{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T15:46:52Z","timestamp":1793029612774,"version":"4.5.0"},"reference-count":83,"publisher":"American Society for Clinical Investigation","issue":"20","license":[{"start":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T00:00:00Z","timestamp":1761091200000},"content-version":"vor","delay-in-days":36,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100011103","name":"Rann\u00eds","doi-asserted-by":"crossref","award":["217988-051"],"award-info":[{"award-number":["217988-051"]}],"id":[{"id":"10.13039\/501100011103","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["U540D030157"],"award-info":[{"award-number":["U540D030157"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100011103","name":"Rann\u00eds","doi-asserted-by":"crossref","award":["2410204-051"],"award-info":[{"award-number":["2410204-051"]}],"id":[{"id":"10.13039\/501100011103","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,10,22]]},"abstract":"<jats:p>\n                    Wiedemann-Steiner syndrome (WDSTS) is a rare genetic cause of intellectual disability that is primarily caused by heterozygous loss-of-function variants in the gene encoding the histone lysine methyltransferase 2A (KMT2A). Prior studies have shown successful postnatal amelioration of disease phenotypes for Rett, Rubinstein-Taybi, and Kabuki syndromes, which are related Mendelian disorders of the epigenetic machinery. To explore whether the neurological phenotype in WDSTS is treatable in utero, we created a mouse model carrying a loss-of-function variant placed between 2 loxP sites.\n                    <jats:italic>\n                      Kmt2a\n                      <jats:sup>+\/LSL<\/jats:sup>\n                    <\/jats:italic>\n                    mice demonstrated core features of WDSTS including growth retardation, craniofacial abnormalities, and hypertrichosis as well as hippocampal memory defects. The neurological phenotypes were rescued upon restoration of\n                    <jats:italic>KMT2A<\/jats:italic>\n                    in utero following breeding to a nestin-Cre. Together, our data provide a mouse model to explore the potential therapeutic window in WDSTS. Our work suggests that WDSTS has a window of opportunity extending at least until the midpoint of in utero development, making WDSTS an ideal candidate for future therapeutic strategies.\n                  <\/jats:p>","DOI":"10.1172\/jci.insight.187039","type":"journal-article","created":{"date-parts":[[2025,9,16]],"date-time":"2025-09-16T16:00:27Z","timestamp":1758038427000},"source":"Crossref","is-referenced-by-count":3,"title":["In utero rescue of neurological dysfunction in a mouse model of Wiedemann-Steiner syndrome"],"prefix":"10.1172","volume":"10","author":[{"given":"Tinna","family":"Reynisdottir","sequence":"first","affiliation":[{"name":"Louma G. Laboratory of Epigenetic Research, Faculty of Medicine, University of Iceland, Reykjavik, Iceland."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberley J.","family":"Anderson","sequence":"additional","affiliation":[{"name":"Louma G. 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