Evidence map›Paper›PMID 33537682›Full record

ArticleHGG advances2021

Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome.

Emma Wakeling, Meriel McEntagart, Michael Bruccoleri, Charles Shaw-Smith, Karen L Stals, Matthew Wakeling, Angela Barnicoat, Clare Beesley, DDD Study, Andrea K Hanson-Kahn and 7 more

Abstract read
In one paragraph

Article in HGG advances, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
–field-weighted citation impact
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

13 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Review
  5. Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Review
  11. A family with brachydactyly mental retardation syndrome with a missense variant inClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2023
    Article
  12. Review
  13. 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.

Emma WakelingNorth East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London WC1N 3JH, UK.
Meriel McEntagartMedical Genetics, Floor 0 Jenner Wing, St George's University Hospitals NHS Foundation Trust, Cranmer Terrace, London SW17 0RE, UK.
Michael BruccoleriRosalind and Morris Goodman Cancer Research Centre, McGill University, Montreal, Quebec, QC H3A 1A3, Canada.
Charles Shaw-SmithDepartment of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter EX1 2ED, UK.
Karen L StalsExeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Matthew WakelingInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX2 5DW, UK.
Angela BarnicoatNorth East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London WC1N 3JH, UK.
Clare BeesleyRare & Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, 37 Queen Square, London WC1N 3BH, UK.
DDD Study
Andrea K Hanson-KahnDepartment of Genetics, Stanford University School of Medicine, 300 Pasteur Drive, H315, Stanford, CA 94305-5208, USA.
Mary KukolichClinical Genetics, Cook Children's Medical Center, Fort Worth, TX 76104, USA.
David A StevensonDepartment of Pediatrics, Division of Medical Genetics, Stanford University, 300 Pasteur Drive, H315, Stanford, CA 94305-5208, USA.
Philippe M CampeauDepartment of Pediatrics, CHU Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, QC H3T 1C4, Canada.
Sian EllardExeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Sarah H ElseaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Xiang-Jiao YangRosalind and Morris Goodman Cancer Research Centre, McGill University, Montreal, Quebec, QC H3A 1A3, Canada.
Richard C CaswellExeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.

Funding

Wellcome Trust
6 · The paper itself

Abstract

Histone deacetylases play crucial roles in the regulation of chromatin structure and gene expression in the eukaryotic cell, and disruption of their activity causes a wide range of developmental disorders in humans. Loss-of-function alleles of

Indexed as

14-3-3 bindinggain-of-functionHistone deacetylase 4intellectual disability

Identifiers

PMID33537682
PMCPMC7841527

What OpenQuestion 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 OpenQuestion graph.