{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T22:58:11Z","timestamp":1791068291252,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2002,5,10]],"date-time":"2002-05-10T00:00:00Z","timestamp":1020988800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Xeroderma pigmentosum (XP) is a sun\u2010sensitive and cancer\u2010prone genetic disorder consisting of seven genetically distinct complementation groups (groups A\u2013G). XP group D (XP\u2010D) is a heterogeneous group. Mutations in the XPD gene (<jats:italic>XPD<\/jats:italic>) can exhibit three distinct clinical phenotypes: XP, trichothiodystrophy (TTD), or XP combined with Cockayne syndrome. XPD protein is required for both nucleotide excision repair (NER) and basal transcription. Therefore, different mutations in <jats:italic>XPD<\/jats:italic> may affect NER and transcription activities to various degrees and result in such diverse phenotypes. In this study, we identified six causative mutations, two of which have not been described, in five XP\u2010D cell strains tested. The cell strains were all compound heterozygotes with different mutations. In all cell strains, one allele was thought to be functionally null and the other was a less severe allele with R683W, R683Q, and R666W substitutions. The second allele in each strain was specific to the XP phenotype. The findings are consistent with the hypothesis that the site of mutation of the <jats:italic>XPD<\/jats:italic> gene determines the clinical phenotype, XP or TTD. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10465","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T12:29:56Z","timestamp":1033907396000},"page":"248-252","source":"Crossref","is-referenced-by-count":19,"title":["Mutations in the <i>XPD<\/i> gene in xeroderma pigmentosum group D cell strains: Confirmation of genotype\u2010phenotype correlation"],"prefix":"10.1002","volume":"110","author":[{"given":"Takehiro","family":"Kobayashi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makoto","family":"Uchiyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuhei","family":"Fukuro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyoji","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,5,30]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/363114a0"},{"key":"e_1_2_5_3_1","first-page":"677","volume-title":"The metabolic and molecular bases of inherited disease","author":"Bootsma D","year":"2001"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/302063"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0694-189"},{"key":"e_1_2_5_6_1","first-page":"167","article-title":"Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome","volume":"56","author":"Broughton BC","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/368769a0"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.10.1783"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000247901"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/17.12.4713"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0921-8777(92)90072-B"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)9:4<322::AID-HUMU4>3.0.CO;2-7"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.8465201"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1994.tb06522.x"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/14.6.1101"},{"key":"e_1_2_5_17_1","first-page":"5656","article-title":"Defects in the DNA repair and transcription gene ERCC2 in the cancer\u2010prone disorder xeroderma pigmentosum group D","volume":"55","author":"Takayama K","year":"1995","journal-title":"Cancer Res"},{"key":"e_1_2_5_18_1","first-page":"263","article-title":"Defects in the DNA repair and transcription gene ERCC2 (XPD) in trichothiodystrophy","volume":"58","author":"Takayama K","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)9:6<519::AID-HUMU4>3.0.CO;2-X"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.16.8658"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10465","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10465","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T21:40:58Z","timestamp":1697492458000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10465"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,5,30]]},"references-count":19,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2002,7]]}},"alternative-id":["10.1002\/ajmg.10465"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10465","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,5,30]]}}}