ReviewAnnual review of genomics and human genetics2008
Cohesin and human disease.
Review in Annual review of genomics and human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 80 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
80 citing papers in PubMed, 128 citations in OpenAlex.
- Genome folding and nuclear speckles converge to orchestrate fibroblast activation.Science advances · 2026Article
- Acute NIPBL depletion reveals in vivo dynamics of loop extrusion and its role in transcription activation.Nature genetics · 2026Article
- Epigenetic Regulation of Higher-Order Chromatin Structure (HOCS) and Its Implication in Human Diseases.Cancers · 2026Review
- The mitotic STAG3-cohesin complex shapes male germline nucleome.Nature structural & molecular biology · 2025Article
- Clinical Characteristics, Genetic Analysis, and Literature Review of Cornelia de Lange Syndrome Type 4 Associated With a RAD21 Variant.Molecular genetics & genomic medicine · 2024Review
- Cohesin composition and dosage independently affect early development in zebrafish.Development (Cambridge, England) · 2024Article
- BRD4 binds to active cranial neural crest enhancers to regulate RUNX2 activity during osteoblast differentiation.Development (Cambridge, England) · 2024Article
- ISW1a modulates cohesin distribution in centromeric and pericentromeric regions.Nucleic acids research · 2023Article
- Three-dimensional genome structure and function.MedComm · 2023Review
- An Update of Epigenetic Drugs for the Treatment of Cancers and Brain Diseases: A Comprehensive Review.Genes · 2023Review
- Identification of STAG2-Mutant Bladder Cancers by Immunohistochemistry.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Mitotic chromosomes.Seminars in cell & developmental biology · 2021Review
- Towards a Structural Mechanism for Sister Chromatid Cohesion Establishment at the Eukaryotic Replication Fork.Biology · 2021Review
- Role of the DDX11 DNA Helicase in Warsaw Breakage Syndrome Etiology.International journal of molecular sciences · 2021Review
- Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro-Caribbean family.Molecular genetics & genomic medicine · 2020Article
- Clustered Protocadherins Emerge as Novel Susceptibility Loci for Mental Disorders.Frontiers in neuroscience · 2020Review
- Understanding the 3D genome: Emerging impacts on human disease.Seminars in cell & developmental biology · 2019Review
- Spotlight on Warsaw Breakage Syndrome.The application of clinical genetics · 2019Review
- Review
- A quantitative analysis of cohesin decay in mitotic fidelity.The Journal of cell biology · 2018Article
20 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
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 role in development. In addition to the three cohesin proteins involved in CdLS, a second multisystem, recessively inherited, developmental disorder, Roberts-SC phocomelia, is caused by mutations in another regulator of the cohesin complex, ESCO2. Here we review the phenotypes of these disorders, collectively termed cohesinopathies, as well as the mechanism by which cohesin disruption likely causes these diseases.
Indexed as
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.