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

Cohesin and human disease.

Annual review of genomics and human genetics - 1 Jan 2008

Liu Jinglan, Krantz Ian D

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a dominant multisystem disorder caused by a disruption of cohesin function. The cohesin ring complex is composed of four protein subunits and more than 25 additional proteins involved in its regulation. The discovery that this complex also has a fundamental role in long-range regulation of transcription in Drosophila has shed light on the mechanism likely responsible for its...

Read the complete abstract on PubMed

Topics

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

Share to alpha-Thalassemia
Share to Chromatin Assembly and Disassembly
Share to Chromosomal Proteins, Non-Histone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cohesins

Share to De Lange Syndrome

Share to Ectromelia

Share to Transcriptional Activation

Share to X-Linked Intellectual Disability

Source

Open in PubMed Open full text

Identifiers

PMID: 18767966
DOI: 10.1146/annurev.genom.9.081307.164211
PMCID: PMC4894839

Genes

ESCO2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cohesin and human disease.PMID 18767966Read ↗

Cornelia de Lange syndrome, cohesin, and beyond.Semantic proximity Read ↗

Cohesinopathies: One ring, many obligations.Semantic proximity Read ↗

Cornelia de Lange syndrome.Semantic proximity Read ↗

The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer.Semantic proximity Read ↗

Cornelia de Lange Syndrome as Paradigm of ChromatinopathiesSemantic proximity Read ↗

Gene regulation and chromatin organization: relevance of cohesin mutations to human disease.Semantic proximity Read ↗

Cohesin and human disease: lessons from mouse models.Semantic proximity Read ↗

Rings and Bricks: Expression of Cohesin Components is Dynamic during Development and Adult Life.Semantic proximity Read ↗

Esco2 and Cohesin Regulate CRL4 Ubiquitin Ligase <i>ddb1</i> Expression and Thalidomide TeratogenicitySemantic proximity Read ↗

RAD21 mutations cause a human cohesinopathy.Semantic proximity Read ↗

Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach.Semantic proximity Read ↗

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.Semantic proximity Read ↗

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