{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T12:16:33Z","timestamp":1777637793020,"version":"3.51.4"},"reference-count":34,"publisher":"Spandidos Publications","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,6]]},"DOI":"10.3892\/mmr.2017.6465","type":"journal-article","created":{"date-parts":[[2017,4,12]],"date-time":"2017-04-12T08:54:40Z","timestamp":1491987280000},"page":"3735-3738","source":"Crossref","is-referenced-by-count":4,"title":["A novel splice-site mutation of WRN (c.IVS28+2T&gt;C) identified in a consanguineous family with Werner Syndrome"],"prefix":"10.3892","volume":"15","author":[{"given":"Pan-Feng","family":"Wu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie-Yuan","family":"Jin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing-Jing","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ji-Qiang","family":"He","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liang-Liang","family":"Fan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Jin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hao","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kun","family":"Xia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ju-Yu","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rong","family":"Xiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2249","published-online":{"date-parts":[[2017,4,12]]},"reference":[{"key":"key20180108020019_b1-mmr-15-06-3735","first-page":"213","article-title":"Epidemiology and clinical aspects of Werner's syndrome in North Sardinia: Description of a cluster","volume":"17","author":"Masala","year":"2007","journal-title":"Eur J Dermatol"},{"key":"key20180108020019_b2-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"1355","DOI":"10.1126\/science.1079161","article-title":"Aging and genome maintenance: Lessons from the mouse?","volume":"299","author":"Hasty","year":"2003","journal-title":"Science"},{"key":"key20180108020019_b3-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1016\/S0140-6736(03)14069-X","article-title":"LMNA mutations in atypical Werner's syndrome","volume":"362","author":"Chen","year":"2003","journal-title":"Lancet"},{"key":"key20180108020019_b4-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1007\/s00439-008-0562-0","article-title":"The clinical characteristics of Werner syndrome: Molecular and biochemical diagnosis","volume":"124","author":"Muftuoglu","year":"2008","journal-title":"Hum Genet"},{"key":"key20180108020019_b5-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1159\/000356030","article-title":"Search and insights into novel genetic alterations leading to classical and atypical Werner syndrome","volume":"60","author":"Oshima","year":"2014","journal-title":"Gerontology"},{"key":"key20180108020019_b6-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/s00439-010-0832-5","article-title":"WRN mutations in Werner syndrome patients: Genomic rearrangements, unusual intronic mutations and ethnic-specific alterations","volume":"128","author":"Friedrich","year":"2010","journal-title":"Hum Genet"},{"key":"key20180108020019_b7-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1126\/science.272.5259.258","article-title":"Positional cloning of the Werner's syndrome gene","volume":"272","author":"Yu","year":"1996","journal-title":"Science"},{"key":"key20180108020019_b8-mmr-15-06-3735","first-page":"667","article-title":"Progeria: A rare genetic premature ageing disorder","volume":"139","author":"Sinha","year":"2014","journal-title":"Indian J Med Res"},{"key":"key20180108020019_b9-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"34603","DOI":"10.1074\/jbc.M401901200","article-title":"Biochemical and kinetic characterization of the DNA helicase and exonuclease activities of werner syndrome protein","volume":"279","author":"Choudhary","year":"2004","journal-title":"J Biol Chem"},{"key":"key20180108020019_b10-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"13483","DOI":"10.1021\/bi0266986","article-title":"The Werner syndrome helicase\/exonuclease (WRN) disrupts and degrades D-loops in vitro","volume":"41","author":"Orren","year":"2002","journal-title":"Biochemistry"},{"key":"key20180108020019_b11-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"1160","DOI":"10.1126\/science.aaa1356","article-title":"Aging stem cells. A Werner syndrome stem cell model unveils heterochromatin alterations as a driver of human aging","volume":"348","author":"Zhang","year":"2015","journal-title":"Science"},{"key":"key20180108020019_b12-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"2560","DOI":"10.1101\/gad.1321305","article-title":"Elevated telomere-telomere recombination in WRN-deficient, telomere dysfunctional cells promotes escape from senescence and engagement of the ALT pathway","volume":"19","author":"Laud","year":"2005","journal-title":"Gen Dev"},{"key":"key20180108020019_b13-mmr-15-06-3735","unstructured":"EllerMSLiaoXLiuSHannaKB\u00e4ckvallHOpreskoPLBohrVAGilchrestBAA role for WRN in telomere-based DNA damage responsesProc Natl Acad Sci USA1031507315078200610.1073\/pnas.0607332103170158331586178"},{"key":"key20180108020019_b14-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1111\/j.1474-9726.2006.00260.x","article-title":"Functional role of the Werner syndrome RecQ helicase in human fibroblasts","volume":"6","author":"Dhillon","year":"2007","journal-title":"Aging Cell"},{"key":"key20180108020019_b15-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1038\/nrm2161","article-title":"Werner and Hutchinson-Gilford progeria syndromes: Mechanistic basis of human progeroid diseases","volume":"8","author":"Kudlow","year":"2007","journal-title":"Nat Rev Mol Cell Biol"},{"key":"key20180108020019_b16-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"re3","DOI":"10.1126\/sageke.2004.13.re3","article-title":"Werner syndrome protein-unwinding function to explain disease","volume":"2004","author":"Monnat","year":"2004","journal-title":"Sci Aging Knowledge Environ"},{"key":"key20180108020019_b17-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"1426","DOI":"10.1126\/science.1102587","article-title":"What can progeroid syndromes tell us about human aging?","volume":"305","author":"Kipling","year":"2004","journal-title":"Science"},{"key":"key20180108020019_b18-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1136\/jmg.2003.015651","article-title":"Novel lamin A\/C gene (LMNA) mutations in atypical progeroid syndromes","volume":"41","author":"Csoka","year":"2004","journal-title":"J Med Genet"},{"key":"key20180108020019_b19-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"e11","DOI":"10.1161\/STROKEAHA.108.531780","article-title":"Novel LMNA mutation in atypical Werner syndrome presenting with ischemic disease","volume":"40","author":"Renard","year":"2009","journal-title":"Stroke"},{"key":"key20180108020019_b20-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"1070","DOI":"10.1002\/humu.22833","article-title":"POLD1 germline mutations in patients initially diagnosed with Werner syndrome","volume":"36","author":"Lessel","year":"2015","journal-title":"Human mutation"},{"key":"key20180108020019_b21-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1007\/978-1-62703-239-1_16","article-title":"Detection of nuclear envelope alterations in senescence","volume":"965","author":"Barcena","year":"2013","journal-title":"Methods Mol Biol"},{"key":"key20180108020019_b22-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1111\/j.1399-0004.2011.01787.x","article-title":"Novel ZFPM2\/FOG2 variants in patients with double outlet right ventricle","volume":"82","author":"Tan","year":"2012","journal-title":"Clin Genet"},{"key":"key20180108020019_b23-mmr-15-06-3735","article-title":"A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis","author":"Xiang","year":"2013","journal-title":"Gene"},{"key":"key20180108020019_b24-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"1792","DOI":"10.1093\/nar\/gkh340","article-title":"MUSCLE: Multiple sequence alignment with high accuracy and high throughput","volume":"32","author":"Edgar","year":"2004","journal-title":"Nucleic Acids Res"},{"key":"key20180108020019_b25-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1007\/s12015-014-9564-6","article-title":"Robust generation of cardiomyocytes from human iPS cells requires precise modulation of BMP and WNT signaling","volume":"11","author":"Kadari","year":"2015","journal-title":"Stem Cell Rev"},{"key":"key20180108020019_b26-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1111\/j.1365-2249.2008.03763.x","article-title":"Skew in T cell receptor usage with polyclonal expansion in lesions of oral lichen planus without hepatitis C virus infection","volume":"154","author":"Gotoh","year":"2008","journal-title":"Clin Exp Immunol"},{"key":"key20180108020019_b27-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1186\/1471-2415-14-31","article-title":"Werner syndrome with refractory cystoid macular edema and immunohistochemical analysis of WRN proteins in human retinas","volume":"14","author":"Oshitari","year":"2014","journal-title":"BMC Ophthalmol"},{"key":"key20180108020019_b28-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1101\/gad.877001","article-title":"Loss of Werner syndrome protein function promotes aberrant mitotic recombination","volume":"15","author":"Prince","year":"2001","journal-title":"Genes Dev"},{"key":"key20180108020019_b29-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"6971","DOI":"10.1128\/MCB.22.20.6971-6978.2002","article-title":"Homologous recombination resolution defect in werner syndrome","volume":"22","author":"Saintigny","year":"2002","journal-title":"Mol Cell Biol"},{"key":"key20180108020019_b30-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1038\/ng1389","article-title":"Essential role of limiting telomeres in the pathogenesis of Werner syndrome","volume":"36","author":"Chang","year":"2004","journal-title":"Nat Genet"},{"key":"key20180108020019_b31-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"1951","DOI":"10.1126\/science.1103619","article-title":"Defective telomere lagging strand synthesis in cells lacking WRN helicase activity","volume":"306","author":"Crabbe","year":"2004","journal-title":"Science"},{"key":"key20180108020019_b32-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1038\/nrg3958","article-title":"Ageing: Heterochromatin disorganization associated with premature ageing","volume":"16","author":"Jones","year":"2015","journal-title":"Nat Rev Genet"},{"key":"key20180108020019_b33-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1242\/jcs.158915","article-title":"Nuclear pore targeting of the yeast Pom33 nucleoporin depends on karyopherin and lipid binding","volume":"128","author":"Floch","year":"2015","journal-title":"J Cell Sci"},{"key":"key20180108020019_b34-mmr-15-06-3735","doi-asserted-by":"crossref","first-page":"1909","DOI":"10.1093\/hmg\/5.12.1909","article-title":"Homozygous and compound heterozygous mutations at the Werner syndrome locus","volume":"5","author":"Oshima","year":"1996","journal-title":"Hum Mol Genet"}],"container-title":["Molecular Medicine Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/spandidos-publications.com\/10.3892\/mmr.2017.6465\/download","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,1,8]],"date-time":"2018-01-08T04:00:24Z","timestamp":1515384024000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.spandidos-publications.com\/10.3892\/mmr.2017.6465"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,12]]},"references-count":34,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2017,4,12]]},"published-print":{"date-parts":[[2017,6]]}},"alternative-id":["10.3892\/mmr.2017.6465"],"URL":"https:\/\/doi.org\/10.3892\/mmr.2017.6465","relation":{},"ISSN":["1791-2997","1791-3004"],"issn-type":[{"value":"1791-2997","type":"print"},{"value":"1791-3004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4,12]]}}}