{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T08:15:28Z","timestamp":1769588128787,"version":"3.49.0"},"reference-count":48,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,9,24]],"date-time":"2018-09-24T00:00:00Z","timestamp":1537747200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002261","name":"Russian Foundation for Basic Research","doi-asserted-by":"publisher","award":["18\u2010315\u201000258 mol_a"],"award-info":[{"award-number":["18\u2010315\u201000258 mol_a"]}],"id":[{"id":"10.13039\/501100002261","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Methylation profiles of CpG islands within the <jats:italic>SLC23A2<\/jats:italic>, <jats:italic>CDK2AP1<\/jats:italic>, and <jats:italic>DYNC1H1<\/jats:italic> genes and their association with spinal muscular atrophy (SMA) severity were studied. High clinical heterogeneity of SMA suggests the existence of different factors modifying SMA phenotype with gene methylation as a plausible one. The genes picked up in our earlier genome\u2010wide methylation studies of SMA patients demonstrated obvious differences in their methylation patterns, thus suggesting the likely involvement of their protein products in SMA development. Significantly decreased methylation of CpG islands within exon 37 of the <jats:italic>DYNC1H1<\/jats:italic> gene was observed in patients with a severe SMA manifestation (type I) compared to mildly affected SMA patients (types III\u2013IV). This finding provides new information on peculiarities of methylation in clinically different types of SMA patients and gives a clue for identification of new SMA modifiers.<\/jats:p>","DOI":"10.1111\/ahg.12288","type":"journal-article","created":{"date-parts":[[2018,9,24]],"date-time":"2018-09-24T10:59:20Z","timestamp":1537786760000},"page":"73-81","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["<i>DYNC1H1<\/i> gene methylation correlates with severity of spinal muscular atrophy"],"prefix":"10.1111","volume":"83","author":[{"given":"Marianna","family":"Maretina","sequence":"first","affiliation":[{"name":"Laboratory of Prenatal Diagnostics of Inherited Diseases, D.O. 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