{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Hashimoto AS"],"funding":["National Institute for Health Research (NIHR)"],"pagination":["103427"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12167057"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["3"],"pubmed_abstract":["<h4>Purpose</h4>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 <b>(</b> <i>DHRS3</i>), which encodes an embryonically expressed enzyme (short-chain dehydrogenase/reductase 3; also termed SDR16C1) that catalyzes the reduction of retinaldehyde to retinol, limiting excessive RA synthesis.<h4>Methods</h4>We assessed variant pathogenicity using comparative phenotypic and bioinformatic analysis, quantification of <i>DHRS3</i> expression, and measurement of plasma retinoid metabolites.<h4>Results</h4>Five homozygotes from 3 families (1 family segregating a deletion of th"],"journal":["Genetics in medicine open"],"pubmed_title":["Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans."],"pmcid":["PMC12167057"],"funding_grant_id":["NIHR203308"],"pubmed_authors":["Wilkie AOM","Taylor JC","Palafoll MIV","Moise AR","Koch-Hogrebe M","Martinez-Gil N","Yu J","Liu T","Froukh TJ","Williams C","Costa-Roger M","Kane MA","Wieczorek D","Varshosaz P","Zhao R","Banka S","Pilli N","Gaudenz K","Lieberman Hernandez E","Twigg SRF","Tooze RS","Abou Jamra R","Sweeney E","Russell J","Hashimoto AS","Knight SJL","Villarreal-Molina MT","McGowan SJ","Trainor PA","Gattermann F"],"additional_accession":[]},"is_claimable":false,"name":"Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans.","description":"<h4>Purpose</h4>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 <b>(</b> <i>DHRS3</i>), which encodes an embryonically expressed enzyme (short-chain dehydrogenase/reductase 3; also termed SDR16C1) that catalyzes the reduction of retinaldehyde to retinol, limiting excessive RA synthesis.<h4>Methods</h4>We assessed variant pathogenicity using comparative phenotypic and bioinformatic analysis, quantification of <i>DHRS3</i> expression, and measurement of plasma retinoid metabolites.<h4>Results</h4>Five homozygotes from 3 families (1 family segregating a deletion of th","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025","modification":"2026-05-26T20:07:38.254Z","creation":"2026-05-26T03:07:07.631Z"},"accession":"S-EPMC12167057","cross_references":{"pubmed":["40519748"],"doi":["10.1016/j.gimo.2025.103427"]}}