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Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

✍ Scribed by Juliane Hoyer; Arif B. Ekici; Sabine Endele; Bernt Popp; Christiane Zweier; Antje Wiesener; Eva Wohlleber; Andreas Dufke; Eva Rossier; Corinna Petsch; Markus Zweier; Ina Göhring; Alexander M. Zink; Gudrun Rappold; Evelin Schröck; Dagmar Wieczorek; Olaf Riess; Hartmut Engels; Anita Rauch; André Reis


Book ID
113423189
Publisher
American Society of Human Genetics
Year
2012
Tongue
English
Weight
704 KB
Volume
90
Category
Article
ISSN
0002-9297

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Brg1, the ATPase subunit of the SWI/SNF
✍ Diana Vradii; Stefan Wagner; Diem N. Doan; Jeffrey A. Nickerson; Martin Montecin 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 406 KB

## Abstract Many mammalian SWI/SNF complexes use Brahma‐related gene 1 (Brg1) as a catalytic subunit to remodel nucleosomes for transcription regulation. In several mesenchymal cells and tissues, expression of a defective Brg1 protein negates the normal activity of the SWI/SNF complex and delays or