{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T11:41:23Z","timestamp":1783597283379,"version":"3.55.0"},"reference-count":38,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2010,10,1]],"date-time":"2010-10-01T00:00:00Z","timestamp":1285891200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2010,10,1]],"date-time":"2010-10-01T00:00:00Z","timestamp":1285891200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2015,12,2]],"date-time":"2015-12-02T00:00:00Z","timestamp":1449014400000},"content-version":"vor","delay-in-days":1888,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["jidonline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Investigative Dermatology"],"published-print":{"date-parts":[[2010,10]]},"DOI":"10.1038\/jid.2010.137","type":"journal-article","created":{"date-parts":[[2010,6,24]],"date-time":"2010-06-24T08:44:17Z","timestamp":1277369057000},"page":"2481-2488","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":27,"title":["XPA Gene Mutations Resulting in Subtle Truncation of Protein in Xeroderma Pigmentosum Group A Patients with Mild Skin Symptoms"],"prefix":"10.1016","volume":"130","author":[{"given":"Yoshito","family":"Takahashi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoko","family":"Endo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshinori","family":"Sugiyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shintaro","family":"Inoue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masahiro","family":"Iijima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasushi","family":"Tomita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Kuru","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masahiro","family":"Takigawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinichi","family":"Moriwaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1038\/jid.2010.137_bb0010","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/S0065-2660(01)43004-5","article-title":"Xeroderma pigmentosum and related disorders: defects in DNA repair and transcription","volume":"43","author":"Berneburg","year":"2001","journal-title":"Adv Genet"},{"key":"10.1038\/jid.2010.137_bb0015","doi-asserted-by":"crossref","first-page":"1685","DOI":"10.1093\/hmg\/4.9.1685","article-title":"A deletion and an insertion in the alleles for the xeroderma pigmentosum (XPA) DNA-binding protein in mildly affected patients","volume":"4","author":"Cleaver","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1038\/jid.2010.137_bb0020","series-title":"The Metabolic and Molecular Bases of Inherited Disease","first-page":"4393","article-title":"Xeroderma pigmentosum and Cockayne syndrome","author":"Cleaver","year":"1995"},{"key":"10.1038\/jid.2010.137_bb0025","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1002\/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6","article-title":"A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy","volume":"14","author":"Cleaver","year":"1999","journal-title":"Hum Mutat"},{"key":"10.1038\/jid.2010.137_bb0030","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1093\/carcin\/21.3.453","article-title":"Nucleotide excision repair and human syndromes","volume":"21","author":"de Boer","year":"2000","journal-title":"Carcinogenesis"},{"key":"10.1038\/jid.2010.137_bb0035","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1111\/j.0022-202X.2005.23745.x","article-title":"Two new XPD patients compound heterozygous for the same mutation demonstrate diverse clinical features","volume":"125","author":"Fujimoto","year":"2005","journal-title":"J Invest Dermatol"},{"key":"10.1038\/jid.2010.137_bb0040","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.mrfmmm.2006.06.010","article-title":"Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population","volume":"601","author":"Hirai","year":"2006","journal-title":"Mutat Res"},{"key":"10.1038\/jid.2010.137_bb0045","series-title":"Dermatology in General Medicine","article-title":"Heritable diseases with increased sensitivity to cellular injury","author":"Kraemer","year":"1993"},{"key":"10.1038\/jid.2010.137_bb0050","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1001\/archderm.1994.01690080084012","article-title":"The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm","volume":"130","author":"Kraemer","year":"1994","journal-title":"Arch Dermatol"},{"key":"10.1038\/jid.2010.137_bb0055","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1001\/archderm.1987.01660260111026","article-title":"Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases","volume":"123","author":"Kraemer","year":"1987","journal-title":"Arch Dermatol"},{"key":"10.1038\/jid.2010.137_bb0060","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1111\/j.1399-0004.1995.tb04094.x","article-title":"Chronological difference in walking impairment among Japanese group A xeroderma pigmentosum (XP-A) patients with various combinations of mutation sites","volume":"48","author":"Maeda","year":"1995","journal-title":"Clin Genet"},{"key":"10.1038\/jid.2010.137_bb0065","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1111\/1523-1747.ep12335796","article-title":"PCR-RFLP analysis as an aid to genetic counseling of families of Japanese patients with group A xeroderma pigmentosum","volume":"109","author":"Maeda","year":"1997","journal-title":"J Invest Dermatol"},{"key":"10.1038\/jid.2010.137_bb0070","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1046\/j.1365-2133.2000.03611.x","article-title":"Compound heterozygous group A xeroderma pigmentosum patient with a novel mutation and an inherited reciprocal translocation","volume":"143","author":"Maeda","year":"2000","journal-title":"Br J Dermatol"},{"key":"10.1038\/jid.2010.137_bb0075","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1111\/j.1651-2227.1996.tb14074.x","article-title":"Truncated XPA protein detected in atypical group A xeroderma pigmentosum","volume":"85","author":"Mimaki","year":"1996","journal-title":"Acta Paediatr"},{"key":"10.1038\/jid.2010.137_bb0080","doi-asserted-by":"crossref","first-page":"19786","DOI":"10.1016\/S0021-9258(18)55060-2","article-title":"Identification and characterization of xpac protein, the gene product of the human XPAC (xeroderma pigmentosum group A complementing) gene","volume":"266","author":"Miura","year":"1991","journal-title":"J Biol Chem"},{"key":"10.1038\/jid.2010.137_bb0085","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1034\/j.1600-0781.2001.017002047.x","article-title":"Xeroderma pigmentosum\u2014bridging a gap between clinic and laboratory","volume":"17","author":"Moriwaki","year":"2001","journal-title":"Photodermatol Photoimmunol Photomed"},{"key":"10.1038\/jid.2010.137_bb0090","doi-asserted-by":"crossref","first-page":"966","DOI":"10.1001\/archderm.1992.01680170098015","article-title":"Amyloidosis cutis dyschromica. DNA repair reduction in the cellular response to UV light","volume":"128","author":"Moriwaki","year":"1992","journal-title":"Arch Dermatol"},{"key":"10.1038\/jid.2010.137_bb0095","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1111\/1523-1747.ep12360046","article-title":"Absence of DNA repair deficiency in the confirmed heterozygotes of xeroderma pigmentosum group A","volume":"101","author":"Moriwaki","year":"1993","journal-title":"J Invest Dermatol"},{"key":"10.1038\/jid.2010.137_bb0100","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/j.jdermsci.2007.08.011","article-title":"Photoaging and DNA repair","volume":"50","author":"Moriwaki","year":"2008","journal-title":"J Dermatol Sci"},{"key":"10.1038\/jid.2010.137_bb0105","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1001\/archderm.1994.01690020057009","article-title":"Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan","volume":"130","author":"Nishigori","year":"1994","journal-title":"Arch Dermatol"},{"key":"10.1038\/jid.2010.137_bb0110","first-page":"1001","article-title":"High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A\u2013complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia","volume":"53","author":"Nishigori","year":"1993","journal-title":"Am J Hum Genet"},{"key":"10.1038\/jid.2010.137_bb0115","doi-asserted-by":"crossref","first-page":"22991","DOI":"10.1074\/jbc.272.37.22991","article-title":"DNA damage recognition by XPA protein promotes efficient recruitment of transcription factor II H","volume":"272","author":"Nocentini","year":"1997","journal-title":"J Biol Chem"},{"key":"10.1038\/jid.2010.137_bb0120","doi-asserted-by":"crossref","first-page":"4896","DOI":"10.1074\/jbc.270.9.4896","article-title":"The general transcription-repair factor TFIIH is recruited to the excision repair complex by the XPA protein independent of the TFIIE transcription factor","volume":"270","author":"Park","year":"1995","journal-title":"J Biol Chem"},{"key":"10.1038\/jid.2010.137_bb0125","doi-asserted-by":"crossref","first-page":"6622","DOI":"10.1073\/pnas.82.19.6622","article-title":"One pyrimidine dimer inactivates expression of a transfected gene in xeroderma pigmentosum cells","volume":"82","author":"Protic-Sabljic","year":"1985","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1038\/jid.2010.137_bb0130","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1016\/j.cell.2007.08.043","article-title":"Defective DNA repair and neurodegenerative disease","volume":"130","author":"Rass","year":"2007","journal-title":"Cell"},{"key":"10.1038\/jid.2010.137_bb0135","doi-asserted-by":"crossref","first-page":"9463","DOI":"10.1073\/pnas.94.17.9463","article-title":"In vitro repair of oxidative DNA damage by human nucleotide excision repair system: possible explanation for neurodegeneration in xeroderma pigmentosum patients","volume":"94","author":"Reardon","year":"1997","journal-title":"Proc Natl Acad Sci USA"},{"issue":"Part 3","key":"10.1038\/jid.2010.137_bb0140","doi-asserted-by":"crossref","first-page":"1335","DOI":"10.1093\/brain\/114.3.1335","article-title":"Neurological disease in xeroderma pigmentosum. Documentation of a late onset type of the juvenile onset form","volume":"114","author":"Robbins","year":"1991","journal-title":"Brain"},{"key":"10.1038\/jid.2010.137_bb0145","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/0921-8777(95)00052-6","article-title":"Aberrant splicing and truncated-protein expression due to a newly identified XPA gene mutation","volume":"362","author":"Sato","year":"1996","journal-title":"Mutat Res"},{"key":"10.1038\/jid.2010.137_bb0150","doi-asserted-by":"crossref","first-page":"9908","DOI":"10.1073\/pnas.87.24.9908","article-title":"Characterization of a splicing mutation in group A xeroderma pigmentosum","volume":"87","author":"Satokata","year":"1990","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1038\/jid.2010.137_bb0155","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/0921-8777(92)90080-M","article-title":"Three nonsense mutations responsible for group A xeroderma pigmentosum","volume":"273","author":"Satokata","year":"1992","journal-title":"Mutat Res"},{"key":"10.1038\/jid.2010.137_bb0160","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/0921-8777(92)90081-D","article-title":"Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum","volume":"273","author":"Satokata","year":"1992","journal-title":"Mutat Res"},{"key":"10.1038\/jid.2010.137_bb0165","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1046\/j.0022-202x.2001.01613.x","article-title":"Hyaluronan synthase 3 regulates hyaluronan synthesis in cultured human keratinocytes","volume":"118","author":"Sayo","year":"2002","journal-title":"J Invest Dermatol"},{"key":"10.1038\/jid.2010.137_bb0170","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1111\/j.1365-2133.2006.07272.x","article-title":"A novel mutation in the XPA gene associated with unusually mild clinical features in a patient who developed a spindle cell melanoma","volume":"155","author":"Sidwell","year":"2006","journal-title":"Br J Dermatol"},{"key":"10.1038\/jid.2010.137_bb0175","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1002\/(SICI)1098-1004(1998)12:2<103::AID-HUMU5>3.0.CO;2-6","article-title":"Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein","volume":"12","author":"States","year":"1998","journal-title":"Hum Mutat"},{"key":"10.1038\/jid.2010.137_bb0180","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1111\/j.0022-202X.2004.23591.x","article-title":"Decreased gene expression responsible for post-ultraviolet DNA repair synthesis in aging: a possible mechanism of age-related reduction in DNA repair capacity","volume":"124","author":"Takahashi","year":"2005","journal-title":"J Invest Dermatol"},{"key":"10.1038\/jid.2010.137_bb0185","first-page":"1135","article-title":"Genetics and skin cancer of xeroderma pigmentosum in Japan","volume":"78","author":"Takebe","year":"1987","journal-title":"Jpn J Cancer Res"},{"key":"10.1038\/jid.2010.137_bb0190","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1038\/348073a0","article-title":"Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain","volume":"348","author":"Tanaka","year":"1990","journal-title":"Nature"},{"key":"10.1038\/jid.2010.137_bb0195","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1111\/j.0022-202X.2005.23783.x","article-title":"A novel XPA gene mutation and its functional analysis in a Japanese patient with xeroderma pigmentosum group A","volume":"125","author":"Tanioka","year":"2005","journal-title":"J Invest Dermatol"}],"container-title":["Journal of Investigative Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X15345619?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X15345619?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,4,6]],"date-time":"2025-04-06T11:38:12Z","timestamp":1743939492000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022202X15345619"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,10]]},"references-count":38,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2010,10]]}},"alternative-id":["S0022202X15345619"],"URL":"https:\/\/doi.org\/10.1038\/jid.2010.137","relation":{},"ISSN":["0022-202X"],"issn-type":[{"value":"0022-202X","type":"print"}],"subject":[],"published":{"date-parts":[[2010,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"XPA Gene Mutations Resulting in Subtle Truncation of Protein in Xeroderma Pigmentosum Group A Patients with Mild Skin Symptoms","name":"articletitle","label":"Article Title"},{"value":"Journal of Investigative Dermatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1038\/jid.2010.137","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2010 The Society for Investigative Dermatology, Inc. Published by Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}