{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T15:50:23Z","timestamp":1762876223446},"reference-count":39,"publisher":"Japan Endocrine Society","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Endocr J"],"published-print":{"date-parts":[[2021]]},"DOI":"10.1507\/endocrj.ej20-0448","type":"journal-article","created":{"date-parts":[[2020,10,19]],"date-time":"2020-10-19T22:07:38Z","timestamp":1603145258000},"page":"261-267","source":"Crossref","is-referenced-by-count":7,"title":["Severe metabolic disorders coexisting with Werner syndrome: a case report"],"prefix":"10.1507","volume":"68","author":[{"given":"Huan","family":"Li","sequence":"first","affiliation":[{"name":"Department of Endocrinology, The Second Hospital of Jilin University, Changchun, Jilin, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maoguang","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, The Second Hospital of Jilin University, Changchun, Jilin, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, The Second Hospital of Jilin University, Changchun, Jilin, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sisi","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, The Second Hospital of Jilin University, Changchun, Jilin, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanqing","family":"Cai","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, The Second Hospital of Jilin University, Changchun, Jilin, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"386","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1 Epstein CJ, Martin GM, Schultz AL, Motulsky AG (1966) Werner\u2019s syndrome a review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process. Medicine (Baltimore) 45: 177\u2013221.","DOI":"10.1097\/00005792-196605000-00001"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2 Tollefsbol TO, Cohen HJ (1984) The effect of age on the accumulation of labile triosephosphate isomerase and thymidine incorporation in pokeweed mitogen stimulated human lymphocytes. J Gerontol 39: 398\u2013405.","DOI":"10.1093\/geronj\/39.4.398"},{"key":"3","unstructured":"3 (1985) On cataract in conjunction with scleroderma. Otto Werner, doctoral dissertation, 1904, Royal Ophthalmology Clinic, Royal Christian Albrecht University of Kiel. Adv Exp Med Biol 190: 1\u201314."},{"key":"4","doi-asserted-by":"crossref","unstructured":"4 Huang S, Lee L, Hanson NB, Lenaerts C, Hoehn H, et al. (2006) The spectrum of WRN mutations in Werner syndrome patients. Hum Mutat 27: 558\u2013567.","DOI":"10.1002\/humu.20337"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5 Takemoto M, Mori S, Kuzuya M, Yoshimoto S, Shimamoto A, et al. (2013) Diagnostic criteria for Werner syndrome based on Japanese nationwide epidemiological survey. Geriatr Gerontol Int 13: 475\u2013481.","DOI":"10.1111\/j.1447-0594.2012.00913.x"},{"key":"6","unstructured":"6 Goto M, Miller RW, Ishikawa Y, Sugano H (1996) Excess of rare cancers in Werner\u2019s syndrome (adult progeria). Cancer Epidemiol Biomarkers Prev 5: 239\u2013246."},{"key":"7","doi-asserted-by":"crossref","unstructured":"7 Goto M, Tanimoto K, Horiuchi Y, Sasazuki T (1981) Family analysis of Werner\u2019s syndrome: a survey of 42 Japanese families with a review of the literature. Clin Genet 19: 8\u201315.","DOI":"10.1111\/j.1399-0004.1981.tb00660.x"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8 Imura H, Nakao Y, Kuzuya H, Okamoto M, Okamoto M, et al. (1985) Clinical, endocrine and metabolic aspects of the Werner syndrome compared with those of normal aging. Adv Exp Med Biol 190: 171\u2013185.","DOI":"10.1007\/978-1-4684-7853-2_6"},{"key":"9","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1038\/355735a0","volume":"355","author":"M Goto","year":"1992","unstructured":"9 Goto M, Rubenstein M, Weber J, Woods K, Drayna D, et al. (1992) Genetic linkage of Werner\u2019s syndrome to five markers on chromosome 8. Nature 355: 735\u2013738.","journal-title":"?Nature","ISSN":"http:\/\/id.crossref.org\/issn\/0028-0836","issn-type":"print"},{"key":"10","doi-asserted-by":"publisher","unstructured":"10 Yu CE, Oshima J, Fu YH, Wijsman EM, Hisama F, et al. (1996) Schellenberg, Positional cloning of the Werner\u2019s syndrome gene. Science 272: 258\u2013262.","DOI":"10.1126\/science.272.5259.258"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11 Goto M, Imamura O, Kuromitsu J, Matsumoto T, Yamabe Y, et al. (1997) Analysis of helicase gene mutations in Japanese Werner\u2019s syndrome patients. Hum Genet 99: 191\u2013193.","DOI":"10.1007\/s004390050336"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12 Lebel M, Monnat RJ Jr (2018) Werner syndrome (WRN) gene variants and their association with altered function and age-associated diseases. Ageing Res Rev 41: 82\u201397.","DOI":"10.1016\/j.arr.2017.11.003"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13 Oshima J, Sidorova JM, Monnat RJ Jr (2017) Werner syndrome: clinical features, pathogenesis and potential therapeutic interventions. Ageing Res Rev 33: 105\u2013114.","DOI":"10.1016\/j.arr.2016.03.002"},{"key":"14","unstructured":"14 Masala MV, Scapaticci S, Olivieri C, Pirodda C, Montesu MA, et al. (2007) Epidemiology and clinical aspects of Werner\u2019s syndrome in North Sardinia: description of a cluster. Eur J Dermatol 17: 213\u2013216."},{"key":"15","doi-asserted-by":"crossref","unstructured":"15 Goto M (1997) Hierarchical deterioration of body systems in Werner\u2019s syndrome: implications for normal ageing. Mech Ageing Dev 98: 239\u2013254.","DOI":"10.1016\/S0047-6374(97)00111-5"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16 Khajavi M, Inoue K, Lupski JR (2006) Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet 14: 1074\u20131081.","DOI":"10.1038\/sj.ejhg.5201649"},{"key":"17","unstructured":"17 Goto M, Ishikawa Y, Sugimoto M, Furuichi Y (2013) Werner syndrome: a changing pattern of clinical manifestations in Japan (1917~2008). Biosci Trends 7: 13\u201322."},{"key":"18","unstructured":"18 Ren J, Liu XK, Li XS, Wang XH, Wang GQ (2012) Mutation analysis in WRN gene in a patient with Werner syndrome accompanied by nerve deafness. Diagnosis and Treatment of Dermatology J 19: 339\u2013342 (In Chinese)."},{"key":"19","unstructured":"19 Liang D, Zhuang EX (1983) A report on Werner syndrome. New Developments in Ophthalmology J 04: 278\u2013280 (In Chinese)."},{"key":"20","unstructured":"20 Shi YD, Zhang XJ, Wu SN, Qi FZ (2003) A report on Werner\u2019s syndrome with chronic right heel ulcer. Chinese Plastic Surgery J 01: 77 (In Chinese)."},{"key":"21","unstructured":"21 Zhu J, Zhu GD, Shi WM (2012) A report on Werner syndrome. Chinese Society for Integrated Chinese and Western Medicine C: 112 (In Chinese)."},{"key":"22","unstructured":"22 Zhu P, Yan L, Zhou ZY (2009) A report on Werner syndrome. Guangdong Med J 30: 831 (In Chinese)."},{"key":"23","unstructured":"23 Sun HY, Zhao L, Ding XY, Gu MY, Huang YH, et al. (2016) Clinical study of LMNA gene mutation leading to atypical Werner syndrome with diabetes mellitus. Shanghai Med J 39: 684\u2013686 (In Chinese)."},{"key":"24","doi-asserted-by":"crossref","unstructured":"24 Hao S, Feng J, Zhang L, Tang J, Wu Z, et al. (2011) Rapid recurrence of petroclival meningioma in Werner syndrome: case report. Clin Neurol Neurosurg 113: 795\u2013797.","DOI":"10.1016\/j.clineuro.2011.08.008"},{"key":"25","unstructured":"25 Li RX (1984) Werner syndrome with atrioventricular conduction disorder: a case report. Bethune Medical University J 01: 15 (In Chinese)."},{"key":"26","unstructured":"26 Wang CX, Zhang WE (1998) A report on adults progeria. Chinese Medical Imaging J 03: 3\u20135 (In Chinese)."},{"key":"27","unstructured":"27 Cao YF, Zhao HM, Wang Y, Shen Y, Zheng MX, et al. (2012) A report of rare Werner syndrome. Clin Misdiagnosis and Misdiagnosis J 25: 23\u201324 (In Chinese)."},{"key":"28","unstructured":"28 Li SS, Fei JP, Xiang SK, He JW, Fu WZ, et al. (2016) Middle-aged male: premature aging - hypogonadism - cataract. Chinese Osteoporosis and Bone Mineral Disease J 9: 308\u2013313 (In Chinese)."},{"key":"29","doi-asserted-by":"crossref","unstructured":"29 He G, Yan Z, Sun L, Lv Y, Guo WY, et al. (2019) Diabetes mellitus coexisted with progeria: a case report of atypical Werner syndrome with novel LMNA mutations and literature review. Endocr J 66: 961\u2013969.","DOI":"10.1507\/endocrj.EJ19-0014"},{"key":"30","doi-asserted-by":"crossref","unstructured":"30 Chen CL, Yang JS, Zhang X, Tian T, Zeng R, et al. (2018) A case report of Werner\u2019s syndrome with bilateral juvenile cataracts. BMC Ophthalmol 18: 199.","DOI":"10.1186\/s12886-018-0873-4"},{"key":"31","doi-asserted-by":"crossref","unstructured":"31 He J, Pan D, Wu P, Tang J (2018) Recurrent skin ulcer cross-repair and sensory reconstruction in a WRN gene mutational patient. An Bras Dermatol 93: 443\u2013446.","DOI":"10.1590\/abd1806-4841.20187517"},{"key":"32","doi-asserted-by":"crossref","unstructured":"32 Zhao N, Hao F, Qu T, Zuo YG, Wang BX (2008) A novel mutation of the WRN gene in a Chinese patient with Werner syndrome. Clin Exp Dermatol 33: 278\u2013281.","DOI":"10.1111\/j.1365-2230.2007.02641.x"},{"key":"33","doi-asserted-by":"crossref","unstructured":"33 Wu PF, Jin JY, Li JJ, He JQ, Fan LL, et al. (2017) A novel splice-site mutation of WRN (c.IVS28+2T>C) identified in a consanguineous family with Werner syndrome. Mol Med Rep 15: 3735\u20133738.","DOI":"10.3892\/mmr.2017.6465"},{"key":"34","doi-asserted-by":"publisher","unstructured":"34 Lautrup S, Caponio D, Cheung HH, Piccoli C, Stevnsner T, et al. (2019) Studying Werner syndrome to elucidate mechanisms and therapeutics of human aging and age-related diseases. Biogerontology 20: 255\u2013269.","DOI":"10.1007\/s10522-019-09798-2"},{"key":"35","doi-asserted-by":"crossref","unstructured":"35 Hui CW, St-Pierre MK, Detuncq J, Aumailley L, Dubois MJ, et al. (2018) Nonfunctional mutant Wrn protein leads to neurological deficits, neuronal stress, microglial alteration, and immune imbalance in a mouse model of Werner syndrome. Brain Behav Immun 73: 450\u2013469.","DOI":"10.1016\/j.bbi.2018.06.007"},{"key":"36","doi-asserted-by":"crossref","unstructured":"36 Oshima J, Sidorova JM, Monnat RJ Jr (2017) Werner syndrome: clinical features, pathogenesis and potential therapeutic interventions. Ageing Res Rev 33: 105\u2013114.","DOI":"10.1016\/j.arr.2016.03.002"},{"key":"37","doi-asserted-by":"crossref","unstructured":"37 Bikkul MU, Clements CS, Godwin LS, Goldberg MW, Kill IR, et al. (2018) Farnesyltransferase inhibitor and rapamycin correct aberrant genome organisation and decrease DNA damage respectively, in Hutchinson-Gilford progeria syndrome fibroblasts. Biogerontology 19: 579\u2013602.","DOI":"10.1007\/s10522-018-9758-4"},{"key":"38","doi-asserted-by":"crossref","unstructured":"38 Shimamoto A, Yokote K, Tahara H (2015) Werner syndrome-specific induced pluripotent stem cells: recovery of telomere function by reprogramming. Front Genet 6: 10.","DOI":"10.3389\/fgene.2015.00010"},{"key":"39","doi-asserted-by":"crossref","unstructured":"39 Wu Z, Zhang W, Song M, Wang W, Wei G, et al. (2018) Differential stem cell aging kinetics in Hutchinson-Gilford progeria syndrome and Werner syndrome. Protein Cell 9: 333\u2013350.","DOI":"10.1007\/s13238-018-0517-8"}],"container-title":["Endocrine Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/endocrj\/68\/3\/68_EJ20-0448\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,3]],"date-time":"2021-04-03T03:26:47Z","timestamp":1617420407000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/endocrj\/68\/3\/68_EJ20-0448\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021]]},"references-count":39,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.1507\/endocrj.ej20-0448","relation":{},"ISSN":["0918-8959","1348-4540"],"issn-type":[{"value":"0918-8959","type":"print"},{"value":"1348-4540","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021]]}}}