{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T23:10:50Z","timestamp":1779318650515,"version":"3.51.4"},"reference-count":40,"publisher":"Public Library of Science (PLoS)","issue":"4","license":[{"start":{"date-parts":[[2018,4,24]],"date-time":"2018-04-24T00:00:00Z","timestamp":1524528000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["RC1.3-2016"],"award-info":[{"award-number":["RC1.3-2016"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0195792","type":"journal-article","created":{"date-parts":[[2018,4,24]],"date-time":"2018-04-24T17:34:09Z","timestamp":1524591249000},"page":"e0195792","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":13,"title":["Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin"],"prefix":"10.1371","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7442-2252","authenticated-orcid":true,"given":"Alessandro","family":"Terrinoni","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Biagio","family":"Didona","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabrina","family":"Caporali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Chillemi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Lo Surdo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mauro","family":"Paradisi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4717-4740","authenticated-orcid":true,"given":"Margherita","family":"Annichiarico-Petruzzelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleonora","family":"Candi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergio","family":"Bernardini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9428-5972","authenticated-orcid":true,"given":"Gerry","family":"Melino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2018,4,24]]},"reference":[{"issue":"4","key":"ref1","first-page":"371","article-title":"The genetic basis of various types of ichthyosis in a family group","volume":"6","author":"HO Curth","year":"1954","journal-title":"Am J Hum Genet"},{"issue":"1","key":"ref2","first-page":"37","article-title":"Follow-up of a family group suffering from ichthyosis hystrix type Curth-Macklin","volume":"17","author":"H Ollendorff-Curth","year":"1972","journal-title":"Humangenetik"},{"issue":"1","key":"ref3","first-page":"77","article-title":"Ultrastructure of inborn errors of keratinization. II. Ichthyosis hystrix type Curth-Macklin","volume":"246","author":"I Anton-Lamprecht","year":"1973","journal-title":"Arch Dermatol Forsch"},{"issue":"3","key":"ref4","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1111\/j.1469-1809.1958.tb01421.x","article-title":"Reconsideration of the Lambert pedigree (ichthyosis hystrix gravior)","volume":"22","author":"LS Penrose","year":"1958","journal-title":"Ann Hum Genet"},{"issue":"4","key":"ref5","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/j.jaad.2009.11.020","article-title":"Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009","volume":"63","author":"V Oji","year":"2010","journal-title":"Journal of the American Academy of Dermatology"},{"issue":"4","key":"ref6","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1046\/j.1523-1747.2001.01292.x","article-title":"Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix","volume":"116","author":"E Sprecher","year":"2001","journal-title":"The Journal of investigative dermatology"},{"issue":"1","key":"ref7","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/sj.jid.5700025","article-title":"A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type","volume":"126","author":"ES Richardson","year":"2006","journal-title":"The Journal of investigative dermatology"},{"issue":"8","key":"ref8","first-page":"779","article-title":"Intermediate filament proteins","volume":"1","author":"R Quinlan","year":"1994","journal-title":"Protein Profile"},{"issue":"6","key":"ref9","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1111\/1523-1747.ep12475665","article-title":"Structure, function, and dynamics of keratin intermediate filaments","volume":"100","author":"PM Steinert","year":"1993","journal-title":"The Journal of investigative dermatology"},{"issue":"4","key":"ref10","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1083\/jcb.110.4.1199","article-title":"The coiled coil of in vitro assembled keratin filaments is a heterodimer of type I and II keratins: use of site-specific mutagenesis and recombinant protein expression","volume":"110","author":"M Hatzfeld","year":"1990","journal-title":"J Cell Biol"},{"issue":"1","key":"ref11","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1083\/jcb.111.1.153","article-title":"Elucidating the early stages of keratin filament assembly","volume":"111","author":"PA Coulombe","year":"1990","journal-title":"J Cell Biol"},{"issue":"5","key":"ref12","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1016\/j.jaad.2009.04.019","article-title":"Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation","volume":"64","author":"R Osawa","year":"2011","journal-title":"Journal of the American Academy of Dermatology"},{"issue":"5","key":"ref13","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1111\/jdv.13153","article-title":"Cutaneous mosaicism, in KRT1 pI479T patient, caused by the somatic loss of the wild-type allele, leads to the increase in local severity of the disease","volume":"30","author":"R Palombo","year":"2016","journal-title":"J Eur Acad Dermatol Venereol"},{"issue":"5073","key":"ref14","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1126\/science.257.5073.1128","article-title":"Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis","volume":"257","author":"JA Rothnagel","year":"1992","journal-title":"Science"},{"issue":"3","key":"ref15","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1046\/j.1523-1747.2003.12064.x","article-title":"In vivo studies of mutant keratin 1 in ichthyosis hystrix Curth-Macklin","volume":"120","author":"A Ishida-Yamamoto","year":"2003","journal-title":"The Journal of investigative dermatology"},{"issue":"6","key":"ref16","doi-asserted-by":"crossref","first-page":"1391","DOI":"10.1046\/j.0022-202x.2001.01565.x","article-title":"Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita","volume":"117","author":"A Terrinoni","year":"2001","journal-title":"The Journal of investigative dermatology"},{"issue":"6","key":"ref17","doi-asserted-by":"crossref","first-page":"1096","DOI":"10.1111\/j.1365-2133.2004.05967.x","article-title":"Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene","volume":"150","author":"A Terron-Kwiatkowski","year":"2004","journal-title":"The British journal of dermatology"},{"issue":"2","key":"ref18","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1046\/j.1365-2133.2001.04327.x","article-title":"New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens","volume":"145","author":"NV Whittock","year":"2001","journal-title":"The British journal of dermatology"},{"issue":"5","key":"ref19","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1046\/j.1523-1747.2003.12534.x","article-title":"Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis","volume":"121","author":"M Virtanen","year":"2003","journal-title":"The Journal of investigative dermatology"},{"issue":"6","key":"ref20","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1046\/j.1523-1747.2000.00983.x","article-title":"A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus","volume":"114","author":"A Terrinoni","year":"2000","journal-title":"The Journal of investigative dermatology"},{"issue":"5","key":"ref21","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1046\/j.1523-1747.2002.01750.x","article-title":"Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma","volume":"118","author":"NV Whittock","year":"2002","journal-title":"The Journal of investigative dermatology"},{"issue":"7","key":"ref22","doi-asserted-by":"crossref","first-page":"e0132706","DOI":"10.1371\/journal.pone.0132706","article-title":"Complete Structure of an Epithelial Keratin Dimer: Implications for Intermediate Filament Assembly","volume":"10","author":"DJ Bray","year":"2015","journal-title":"PLoS One"},{"issue":"2","key":"ref23","doi-asserted-by":"crossref","first-page":"F5","DOI":"10.1083\/jcb.151.2.F5","article-title":"The complexity and redundancy of epithelial barrier function","volume":"151","author":"PM Steinert","year":"2000","journal-title":"J Cell Biol"},{"issue":"1","key":"ref24","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/S0923-1811(02)00143-3","article-title":"Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin","volume":"31","author":"A Ishida-Yamamoto","year":"2003","journal-title":"J Dermatol Sci"},{"issue":"5","key":"ref25","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1684\/ejd.2016.2808","article-title":"Ichthyosis hystrix Lambert type and Curth-Macklin type are a single entity with affected (KRT1 mutation) or unaffected (KRT10 mutation) palms and soles?","volume":"26","author":"WH Wang","year":"2016","journal-title":"European journal of dermatology: EJD"},{"issue":"5","key":"ref26","first-page":"567","article-title":"Disturbed keratin expression and distinct genotype of ichthyosis hystrix Lambert type","volume":"20","author":"WH Wang","year":"2010","journal-title":"European journal of dermatology: EJD"},{"issue":"1","key":"ref27","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1016\/j.jid.2016.08.018","article-title":"The X-Ray Crystal Structure of the Keratin 1-Keratin 10 Helix 2B Heterodimer Reveals Molecular Surface Properties and Biochemical Insights into Human Skin Disease","volume":"137","author":"CG Bunick","year":"2017","journal-title":"The Journal of investigative dermatology"},{"issue":"5","key":"ref28","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1111\/j.1365-2133.2007.07792.x","article-title":"Ultrastructural features of ichthyosis hystrix strongly resembling Lambert type","volume":"156","author":"WH Wang","year":"2007","journal-title":"The British journal of dermatology"},{"key":"ref29","first-page":"99","article-title":"Genetic approaches to understanding the keratinopathies","volume":"12","author":"SJ Bale","year":"1997","journal-title":"Adv Dermatol"},{"issue":"8","key":"ref30","doi-asserted-by":"crossref","first-page":"1026","DOI":"10.1001\/archderm.1994.01690080092014","article-title":"Clinical heterogeneity in epidermolytic hyperkeratosis","volume":"130","author":"JJ DiGiovanna","year":"1994","journal-title":"Archives of dermatology"},{"issue":"4","key":"ref31","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1111\/j.1525-1470.2009.00969.x","article-title":"Bullous congenital ichthyosiform erythroderma: a sporadic case produced by a new KRT10 gene mutation","volume":"26","author":"I Betlloch","year":"2009","journal-title":"Pediatr Dermatol"},{"issue":"6","key":"ref32","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1046\/j.1523-1747.1998.00451.x","article-title":"A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma","volume":"111","author":"Y Suga","year":"1998","journal-title":"The Journal of investigative dermatology"},{"issue":"3","key":"ref33","doi-asserted-by":"crossref","first-page":"910","DOI":"10.1073\/pnas.89.3.910","article-title":"Extensive size polymorphism of the human keratin 10 chain resides in the C-terminal V2 subdomain due to variable numbers and sizes of glycine loops","volume":"89","author":"BP Korge","year":"1992","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"2","key":"ref34","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1038\/ng1093-158","article-title":"Identification of the genetic locus for keratosis palmaris et plantaris on chromosome 17 near the RARA and keratin type I genes","volume":"5","author":"EI Rogaev","year":"1993","journal-title":"Nat Genet"},{"issue":"13","key":"ref35","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1002\/jcc.20084","article-title":"UCSF Chimera\u2014a visualization system for exploratory research and analysis","volume":"25","author":"EF Pettersen","year":"2004","journal-title":"J Comput Chem"},{"issue":"7","key":"ref36","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1093\/bioinformatics\/btt055","article-title":"GROMACS 4.5: a high-throughput and highly parallel open source molecular simulation toolkit","volume":"29","author":"S Pronk","year":"2013","journal-title":"Bioinformatics"},{"issue":"7","key":"ref37","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1007\/s00249-011-0700-9","article-title":"Definition and testing of the GROMOS force-field versions 54A7 and 54B7","volume":"40","author":"N Schmid","year":"2011","journal-title":"Eur Biophys J"},{"issue":"1","key":"ref38","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/S0163-1047(81)92306-2","article-title":"Androgenic influences on apomorphine-induced yawning in rats","volume":"33","author":"HH Berendsen","year":"1981","journal-title":"Behav Neural Biol"},{"issue":"1","key":"ref39","doi-asserted-by":"crossref","first-page":"014101","DOI":"10.1063\/1.2408420","article-title":"Canonical sampling through velocity rescaling","volume":"126","author":"G Bussi","year":"2007","journal-title":"J Chem Phys"},{"issue":"12","key":"ref40","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1063\/1.464397","article-title":"An N\u22c5log(N) method for Ewald sums in large systems","volume":"98","author":"SK Darden","year":"1993","journal-title":"J Chem Phys"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0195792","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T07:06:42Z","timestamp":1604214402000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0195792"}},"subtitle":[],"editor":[{"given":"Maurice A.M.","family":"van Steensel","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2018,4,24]]},"references-count":40,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2018,4,24]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0195792","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,4,24]]}}}