{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T04:15:20Z","timestamp":1791519320169,"version":"4.3.4"},"reference-count":85,"publisher":"Oxford University Press (OUP)","issue":"R1","license":[{"start":{"date-parts":[[2020,6,27]],"date-time":"2020-06-27T00:00:00Z","timestamp":1593216000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,9,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Temple syndrome (TS) and Kagami-Ogata syndrome (KOS) are imprinting disorders caused by absence or overexpression of genes within a single imprinted cluster on human chromosome 14q32. TS most frequently arises from maternal UPD14 or epimutations\/deletions on the paternal chromosome, whereas KOS most frequently arises from paternal UPD14 or epimutations\/deletions on the maternal chromosome. In this review, we describe the clinical symptoms and genetic\/epigenetic features of this imprinted region. The locus encompasses paternally expressed protein-coding genes (DLK1, RTL1 and DIO3) and maternally expressed lncRNAs (MEG3\/GTL2, RTL1as and MEG8), as well as numerous miRNAs and snoRNAs. Control of expression is complex, with three differentially methylated regions regulating germline, placental and tissue-specific transcription. The strong conserved synteny between mouse chromosome 12aF1 and human chromosome 14q32 has enabled the use of mouse models to elucidate imprinting mechanisms and decipher the contribution of genes to the symptoms of TS and KOS. In this review, we describe relevant mouse models and highlight their value to better inform treatment options for long-term management of TS and KOS patients.<\/jats:p>","DOI":"10.1093\/hmg\/ddaa133","type":"journal-article","created":{"date-parts":[[2020,6,24]],"date-time":"2020-06-24T15:15:23Z","timestamp":1593011723000},"page":"R107-R116","source":"Crossref","is-referenced-by-count":58,"title":["Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms"],"prefix":"10.1093","volume":"29","author":[{"given":"Rexxi","family":"Prasasya","sequence":"first","affiliation":[{"name":"Epigenetics Institute, Department of Cell and Developmental Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristen V","family":"Grotheer","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences, Hackensack Meridian School of Medicine at Seton Hall University, 340 Kingsland Street, Building 123, Nutley, NJ 07110, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda D","family":"Siracusa","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences, Hackensack Meridian School of Medicine at Seton Hall University, 340 Kingsland Street, Building 123, Nutley, NJ 07110, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marisa S","family":"Bartolomei","sequence":"additional","affiliation":[{"name":"Epigenetics Institute, Department of Cell and Developmental Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,6,27]]},"reference":[{"key":"2021073107401361200_ref1","doi-asserted-by":"crossref","first-page":"a018382","DOI":"10.1101\/cshperspect.a018382","article-title":"Genomic imprinting in mammals","volume":"6","author":"Barlow","year":"2014","journal-title":"Cold Spring Harb. 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