Evidence map›Paper›PMID 40519748›Full record

ArticleGenetics in medicine open2025

Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans.

Akiko Soneda Hashimoto, Jianshi Yu, Christina Williams, Karin Gaudenz, Parisa Varshosaz, Ruonan Zhao, Nageswara Pilli, Tian Liu, Jonathon Russell, Rebecca S Tooze and 20 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine open, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. 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

30 authors.

Akiko Soneda HashimotoClinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.
Jianshi YuDepartment of Pharmaceutical Sciences, University of Maryland School of Pharmacy, Baltimore, MD.
Christina WilliamsDepartment of Pharmaceutical Sciences, University of Maryland School of Pharmacy, Baltimore, MD.
Karin GaudenzStowers Institute for Medical Research, Kansas City, MO.
Parisa VarshosazMedical Sciences Division, Northern Ontario School of Medicine University, Sudbury, ON, Canada.
Ruonan ZhaoStowers Institute for Medical Research, Kansas City, MO.
Nageswara PilliDepartment of Pharmaceutical Sciences, University of Maryland School of Pharmacy, Baltimore, MD.
Tian LiuDepartment of Pharmaceutical Sciences, University of Maryland School of Pharmacy, Baltimore, MD.
Jonathon RussellStowers Institute for Medical Research, Kansas City, MO.
Rebecca S ToozeClinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.
Stephen R F TwiggClinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.
Siddharth BankaDivision of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.
Elizabeth SweeneyDepartment of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, United Kingdom.
Simon J McGowanCentre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.
Samantha J L KnightOxford NIHR Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.
Jenny C TaylorOxford NIHR Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.
Tawfiq Jamal FroukhDepartment of Biotechnology and Genetic Engineering, Philadelphia University, Amman, Jordan.
M Irene Valenzuela PalafollDepartment of Clinical and Molecular Genetics, Vall d´Hebron University Hospital, Barcelona, Spain.
Núria Martínez-GilDepartment of Clinical and Molecular Genetics, Vall d´Hebron University Hospital, Barcelona, Spain.
Mar Costa-RogerDepartment of Clinical and Molecular Genetics, Vall d´Hebron University Hospital, Barcelona, Spain.
Maria Teresa Villarreal-MolinaLaboratorio de Genómica Cardiovascular, Instituto Nacional de Medicina Genómica, Mexico City, Mexico.
Esther Lieberman HernandezDepartamento de Genética Humana, Instituto Nacional de Pediatría, Mexico City, Mexico.
Rami Abou JamraInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Felix GattermannInstitute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Margarete Koch-HogrebeVestische Kinder und Jugendklinik Datteln, Universität Witten-Herdecke, Datteln, Germany.
Dagmar WieczorekInstitute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Paul A TrainorStowers Institute for Medical Research, Kansas City, MO.
Alexander R MoiseMedical Sciences Division, Northern Ontario School of Medicine University, Sudbury, ON, Canada.
Andrew O M WilkieClinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.
Maureen A KaneDepartment of Pharmaceutical Sciences, University of Maryland School of Pharmacy, Baltimore, MD.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Signaling by the morphogen all-trans retinoic acid (RA) is critical for embryonic development, during which its tissue concentration must be tightly regulated. We investigated 8 sibships (12 individuals) segregating 5 different homozygous variants of dehydrogenase/reductase 3 Methods: We assessed variant pathogenicity using comparative phenotypic and bioinformatic analysis, quantification of Results: Five homozygotes from 3 families (1 family segregating a deletion of the promoter and 5'-untranslated region of Conclusion: We define a novel developmental syndrome associated with biallelic hypomorphic variants in

Indexed as

5′-untranslated regionCraniosynostosisNoncoding variantRetinoic acidVitamin A

Identifiers

PMID40519748
PMCPMC12167057

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.