Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 mouse models of CdLS to examine how transcriptional changes caused by Nipbl deficiency give rise to limb defects, a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Animals, Genetically Modified
Share to Chromatin

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Extremities

Share to Genes, Homeobox

Share to Haploinsufficiency

Share to Organogenesis

Share to Zebrafish

Share to Zebrafish Proteins

Source

Open in PubMed Open full text

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Nipbl and mediator cooperatively regulate gene expression to control limb development.PMID 25255084Read ↗

Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome.Semantic proximity Read ↗

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

The effect of Nipped-B-Like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange SyndromeSemantic proximity Read ↗

Cornelia de Lange Syndrome: NIPBL haploinsufficiency downregulates canonical Wnt pathway in zebrafish embryos and patients fibroblasts.Semantic proximity Read ↗

Interaction between long-range chromatin regulators <i>Nipbl</i> & <i>Isl1</i> synergistically drives heart defects in miceSemantic proximity Read ↗

A cohesin-independent role for NIPBL at promoters provides insights in CdLS.Semantic proximity Read ↗

Defects of cohesin loader lead to bone dysplasia associated with transcriptional disturbance.Semantic proximity Read ↗

Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity.Semantic proximity Read ↗

Reduction of Nipbl impairs cohesin loading locally and affects transcription but not cohesion-dependent functions in a mouse model of Cornelia de Lange Syndrome.Semantic proximity Read ↗

Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element.Semantic proximity Read ↗

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.Semantic proximity Read ↗

Dissecting the functions of NIPBL using genome editing: The importance of the N-terminus of NIPBL in transcriptional regulationSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.