Evidence map›Paper›PMID 36070393›Full record

ArticleScience advances2022

Mutations in

Maéva Langouët, Christine Jolicoeur, Awais Javed, Pierre Mattar, Micah D Gearhart, Stephen P Daiger, Mette Bertelsen, Lisbeth Tranebjærg, Nanna D Rendtorff, Karen Grønskov and 10 more

Open access · goldAbstract read
In one paragraph

Article in Science advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
0.9field-weighted citation impact, top 29% 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

11 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. Pathogenic variants inGenome research · 2024
    Article
  9. Article
  10. Article
  11. 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

20 authors at 10 institutions in 4 countries.

Maéva LangouëtCellular Neurobiology Research Unit, Institut de Recherches Cliniques de Montréal (IRCM), Montréal, QC H2W 1R7, Canada.ORCID 0000-0001-7176-0427
Christine JolicoeurCellular Neurobiology Research Unit, Institut de Recherches Cliniques de Montréal (IRCM), Montréal, QC H2W 1R7, Canada.ORCID 0000-0002-9683-9817
Awais JavedCellular Neurobiology Research Unit, Institut de Recherches Cliniques de Montréal (IRCM), Montréal, QC H2W 1R7, Canada.ORCID 0000-0002-2686-8006
Pierre MattarCellular Neurobiology Research Unit, Institut de Recherches Cliniques de Montréal (IRCM), Montréal, QC H2W 1R7, Canada.ORCID 0000-0002-5708-6218
Micah D GearhartDepartment of Genetics, Cell Biology and Development, Development Biology Center, Masonic Cancer Center, University of Minnesota, Minneapolis, MN 55455, USA.ORCID 0000-0002-9873-1930
Stephen P DaigerEHGED Department, Human Genetics Center, School of Public Health, University of Texas HSC, Houston, TX 77030, USA.ORCID 0000-0002-3748-1827
Mette BertelsenDepartment of Clinical Genetics, Rigshospitalet, The Kennedy Centre, Copenhagen, Denmark.
Lisbeth TranebjærgDepartment of Clinical Genetics, Rigshospitalet, The Kennedy Centre, Copenhagen, Denmark.
Nanna D RendtorffDepartment of Clinical Genetics, Rigshospitalet, The Kennedy Centre, Copenhagen, Denmark.
Karen GrønskovDepartment of Clinical Genetics, Rigshospitalet, The Kennedy Centre, Copenhagen, Denmark.
Catherine JespersgaardDepartment of Clinical Genetics, Rigshospitalet, The Kennedy Centre, Copenhagen, Denmark.ORCID 0000-0003-0015-1426
Rui ChenDepartment of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
Zixi SunDepartment of Ophthalmology, State Key Laboratory of Complex Severe and Rare diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing 100730, China.ORCID 0000-0002-8238-2115
Hui LiDepartment of Ophthalmology, State Key Laboratory of Complex Severe and Rare diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing 100730, China.ORCID 0000-0002-0339-0038
Najmeh AlirezaieDepartment of Human Genetics, McGill University, Montreal, QC, Canada.ORCID 0000-0002-7521-2695
Jacek MajewskiDepartment of Human Genetics, McGill University, Montreal, QC, Canada.ORCID 0000-0003-3572-9558
Vivian J BardwellDepartment of Genetics, Cell Biology and Development, Development Biology Center, Masonic Cancer Center, University of Minnesota, Minneapolis, MN 55455, USA.ORCID 0000-0002-1459-8897
Ruifang SuiDepartment of Ophthalmology, State Key Laboratory of Complex Severe and Rare diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing 100730, China.ORCID 0000-0002-6659-0926
Robert K KoenekoopDepartments of Pediatric Surgery, Human Genetics, Adult Ophthalmology and the McGill Ocular Genetics Laboratory, McGill University Health Center Research Institute, Montreal, QC, Canada.ORCID 0000-0001-6697-0411
Michel CayouetteCellular Neurobiology Research Unit, Institut de Recherches Cliniques de Montréal (IRCM), Montréal, QC H2W 1R7, Canada.ORCID 0000-0003-4655-9048
Montreal Clinical Research Institute · CAChinese Academy of Medical Sciences & Peking Union Medical College · CNRigshospitalet · DKCancer Genetics (United States) · USMcGill University · CABaylor College of Medicine · USGlostrup Hospital · DKMcGill University Health Centre · CAThe University of Texas Health Science Center at Houston · USUniversity of Copenhagen · DK

Funding

GENETICS OF EARLY ONSET RETINAL DISEASESR01EY018571 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI RUI CHEN · 2008 to 2026
$7.2M
Molecular Basis of Human Visual System DisordersR01EY022356 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI RUI CHEN · 2012 to 2026
$6.1M
DNA LINKAGE STUDIES OF DEGENERATIVE RETINAL DISEASESR01EY007142 · NEI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI DAIGER, STEPHEN P · 1989 to 2017
$4.1M
Control of Trophoblast Differentiation in Placental DevelopmentR01HD084459 · NICHD · UNIVERSITY OF MINNESOTA · PI BARDWELL, VIVIAN J · 2016 to 2020
$1.7M
NEI NIH HHS R01 EY007142NEI NIH HHS R01 EY018571NEI NIH HHS R01 EY022356NICHD NIH HHS R01 HD084459
6 · The paper itself

Abstract

Many transcription factors regulating the production, survival, and function of photoreceptor cells have been identified, but little is known about transcriptional co-regulators in retinal health and disease. Here, we show that BCL6 co-repressor (BCOR), a Polycomb repressive complex 1 factor mutated in various cancers, is involved in photoreceptor degenerative diseases. Using proteomics and transcription assays, we report that BCOR interacts with the transcription factors CRX and OTX2 and reduces their ability to activate the promoters of photoreceptor-specific genes. CUT&RUN sequencing further shows that BCOR shares genome-wide binding profiles with CRX/OTX2, consistent with a general co-repression activity. We also identify missense mutations in human

Identifiers

PMID36070393
PMCPMC9451151
OpenAlexW4294897896

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.