{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T11:36:52Z","timestamp":1769600212544,"version":"3.49.0"},"reference-count":45,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2017,2,1]],"date-time":"2017-02-01T00:00:00Z","timestamp":1485907200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,2,1]],"date-time":"2017-02-01T00:00:00Z","timestamp":1485907200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100007642","name":"University of Rome Tor Vergata","doi-asserted-by":"publisher","award":["5-MDESM-PLAT"],"award-info":[{"award-number":["5-MDESM-PLAT"]}],"id":[{"id":"10.13039\/501100007642","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2017,2]]},"DOI":"10.1016\/j.nmd.2016.11.004","type":"journal-article","created":{"date-parts":[[2016,11,16]],"date-time":"2016-11-16T20:04:28Z","timestamp":1479326668000},"page":"163-169","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":19,"title":["Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis"],"prefix":"10.1016","volume":"27","author":[{"given":"Elena","family":"Campione","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annalisa","family":"Botta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monia","family":"Di Prete","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emanuele","family":"Rastelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuela","family":"Gibellini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Petrucci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergio","family":"Bernardini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Novelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luca","family":"Bianchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Augusto","family":"Orlandi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Massa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Terracciano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2016.11.004_bib0010","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1159\/000444018","article-title":"An age-standardized prevalence estimate and a sex and age distribution of myotonic dystrophy types 1 and 2 in the Rome Province, Italy","volume":"46","author":"Vanacore","year":"2016","journal-title":"Neuroepidemiology"},{"key":"10.1016\/j.nmd.2016.11.004_bib0015","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/0092-8674(92)90154-5","article-title":"Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3\u2032 end of a transcript encoding a protein kinase family member","volume":"68","author":"Brook","year":"1992","journal-title":"Cell"},{"issue":"5531","key":"10.1016\/j.nmd.2016.11.004_bib0020","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1126\/science.1062125","article-title":"Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9","volume":"293","author":"Liquori","year":"2001","journal-title":"Science"},{"key":"10.1016\/j.nmd.2016.11.004_bib0025","series-title":"Myotonic dystrophy","author":"Harper","year":"2001"},{"key":"10.1016\/j.nmd.2016.11.004_bib0030","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1111\/j.1365-2990.2010.01068.x","article-title":"The myotonic dystrophy type 2 (DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles","volume":"36","author":"Massa","year":"2010","journal-title":"Neuropathol Appl Neurobiol"},{"key":"10.1016\/j.nmd.2016.11.004_bib0035","doi-asserted-by":"crossref","first-page":"1854","DOI":"10.1212\/01.WNL.0000065898.61358.09","article-title":"Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM\/DM2","volume":"60","author":"Vihola","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2016.11.004_bib0040","doi-asserted-by":"crossref","first-page":"1405","DOI":"10.1002\/mus.21122","article-title":"Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2","volume":"38","author":"Pisani","year":"2008","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nmd.2016.11.004_bib0045","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1054\/bjps.1998.3036","article-title":"Multiple pilomatrixomata and myotonic dystrophy: a familial association","volume":"52","author":"Geh","year":"1999","journal-title":"Br J Plast Surg"},{"key":"10.1016\/j.nmd.2016.11.004_bib0050","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1111\/j.1365-4632.2004.02583.x","article-title":"Multiple basal cell carcinomas in a patient with myotonic dystrophy type 1","volume":"45","author":"Saponaro","year":"2006","journal-title":"Int J Dermatol"},{"key":"10.1016\/j.nmd.2016.11.004_bib0055","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1111\/j.1600-0625.2007.00570.x","article-title":"Vitamin D and the skin: an ancient friend, revisited","volume":"16","author":"Reichrath","year":"2007","journal-title":"Exp Dermatol"},{"key":"10.1016\/j.nmd.2016.11.004_bib0060","doi-asserted-by":"crossref","first-page":"2330","DOI":"10.1007\/s00415-013-6984-1","article-title":"Vitamin D deficiency in myotonic dystrophy type 1","volume":"260","author":"Terracciano","year":"2013","journal-title":"J Neurol"},{"key":"10.1016\/j.nmd.2016.11.004_bib0065","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1016\/j.jns.2013.06.008","article-title":"Vitamin D, parathyroid hormone and muscle impairment in myotonic dystrophies","volume":"331","author":"Passeri","year":"2013","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.nmd.2016.11.004_bib0070","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/j.mce.2011.05.017","article-title":"Vitamin D metabolism and function in the skin","volume":"347","author":"Bikle","year":"2011","journal-title":"Mol Cell Endocrinol"},{"key":"10.1016\/j.nmd.2016.11.004_bib0075","doi-asserted-by":"crossref","first-page":"2480","DOI":"10.1001\/jama.2011.1796","article-title":"Cancer risk among patients with myotonic muscular dystrophy","volume":"306","author":"Gadalla","year":"2011","journal-title":"JAMA"},{"key":"10.1016\/j.nmd.2016.11.004_bib0080","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1016\/j.mayocp.2011.09.005","article-title":"Increased cancer risks in myotonic dystrophy","volume":"87","author":"Win","year":"2012","journal-title":"Mayo Clin Proc"},{"key":"10.1016\/j.nmd.2016.11.004_bib0085","doi-asserted-by":"crossref","first-page":"2161","DOI":"10.1007\/s00415-012-6476-8","article-title":"Correlates of tumor development in patients with myotonic dystrophy","volume":"259","author":"Das","year":"2012","journal-title":"J Neurol"},{"key":"10.1016\/j.nmd.2016.11.004_bib0090","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1007\/s00415-015-8006-y","article-title":"Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors","volume":"263","author":"Bianchi","year":"2016","journal-title":"J Neurol"},{"key":"10.1016\/j.nmd.2016.11.004_bib0095","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1007\/s00403-009-0997-8","article-title":"Association between basal, squamous cell carcinomas, dysplastic nevi and myotonic muscular dystrophy indicates an important role of RNA-binding proteins in development of human skin cancer","volume":"302","author":"Zemtsov","year":"2010","journal-title":"Arch Dermatol Res"},{"key":"10.1016\/j.nmd.2016.11.004_bib0100","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.jaad.2014.09.038","article-title":"Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: a cross-sectional study","volume":"72","author":"Zampetti","year":"2015","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.nmd.2016.11.004_bib0105","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1016\/j.nmd.2015.02.013","article-title":"Skin features in myotonic dystrophy type 1: an observational study","volume":"25","author":"Campanati","year":"2015","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2016.11.004_bib0110","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1089\/gte.2006.0511","article-title":"Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients","volume":"11","author":"Salehi","year":"2007","journal-title":"Genet Test"},{"key":"10.1016\/j.nmd.2016.11.004_bib0115","first-page":"23","article-title":"Italian guidelines for molecular analysis in myotonic dystrophies","volume":"25","author":"Botta","year":"2006","journal-title":"Acta Myol"},{"key":"10.1016\/j.nmd.2016.11.004_bib0120","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/j.ejca.2004.10.015","article-title":"Meta-analysis of risk factors for cutaneous melanoma: I. Common and atypical nevi","volume":"41","author":"Gandini","year":"2005","journal-title":"Eur J Cancer"},{"key":"10.1016\/j.nmd.2016.11.004_bib0125","doi-asserted-by":"crossref","first-page":"1246","DOI":"10.1007\/s00415-010-5498-3","article-title":"Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2","volume":"257","author":"Romeo","year":"2010","journal-title":"J Neurol"},{"key":"10.1016\/j.nmd.2016.11.004_bib0130","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1046\/j.1540-8167.2002.00444.x","article-title":"Severity of cardiac conduction involvement and arrhythmias in myotonic dystrophy type 1 correlates with age and CTG repeat length","volume":"13","author":"Groh","year":"2002","journal-title":"J Cardiovasc Electrophysiol"},{"key":"10.1016\/j.nmd.2016.11.004_bib0135","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1007\/s00415-011-6277-5","article-title":"Endocrine function in 97 patients with myotonic dystrophy type 1","volume":"259","author":"\u00d8rngreen","year":"2012","journal-title":"J Neurol"},{"key":"10.1016\/j.nmd.2016.11.004_bib0140","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1136\/jmg.2008.058909","article-title":"The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients","volume":"45","author":"Botta","year":"2008","journal-title":"J Med Genet"},{"issue":"4","key":"10.1016\/j.nmd.2016.11.004_bib0145","doi-asserted-by":"crossref","first-page":"e0125341","DOI":"10.1371\/journal.pone.0125341","article-title":"Elevated muscle-specific miRNAs in serum of myotonic dystrophy patients relate to muscle disease progress","volume":"10","author":"Koutsoulidou","year":"2015","journal-title":"PLoS ONE"},{"key":"10.1016\/j.nmd.2016.11.004_bib0150","doi-asserted-by":"crossref","first-page":"e770","DOI":"10.1038\/cddis.2013.291","article-title":"MBNL142 and MBNL143 gene isoforms, overexpressed in DM1-patient muscle, encode for nuclear proteins interacting with Src family kinases","volume":"4","author":"Botta","year":"2013","journal-title":"Cell Death Dis"},{"key":"10.1016\/j.nmd.2016.11.004_bib0155","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.1016\/j.celrep.2015.07.029","article-title":"MBNL sequestration by toxic RNAs and RNA misprocessing in the myotonic dystrophy brain","volume":"12","author":"Goodwin","year":"2015","journal-title":"Cell Rep"},{"key":"10.1016\/j.nmd.2016.11.004_bib0160","doi-asserted-by":"crossref","first-page":"125","DOI":"10.3389\/fnagi.2015.00125","article-title":"Muscle wasting in myotonic dystrophies: a model of premature aging","volume":"7","author":"Mateos-Aierdi","year":"2015","journal-title":"Front Aging Neurosci"},{"key":"10.1016\/j.nmd.2016.11.004_bib0165","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1080\/10715760500138932","article-title":"Oxidative stress in myotonic dystrophy type 1","volume":"39","author":"Toscano","year":"2005","journal-title":"Free Radic Res"},{"key":"10.1016\/j.nmd.2016.11.004_bib0170","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.1038\/cdd.2010.33","article-title":"Normal myogenesis and increased apoptosis in myotonic dystrophy type-1 muscle cells","volume":"17","author":"Loro","year":"2010","journal-title":"Cell Death Differ"},{"key":"10.1016\/j.nmd.2016.11.004_bib0175","doi-asserted-by":"crossref","first-page":"503","DOI":"10.3109\/10715762.2014.887847","article-title":"Imbalanced oxidant and antioxidant ratio in myotonic dystrophy type 1","volume":"48","author":"Kumar","year":"2014","journal-title":"Free Radic Res"},{"key":"10.1016\/j.nmd.2016.11.004_bib0180","doi-asserted-by":"crossref","first-page":"1435","DOI":"10.2353\/ajpath.2009.080560","article-title":"Large CTG repeats trigger p16-dependent premature senescence in myotonic dystrophy type 1 muscle precursor cells","volume":"174","author":"Bigot","year":"2009","journal-title":"Am J Pathol"},{"key":"10.1016\/j.nmd.2016.11.004_bib0185","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1016\/j.nmd.2014.06.435","article-title":"Progression of muscle histopathology but not of spliceopathy in myotonic dystrophy type 2","volume":"24","author":"Cardani","year":"2014","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2016.11.004_bib0190","first-page":"976","article-title":"The role of nuclear bodies in gene expression and disease","volume":"2","author":"Morimoto","year":"2013","journal-title":"Biology (Basel)"},{"key":"10.1016\/j.nmd.2016.11.004_bib0195","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1152\/physrev.00047.2005","article-title":"Nuclear lamins: laminopathies and their role in premature ageing","volume":"86","author":"Broers","year":"2006","journal-title":"Physiol Rev"},{"key":"10.1016\/j.nmd.2016.11.004_bib0200","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1083\/jcb.200904124","article-title":"Role of A-type lamins in signaling, transcription, and chromatin organization","volume":"187","author":"Andr\u00e9s","year":"2009","journal-title":"J Cell Biol"},{"key":"10.1016\/j.nmd.2016.11.004_bib0205","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jaad.2012.02.047","article-title":"The dysplastic nevus: from historical perspective to management in the modern era: part I. Historical, histologic, and clinical aspects","volume":"67","author":"Duffy","year":"2012","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.nmd.2016.11.004_bib0210","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.jsbmb.2010.03.019","article-title":"The nuclear vitamin D receptor controls the expression of genes encoding factors which feed the \u201cFountain of Youth\u201d to mediate healthful aging","volume":"121","author":"Haussler","year":"2010","journal-title":"J Steroid Biochem Mol Biol"},{"key":"10.1016\/j.nmd.2016.11.004_bib0215","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1002\/jcb.10540","article-title":"1,25-Dihydroxyvitamin D3 inhibits ultraviolet B-induced apoptosis, Jun kinase activation, and interleukin-6 production in primary human keratinocytes","volume":"89","author":"De Haes","year":"2003","journal-title":"J Cell Biochem"},{"key":"10.1016\/j.nmd.2016.11.004_bib0220","doi-asserted-by":"crossref","first-page":"115","DOI":"10.2340\/00015555-0980","article-title":"Factors influencing vitamin D status","volume":"91","author":"Tsiaras","year":"2011","journal-title":"Acta Derm Venereol"},{"key":"10.1016\/j.nmd.2016.11.004_bib0225","doi-asserted-by":"crossref","first-page":"604","DOI":"10.3109\/07357907.2012.721039","article-title":"Molecular aspects of vitamin D anticancer activity","volume":"30","author":"Picotto","year":"2012","journal-title":"Cancer Invest"},{"key":"10.1016\/j.nmd.2016.11.004_bib0230","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/j.jsbmb.2013.11.002","article-title":"Reciprocal role of vitamin D receptor on \u03b2-catenin regulated keratinocyte proliferation and differentiation","volume":"144","author":"Hu","year":"2014","journal-title":"J Steroid Biochem Mol Biol"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896616308562?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896616308562?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:05:23Z","timestamp":1760774723000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896616308562"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2]]},"references-count":45,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,2]]}},"alternative-id":["S0960896616308562"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2016.11.004","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2017,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2016.11.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}