Evidence map›Paper›PMID 34827619›Full record

ArticleBiomolecules2021

Cohesin Mutations Induce Chromatin Conformation Perturbation of the

Silvana Pileggi, Marta La Vecchia, Elisa Adele Colombo, Laura Fontana, Patrizia Colapietro, Davide Rovina, Annamaria Morotti, Silvia Tabano, Giovanni Porta, Myriam Alcalay and 3 more

Open access · goldAbstract read
In one paragraph

Article in Biomolecules, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.7field-weighted citation impact, top 25% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion.Proceedings of the National Academy of Sciences of the United States of America · 2022
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors at 3 institutions in 1 country.

Silvana PileggiMedical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milano, Italy.ORCID 0000-0002-4306-9476
Marta La VecchiaMedical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milano, Italy.ORCID 0000-0002-1103-6223
Elisa Adele ColomboMedical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milano, Italy.ORCID 0000-0001-9062-3188
Laura FontanaMedical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milano, Italy.ORCID 0000-0001-9517-6997
Patrizia ColapietroDepartment of Pathophysiology and Transplantation, Medical Genetics, Università degli Studi di Milano, 20122 Milan, Italy.
Davide RovinaMedical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milano, Italy.
Annamaria MorottiResearch Laboratories Coordination Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy.ORCID 0000-0002-4247-4365
Silvia TabanoDepartment of Pathophysiology and Transplantation, Medical Genetics, Università degli Studi di Milano, 20122 Milan, Italy.ORCID 0000-0002-5260-6691
Giovanni PortaCentro di Medicina Genomica, Department of Medicine and Surgery, Università degli Studi dell'Insubria, 21100 Varese, Italy.
Myriam AlcalayDepartment of Experimental Oncology, IEO European Institute of Oncology IRCCS, 20139 Milan, Italy.ORCID 0000-0002-5558-4272
Cristina GervasiniMedical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milano, Italy.ORCID 0000-0002-1165-7935
Monica MiozzoMedical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milano, Italy.
Silvia Maria SirchiaMedical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milano, Italy.ORCID 0000-0002-6106-3721
University of Milan · ITFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico · ITUniversity of Insubria · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Traditionally, Cornelia de Lange Syndrome (CdLS) is considered a cohesinopathy caused by constitutive mutations in cohesin complex genes. Cohesin is a major regulator of chromatin architecture, including the formation of chromatin loops at the imprinted

Indexed as

Cell Cycle ProteinsChromatinChromosomal Proteins, Non-HistoneCohesinsDe Lange SyndromeGenomic ImprintingInsulin-Like Growth Factor IIMutationCell LineDNA MethylationGene Expression RegulationHumansRNA, Long NoncodingStructural Maintenance of Chromosome Protein 1Wnt Signaling PathwayCell Cycle ProteinsChromatinChromosomal Proteins, Non-HistoneCohesinsH19 long non-coding RNAIGF2 protein, humanInsulin-Like Growth Factor IINIPBL protein, humanRNA, Long NoncodingStructural Maintenance of Chromosome Protein 13D chromatin conformationcohesinCornelia de Lange SyndromeIGF2/H19 domainimprinted genesWNT pathway

Identifiers

PMID34827619
PMCPMC8615450
OpenAlexW3210103887

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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 Socratic graph.