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

Defects of cohesin loader lead to bone dysplasia associated with transcriptional disturbance.

Journal of cellular physiology - 1 Dec 2021

Gu Weihuai, Wang Lihong, Gu Renjie, Ouyang Huiya, Bao Baicheng, Zheng Liwei, Xu Baoshan

Abstract excerpt

Cohesin loader nipped-B-like protein (Nipbl) is increasingly recognized for its important role in development and cancer. Cornelia de Lange Syndrome (CdLS), mostly caused by heterozygous mutations of Nipbl, is an autosomal dominant disease characterized by multiorgan malformations. However, the regulatory role and underlying mechanism of Nipbl in skeletal development remain largely elusive. In this study, we...

Read the complete abstract on PubMed

Topics

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

Share to Bone Diseases, Developmental
Share to Chromosome Segregation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to De Lange Syndrome

Share to Fibroblasts

Share to Heterozygote

Share to Osteogenesis

Share to Transcription, Genetic

Share to Zebrafish

Source

Identifiers

PMID: 34170011
DOI: 10.1002/jcp.30491

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Defects of cohesin loader lead to bone dysplasia associated with transcriptional disturbance.PMID 34170011Read ↗

NIPBL+/- haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states.Semantic proximity Read ↗

The cohesin loader NIPBL interacts with pre-ribosomal RNA and treacle to regulate ribosomal RNA synthesisSemantic proximity Read ↗

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

The NIPBL-gene mutation of a Cornelia de Lange Syndrome patient causes deficits in the hepatocyte differentiation of induced Pluripotent Stem Cells via altered chromatin-accessibility.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 ↗

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

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

FGFR2 mutations in bent bone dysplasia syndrome activate nucleolar stress and perturb cell fate determination.Semantic proximity Read ↗

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

Cornelia de Lange Syndrome as Paradigm of ChromatinopathiesSemantic proximity Read ↗

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

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