{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,5]],"date-time":"2026-04-05T08:24:01Z","timestamp":1775377441825,"version":"3.50.1"},"reference-count":42,"publisher":"Oxford University Press (OUP)","issue":"23","license":[{"start":{"date-parts":[[2021,7,6]],"date-time":"2021-07-06T00:00:00Z","timestamp":1625529600000},"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\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["PA 2030\/2\u20131"],"award-info":[{"award-number":["PA 2030\/2\u20131"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,11,16]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>CHARGE syndrome is an autosomal dominant malformation disorder caused by pathogenic variants in the chromatin remodeler CHD7. Affected are craniofacial structures, cranial nerves and multiple organ systems. Depending on the combination of malformations present, its distinction from other congenital disorders can be challenging.<\/jats:p>\n               <jats:p>To gain a better insight into the regulatory disturbances in CHARGE syndrome, we performed RNA-Seq analysis on blood samples of 19 children with CHARGE syndrome and a confirmed disease-causing CHD7 variant in comparison with healthy control children. Our analysis revealed a distinct CHARGE syndrome pattern with downregulation of genes that are linked to disorders described to mimic the CHARGE phenotype, i.e. KMT2D and KDM6A (Kabuki syndrome), EP300 and CREBBP (Rubinstein-Taybi syndrome) and ARID1A and ARID1B (Coffin-Siris syndrome).<\/jats:p>\n               <jats:p>Furthermore, by performing protein\u2013protein interaction studies using co-immunoprecipitation, direct yeast-two hybrid and in situ proximity ligation assays, we could demonstrate an interplay between CHD7, KMT2D, KDM6A and EP300.<\/jats:p>\n               <jats:p>In summary, our data demonstrate a mechanistic and regulatory link between the developmental disorders CHARGE-, Kabuki- and Rubinstein Taybi-syndrome providing an explanation for the overlapping phenotypes.<\/jats:p>","DOI":"10.1093\/hmg\/ddab183","type":"journal-article","created":{"date-parts":[[2021,7,2]],"date-time":"2021-07-02T19:17:55Z","timestamp":1625253475000},"page":"2215-2224","source":"Crossref","is-referenced-by-count":7,"title":["CHARGE syndrome and related disorders: a mechanistic link"],"prefix":"10.1093","volume":"30","author":[{"given":"Roser","family":"Ufartes","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, University Medical Center G\u00f6ttingen, G\u00f6ttingen 37073, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Regina","family":"Gr\u00fcn","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center G\u00f6ttingen, G\u00f6ttingen 37073, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriela","family":"Salinas","sequence":"additional","affiliation":[{"name":"NGS Integrative Genomics Core Unit, University Medical Center G\u00f6ttingen, G\u00f6ttingen 37073, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maren","family":"Sitte","sequence":"additional","affiliation":[{"name":"NGS Integrative Genomics Core Unit, University Medical Center G\u00f6ttingen, G\u00f6ttingen 37073, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fritz","family":"Kahl","sequence":"additional","affiliation":[{"name":"Department of General-, Visceral- and Pediatric Surgery, University Medical Center G\u00f6ttingen, UMG, G\u00f6ttingen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monica T Y","family":"Wong","sequence":"additional","affiliation":[{"name":"University of Groningen, University Medical Center Groningen, Department of Genetics, RB, Groningen 9700, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Conny M A","family":"van Ravenswaaij-Arts","sequence":"additional","affiliation":[{"name":"University of Groningen, University Medical Center Groningen, Department of Genetics, RB, Groningen 9700, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silke","family":"Pauli","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center G\u00f6ttingen, G\u00f6ttingen 37073, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2021,7,6]]},"reference":[{"key":"2021120111142920500_ref1","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/S0022-3476(81)80454-4","article-title":"Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association","volume":"99","author":"Pagon","year":"1981","journal-title":"J. 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