{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T03:14:21Z","timestamp":1788232461879,"version":"build-2803163510"},"reference-count":47,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"vor","delay-in-days":365,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["RC16\/2018"],"award-info":[{"award-number":["RC16\/2018"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100021016","name":"Istituto di Ricovero e Cura a Carattere Scientifico","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100021016","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009702","name":"La Fondazione IRCCS Ospedale Maggiore Policlinico","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009702","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["jidonline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Investigative Dermatology"],"published-print":{"date-parts":[[2025,9]]},"DOI":"10.1016\/j.jid.2025.01.029","type":"journal-article","created":{"date-parts":[[2025,2,19]],"date-time":"2025-02-19T12:27:12Z","timestamp":1739968032000},"page":"2229-2235.e1","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["Keratin Variants in Pyoderma Gangrenosum: Pathogenetic Insights from a Whole-Exome Sequencing\u2013Based Bioinformatic Analysis"],"prefix":"10.1016","volume":"145","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0060-5870","authenticated-orcid":false,"given":"Chiara","family":"Moltrasio","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9112-7167","authenticated-orcid":false,"given":"Ronald Rodrigues","family":"Moura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8588-4559","authenticated-orcid":false,"given":"Lucas","family":"Brand\u00e3o","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1954-4126","authenticated-orcid":false,"given":"Paola Maura","family":"Tricarico","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2914-1862","authenticated-orcid":false,"given":"Muhammad","family":"Suleman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9449-849X","authenticated-orcid":false,"given":"Carlo Alberto","family":"Maronese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8493-1168","authenticated-orcid":false,"given":"Sergio","family":"Crovella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8160-4169","authenticated-orcid":false,"given":"Angelo Valerio","family":"Marzano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jid.2025.01.029_bib1","doi-asserted-by":"crossref","first-page":"280","DOI":"10.3389\/fimmu.2020.00280","article-title":"Autoinflammatory keratinization diseases (AiKDs): expansion of disorders to be included","volume":"11","author":"Akiyama","year":"2020","journal-title":"Front Immunol"},{"key":"10.1016\/j.jid.2025.01.029_bib2","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.1111\/j.1365-2133.2011.10565.x","article-title":"Pyoderma gangrenosum: a retrospective review of patient characteristics, comorbidities and therapy in 103 patients","volume":"165","author":"Binus","year":"2011","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jid.2025.01.029_bib3","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1111\/j.1469-7580.2009.01066.x","article-title":"Structure and functions of keratin proteins in simple, stratified, keratinized and cornified epithelia","volume":"214","author":"Bragulla","year":"2009","journal-title":"J Anat"},{"key":"10.1016\/j.jid.2025.01.029_bib4","doi-asserted-by":"crossref","first-page":"2278","DOI":"10.3390\/ijms23042278","article-title":"Variant enrichment analysis to explore pathways functionality in complex autoinflammatory skin disorders through whole exome sequencing analysis","volume":"23","author":"Brand\u00e3o","year":"2022","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.jid.2025.01.029_bib5","doi-asserted-by":"crossref","first-page":"16900","DOI":"10.1073\/pnas.0804525105","article-title":"Crystal structure of poxvirus thymidylate kinase: an unexpected dimerization has implications for antiviral therapy","volume":"105","author":"Caillat","year":"2008","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.jid.2025.01.029_bib6","doi-asserted-by":"crossref","first-page":"W306","DOI":"10.1093\/nar\/gki375","article-title":"I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure","volume":"33","author":"Capriotti","year":"2005","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jid.2025.01.029_bib7","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1038\/ncb0804-699","article-title":"Cytoplasmic intermediate filaments revealed as dynamic and multipurpose scaffolds","volume":"6","author":"Coulombe","year":"2004","journal-title":"Nat Cell Biol"},{"key":"10.1016\/j.jid.2025.01.029_bib8","doi-asserted-by":"crossref","first-page":"3009","DOI":"10.1007\/s00296-023-05418-y","article-title":"Quantitative analysis of JAK\/STAT signaling pathway in patients of inflammatory skin disorders","volume":"44","author":"Demirci Yildirim","year":"2024","journal-title":"Rheumatol Int"},{"key":"10.1016\/j.jid.2025.01.029_bib9","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1007\/s40265-023-01931-3","article-title":"Pyoderma gangrenosum: treatment options","volume":"83","author":"Dissemond","year":"2023","journal-title":"Drugs"},{"key":"10.1016\/j.jid.2025.01.029_bib10","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1111\/exd.14534","article-title":"Pyoderma gangrenosum: a systematic review of the molecular characteristics of disease","volume":"31","author":"Flora","year":"2022","journal-title":"Exp Dermatol"},{"key":"10.1016\/j.jid.2025.01.029_bib11","doi-asserted-by":"crossref","first-page":"W395","DOI":"10.1093\/nar\/gkv343","article-title":"ENCoM server: exploring protein conformational space and the effect of mutations on protein function and stability","volume":"43","author":"Frappier","year":"2015","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jid.2025.01.029_bib13","doi-asserted-by":"crossref","first-page":"542","DOI":"10.23736\/S0392-0488.20.06629-8","article-title":"PAPA spectrum disorders","volume":"155","author":"Genovese","year":"2020","journal-title":"G Ital Dermatol Venereol"},{"key":"10.1016\/j.jid.2025.01.029_bib14","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1186\/s13059-017-1353-5","article-title":"Evaluation of in silico algorithms for use with ACMG\/AMP clinical variant interpretation guidelines","volume":"18","author":"Ghosh","year":"2017","journal-title":"Genome Biol"},{"key":"10.1016\/j.jid.2025.01.029_bib16","doi-asserted-by":"crossref","first-page":"669","DOI":"10.2174\/092986607781483912","article-title":"Ramachandran plot on the web (2.0)","volume":"14","author":"Gopalakrishnan","year":"2007","journal-title":"Protein Pept Lett"},{"key":"10.1016\/j.jid.2025.01.029_bib17","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1007\/s00403-024-02958-6","article-title":"Janus kinase inhibitors in the treatment of pyoderma gangrenosum: case report and review","volume":"316","author":"Gris\u00e9","year":"2024","journal-title":"Arch Dermatol Res"},{"key":"10.1016\/j.jid.2025.01.029_bib18","doi-asserted-by":"crossref","first-page":"2569","DOI":"10.1242\/jcs.114.14.2569","article-title":"Genes for intermediate filament proteins and the draft sequence of the human genome: novel keratin genes and a surprisingly high number of pseudogenes related to keratin genes 8 and 18","volume":"114","author":"Hesse","year":"2001","journal-title":"J Cell Sci"},{"key":"10.1016\/j.jid.2025.01.029_bib19","doi-asserted-by":"crossref","DOI":"10.1177\/09636897211014820","article-title":"The developmental & molecular requirements for ensuring that human pluripotent stem cell-derived hair follicle bulge stem cells have acquired competence for hair follicle generation following transplantation","volume":"30","author":"Ibrahim","year":"2021","journal-title":"Cell Transplant"},{"key":"10.1016\/j.jid.2025.01.029_bib21","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1111\/bjd.16401","article-title":"The Paracelsus score: a novel diagnostic tool for pyoderma gangrenosum","volume":"180","author":"Jockenh\u00f6fer","year":"2019","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jid.2025.01.029_bib22","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1038\/s41586-021-03819-2","article-title":"Highly accurate protein structure prediction with AlphaFold","volume":"596","author":"Jumper","year":"2021","journal-title":"Nature"},{"key":"10.1016\/j.jid.2025.01.029_bib23","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1016\/j.jaad.2018.02.007","article-title":"The impact of underlying disease state on outcomes in patients with pyoderma gangrenosum: a national survey","volume":"79","author":"Kaffenberger","year":"2018","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.jid.2025.01.029_bib24","doi-asserted-by":"crossref","first-page":"2145","DOI":"10.3390\/jcm11082145","article-title":"Identification of potentially pathogenic variants associated with recurrence in medication-related osteonecrosis of the jaw (MRONJ) patients using whole-exome sequencing","volume":"11","author":"Kim","year":"2022","journal-title":"J Clin Med"},{"key":"10.1016\/j.jid.2025.01.029_bib25","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1038\/s41592-018-0051-x","article-title":"Strelka2: fast and accurate calling of germline and somatic variants","volume":"15","author":"Kim","year":"2018","journal-title":"Nat Methods"},{"key":"10.1016\/j.jid.2025.01.029_bib26","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.1006\/jmbi.1993.1351","article-title":"Main-chain bond lengths and bond angles in protein structures","volume":"231","author":"Laskowski","year":"1993","journal-title":"J Mol Biol"},{"key":"10.1016\/j.jid.2025.01.029_bib27","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1159\/000443648","article-title":"PASS syndrome: an IL-1-driven autoinflammatory disease","volume":"232","author":"Leuenberger","year":"2016","journal-title":"Dermatology"},{"key":"10.1016\/j.jid.2025.01.029_bib28","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":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.jid.2025.01.029_bib29","doi-asserted-by":"crossref","first-page":"1371","DOI":"10.1016\/j.jid.2024.09.021","article-title":"Apocrine gland damage and the release of specific keratins in early stage indicate the crucial involvement of apocrine glands in hidradenitis suppurativa","volume":"145","author":"Li","year":"2025","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jid.2025.01.029_bib30","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1111\/bjd.14691","article-title":"Pyoderma gangrenosum and its syndromic forms: evidence for a link with autoinflammation","volume":"175","author":"Marzano","year":"2016","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jid.2025.01.029_bib31","doi-asserted-by":"crossref","DOI":"10.1097\/MD.0000000000000187","article-title":"Association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) shares genetic and cytokine profiles with other autoinflammatory diseases","volume":"93","author":"Marzano","year":"2014","journal-title":"Medicine (Baltimore)"},{"key":"10.1016\/j.jid.2025.01.029_bib32","doi-asserted-by":"crossref","first-page":"1588","DOI":"10.1111\/bjd.15226","article-title":"Autoinflammation in pyoderma gangrenosum and its syndromic form (pyoderma gangrenosum, acne and suppurative hidradenitis)","volume":"176","author":"Marzano","year":"2017","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jid.2025.01.029_bib33","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1159\/000521263","article-title":"Whole-exome sequencing in 10 unrelated patients with syndromic hidradenitis suppurativa: a preliminary step for a genotype-phenotype correlation","volume":"238","author":"Marzano","year":"2022","journal-title":"Dermatology"},{"key":"10.1016\/j.jid.2025.01.029_bib34","doi-asserted-by":"crossref","first-page":"254","DOI":"10.3109\/09546631003686069","article-title":"Pyoderma gangrenosum: study of 21 patients and proposal of a 'clinicotherapeutic' classification","volume":"22","author":"Marzano","year":"2011","journal-title":"J Dermatolog Treat"},{"key":"10.1016\/j.jid.2025.01.029_bib35","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1001\/jamadermatol.2017.5980","article-title":"Diagnostic criteria of ulcerative pyoderma gangrenosum: a Delphi consensus of international experts","volume":"154","author":"Maverakis","year":"2018","journal-title":"JAMA Dermatol"},{"key":"10.1016\/j.jid.2025.01.029_bib36","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1038\/s41572-020-0213-x","article-title":"Pyoderma gangrenosum","volume":"6","author":"Maverakis","year":"2020","journal-title":"Nat Rev Dis Primers"},{"key":"10.1016\/j.jid.2025.01.029_bib37","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":"McKenna","year":"2010","journal-title":"Genome Res"},{"key":"10.1016\/j.jid.2025.01.029_bib38","doi-asserted-by":"crossref","first-page":"162","DOI":"10.3390\/vaccines11010162","article-title":"Autoinflammation in syndromic hidradenitis suppurativa: the role of AIM2","volume":"11","author":"Moltrasio","year":"2023","journal-title":"Vaccines (Basel)"},{"key":"10.1016\/j.jid.2025.01.029_bib40","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1007\/s40257-024-00875-y","article-title":"Human inborn errors of immunity in pyoderma gangrenosum: a systematic review","volume":"25","author":"Oprea","year":"2024","journal-title":"Am J Clin Dermatol"},{"key":"10.1016\/j.jid.2025.01.029_bib41","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1016\/j.jid.2021.08.431","article-title":"Molecular and cellular characterization of pyoderma gangrenosum: implications for the use of gene expression","volume":"142","author":"Ortega-Loayza","year":"2022","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jid.2025.01.029_bib42","doi-asserted-by":"crossref","first-page":"W314","DOI":"10.1093\/nar\/gku411","article-title":"DUET: a server for predicting effects of mutations on protein stability using an integrated computational approach","volume":"42","author":"Pires","year":"2014","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jid.2025.01.029_bib43","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1093\/bioinformatics\/btt691","article-title":"mCSM: predicting the effects of mutations in proteins using graph-based signatures","volume":"30","author":"Pires","year":"2014","journal-title":"Bioinformatics"},{"key":"10.1016\/j.jid.2025.01.029_bib44","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1016\/j.jaad.2021.07.032","article-title":"The impact of comorbidity identification on outcomes in patients with pyoderma gangrenosum: a retrospective cohort study of previously hospitalized patients","volume":"87","author":"Ravi","year":"2022","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.jid.2025.01.029_bib45","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1002\/pro.3942","article-title":"DynaMut2: assessing changes in stability and flexibility upon single and multiple point missense mutations","volume":"30","author":"Rodrigues","year":"2021","journal-title":"Protein Sci"},{"key":"10.1016\/j.jid.2025.01.029_bib46","doi-asserted-by":"crossref","first-page":"6259","DOI":"10.1038\/s41467-024-50481-z","article-title":"Loss-of-function mutations in keratin 32 gene disrupt skin immune homeostasis in pityriasis rubra pilaris","volume":"15","author":"Shi","year":"2024","journal-title":"Nat Commun"},{"key":"10.1016\/j.jid.2025.01.029_bib47","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1111\/j.1365-4632.2004.02128.x","article-title":"Pyoderma gangrenosum: clinicopathologic correlation and proposed diagnostic criteria","volume":"43","author":"Su","year":"2004","journal-title":"Int J Dermatol"},{"key":"10.1016\/j.jid.2025.01.029_bib50","doi-asserted-by":"crossref","first-page":"1980","DOI":"10.3389\/fimmu.2017.01980","article-title":"Classic ulcerative pyoderma gangrenosum is a T cell-mediated disease targeting follicular adnexal structures: a hypothesis based on molecular and clinicopathologic studies","volume":"8","author":"Wang","year":"2018","journal-title":"Front Immunol"},{"key":"10.1016\/j.jid.2025.01.029_bib51","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jid.2025.01.029_bib52","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1007\/s13671-022-00355-8","article-title":"Neutrophilic dermatoses: a clinical update","volume":"11","author":"Weiss","year":"2022","journal-title":"Curr Dermatol Rep"},{"key":"10.1016\/j.jid.2025.01.029_bib53","doi-asserted-by":"crossref","first-page":"W215","DOI":"10.1093\/nar\/gkr363","article-title":"SDM--a server for predicting effects of mutations on protein stability and malfunction","volume":"39","author":"Worth","year":"2011","journal-title":"Nucleic Acids Res"}],"container-title":["Journal of Investigative Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X25001150?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X25001150?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T02:57:36Z","timestamp":1788231456000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022202X25001150"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9]]},"references-count":47,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["S0022202X25001150"],"URL":"https:\/\/doi.org\/10.1016\/j.jid.2025.01.029","relation":{},"ISSN":["0022-202X"],"issn-type":[{"value":"0022-202X","type":"print"}],"subject":[],"published":{"date-parts":[[2025,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Keratin Variants in Pyoderma Gangrenosum: Pathogenetic Insights from a Whole-Exome Sequencing\u2013Based Bioinformatic Analysis","name":"articletitle","label":"Article Title"},{"value":"Journal of Investigative Dermatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jid.2025.01.029","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 Society for Investigative Dermatology. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}