 (FSHD) 涉及D4Z4重复变化. 在FSHD患者中发现的一种新型RNA,DBE-T,破坏了表观遗传沉默,导致基因去抑制和疾病进展.

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Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders10:28

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