Evidence map›Paper›PMID 31235600›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2019

Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility.

Andrew Robson, Svetlana Z Makova, Syndi Barish, Samir Zaidi, Sameet Mehta, Jeffrey Drozd, Sheng Chih Jin, Bruce D Gelb, Christine E Seidman, Wendy K Chung and 3 more

Open access · bronzeAbstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed
3.8field-weighted citation impact, top 6% 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

32 citing papers in PubMed, 60 citations in OpenAlex.

  1. Review
  2. Decoding RNF20: an epigenetic modifier and beyond.Frontiers in cell and developmental biology · 2026
    Review
  3. Review
  4. Review
  5. Article
  6. Article
  7. Review
  8. Epigenetics in Heart Failure.International journal of molecular sciences · 2024
    Review
  9. Article
  10. Review
  11. TAPVR: Molecular Pathways and Animal Models.Advances in experimental medicine and biology · 2024
    Review
  12. Total Anomalous Pulmonary Venous Connections, Human Genetics.Advances in experimental medicine and biology · 2024
    Review
  13. Article
  14. Article
  15. Review
  16. Review
  17. Article
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  20. Review
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 4 institutions in 1 country.

Andrew RobsonPediatric Genomics Discovery Program, Yale University School of Medicine, New Haven, CT 06510.
Svetlana Z MakovaDepartment of Pediatrics, Yale University School of Medicine, New Haven, CT 06510.
Syndi BarishDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06510.
Samir ZaidiDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06510.
Sameet MehtaDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06510.ORCID 0000-0002-3029-3217
Jeffrey DrozdDepartment of Pediatrics, Yale University School of Medicine, New Haven, CT 06510.
Sheng Chih JinDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06510.ORCID 0000-0002-5777-7262
Bruce D GelbThe Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Christine E SeidmanDivision of Cardiovascular Medicine, Brigham and Women's Hospital, Boston, MA 02115.ORCID 0000-0001-6380-1209
Wendy K ChungDepartment of Pediatrics, Columbia University Medical Center, New York, NY 10032.
Richard P LiftonDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06510.
Mustafa K KhokhaPediatric Genomics Discovery Program, Yale University School of Medicine, New Haven, CT 06510; mustafa.khokha@yale.edu martina.brueckner@yale.edu.
Martina BruecknerDepartment of Pediatrics, Yale University School of Medicine, New Haven, CT 06510; mustafa.khokha@yale.edu martina.brueckner@yale.edu.ORCID 0000-0003-0347-5389
Yale University · USBrigham and Women's Hospital · USChild Health and Development Institute · USColumbia University Irving Medical Center · US

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
NHLBI Pediatric Translational Consortium Administrative Coordinating CenterU01HL098188 · NHLBI · NEW ENGLAND RESEARCH INSTITUTES, INC. · PI HAMZA, TAYE, MILLER, JULIE ELAINE · 2009 to 2015
$41.3M
GENETICS AND GENOMICS OF HUMAN DISEASET32HD007149 · NICHD · YALE UNIVERSITY · PI James P Noonan · 1985 to 2026
$8.2M
Genetic determinants of human heterotaxy and aortic arch malformationU01HL098162 · NHLBI · YALE UNIVERSITY · PI BRUECKNER, MARTINA, GRUBER, PETER J · 2009 to 2024
$5.9M
Cilia in Heart Development and DiseaseR35HL145249 · NHLBI · YALE UNIVERSITY · PI BRUECKNER, MARTINA · 2019 to 2025
$5.2M
Molecular approaches to gene identification in congenital heart diseaseU01HL098163 · NHLBI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CHUNG, WENDY K, WARBURTON, DOROTHY P. · 2009 to 2014
$3.9M
A system approach to the analysis of Heterotaxy Candiate GenesR01HD081379 · NICHD · YALE UNIVERSITY · PI KHOKHA, MUSTAFA K · 2014 to 2018
$2.7M
The Genomic Basis of Congenital Heart Disease and Neurodevelopmental OutcomesUM1HL098147 · NHLBI · BOSTON CHILDREN'S HOSPITAL · PI NEWBURGER, JANE W., ROBERTS, AMY E · 2015 to 2019
$2.4M
Genetics of conotruncal defects and associated neurodevelopmental outcomesUM1HL098123 · NHLBI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI GELB, BRUCE D · 2015 to 2019
$2.3M
Intraciliary calcium directs cardiac left-right asymmetryR01HL125885 · NHLBI · YALE UNIVERSITY · PI BRUECKNER, MARTINA, SUN, ZHAOXIA · 2015 to 2018
$2.3M
Genetics and genomics of congenital heart disease and associated neurodevelopmental abnormalitiesUM1HL098162 · NHLBI · YALE UNIVERSITY · PI BRUECKNER, MARTINA, GUPTA, ABHA RANI · 2015 to 2019
$2.2M
Cardiac phenotyping of CHD candidate genes in XenopusR33HL120783 · NHLBI · YALE UNIVERSITY · PI BRUECKNER, MARTINA, KHOKHA, MUSTAFA K · 2016 to 2018
$1.6M
Howard Hughes Medical InstituteNCATS NIH HHS UL1 TR001863NHLBI NIH HHS K99 HL143036NHLBI NIH HHS R01 HL125885NHLBI NIH HHS R33 HL120783NHLBI NIH HHS R35 HL145249NHLBI NIH HHS U01 HL098162NHLBI NIH HHS U01 HL098163NHLBI NIH HHS U01 HL098188NHLBI NIH HHS UM1 HL098123NHLBI NIH HHS UM1 HL098147NHLBI NIH HHS UM1 HL098162NICHD NIH HHS R01 HD081379NICHD NIH HHS T32 HD007149NIH HHS S10 OD018521
6 · The paper itself

Abstract

Genomic analyses of patients with congenital heart disease (CHD) have identified significant contribution from mutations affecting cilia genes and chromatin remodeling genes; however, the mechanism(s) connecting chromatin remodeling to CHD is unknown. Histone H2B monoubiquitination (H2Bub1) is catalyzed by the RNF20 complex consisting of RNF20, RNF40, and UBE2B. Here, we show significant enrichment of loss-of-function mutations affecting H2Bub1 in CHD patients (enrichment 6.01,

Indexed as

AnimalsCell MovementCell ProliferationChromatin Assembly and DisassemblyCiliaDisease Models, AnimalEpigenesis, GeneticGene Expression Regulation, NeoplasticHeartHeart Defects, CongenitalHistonesHumansLoss of Function MutationMiceRegulatory Factor X Transcription FactorsSignal TransductionHistonesRegulatory Factor X Transcription FactorsRfx3 protein, mouseRNF20 protein, mouseRnf40 protein, mouseUbe2b protein, mouseUbiquitin-Conjugating EnzymesUbiquitin-Protein Ligasesciliacongenital heart diseasehistonesRNF20ubiquitination

Identifiers

PMID31235600
PMCPMC6628794
OpenAlexW2955083063

What OpenQuestion holds

Textmetadata
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 OpenQuestion graph.