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Loss of Hierarchical Imprinting Regulation at the Prader-Willi/Angelman Syndrom...

Pólvora-Brandão, D; Joaquim, M; Godinho, I; Aprile, D; Álvaro, AR; Onofre, I; Raposo, AC; Pereira de Almeida, L; Duarte, ST; da Rocha, ST

The human chr15q11-q13 imprinted cluster is linked to several disorders, including Prader-Willi (PWS) and Angelman (AS) syndromes. Recently, disease modeling approaches based on induced pluripotent stem cells (iPSCs) have been used to study these syndromes. A concern regarding the use of these cells for imprinted disease modeling is the numerous imprinting defects found in many iPSCs. Here, by reprogramming ski...

Date: 2018   |   Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
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