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Article

Nipbl and mediator cooperatively regulate gene expression to control limb development.

PLoS genetics - 1 Sept 2014

Muto Akihiko, Ikeda Shingo, Lopez-Burks Martha E, Kikuchi Yutaka, Calof Anne L, Lander Arthur D, Schilling Thomas F

Abstract excerpt

Haploinsufficiency for Nipbl, a cohesin loading protein, causes Cornelia de Lange Syndrome (CdLS), the most common "cohesinopathy". It has been proposed that the effects of Nipbl-haploinsufficiency result from disruption of long-range communication between DNA elements. Here we use zebrafish and...

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Identifiers

PMID: 25255084
DOI: 10.1371/journal.pgen.1004671
PMCID: PMC4177752

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25255084-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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