Evidence map›Paper›PMID 31950080›Full record

ArticleScience advances2020

PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly.

Slim Mzoughi, Federico Di Tullio, Diana H P Low, Corina-Mihaela Motofeanu, Sheena L M Ong, Heike Wollmann, Cheng Mun Wun, Paul Kruszka, Maximilian Muenke, Friedhelm Hildebrandt and 3 more

Open access · goldAbstract read
In one paragraph

Article in Science advances, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
1.2field-weighted citation impact, top 23% 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

18 citing papers in PubMed, 20 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Review
  8. Article
  9. Prdm15 acts upstream of Wnt4 signaling in anterior neural development ofFrontiers in cell and developmental biology · 2024
    Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Review
  15. Mutations inJournal of the American Society of Nephrology : JASN · 2021
    Article
  16. Article
  17. Review
  18. 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 2 countries.

Slim MzoughiInstitute of Molecular and Cell Biology, Agency for Science, Technology and Research (ASTAR), Singapore.ORCID 0000-0002-5158-0389
Federico Di TullioInstitute of Molecular and Cell Biology, Agency for Science, Technology and Research (ASTAR), Singapore.ORCID 0000-0001-9756-976X
Diana H P LowInstitute of Molecular and Cell Biology, Agency for Science, Technology and Research (ASTAR), Singapore.ORCID 0000-0002-6054-8524
Corina-Mihaela MotofeanuInstitute of Molecular and Cell Biology, Agency for Science, Technology and Research (ASTAR), Singapore.
Sheena L M OngInstitute of Medical Biology, Agency for Science, Technology and Research (ASTAR), Singapore.ORCID 0000-0002-7569-7944
Heike WollmannInstitute of Molecular and Cell Biology, Agency for Science, Technology and Research (ASTAR), Singapore.
Cheng Mun WunInstitute of Molecular and Cell Biology, Agency for Science, Technology and Research (ASTAR), Singapore.
Paul KruszkaMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Maximilian MuenkeMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0002-7719-6545
Friedhelm HildebrandtDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
N Ray DunnInstitute of Medical Biology, Agency for Science, Technology and Research (ASTAR), Singapore.ORCID 0000-0002-6259-2975
Daniel M MesserschmidtInstitute of Molecular and Cell Biology, Agency for Science, Technology and Research (ASTAR), Singapore.
Ernesto GuccioneInstitute of Molecular and Cell Biology, Agency for Science, Technology and Research (ASTAR), Singapore.ORCID 0000-0001-7764-5307
Agency for Science, Technology and Research · SGNational Institutes of Health · USBoston Children's Hospital · US

Funding

Identification and function of new genes causing childhood nephrotic syndromeR01DK076683 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2007 to 2021
$5.3M
NIDDK NIH HHS R01 DK076683
6 · The paper itself

Abstract

Holoprosencephaly (HPE) is a congenital forebrain defect often associated with embryonic lethality and lifelong disabilities. Currently, therapeutic and diagnostic options are limited by lack of knowledge of potential disease-causing mutations. We have identified a new mutation in the

Indexed as

Cell PolarityWnt Signaling PathwayAnimalsBody PatterningBrainCohort StudiesDNA-Binding ProteinsEmbryo, MammalianFemaleGene DeletionGene Expression Regulation, DevelopmentalHoloprosencephalyHumansLoss of Function MutationMiceNeural PlateDNA-Binding ProteinsPRDM15 protein, humanPRDM15 protein, mouseReceptors, NotchTranscription Factors

Identifiers

PMID31950080
PMCPMC6954057
OpenAlexW2999149964

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.