{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T23:53:48Z","timestamp":1775865228985,"version":"3.50.1"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2011,11,12]],"date-time":"2011-11-12T00:00:00Z","timestamp":1321056000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arch Dermatol Res"],"published-print":{"date-parts":[[2012,3]]},"DOI":"10.1007\/s00403-011-1190-4","type":"journal-article","created":{"date-parts":[[2011,11,11]],"date-time":"2011-11-11T01:40:04Z","timestamp":1320975604000},"page":"171-176","source":"Crossref","is-referenced-by-count":21,"title":["Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity"],"prefix":"10.1007","volume":"304","author":[{"given":"O.","family":"Messaoud","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Ben Rekaya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Ouragini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Benfadhel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Azaiez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Kefi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Gouider-Khouja","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Mokhtar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Amouri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. S.","family":"Boubaker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Zghal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Abdelhak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2011,11,12]]},"reference":[{"key":"1190_CR1","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1038\/jhg.2009.50","volume":"54","author":"M Ben Rekaya","year":"2009","unstructured":"Ben Rekaya M, Messaoud O, Talmoudi F, Nouira S, Ouragini H, Amouri A, Boussen H, Boubaker S, Mokni M, Mokthar I, Abdelhak S, Zghal M (2009) High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis. J Hum Genet 54:426\u2013429","journal-title":"J Hum Genet"},{"key":"1190_CR2","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.mrfmmm.2006.06.010","volume":"601","author":"Y Hirai","year":"2006","unstructured":"Hirai Y, Kodama Y, Moriwaki S, Noda A, Cullings HM, Macphee DG, Kodama K, Mabuchi K, Kraemer KH, Land CE, Nakamura N (2006) Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population. Mutat Res 601:171\u2013178","journal-title":"Mutat Res"},{"key":"1190_CR3","doi-asserted-by":"crossref","first-page":"2055","DOI":"10.1038\/jid.2008.48","volume":"128","author":"H Inui","year":"2008","unstructured":"Inui H, Oh KS, Nadem C, Ueda T, Khan SG, Metin A, Gozukara E, Emmert S, Slor H, Busch DB, Baker CC, DiGiovanna JJ, Tamura D, Seitz CS, Gratchev A, Wu WH, Chung KY, Chung HJ, Azizi E, Woodgate R, Schneider TD, Kraemer KH (2008) Xeroderma pigmentosum-variant patients from America, Europe, and Asia. J Invest Dermatol 128:2055\u20132068","journal-title":"J Invest Dermatol"},{"key":"1190_CR4","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1016\/j.dnarep.2005.12.001","volume":"5","author":"B Koberle","year":"2006","unstructured":"Koberle B, Roginskaya V, Wood RD (2006) XPA protein as a limiting factor for nucleotide excision repair and UV sensitivity in human cells. DNA Repair (Amst) 5:641\u2013648","journal-title":"DNA Repair (Amst)"},{"key":"1190_CR5","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1111\/j.1365-2133.1995.tb02709.x","volume":"133","author":"M Kondoh","year":"1994","unstructured":"Kondoh M, Ueda M, Ichihashi M (1994) Correlation of the clinical manifestations and gene mutations of Japanese xeroderma pigmentosum group A patients. Br J Dermatol 133:579\u2013585","journal-title":"Br J Dermatol"},{"key":"1190_CR6","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1001\/archderm.1987.01660260111026","volume":"123","author":"KH Kraemer","year":"1987","unstructured":"Kraemer KH, Lee MM, Scotto J (1987) Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol 123:241\u2013250","journal-title":"Arch Dermatol"},{"key":"1190_CR7","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1016\/j.biochi.2003.09.010","volume":"11","author":"AR Lehmann","year":"2003","unstructured":"Lehmann AR (2003) DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. Biochimie 11:1101\u20131111","journal-title":"Biochimie"},{"key":"1190_CR8","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1111\/j.1365-4632.2010.04421.x","volume":"49","author":"O Messaoud","year":"2010","unstructured":"Messaoud O, Ben Rekaya M, Cherif W, Talmoudi F, Boussen H, Mokhtar I, Boubaker S, Amouri A, Abdelhak S, Zghal M (2010) Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients. Int J Dermatol 49:544\u2013548","journal-title":"Int J Dermatol"},{"key":"1190_CR9","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1111\/j.1365-2133.2010.09646.x","volume":"162","author":"O Messaoud","year":"2010","unstructured":"Messaoud O, Ben Rekaya M, Kefi R, Chebel S, Boughammoura-Bouatay A, Bel Hadj Ali H, Gouider-Khouja N, Zili J, Frih-Ayed M, Mokhtar I, Abdelhak S, Zghal M (2010) Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family. Br J Dermatol 162:883\u2013886","journal-title":"Br J Dermatol"},{"key":"1190_CR10","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","volume":"16","author":"SA Miller","year":"1988","unstructured":"Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215","journal-title":"Nucleic Acids Res"},{"key":"1190_CR11","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1001\/archderm.1994.01690020057009","volume":"130","author":"C Nishigori","year":"1994","unstructured":"Nishigori C, Moriwaki SI, Takebe H, Tanaka T, Imamura S (1994) Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan. Arch Dermatol 130:191\u2013197","journal-title":"Arch Dermatol"},{"key":"1190_CR12","first-page":"1001","volume":"53","author":"C Nishigori","year":"1993","unstructured":"Nishigori C, Zghal M, Yagi T, Imamura S, Komoun MR, Takebe H (1993) High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia. Am J Hum Genet 53:1001\u20131006","journal-title":"Am J Hum Genet"},{"key":"1190_CR13","doi-asserted-by":"crossref","first-page":"1442","DOI":"10.1212\/WNL.55.10.1442","volume":"55","author":"I Rapin","year":"2000","unstructured":"Rapin I, Lindenbaum Y, Dickson DW, Kraemer KH, Robbins JH (2000) Cockayne syndrome and xeroderma pigmentosum. Neurology 55:1442\u20131449","journal-title":"Neurology"},{"key":"1190_CR14","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/j.dnarep.2006.09.008","volume":"6","author":"A Rivera-Begeman","year":"2007","unstructured":"Rivera-Begeman A, McDaniel LD, Schultz RA, Friedberg EC (2007) A novel XPC pathogenic variant detected in archival material from a patient diagnosed with xeroderma pigmentosum: a case report and review of the genetic variants reported in XPC. DNA Repair (Amst) 6:100\u2013114","journal-title":"DNA Repair (Amst)"},{"key":"1190_CR15","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/0921-8777(92)90080-M","volume":"273","author":"I Satokata","year":"1992","unstructured":"Satokata I, Tanaka K, Miura N, Narita M, Mimaki T, Satoh Y, Kondo S, Okada Y (1992) Three nonsense mutations responsible for group A xeroderma pigmentosum. Mutat Res 273:193\u2013202","journal-title":"Mutat Res"},{"key":"1190_CR16","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1111\/j.1365-2133.2006.07272.x","volume":"155","author":"RU Sidwell","year":"2006","unstructured":"Sidwell RU, Sandison A, Wing J, Fawcett HD, Seet JE, Fisher C, Nardo T, Stefanini M, Lehmann AR, Cream JJ (2006) A novel mutation in the XPA gene associated with unusually mild clinical features in a patient who developed a spindle cell melanoma. Br J Dermatol 155:81\u201388","journal-title":"Br J Dermatol"},{"key":"1190_CR17","doi-asserted-by":"crossref","first-page":"1537","DOI":"10.1038\/jid.2009.409","volume":"130","author":"N Soufir","year":"2010","unstructured":"Soufir N, Ged C, Bourillon A, Austerlitz F, Chemin C, Stary A, Armier J, Pham D, Khadir K, Roume J, Hadj-Rabia S, Bouadjar B, Taieb A, de Verneuil H, Benchiki H, Grandchamp B, Sarasin A (2010) A prevalent mutation with founder effect in xeroderma pigmentosum group C from North Africa. J Invest Dermatol 130:1537\u20131542","journal-title":"J Invest Dermatol"},{"key":"1190_CR18","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1002\/(SICI)1098-1004(1998)12:2<103::AID-HUMU5>3.0.CO;2-6","volume":"12","author":"JC States","year":"1998","unstructured":"States JC, McDuffie ER, Myrand SP, McDowell M, Cleaver JE (1998) Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein. Hum Mutat 12:103\u2013113","journal-title":"Hum Mutat"},{"key":"1190_CR19","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1146\/annurev.bi.65.070196.001031","volume":"65","author":"RD Wood","year":"1996","unstructured":"Wood RD (1996) DNA repair in eukaryotes. Annu Rev Biochem 65:135\u2013167","journal-title":"Annu Rev Biochem"},{"key":"1190_CR20","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1007\/s00239-007-9000-5","volume":"65","author":"W Zhang","year":"2007","unstructured":"Zhang W, Bouffard GG, Wallace SS, Bond JP, NISC Comparative Sequencing Program (2007) Estimation of DNA sequence context-dependent mutation rates using primate genomic sequences. J Mol Evol 65:207\u2013214","journal-title":"J Mol Evol"}],"container-title":["Archives of Dermatological Research"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00403-011-1190-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00403-011-1190-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00403-011-1190-4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T13:37:45Z","timestamp":1559050665000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00403-011-1190-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,11,12]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2012,3]]}},"alternative-id":["1190"],"URL":"https:\/\/doi.org\/10.1007\/s00403-011-1190-4","relation":{},"ISSN":["0340-3696","1432-069X"],"issn-type":[{"value":"0340-3696","type":"print"},{"value":"1432-069X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,11,12]]}}}