{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:54:17Z","timestamp":1791291257247,"version":"4.3.0"},"reference-count":59,"publisher":"Oxford University Press (OUP)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012,3,15]]},"DOI":"10.1093\/hmg\/ddr556","type":"journal-article","created":{"date-parts":[[2011,11,26]],"date-time":"2011-11-26T02:02:09Z","timestamp":1322272929000},"page":"1260-1271","source":"Crossref","is-referenced-by-count":59,"title":["Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms"],"prefix":"10.1093","volume":"21","author":[{"given":"Francesca","family":"Fusco","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariateresa","family":"Paciolla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Napolitano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Pescatore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"D'Addario","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elodie","family":"Bal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Brigida","family":"Lioi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asma","family":"Smahi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Giuseppina","family":"Miano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matilde Valeria","family":"Ursini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2011,11,25]]},"reference":[{"key":"key\n\t\t\t\t20170522174336_DDR556C1","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1136\/jmg.30.1.53","article-title":"Incontinentia Pigmenti (Bloch\u2013Sulzberger syndrome)","volume":"30","author":"Landy","year":"1993","journal-title":"J. Med. Genet."},{"key":"key\n\t\t\t\t20170522174336_DDR556C2","first-page":"1993","article-title":"Incontinentia Pigmenti","volume-title":"GeneReviews","author":"Scheuerle","year":"2010"},{"key":"key\n\t\t\t\t20170522174336_DDR556C3","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1002\/humu.20739","article-title":"Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations","volume":"29","author":"Fusco","year":"2008","journal-title":"Hum. Mutat."},{"key":"key\n\t\t\t\t20170522174336_DDR556C4","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1016\/S0092-8674(00)81466-X","article-title":"Complementation cloning of NEMO, a component of the IkappaB kinase complex essential for NF-kappaB activation","volume":"93","author":"Yamaoka","year":"1998","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170522174336_DDR556C5","doi-asserted-by":"crossref","first-page":"2195","DOI":"10.1101\/gad.1228704","article-title":"Signaling to NF-kappaB","volume":"18","author":"Hayden","year":"2004","journal-title":"Genes Dev."},{"key":"key\n\t\t\t\t20170522174336_DDR556C6","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1016\/S1097-2765(00)80263-4","article-title":"NEMO\/IKK gamma-deficient mice model Incontinentia Pigmenti","volume":"5","author":"Schmidt-Supprian","year":"2000","journal-title":"Mol. Cell."},{"key":"key\n\t\t\t\t20170522174336_DDR556C7","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1016\/S1097-2765(00)80262-2","article-title":"Female mice heterozygous for IKK gamma\/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder Incontinentia Pigmenti","volume":"5","author":"Makris","year":"2000","journal-title":"Mol. Cell."},{"key":"key\n\t\t\t\t20170522174336_DDR556C8","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1016\/j.gde.2006.04.013","article-title":"NEMO, NFkappaB signaling and Incontinentia Pigmenti","volume":"16","author":"Nelson","year":"2006","journal-title":"Curr. Opin. Genet. Dev."},{"key":"key\n\t\t\t\t20170522174336_DDR556C9","doi-asserted-by":"crossref","first-page":"1763","DOI":"10.1093\/hmg\/ddh192","article-title":"Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation","volume":"13","author":"Fusco","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522174336_DDR556C10","doi-asserted-by":"crossref","first-page":"3138","DOI":"10.1093\/hmg\/ddq222","article-title":"Identification of a new NEMO\/TRAF6 interface affected in Incontinentia Pigmenti pathology","volume":"19","author":"Gautheron","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522174336_DDR556C11","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/S0014-5793(98)01259-9","article-title":"Molecular anatomy of the human glucose 6-phosphate dehydrogenase core promoter","volume":"437","author":"Franze","year":"1998","journal-title":"FEBS Lett."},{"key":"key\n\t\t\t\t20170522174336_DDR556C12","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/S0378-1119(01)00492-9","article-title":"Human\u2013mouse comparative sequence analysis of the NEMO gene reveals an alternative promoter within the neighboring G6PD gene","volume":"271","author":"Galgoczy","year":"2001","journal-title":"Gene"},{"key":"key\n\t\t\t\t20170522174336_DDR556C13","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.gene.2006.07.022","article-title":"Multiple regulatory regions and tissue-specific transcription initiation mediate the expression of NEMO\/IKKgamma gene","volume":"383","author":"Fusco","year":"2006","journal-title":"Gene"},{"key":"key\n\t\t\t\t20170522174336_DDR556C14","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1002\/bies.950180806","article-title":"A new lease of life for an old enzyme","volume":"18","author":"Martini","year":"1996","journal-title":"Bioessays"},{"key":"key\n\t\t\t\t20170522174336_DDR556C15","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1002\/humu.1380020302","article-title":"Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene","volume":"2","author":"Vulliamy","year":"1993","journal-title":"Hum. Mutat."},{"key":"key\n\t\t\t\t20170522174336_DDR556C16","first-page":"1303","article-title":"Glucose 6-phosphate dehydrogenase deficiency: from genotype to phenotype","volume":"91","author":"Luzzatto","year":"2006","journal-title":"Haematologica"},{"key":"key\n\t\t\t\t20170522174336_DDR556C17","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/S0140-6736(08)60073-2","article-title":"Glucose-6-phosphate dehydrogenase deficiency","volume":"371","author":"Cappellini","year":"2008","journal-title":"Lancet"},{"key":"key\n\t\t\t\t20170522174336_DDR556C18","doi-asserted-by":"crossref","first-page":"2557","DOI":"10.1093\/hmg\/10.22.2557","article-title":"Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes","volume":"10","author":"Aradhya","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522174336_DDR556C19","doi-asserted-by":"crossref","first-page":"1284","DOI":"10.1002\/humu.21069","article-title":"Microdeletion\/duplication at the Xq28 IP locus causes a de novo IKBKG\/NEMO\/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti","volume":"30","author":"Fusco","year":"2009","journal-title":"Hum. Mutat."},{"key":"key\n\t\t\t\t20170522174336_DDR556C20","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1016\/j.ajhg.2009.10.019","article-title":"Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination","volume":"85","author":"Vandewalle","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522174336_DDR556C21","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1016\/j.ajhg.2009.12.019","article-title":"The LCR at the IKBKG locus is prone to recombine","volume":"86","author":"Fusco","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522174336_DDR556C22","doi-asserted-by":"crossref","first-page":"3579","DOI":"10.1093\/hmg\/ddp306","article-title":"Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture","volume":"18","author":"Vissers","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522174336_DDR556C23","doi-asserted-by":"crossref","first-page":"R215","DOI":"10.1093\/hmg\/ddi268","article-title":"Identification of disease genes by whole genome CGH arrays","volume":"14","author":"Vissers","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522174336_DDR556C24","doi-asserted-by":"crossref","first-page":"R57","DOI":"10.1093\/hmg\/ddh073","article-title":"Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease","volume":"13","author":"Shaw","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522174336_DDR556C25","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1038\/nrg1689","article-title":"Repeat instability: mechanisms of dynamic mutations","volume":"6","author":"Pearson","year":"2005","journal-title":"Nat. Rev. Genet."},{"key":"key\n\t\t\t\t20170522174336_DDR556C26","doi-asserted-by":"crossref","first-page":"4208","DOI":"10.2741\/2381","article-title":"Hairpin- and cruciform-mediated chromosome breakage: causes and consequences in eukaryotic cells","volume":"12","author":"Lobachev","year":"2007","journal-title":"Front. Biosci."},{"key":"key\n\t\t\t\t20170522174336_DDR556C27","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/j.tibs.2007.04.003","article-title":"Non-B DNA conformations, mutagenesis and disease","volume":"32","author":"Wells","year":"2007","journal-title":"Trends Biochem. Sci."},{"key":"key\n\t\t\t\t20170522174336_DDR556C28","doi-asserted-by":"crossref","first-page":"11845","DOI":"10.1073\/pnas.0804529105","article-title":"Double-strand breaks associated with repetitive DNA can reshape the genome","volume":"105","author":"Argueso","year":"2008","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522174336_DDR556C29","doi-asserted-by":"crossref","first-page":"9936","DOI":"10.1073\/pnas.0804510105","article-title":"Replication stalling at unstable inverted repeats: interplay between DNA hairpins and fork stabilizing proteins","volume":"105","author":"Voineagu","year":"2008","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522174336_DDR556C30","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1016\/j.ajhg.2010.05.001","article-title":"Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability","volume":"86","author":"Zhang","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522174336_DDR556C31","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1093\/nar\/27.2.573","article-title":"Tandem repeats finder: a program to analyze DNA sequences","volume":"27","author":"Benson","year":"1999","journal-title":"Nucleic Acids Res."},{"key":"key\n\t\t\t\t20170522174336_DDR556C32","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1038\/nrg2193","article-title":"Gene conversion: mechanisms, evolution and human disease","volume":"8","author":"Chen","year":"2007","journal-title":"Nat. Rev. Genet."},{"key":"key\n\t\t\t\t20170522174336_DDR556C33","first-page":"1279","article-title":"Gene conversion is strongly induced in human cells by double-strand breaks and is modulated by the expression of BCL-x(L)","volume":"62","author":"Wiese","year":"2002","journal-title":"Cancer Res."},{"key":"key\n\t\t\t\t20170522174336_DDR556C34","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1095\/biolreprod.107.064162","article-title":"DNA damage response during chromatin remodeling in elongating spermatids of mice","volume":"78","author":"Leduc","year":"2008","journal-title":"Biol. Reprod."},{"key":"key\n\t\t\t\t20170522174336_DDR556C35","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1002\/cbf.1375","article-title":"Homologous recombination-mediated double-strand break repair in mouse testicular extracts and comparison with different germ cell stages","volume":"25","author":"Srivastava","year":"2007","journal-title":"Cell Biochem. Funct."},{"key":"key\n\t\t\t\t20170522174336_DDR556C36","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1038\/35057062","article-title":"Initial sequencing and analysis of the human genome","volume":"409","author":"Lander","year":"2001","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170522174336_DDR556C37","doi-asserted-by":"crossref","first-page":"47411","DOI":"10.1074\/jbc.R400028200","article-title":"Non-B DNA conformations, genomic rearrangements, and human disease","volume":"279","author":"Bacolla","year":"2004","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522174336_DDR556C38","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1007\/s10048-006-0030-8","article-title":"Identification of Alu elements mediating a partial PMP22 deletion","volume":"7","author":"Matejas","year":"2006","journal-title":"Neurogenetics"},{"key":"key\n\t\t\t\t20170522174336_DDR556C39","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.canlet.2006.06.002","article-title":"Genomic rearrangements in MSH2, MLH1 or MSH6 are rare in HNPCC patients carrying point mutations","volume":"248","author":"Pistorius","year":"2007","journal-title":"Cancer Lett."},{"key":"key\n\t\t\t\t20170522174336_DDR556C40","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1002\/gcc.10111","article-title":"The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors","volume":"35","author":"Kolomietz","year":"2002","journal-title":"Genes Chromosomes Cancer"},{"key":"key\n\t\t\t\t20170522174336_DDR556C41","doi-asserted-by":"crossref","first-page":"966","DOI":"10.1086\/498048","article-title":"Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination","volume":"77","author":"Woodward","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522174336_DDR556C42","doi-asserted-by":"crossref","first-page":"2250","DOI":"10.1093\/hmg\/ddl150","article-title":"Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease","volume":"15","author":"Lee","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522174336_DDR556C43","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1086\/512864","article-title":"Characterization of Potocki\u2013Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype","volume":"80","author":"Potocki","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522174336_DDR556C44","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1016\/j.cell.2007.11.037","article-title":"A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders","volume":"131","author":"Lee","year":"2007","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170522174336_DDR556C45","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1159\/000204709","article-title":"Marked decline of favism after neonatal glucose-6-phosphate dehydrogenase screening and health education: the northern Sardinian experience","volume":"87","author":"Meloni","year":"1992","journal-title":"Acta Haematol."},{"key":"key\n\t\t\t\t20170522174336_DDR556C46","first-page":"887","article-title":"Somatic-cell selection is a major determinant of the blood-cell phenotype in heterozygotes for glucose-6-phosphate dehydrogenase mutations causing severe enzyme deficiency","volume":"59","author":"Filosa","year":"1996","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522174336_DDR556C47","doi-asserted-by":"crossref","first-page":"4229","DOI":"10.1093\/emboj\/cdf426","article-title":"Maternally transmitted severe glucose 6-phosphate dehydrogenase deficiency is an embryonic lethal","volume":"21","author":"Longo","year":"2002","journal-title":"EMBO J."},{"key":"key\n\t\t\t\t20170522174336_DDR556C48","doi-asserted-by":"crossref","first-page":"1777","DOI":"10.1093\/hmg\/5.11.1777","article-title":"Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2","volume":"5","author":"Parrish","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522174336_DDR556C49","first-page":"1089","article-title":"Expression of the MAGE-A4 and NY-ESO-1 cancer-testis antigens and T cell infiltration in non-small cell lung carcinoma and their prognostic significance","volume":"28","author":"Yoshida","year":"2006","journal-title":"Int. J. Oncol."},{"key":"key\n\t\t\t\t20170522174336_DDR556C50","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1093\/hmg\/ddi470","article-title":"Skin lesion development in a mouse model of Incontinentia Pigmenti is triggered by NEMO deficiency in epidermal keratinocytes and requires TNF signaling","volume":"15","author":"Nenci","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522174336_DDR556C51","doi-asserted-by":"crossref","first-page":"1153","DOI":"10.1016\/j.bcp.2006.08.006","article-title":"NF-kappaB and inflammation in genetic disease","volume":"72","author":"Sebban","year":"2006","journal-title":"Biochem. Pharmacol."},{"key":"key\n\t\t\t\t20170522174336_DDR556C52","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/S0168-9525(98)01555-8","article-title":"Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits","volume":"14","author":"Lupski","year":"1998","journal-title":"Trends Genet."},{"key":"key\n\t\t\t\t20170522174336_DDR556C53","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1002\/humu.10150","article-title":"Two cases of misinterpretation of molecular results in Incontinentia Pigmenti, and a PCR-based method to discriminate NEMO\/IKKgamma gene deletion","volume":"21","author":"Bardaro","year":"2003","journal-title":"Hum. Mutat."},{"key":"key\n\t\t\t\t20170522174336_DDR556C54","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1093\/humrep\/dei356","article-title":"Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2-q28 associated with ovarian dysfunction","volume":"21","author":"Fimiani","year":"2006","journal-title":"Hum. Reprod."},{"key":"key\n\t\t\t\t20170522174336_DDR556C55","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1097\/00007890-199909270-00021","article-title":"The control of epidermal stem cells (holoclones) in the treatment of massive full-thickness burns with autologous keratinocytes cultured on fibrin","volume":"68","author":"Pellegrini","year":"1999","journal-title":"Transplantation"},{"key":"key\n\t\t\t\t20170522174336_DDR556C56","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1083\/jcb.126.2.495","article-title":"Association of basonuclin with ability of keratinocytes to multiply and with absence of terminal differentiation","volume":"126","author":"Tseng","year":"1994","journal-title":"J. Cell. Biol."},{"key":"key\n\t\t\t\t20170522174336_DDR556C57","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1007\/BF01002747","article-title":"Elutriation of human keratinocytes and melanocytes from in vitro cultured epithelium","volume":"20","author":"D'Anna","year":"1988","journal-title":"Hystochem. J."},{"key":"key\n\t\t\t\t20170522174336_DDR556C58","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1002\/path.1231","article-title":"Differential expression of p63 isoforms in normal tissues and neoplastic cells","volume":"198","author":"Nylander","year":"2002","journal-title":"J. Pathol."},{"key":"key\n\t\t\t\t20170522174336_DDR556C59","doi-asserted-by":"crossref","first-page":"1553","DOI":"10.1242\/dev.02325","article-title":"p63 regulates multiple signalling pathways required for ectodermal organogenesis and differentiation","volume":"133","author":"Laurikkala","year":"2006","journal-title":"Development"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/21\/6\/1260\/17258051\/ddr556.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,8,23]],"date-time":"2017-08-23T04:16:29Z","timestamp":1503461789000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddr556"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,11,25]]},"references-count":59,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2011,11,25]]},"published-print":{"date-parts":[[2012,3,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddr556","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published":{"date-parts":[[2011,11,25]]}}}