{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T18:41:35Z","timestamp":1793126495431,"version":"4.5.0"},"reference-count":49,"publisher":"Public Library of Science (PLoS)","issue":"2","license":[{"start":{"date-parts":[[2014,2,13]],"date-time":"2014-02-13T00:00:00Z","timestamp":1392249600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosgenetics.org"],"crossmark-restriction":false},"short-container-title":["PLoS Genet"],"DOI":"10.1371\/journal.pgen.1004068","type":"journal-article","created":{"date-parts":[[2014,2,13]],"date-time":"2014-02-13T16:50:30Z","timestamp":1392310230000},"page":"e1004068","update-policy":"https:\/\/doi.org\/10.1371\/journal.pgen.corrections_policy","source":"Crossref","is-referenced-by-count":32,"title":["Molecular Identification of Collagen 17a1 as a Major Genetic Modifier of Laminin Gamma 2 Mutation-Induced Junctional Epidermolysis Bullosa in Mice"],"prefix":"10.1371","volume":"10","author":[{"given":"Thomas J.","family":"Sproule","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason A.","family":"Bubier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiorella C.","family":"Grandi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor Z.","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivek M.","family":"Philip","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline G.","family":"McPhee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth B.","family":"Adkins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John P.","family":"Sundberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Derry C.","family":"Roopenian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2014,2,13]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1186\/1750-1172-5-12","article-title":"Inherited epidermolysis bullosa","volume":"5","author":"JD Fine","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1111\/j.1346-8138.2009.00800.x","article-title":"Overview of epidermolysis bullosa","volume":"37","author":"D Sawamura","year":"2010","journal-title":"J Dermatol"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"1778","DOI":"10.1038\/jid.2010.90","article-title":"Progress in epidermolysis bullosa research: toward treatment and cure","volume":"130","author":"J Uitto","year":"2010","journal-title":"J Invest Dermatol"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"E2","DOI":"10.1038\/skinbio.2012.2","article-title":"Molecular heterogeneity of blistering disorders: the paradigm of epidermolysis bullosa","volume":"132","author":"L Bruckner-Tuderman","year":"2012","journal-title":"J Invest Dermatol"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"2217","DOI":"10.1182\/blood-2004-04-1512","article-title":"CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin","volume":"104","author":"V Karamatic Crew","year":"2004","journal-title":"Blood"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1016\/j.jaad.2008.02.004","article-title":"The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB","volume":"58","author":"JD Fine","year":"2008","journal-title":"J Am Acad Dermatol"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1097\/00000372-200306000-00003","article-title":"A comparative study of immunohistochemistry and electron microscopy used in the diagnosis of epidermolysis bullosa","volume":"25","author":"D Petronius","year":"2003","journal-title":"Am J Dermatopathol"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1016\/S1357-4310(97)01112-X","article-title":"Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity","volume":"3","author":"J Uitto","year":"1997","journal-title":"Mol Med Today"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.det.2009.10.020","article-title":"Dystrophic epidermolysis bullosa: pathogenesis and clinical features","volume":"28","author":"L Bruckner-Tuderman","year":"2008","journal-title":"Dermatol Clin"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"3142","DOI":"10.1016\/j.yexcr.2006.06.030","article-title":"The Kindlins: subcellular localization and expression during murine development","volume":"312","author":"S Ussar","year":"2006","journal-title":"Exp Cell Res"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/S0945-053X(98)00004-3","article-title":"Laminins of the dermo-epidermal junction","volume":"18","author":"M Aumailley","year":"1999","journal-title":"Matrix Biol"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1016\/j.matbio.2005.05.006","article-title":"A simplified laminin nomenclature","volume":"24","author":"M Aumailley","year":"2005","journal-title":"Matrix Biol"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1136\/jmg.2010.086751","article-title":"Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa","volume":"48","author":"D Kiritsi","year":"2011","journal-title":"J Med Genet"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1136\/jmg.2005.039685","article-title":"Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants","volume":"43","author":"R Varki","year":"2006","journal-title":"J Med Genet"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"438","DOI":"10.2340\/00015555-0484","article-title":"Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature","volume":"88","author":"N Dang","year":"2008","journal-title":"Acta Derm Venereol"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1002\/humu.20647","article-title":"A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa","volume":"29","author":"M Titeux","year":"2008","journal-title":"Hum Mutat"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1016\/j.ejcb.2006.07.004","article-title":"Biological function of laminin-5 and pathogenic impact of its deficiency","volume":"86","author":"H Schneider","year":"2007","journal-title":"Eur J Cell Biol"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1007\/s00439-004-1210-y","article-title":"Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease","volume":"116","author":"C Muhle","year":"2005","journal-title":"Hum Genet"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1007\/s00439-001-0630-1","article-title":"Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes","volume":"110","author":"A Nakano","year":"2002","journal-title":"Hum Genet"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"1819","DOI":"10.1038\/jid.2010.46","article-title":"A mouse model of generalized non-Herlitz junctional epidermolysis bullosa","volume":"130","author":"JA Bubier","year":"2010","journal-title":"J Invest Dermatol"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1111\/j.1600-0625.2012.01482.x","article-title":"A direct method to determine the strength of the dermal-epidermal junction in a mouse model for epidermolysis bullosa","volume":"21","author":"TJ Sproule","year":"2012","journal-title":"Exp Dermatol"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"1699","DOI":"10.1534\/genetics.104.033993","article-title":"Combining data from multiple inbred line crosses improves the power and resolution of quantitative trait loci mapping","volume":"169","author":"R Li","year":"2005","journal-title":"Genetics"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1093\/bioinformatics\/btg112","article-title":"R\/qtl: QTL mapping in experimental crosses","volume":"19","author":"KW Broman","year":"2003","journal-title":"Bioinformatics"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1007\/s00335-006-0090-y","article-title":"R\/qtlDesign: inbred line cross experimental design","volume":"18","author":"S Sen","year":"2007","journal-title":"Mamm Genome"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1046\/j.1523-1747.2003.12515.x","article-title":"Targeted inactivation of murine laminin gamma2-chain gene recapitulates human junctional epidermolysis bullosa","volume":"121","author":"X Meng","year":"2003","journal-title":"J Invest Dermatol"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1046\/j.1365-2230.2003.01192.x","article-title":"Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy","volume":"28","author":"JW Bauer","year":"2003","journal-title":"Clin Exp Dermatol"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1046\/j.1523-1747.2000.00049.x","article-title":"Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain","volume":"115","author":"K Tasanen","year":"2000","journal-title":"J Invest Dermatol"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1111\/1523-1747.ep12276614","article-title":"A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa","volume":"109","author":"S Chavanas","year":"1997","journal-title":"J Invest Dermatol"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/S0945-053X(03)00051-9","article-title":"Collagenous transmembrane proteins: collagen XVII as a prototype","volume":"22","author":"CW Franzke","year":"2003","journal-title":"Matrix Biol"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1111\/1523-1747.ep12616580","article-title":"Cloning and primary structural analysis of the bullous pemphigoid autoantigen BP180","volume":"99","author":"GJ Giudice","year":"1992","journal-title":"J Invest Dermatol"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1006\/clin.1998.4519","article-title":"A new murine model for mammalian wound repair and regeneration","volume":"88","author":"LD Clark","year":"1998","journal-title":"Clin Immunol Immunopathol"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"R35","DOI":"10.1186\/gb-2013-14-4-r35","article-title":"DNA binding specificities of the long zinc-finger recombination protein PRDM9","volume":"14","author":"T Billings","year":"2013","journal-title":"Genome biology"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1126\/science.1181495","article-title":"Prdm9 controls activation of mammalian recombination hotspots","volume":"327","author":"ED Parvanov","year":"2010","journal-title":"Science"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1083\/jcb.138.3.719","article-title":"Laminin 5 binds the NC-1 domain of type VII collagen","volume":"138","author":"P Rousselle","year":"1997","journal-title":"J Cell Biol"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1046\/j.1523-1747.1999.00546.x","article-title":"Structure and function of hemidesmosomes: more than simple adhesion complexes","volume":"112","author":"L Borradori","year":"1999","journal-title":"J Invest Dermatol"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1111\/j.1600-0625.2008.00721.x","article-title":"Laminin-332 and -511 in skin","volume":"17","author":"K Sugawara","year":"2008","journal-title":"Exp Dermatol"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"13739","DOI":"10.1074\/jbc.271.23.13739","article-title":"Demonstration of the molecular shape of BP180, a 180-kDa bullous pemphigoid antigen and its potential for trimer formation","volume":"271","author":"Y Hirako","year":"1996","journal-title":"J Biol Chem"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"2027","DOI":"10.1016\/S0002-9440(10)63762-5","article-title":"Keratinocytes from patients lacking collagen XVII display a migratory phenotype","volume":"164","author":"K Tasanen","year":"2004","journal-title":"Am J Pathol"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1016\/j.ajpath.2011.04.019","article-title":"Dynamic interactions of epidermal collagen XVII with the extracellular matrix: laminin 332 as a major binding partner","volume":"179","author":"W Nishie","year":"2011","journal-title":"Am J Pathol"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/j.matbio.2010.10.005","article-title":"Type XVII collagen (BP180) can function as a cell-matrix adhesion molecule via binding to laminin 332","volume":"30","author":"F Van den Bergh","year":"2011","journal-title":"Matrix Biol"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"1280","DOI":"10.1111\/j.1365-2133.2011.10359.x","article-title":"Junctional epidermolysis bullosa of late onset explained by mutations in COL17A1","volume":"164","author":"WY Yuen","year":"2011","journal-title":"Br J Dermatol"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"1344","DOI":"10.1086\/515463","article-title":"Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa","volume":"60","author":"H Schumann","year":"1997","journal-title":"Am J Hum Genet"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1038\/sj.jid.5700024","article-title":"Protein structural analysis of BP180 mutant isoforms linked to non-Herlitz junctional epidermolysis bullosa","volume":"126","author":"CL Fu","year":"2006","journal-title":"J Invest Dermatol"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"1371","DOI":"10.1172\/JCI4338","article-title":"Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation","volume":"103","author":"TN Darling","year":"1999","journal-title":"J Clin Invest"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"1530","DOI":"10.1086\/302672","article-title":"Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes","volume":"65","author":"M Floeth","year":"1999","journal-title":"Am J Hum Genet"},{"key":"ref46","doi-asserted-by":"crossref","first-page":"1409","DOI":"10.1038\/jid.2011.466","article-title":"Identification of quantitative trait loci in experimental epidermolysis bullosa acquisita","volume":"132","author":"RJ Ludwig","year":"2012","journal-title":"J Invest Dermatol"},{"key":"ref47","doi-asserted-by":"crossref","first-page":"42899","DOI":"10.1074\/jbc.M303422200","article-title":"Pancreatic triglyceride lipase deficiency minimally affects dietary fat absorption but dramatically decreases dietary cholesterol absorption in mice","volume":"278","author":"KW Huggins","year":"2003","journal-title":"J Biol Chem"},{"key":"ref48","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1093\/genetics\/142.1.285","article-title":"Permutation tests for multiple loci affecting a quantitative character","volume":"142","author":"RW Doerge","year":"1996","journal-title":"Genetics"},{"key":"ref49","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1038\/ng1195-241","article-title":"Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results","volume":"11","author":"E Lander","year":"1995","journal-title":"Nature genetics"}],"container-title":["PLoS Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pgen.1004068","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,26]],"date-time":"2022-03-26T11:15:33Z","timestamp":1648293333000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pgen.1004068"}},"subtitle":[],"editor":[{"given":"Gregory S.","family":"Barsh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2014,2,13]]},"references-count":49,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2014,2,13]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pgen.1004068","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.718281635.793543200","asserted-by":"object"}]},"ISSN":["1553-7404"],"issn-type":[{"value":"1553-7404","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,2,13]]}}}