Inducible SMARCAL1 knockdown in iPSC reveals a link between replication stress and altered expression of master differentiation genes

Schimke immuno-osseous dysplasia is an autosomal recessive genetic osteochondrodysplasia characterized by dysmorphism, spondyloepiphyseal dysplasia, nephrotic syndrome and frequently T cell immunodeficiency. Several hypotheses have been proposed to explain the pathophysiology of the disease; however...

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Bibliographic Details
Main Authors: Giusj Monia Pugliese, Federico Salaris, Valentina Palermo, Veronica Marabitti, Nicolò Morina, Alessandro Rosa, Annapaola Franchitto, Pietro Pichierri
Format: Article
Language:English
Published: The Company of Biologists 2019-10-01
Series:Disease Models & Mechanisms
Subjects:
Online Access:http://dmm.biologists.org/content/12/10/dmm039487