ReviewCell cycle (Georgetown, Tex.)2019
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Review in Cell cycle (Georgetown, Tex.), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers.
What it found
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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
59 citing papers in PubMed, 86 citations in OpenAlex.
- Diverse Roles of Cohesin in Chromosome Dynamics and Stem Cells.Biotech (Basel (Switzerland)) · 2026Review
- Cohesin cofactor dosage sets the rate of loop extrusion, rendering genome folding tunable yet vulnerable to genetic disruption.Molecular cell · 2026Article
- Pds5 regulates sister chromatid cohesion by controlling cohesin ATPase activity through the Eco1-Smc3 acetylation pathway.Nucleic acids research · 2026Article
- Article
- Clinical,medRxiv : the preprint server for health sciences · 2026Article
- Dopamine neuron specific RNA-sequencing reveals Neprilysin 1 acts downstream of the cohesin complex to suppress learning.Communications biology · 2026Article
- S-phase PARylation of microprotein RSMC enhances the function of Sororin in sister chromatid cohesion.The EMBO journal · 2026Article
- RETRACTED: SHP2 improved Late-onset fetal growth restriction via modulating ROS/BRD4/PI3K/YAP/PIGF signaling induced angiogenesis.PloS one · 2026Article
- Cohesin protein Smc3 influences kinocilial structure and function.Biology open · 2025Article
- A Novel STAG2 Frameshift Variant in Mullegama-Klein-Martinez Syndrome with Complex Conotruncal Heart Defect.Genes · 2025Article
- Chronic atrial and intestinal dysrythmia syndrome: A late-onset intestinal pseudo-obstruction and cardiac dysfunction due to an SGO1 mutation.JPGN reports · 2025Article
- Non-Classic Cornelia de Lange Syndrome Due toChildren (Basel, Switzerland) · 2025Review
- Dosage sensitivity of the loop extrusion rate confers tunability to genome folding while creating vulnerability to genetic disruption.bioRxiv : the preprint server for biology · 2025Article
- Panretinal Congenital Hypertrophy of the RPE in an 8-Year-Old Girl with an X-Linked STAG2 Mutation.Journal of clinical medicine · 2025Article
- Sex-specific modulation of anxiety-like behavior by forebrain neuronal SMC3 in mice.Translational psychiatry · 2025Article
- Neurological Disease Syndrome Caused by a STAG1 Gene Variant: A Case Report and Literature Review.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2025Review
- Chronic atrial and intestinal dysrhythmia: A rare genetic disorder of intestinal pseudo-obstruction.JPGN reports · 2025Article
- A novel frameshiftFrontiers in pediatrics · 2025Article
- Structural Maintenance of Chromosomes Complexes.Methods in molecular biology (Clifton, N.J.) · 2025Review
- Mosaic variegated aneuploidy in development, ageing and cancer.Nature reviews. Genetics · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Preservation and development of life depend on the adequate segregation of sister chromatids during mitosis and meiosis. This process is ensured by the cohesin multi-subunit complex. Mutations in this complex have been associated with an increasing number of diseases, termed cohesinopathies. The best characterized cohesinopathy is Cornelia de Lange syndrome (CdLS), in which intellectual and growth retardations are the main phenotypic manifestations. Despite some overlap, the clinical manifestations of cohesinopathies vary considerably. Novel roles of the cohesin complex have emerged during the past decades, suggesting that important cell cycle regulators exert important biological effects through non-cohesion-related functions and broadening the potential pathomechanisms involved in cohesinopathies. This review focuses on non-cohesion-related functions of the cohesin complex, gene dosage effect, epigenetic regulation and TGF-β in cohesinopathy context, especially in comparison to
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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.