{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T00:22:44Z","timestamp":1793146964180,"version":"4.5.0"},"reference-count":39,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2010,8,1]],"date-time":"2010-08-01T00:00:00Z","timestamp":1280620800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":1083,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2010,8]]},"DOI":"10.1016\/j.ajhg.2010.07.005","type":"journal-article","created":{"date-parts":[[2010,8,6]],"date-time":"2010-08-06T04:49:24Z","timestamp":1281070164000},"page":"274-281","source":"Crossref","is-referenced-by-count":216,"title":["Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease"],"prefix":"10.1016","volume":"87","author":[{"given":"Vinzenz","family":"Oji","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja-Martina","family":"Eckl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Aufenvenne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"N\u00e4tebus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatjana","family":"Tarinski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina","family":"Ackermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia","family":"Seller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dieter","family":"Metze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gudrun","family":"N\u00fcrnberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Regina","family":"F\u00f6lster-Holst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Sch\u00e4fer-Korting","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid","family":"Hausser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heiko","family":"Traupe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans Christian","family":"Hennies","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2010.07.005_bib1","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/ng1743","article-title":"Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris","volume":"38","author":"Smith","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2010.07.005_bib2","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1038\/ng1767","article-title":"Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis","volume":"38","author":"Palmer","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2010.07.005_bib3","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1038\/ng.358","article-title":"A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming","volume":"41","author":"Fallon","year":"2009","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2010.07.005_bib4","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1016\/S0190-9622(82)70140-9","article-title":"The peeling skin syndrome","volume":"7","author":"Levy","year":"1982","journal-title":"J. Am. Acad. Dermatol."},{"key":"10.1016\/j.ajhg.2010.07.005_bib5","series-title":"The Ichthyoses. A Guide to Clinical Diagnosis, Genetic Counseling, and Therapy","author":"Traupe","year":"1989"},{"key":"10.1016\/j.ajhg.2010.07.005_bib6","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/S0190-9622(08)81903-2","article-title":"Peeling skin syndrome","volume":"30","author":"Aras","year":"1994","journal-title":"J. Am. Acad. Dermatol."},{"key":"10.1016\/j.ajhg.2010.07.005_bib7","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1016\/S0190-9622(85)80339-X","article-title":"Peeling skin syndrome","volume":"13","author":"Dicken","year":"1985","journal-title":"J. Am. Acad. Dermatol."},{"key":"10.1016\/j.ajhg.2010.07.005_bib8","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1001\/archderm.1985.01660040129027","article-title":"Skin peeling syndrome in a Kurdish family","volume":"121","author":"Hacham-Zadeh","year":"1985","journal-title":"Arch. Dermatol."},{"key":"10.1016\/j.ajhg.2010.07.005_bib9","doi-asserted-by":"crossref","first-page":"2338","DOI":"10.1038\/sj.jid.5700379","article-title":"Elevated human tissue kallikrein levels in the stratum corneum and serum of peeling skin syndrome-type B patients suggests an over-desquamation of corneocytes","volume":"126","author":"Komatsu","year":"2006","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.ajhg.2010.07.005_bib10","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1111\/j.1365-2133.1987.tb05799.x","article-title":"Peeling skin syndrome: A clinical, ultrastructural and biochemical study","volume":"116","author":"Mevorah","year":"1987","journal-title":"Br. J. Dermatol."},{"key":"10.1016\/j.ajhg.2010.07.005_bib11","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1016\/S0190-9622(07)80013-2","article-title":"Ichthyosiform dermatosis with superficial blister formation and peeling: Evidence for a desmosomal anomaly and altered epidermal vitamin A\u00a0metabolism","volume":"34","author":"Mevorah","year":"1996","journal-title":"J. Am. Acad. Dermatol."},{"key":"10.1016\/j.ajhg.2010.07.005_bib12","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1111\/j.1346-8138.2006.00102.x","article-title":"A\u00a0case of peeling skin syndrome successfully treated with topical calcipotriol","volume":"33","author":"Mizuno","year":"2006","journal-title":"J. Dermatol."},{"key":"10.1016\/j.ajhg.2010.07.005_bib13","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1111\/j.1525-1470.2006.00290.x","article-title":"Inflammatory peeling skin syndrome studied with electron microscopy","volume":"23","author":"Tsai","year":"2006","journal-title":"Pediatr. Dermatol."},{"key":"10.1016\/j.ajhg.2010.07.005_bib14","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1001\/archderm.1924.02360280081013","article-title":"Familial study of three unusual cases of congenital ichthyosiform erythrodermia","volume":"10","author":"Wile","year":"1924","journal-title":"Arch. Dermatol. Syph."},{"key":"10.1016\/j.ajhg.2010.07.005_bib15","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1038\/75977","article-title":"Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome","volume":"25","author":"Chavanas","year":"2000","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2010.07.005_bib16","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1111\/j.1525-1470.1996.tb01202.x","article-title":"Severe congenital generalized exfoliative erythroderma in newborns and infants: A possible sign of Netherton syndrome","volume":"13","author":"Hausser","year":"1996","journal-title":"Pediatr. Dermatol."},{"key":"10.1016\/j.ajhg.2010.07.005_bib17","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1086\/497707","article-title":"A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome","volume":"77","author":"Cassidy","year":"2005","journal-title":"Am. J.\u00a0Hum. Genet."},{"key":"10.1016\/j.ajhg.2010.07.005_bib18","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1111\/j.1365-2133.1969.tb16005.x","article-title":"Familial continual skin peeling","volume":"81","author":"Kurban","year":"1969","journal-title":"Br. J. Dermatol."},{"key":"10.1016\/j.ajhg.2010.07.005_bib19","doi-asserted-by":"crossref","first-page":"742","DOI":"10.1093\/bioinformatics\/17.8.742","article-title":"GRR: Graphical representation of relationship errors","volume":"17","author":"Abecasis","year":"2001","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2010.07.005_bib20","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1038\/ng1005-1015","article-title":"Allegro version 2","volume":"37","author":"Gudbjartsson","year":"2005","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2010.07.005_bib21","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/ng786","article-title":"Merlin\u2014rapid analysis of dense genetic maps using sparse gene flow trees","volume":"30","author":"Abecasis","year":"2002","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2010.07.005_bib22","doi-asserted-by":"crossref","first-page":"2123","DOI":"10.1093\/bioinformatics\/bti264","article-title":"ALOHOMORA: A\u00a0tool for linkage analysis using 10K SNP array data","volume":"21","author":"R\u00fcschendorf","year":"2005","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2010.07.005_bib23","series-title":"Keratinocyte Methods","author":"Leigh","year":"1994"},{"key":"10.1016\/j.ajhg.2010.07.005_bib24","doi-asserted-by":"crossref","first-page":"7802","DOI":"10.1073\/pnas.81.24.7802","article-title":"Polycyclic aromatic hydrocarbon mutagenesis of human epidermal keratinocytes in culture","volume":"81","author":"Allen-Hoffmann","year":"1984","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2010.07.005_bib25","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1177\/026119290803600207","article-title":"The use of reconstructed human epidermis for skin absorption testing: Results of the validation study","volume":"36","author":"Sch\u00e4fer-Korting","year":"2008","journal-title":"Altern. Lab. Anim."},{"key":"10.1016\/j.ajhg.2010.07.005_bib26","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1159\/000265681","article-title":"The Phenion full-thickness skin model for percutaneous absorption testing","volume":"23","author":"Ackermann","year":"2010","journal-title":"Skin Pharmacol. Physiol."},{"key":"10.1016\/j.ajhg.2010.07.005_bib27","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1177\/026119290603400312","article-title":"Reconstructed human epidermis for skin absorption testing: Results of the German prevalidation study","volume":"34","author":"Sch\u00e4fer-Korting","year":"2006","journal-title":"Altern. Lab. Anim."},{"key":"10.1016\/j.ajhg.2010.07.005_bib28","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/S0887-2333(02)00003-6","article-title":"Quantitative structure-permeability relationships (QSPRs) for percutaneous absorption","volume":"16","author":"Moss","year":"2002","journal-title":"Toxicol. In Vitro"},{"key":"10.1016\/j.ajhg.2010.07.005_bib29","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1007\/BF00371795","article-title":"Evidence for a role of corneodesmosin, a protein which may serve to modify desmosomes during cornification, in stratum corneum cell cohesion and desquamation","volume":"286","author":"Lundstr\u00f6m","year":"1994","journal-title":"Arch. Dermatol. Res."},{"key":"10.1016\/j.ajhg.2010.07.005_bib30","doi-asserted-by":"crossref","first-page":"20292","DOI":"10.1074\/jbc.M100201200","article-title":"Refined characterization of corneodesmosin proteolysis during terminal differentiation of human epidermis and its relationship to desquamation","volume":"276","author":"Simon","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2010.07.005_bib31","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1111\/j.0022-202X.2004.22512.x","article-title":"Degradation of corneodesmosome proteins by two serine proteases of the kallikrein family, SCTE\/KLK5\/hK5 and SCCE\/KLK7\/hK7","volume":"122","author":"Caubet","year":"2004","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.ajhg.2010.07.005_bib32","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1038\/ng1163","article-title":"Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin","volume":"34","author":"Levy-Nissenbaum","year":"2003","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2010.07.005_bib33","doi-asserted-by":"crossref","first-page":"1216","DOI":"10.1111\/j.1365-2133.2005.06958.x","article-title":"A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp","volume":"153","author":"D\u00e1valos","year":"2005","journal-title":"Br. J. Dermatol."},{"key":"10.1016\/j.ajhg.2010.07.005_bib34","doi-asserted-by":"crossref","first-page":"6720","DOI":"10.1073\/pnas.0709345105","article-title":"Targeted deletion of the murine corneodesmosin gene delineates its essential role in skin and hair physiology","volume":"105","author":"Matsumoto","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2010.07.005_bib35","doi-asserted-by":"crossref","first-page":"2699","DOI":"10.1242\/jcs.050302","article-title":"Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction","volume":"122","author":"Leclerc","year":"2009","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.ajhg.2010.07.005_bib36","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/j.jpeds.2004.03.052","article-title":"Pathophysiologic basis for growth failure in children with ichthyosis: An evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure","volume":"145","author":"Moskowitz","year":"2004","journal-title":"J.\u00a0Pediatr."},{"key":"10.1016\/j.ajhg.2010.07.005_bib37","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1038\/ng2020","article-title":"Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema","volume":"39","author":"Sandilands","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2010.07.005_bib38","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1016\/j.jaci.2006.05.004","article-title":"Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations","volume":"118","author":"Weidinger","year":"2006","journal-title":"J. Allergy Clin. Immunol."},{"key":"10.1016\/j.ajhg.2010.07.005_bib39","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1016\/j.jaci.2006.07.026","article-title":"Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march","volume":"118","author":"Marenholz","year":"2006","journal-title":"J. Allergy Clin. Immunol."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929710003617?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929710003617?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,6,9]],"date-time":"2020-06-09T22:43:21Z","timestamp":1591742601000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929710003617"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,8]]},"references-count":39,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2010,8]]}},"alternative-id":["S0002929710003617"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2010.07.005","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.4778956.4679054","asserted-by":"object"}]},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2010,8]]}}}