{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T02:38:36Z","timestamp":1791081516661,"version":"4.1.0"},"reference-count":40,"publisher":"Public Library of Science (PLoS)","issue":"3","license":[{"start":{"date-parts":[[2020,3,10]],"date-time":"2020-03-10T00:00:00Z","timestamp":1583798400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0230003","type":"journal-article","created":{"date-parts":[[2020,3,10]],"date-time":"2020-03-10T13:51:35Z","timestamp":1583848295000},"page":"e0230003","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":18,"title":["Mutation analysis of multiple pilomatricomas in a patient with myotonic dystrophy type 1 suggests a DM1-associated hypermutation phenotype"],"prefix":"10.1371","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2704-4754","authenticated-orcid":true,"given":"Albert","family":"R\u00fcbben","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renate Ursula","family":"Wahl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Eggermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edgar","family":"Dahl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadina","family":"Ortiz-Br\u00fcchle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Cacchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2020,3,10]]},"reference":[{"issue":"5049","key":"pone.0230003.ref001","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1126\/science.1546325","article-title":"Myotonic dystrophy mutation: an unstable CTG repeat in the 3\u2019untranslated region of the gene","volume":"255","author":"M Mahadevan","year":"1992","journal-title":"Science"},{"issue":"6360","key":"pone.0230003.ref002","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1038\/355548a0","article-title":"Cloning of the essential myotonic dystrophy region and mapping of the putative defect","volume":"355","author":"C Aslanidis","year":"1992","journal-title":"Nature"},{"issue":"4","key":"pone.0230003.ref003","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' end of a transcript encoding a protein kinase family member.","volume":"68","author":"JD Brook","year":"1992","journal-title":"Cell"},{"issue":"7","key":"pone.0230003.ref004","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1093\/hmg\/1.7.467","article-title":"Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype","volume":"1","author":"P Shelbourne","year":"1992","journal-title":"Hum Mol Genet"},{"issue":"2","key":"pone.0230003.ref005","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1016\/j.gene.2013.03.059","article-title":"Myotonic dystrophy type 1 (DM1): a triplet repeat expansion disorder.","volume":"522","author":"A Kumar","year":"2013","journal-title":"Gene"},{"issue":"3","key":"pone.0230003.ref006","doi-asserted-by":"crossref","first-page":"e001526","DOI":"10.1161\/CIRCGENETICS.116.001526","article-title":"Association between mutation size and cardiac involvement in myotonic dystrophy type 1: An analysis of the DM1-heart registry.","volume":"10","author":"C Chong-Nguyen","year":"2017","journal-title":"Circ Cardiovasc Genet"},{"issue":"2","key":"pone.0230003.ref007","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1093\/hmg\/11.2.191","article-title":"Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins.","volume":"11","author":"WJ van den Broek","year":"2002","journal-title":"Hum Mol Genet"},{"issue":"16","key":"pone.0230003.ref008","doi-asserted-by":"crossref","first-page":"10473","DOI":"10.1093\/nar\/gku658","article-title":"Processing of double-R-loops in (CAG)\u00b7(CTG) and C9orf72 (GGGGCC)\u00b7(GGCCCC) repeats causes instability.","volume":"42","author":"K Reddy","year":"2014","journal-title":"Nucleic Acids Res"},{"issue":"7","key":"pone.0230003.ref009","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1038\/cr.2016.66","article-title":"MutS\u03b2 promotes trinucleotide repeat expansion by recruiting DNA polymerase \u03b2 to nascent (CAG)n or (CTG)n hairpins for error-prone DNA synthesis.","volume":"26","author":"J Guo","year":"2016","journal-title":"Cell Res"},{"issue":"1","key":"pone.0230003.ref010","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1093\/hmg\/8.1.53","article-title":"Cardiac elav-type RNA-binding protein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophy.","volume":"8","author":"X Lu","year":"1999","journal-title":"Hum Mol Genet"},{"issue":"1","key":"pone.0230003.ref011","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1038\/ng704","article-title":"Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy","volume":"29","author":"RS Savkur","year":"2001","journal-title":"Nat Genet"},{"issue":"19","key":"pone.0230003.ref012","doi-asserted-by":"crossref","first-page":"2143","DOI":"10.1093\/hmg\/10.19.2143","article-title":"Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1","volume":"10","author":"N Sergeant","year":"2001","journal-title":"Hum Mol Genet"},{"issue":"5","key":"pone.0230003.ref013","first-page":"387","article-title":"Myotonia atrophica and multiple calcifying epithelioma of Malherbe.","volume":"45","author":"AR Cantwell","year":"1965","journal-title":"Acta Derm Venerol"},{"issue":"7","key":"pone.0230003.ref014","doi-asserted-by":"crossref","first-page":"22","DOI":"10.5070\/D361D9V7JM","article-title":"Multiple pilomatricomas: cutaneous marker for myotonic dystrophy.","volume":"14","author":"QJ Sherrod","year":"2008","journal-title":"Dermatol Online J"},{"issue":"10","key":"pone.0230003.ref015","doi-asserted-by":"crossref","first-page":"2009","DOI":"10.1007\/s10552-009-9395-y","article-title":"Hypothesis: neoplasms in myotonic dystrophy","volume":"20","author":"CM Mueller","year":"2009","journal-title":"Cancer Causes Control"},{"issue":"12","key":"pone.0230003.ref016","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1001\/archotol.129.12.1327","article-title":"Pilomatricoma of the head and neck: a retrospective review of 179 cases","volume":"129","author":"MY Lan","year":"2003","journal-title":"Arch Otolaryngol Head Neck Surg"},{"issue":"7","key":"pone.0230003.ref017","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1016\/j.ad.2014.01.003","article-title":"Retrospective study of pilomatricoma: 261 tumors in 239 patients.","volume":"105","author":"A Hern\u00e1ndez-N\u00fa\u00f1ez","year":"2014","journal-title":"Actas Dermosifiliogr"},{"issue":"4","key":"pone.0230003.ref018","doi-asserted-by":"crossref","first-page":"e552","DOI":"10.4317\/medoral.16.e552","article-title":"Pilomatrixoma. Review of 205 cases.","volume":"16","author":"R Guinot-Moya","year":"2011","journal-title":"Med Oral Patol Oral Cir Bucal"},{"issue":"5","key":"pone.0230003.ref019","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1111\/ene.13276","article-title":"Pigmentation phenotype, photosensitivity and skin neoplasms in patients with myotonic dystrophy","volume":"24","author":"SM Gadalla","year":"2017","journal-title":"Eur J Neurol"},{"issue":"3","key":"pone.0230003.ref020","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":"ML Bianchi","year":"2016","journal-title":"J Neurol"},{"issue":"6","key":"pone.0230003.ref021","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1159\/000456074","article-title":"Cutaneous neoplasms in myotonic dystrophy type 1.","volume":"232","author":"J Marcoval","year":"2016","journal-title":"Dermatology"},{"issue":"8","key":"pone.0230003.ref022","doi-asserted-by":"crossref","first-page":"1510","DOI":"10.1002\/acn3.50856","article-title":"Benign tumors in myotonic dystrophy type I target disease-related cancer sites","volume":"6","author":"R Alsaggaf","year":"2019","journal-title":"Ann Clin Transl Neurol"},{"issue":"7","key":"pone.0230003.ref023","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1002\/gcc.22061","article-title":"Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency","volume":"52","author":"M Chmara","year":"2013","journal-title":"Genes Chromosomes Cancer"},{"issue":"3","key":"pone.0230003.ref024","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1111\/j.0303-6987.2004.00170.x","article-title":"Multiple familial pilomatricomas: an unusual case.","volume":"31","author":"VG Hubbard","year":"2004","journal-title":"J Cutan Pathol"},{"issue":"4","key":"pone.0230003.ref025","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1038\/7747","article-title":"A common human skin tumour is caused by activating mutations in beta-catenin","volume":"21","author":"EF Chan","year":"1999","journal-title":"Nat Genet"},{"issue":"6","key":"pone.0230003.ref026","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1080\/000155502762064557","article-title":"Low frequency of beta-catenin gene mutations in pilomatricoma","volume":"82","author":"SJ Ha","year":"2002","journal-title":"Acta Derm Venereol"},{"issue":"1","key":"pone.0230003.ref027","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/j.jdermsci.2005.09.005","article-title":"beta-Catenin mutation and its nuclear localization are confirmed to be frequent causes of Wnt signaling pathway activation in pilomatricomas","volume":"41","author":"J Xia","year":"2006","journal-title":"J Dermatol Sci"},{"issue":"4","key":"pone.0230003.ref028","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1046\/j.1365-2133.2001.04455.x","article-title":"beta-catenin expression in pilomatrixomas. Relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles","volume":"145","author":"G Moreno-Bueno","year":"2001","journal-title":"Br J Dermatol"},{"issue":"2","key":"pone.0230003.ref029","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1111\/j.0303-6987.2005.00267.x","article-title":"Pilomatrix carcinomas contain mutations in CTNNB1, the gene encoding beta-catenin","volume":"32","author":"AJ Lazar","year":"2005","journal-title":"J Cutan Pathol"},{"issue":"4","key":"pone.0230003.ref030","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1111\/j.1600-0560.2011.01836.x","article-title":"Familial multiple pilomatrixomas as a presentation of attenuated adenomatosis polyposis coli.","volume":"39","author":"J Trufant","year":"2012","journal-title":"J Cutan Pathol"},{"issue":"12","key":"pone.0230003.ref031","doi-asserted-by":"crossref","first-page":"1250","DOI":"10.1212\/WNL.0000000000003124","article-title":"Cancer risk in DM1 is sex-related and linked to miRNA-200\/141 downregulation","volume":"87","author":"R Fern\u00e1ndez-Torr\u00f3n","year":"2016","journal-title":"Neurology"},{"issue":"4","key":"pone.0230003.ref032","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1002\/mus.25145","article-title":"A population-based survey of risk for cancer in individuals diagnosed with myotonic dystrophy","volume":"54","author":"D Abbott","year":"2016","journal-title":"Muscle Nerve"},{"issue":"1","key":"pone.0230003.ref033","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1002\/humu.20805","article-title":"Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.","volume":"30","author":"M Mitui","year":"2009","journal-title":"Hum Mutat"},{"issue":"8\u20139","key":"pone.0230003.ref034","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1016\/j.nmd.2004.03.012","article-title":"In situ hybridization analysis of Dmpk mRNA in adult mouse tissues","volume":"14","author":"PS Sarkar","year":"2004","journal-title":"Neuromuscul Disord"},{"key":"pone.0230003.ref035","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1016\/j.critrevonc.2014.03.004","article-title":"A systematic description of MLL fusion gene formation","volume":"91","author":"RL Wright","year":"2014","journal-title":"Crit Rev Oncol Hematol"},{"issue":"1","key":"pone.0230003.ref036","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1186\/s13073-017-0424-2","article-title":"Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden","volume":"9","author":"ZR Chalmers","year":"2017","journal-title":"Genome Med"},{"key":"pone.0230003.ref037","doi-asserted-by":"crossref","first-page":"12465","DOI":"10.1038\/ncomms12465","article-title":"Crosstalk between MSH2-MSH3 and pol\u03b2 promotes trinucleotide repeat expansion during base excision repair.","volume":"7","author":"Y Lai","year":"2016","journal-title":"Nat Commun"},{"issue":"8","key":"pone.0230003.ref038","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1101\/gad.14.8.927","article-title":"BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures","volume":"14","author":"Y Wang","year":"2000","journal-title":"Genes Dev"},{"issue":"1","key":"pone.0230003.ref039","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":"A Zampetti","year":"2015","journal-title":"J Am Acad Dermatol"},{"issue":"3","key":"pone.0230003.ref040","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1006\/geno.1996.0136","article-title":"Genomic organization of the human beta-catenin gene (CTNNB1).","volume":"32","author":"F Nollet","year":"1996","journal-title":"Genomics"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0230003","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T18:57:31Z","timestamp":1722538651000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0230003"}},"subtitle":[],"editor":[{"given":"Ruben","family":"Artero","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2020,3,10]]},"references-count":40,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2020,3,10]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0230003","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/844647","asserted-by":"object"}]},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,3,10]]}}}