Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome.

Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome.

Cornelia de Lange Syndrome (CdLS) is a multi-organ system birth defects disorder linked, in at least half of cases, to heterozygous mutations in the NIPBL gene. In animals and fungi, orthologs of NIPBL regulate cohesin, a complex of proteins that is essential for chromosome cohesion and is also impl...

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Bibliographic Details
Main Authors: Shimako Kawauchi, Anne L Calof, Rosaysela Santos, Martha E Lopez-Burks, Clint M Young, Michelle P Hoang, Abigail Chua, Taotao Lao, Mark S Lechner, Jeremy A Daniel, Andre Nussenzweig, Leonard Kitzes, Kyoko Yokomori, Benedikt Hallgrimsson, Arthur D Lander
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2009-09-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC2730539?pdf=render

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http://europepmc.org/articles/PMC2730539?pdf=render

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