{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T20:11:36Z","timestamp":1790626296024,"version":"4.1.0"},"reference-count":30,"publisher":"Public Library of Science (PLoS)","issue":"12","license":[{"start":{"date-parts":[[2013,12,4]],"date-time":"2013-12-04T00:00:00Z","timestamp":1386115200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0081625","type":"journal-article","created":{"date-parts":[[2013,12,5]],"date-time":"2013-12-05T00:58:33Z","timestamp":1386205113000},"page":"e81625","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":21,"title":["A Nonsense Mutation in the IKBKG Gene in Mares with Incontinentia Pigmenti"],"prefix":"10.1371","volume":"8","author":[{"given":"Rachel E.","family":"Towers","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonardo","family":"Murgiano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David S.","family":"Millar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elise","family":"Glen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Topf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vidhya","family":"Jagannathan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cord","family":"Dr\u00f6gem\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith A.","family":"Goodship","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angus J.","family":"Clarke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tosso","family":"Leeb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2013,12,4]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1016\/j.ad.2012.07.012","article-title":"Ectodermal dysplasias: A clinical and molecular review","volume":"104","author":"P Garc\u00eda-Mart\u00edn","year":"2013","journal-title":"Actas Dermosifiliogr"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"2003","DOI":"10.1002\/ajmg.a.32804","article-title":"Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanism","volume":"149A","author":"M Priolo","year":"2009","journal-title":"Am J Med Genet A"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"2062","DOI":"10.1002\/ajmg.a.32869","article-title":"Classifying ectodermal dysplasias: Incorporating the molecular basis and pathways (Workshop II)","volume":"149A","author":"JT Wright","year":"2009","journal-title":"Am J Med Genet A"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"1699","DOI":"10.1101\/gr.182501","article-title":"Partial deletion of the bovine ED1 gene causes anhidrotic ectodermal dysplasia in cattle","volume":"11","author":"C Dr\u00f6gem\u00fcller","year":"2001","journal-title":"Genome Res"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1007\/s00109-002-0320-z","article-title":"A single point mutation within the ED1 gene disrupts correct splicing at two different splice sites and leads to anhidrotic ectodermal dysplasia in cattle","volume":"80","author":"C Dr\u00f6gem\u00fcller","year":"2002","journal-title":"J Mol Med"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1046\/j.1365-3164.2002.00313.x","article-title":"Congenital hypotrichosis with anodontia in cattle: a genetic, clinical and histological analysis","volume":"13","author":"C Dr\u00f6gem\u00fcller","year":"2002","journal-title":"Vet Dermatol"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1016\/j.jcpa.2004.11.001","article-title":"Ectodysplasin-1 deficiency in a German Holstein bull associated with loss of respiratory mucous glands and chronic rhinotracheitis","volume":"132","author":"F Seeliger","year":"2005","journal-title":"J Comp Pathol"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1007\/s00335-004-2463-4","article-title":"Mutation identification in a canine model of X-linked ectodermal dysplasia","volume":"16","author":"ML Casal","year":"2005","journal-title":"Mamm Genome"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"1462","DOI":"10.1126\/science.1162525","article-title":"A mutation in hairless dogs implicates FOXI3 in ectodermal development","volume":"321","author":"C Dr\u00f6gem\u00fcller","year":"2008","journal-title":"Science"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"e32072","DOI":"10.1371\/journal.pone.0032072","article-title":"Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs","volume":"7","author":"T Olivry","year":"2012","journal-title":"PLoS One"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"2031","DOI":"10.1002\/ajmg.a.32855","article-title":"Molecular aspects of hypohidrotic ectodermal dysplasia","volume":"149A","author":"ML Mikkola","year":"2009","journal-title":"Am J Med Genet A"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1002\/humu.21384","article-title":"Only four genes (EDA1, EDAR, EDARADD and WNTA10A) account for 90% of hypohidrotic\/anhidrotic ectodermal dysplasia cases","volume":"32","author":"C Cluzeau","year":"2011","journal-title":"Hum Mutat"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"re13","DOI":"10.1126\/stke.3572006re13","article-title":"Regulation and function of IKK and IKK related kinases","volume":"2006","author":"H H\u00e4cker","year":"2006","journal-title":"Sci STKE"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"1555","DOI":"10.1086\/316914","article-title":"A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)","volume":"67","author":"J Zonana","year":"2000","journal-title":"Am J Hum Genet"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"1456","DOI":"10.1016\/j.jaci.2004.08.047","article-title":"Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia","volume":"114","author":"T Niehues","year":"2004","journal-title":"J Allergy Clin Immunol"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1038\/35013114","article-title":"Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti","volume":"405","author":"A Smahi","year":"2000","journal-title":"Nature"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"2171","DOI":"10.1093\/hmg\/10.19.2171","article-title":"A recurrent deletion in the ubiquitously expressed NEMO (IKK-\u03b3) gene accounts for the vast majority of incontinentia pigmenti mutations","volume":"10","author":"S Aradhya","year":"2001","journal-title":"Hum Mol Genet"},{"key":"ref18","first-page":"355","article-title":"Incontinentia pigmenti (Bloch-Sulzberger syndrome): a systemic disorder","volume":"79","author":"M Ehrenreich","year":"2007","journal-title":"Cutis"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1067\/mjd.2002.125949","article-title":"Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology","volume":"47","author":"AL Berlin","year":"2002","journal-title":"J Am Acad Dermatol"},{"key":"ref20","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":"C Makris","year":"2000","journal-title":"Mol Cell"},{"key":"ref21","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":"M Schmidt-Supprian","year":"2000","journal-title":"Mol Cell"},{"key":"ref22","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":"F Fusco","year":"2004","journal-title":"Hum Mol Genet"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1002\/humu.20739","article-title":"Alterations of the <italic>IKBKG<\/italic> locus and diseases: an update and a report of 13 novel mutations","volume":"29","author":"F Fusco","year":"2008","journal-title":"Hum Mutat"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1111\/j.1399-0004.2009.01232.x","article-title":"Pseudogene-derived <italic>IKBKG<\/italic> gene mutations in incontinentia pigmenti","volume":"76","author":"NC Lee","year":"2009","journal-title":"Clin Genet"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1111\/j.1651-2227.2010.01921.x","article-title":"Incontinentia pigmenti revisited. A novel nonsense mutation of the <italic>IKBKG<\/italic> gene","volume":"100","author":"H Fryssira","year":"2011","journal-title":"Acta Paediatr"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"1260","DOI":"10.1093\/hmg\/ddr556","article-title":"Genomic architecture at the Incontinentia Pigmenti locus favours <italic>de novo<\/italic> pathological alleles through different mechanisms","volume":"21","author":"F Fusco","year":"2012","journal-title":"Hum Mol Genet"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1086\/301965","article-title":"Neighbouring\u00adnucleotide effects on the rates of germ\u00adline single\u00adbase\u00adpair substitution in human genes","volume":"63","author":"M Krawczak","year":"1998","journal-title":"Am J Hum Gen"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"H Li","year":"2009","journal-title":"Bioinformatics"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"A McKenna","year":"2010","journal-title":"Genome Res"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"80","DOI":"10.4161\/fly.19695","article-title":"A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3","volume":"6","author":"P Cingolani","year":"2012","journal-title":"Fly"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0081625","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,10,23]],"date-time":"2018-10-23T23:52:34Z","timestamp":1540338754000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0081625"}},"subtitle":[],"editor":[{"given":"Roberto","family":"Mantovani","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2013,12,4]]},"references-count":30,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2013,12,4]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0081625","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12,4]]}}}