Evidence map›Paper›PMID 28538178›Full record

ArticleCell reports2017

Wolf-Hirschhorn Syndrome Candidate 1 Is Necessary for Correct Hematopoietic and B Cell Development.

Elena Campos-Sanchez, Nerea Deleyto-Seldas, Veronica Dominguez, Enrique Carrillo-de-Santa-Pau, Kiyoe Ura, Pedro P Rocha, JungHyun Kim, Arafat Aljoufi, Anna Esteve-Codina, Marc Dabad and 7 more

Open access · goldAbstract read
In one paragraph

Article in Cell reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed
3.3field-weighted citation impact, top 8% 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

22 citing papers in PubMed, 38 citations in OpenAlex.

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  6. Loss of function inGenetics in medicine open · 2024
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  10. NSD2 as a Promising Target in Hematological Disorders.International journal of molecular sciences · 2022
    Review
  11. The role of NSD1, NSD2, and NSD3 histone methyltransferases in solid tumors.Cellular and molecular life sciences : CMLS · 2022
    Review
  12. SALL4 Oncogenic Function in Cancers: Mechanisms and Therapeutic Relevance.International journal of molecular sciences · 2022
    Review
  13. Article
  14. Review
  15. Article
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  17. Article
  18. Do microdeletions lead to immune deficiency?Central-European journal of immunology · 2020
    Article
  19. Epigenetic Priming in Immunodeficiencies.Frontiers in cell and developmental biology · 2019
    Review
  20. 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

17 authors at 9 institutions in 3 countries.

Elena Campos-SanchezDepartment of Cell Biology and Immunology, Centro de Biologia Molecular Severo Ochoa (CBMSO), CSIC/UAM, Madrid 28049, Spain.
Nerea Deleyto-SeldasDepartment of Cell Biology and Immunology, Centro de Biologia Molecular Severo Ochoa (CBMSO), CSIC/UAM, Madrid 28049, Spain.
Veronica DominguezTransgenesis Service CNB-CBMSO CSIC/UAM, Madrid 28049, Spain.
Enrique Carrillo-de-Santa-PauEpithelial Carcinogenesis Group, Cancer Cell Biology Programme, Spanish National Cancer Research Centre (CNIO), Madrid 28029, Spain.
Kiyoe UraDepartment of Biology, Graduate School of Science, Chiba University, Yayoicho, Inage-ku, Chiba 263-8522, Japan.
Pedro P RochaDepartment of Pathology, New York University School of Medicine, New York, NY 10016, USA.
JungHyun KimDepartment of Pathology, New York University School of Medicine, New York, NY 10016, USA.
Arafat AljoufiDepartment of Pathology, New York University School of Medicine, New York, NY 10016, USA.
Anna Esteve-CodinaCNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona 08028, Spain; Universitat Pompeu Fabra (UPF), Barcelona 08002, Spain.
Marc DabadCNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona 08028, Spain; Universitat Pompeu Fabra (UPF), Barcelona 08002, Spain.
Marta GutCNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona 08028, Spain; Universitat Pompeu Fabra (UPF), Barcelona 08002, Spain.
Holger HeynCNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona 08028, Spain; Universitat Pompeu Fabra (UPF), Barcelona 08002, Spain.
Yasufumi KanedaDivision of Gene Therapy Science, Graduate School of Medicine, Osaka University, Yamada-oka, Suita, Osaka 565-0871, Japan.
Keisuke NimuraDivision of Gene Therapy Science, Graduate School of Medicine, Osaka University, Yamada-oka, Suita, Osaka 565-0871, Japan.
Jane A SkokDepartment of Pathology, New York University School of Medicine, New York, NY 10016, USA.
Maria Luisa Martinez-FriasECEMC (Spanish Collaborative Study of Congenital Malformations), Madrid 28029, Spain; CIAC (Research Center on Congenital Anomalies), Institute of Health Carlos III (ISCIII), Madrid 28029, Spain; CIBER de Enfermedades Raras (CIBERER), U724, Madrid 28029, Spain.
Cesar CobaledaDepartment of Cell Biology and Immunology, Centro de Biologia Molecular Severo Ochoa (CBMSO), CSIC/UAM, Madrid 28049, Spain. Electronic address: cesar.cobaleda@csic.es.
New York University · USPompeu Fabra University · ESUniversidad Autónoma de Madrid · ESOsaka University · JPCentre for Genomic Regulation · ESCentro de Biología Molecular Severo Ochoa · ESChiba University · JPInstituto de Investigación de Enfermedades Raras · ESSpanish National Cancer Research Centre · ES

Funding

Role Of Nuclear Organization In Protecting Genome Stability During RecombinationR01GM086852 · NIGMS · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI KLUGER, YUVAL, SKOK, JANE AMANDA · 2008 to 2016
$3.8M
Enhancer Driven Gene Regulation During Lymphocyte DevelopmentR01GM112192 · NIGMS · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI SKOK, JANE AMANDA · 2014 to 2016
$1.6M
A novel role for 53BP1 independent of damage that controls chromatin structureK99GM117302 · NIGMS · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI ROCHA, PEDRO P · 2016 to 2017
$180k
NIGMS NIH HHS K99 GM117302NIGMS NIH HHS R01 GM086852NIGMS NIH HHS R01 GM112192
6 · The paper itself

Abstract

Immunodeficiency is one of the most important causes of mortality associated with Wolf-Hirschhorn syndrome (WHS), a severe rare disease originated by a deletion in chromosome 4p. The WHS candidate 1 (WHSC1) gene has been proposed as one of the main genes responsible for many of the alterations in WHS, but its mechanism of action is still unknown. Here, we present in vivo genetic evidence showing that Whsc1 plays an important role at several points of hematopoietic development. Particularly, our results demonstrate that both differentiation and function of Whsc1-deficient B cells are impaired at several key developmental stages due to profound molecular defects affecting B cell lineage specification, commitment, fitness, and proliferation, demonstrating a causal role for WHSC1 in the immunodeficiency of WHS patients.

Indexed as

AnimalsApoptosisB-LymphocytesCell CycleCell DifferentiationCell ProliferationDNA ReplicationGerminal CenterHematopoiesisHematopoietic Stem CellsHeterozygoteHistone-Lysine N-MethyltransferaseMiceRecombination, GeneticStress, PhysiologicalWolf-Hirschhorn SyndromeHistone-Lysine N-MethyltransferaseWHSC1 protein, mouseB cell developmentcell cycleclass-switch recombinationH3K36 methylationhematopoiesishematopoietic stem cellsimmunodeficiencyreplicative stressWolf-Hirschhorn syndrome

Identifiers

PMID28538178
PMCPMC5510986
OpenAlexW2618328361

What OpenQuestion holds

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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 OpenQuestion graph.