{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:56:20Z","timestamp":1792169780074,"version":"4.4.0"},"reference-count":25,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T00:00:00Z","timestamp":1783382400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007263","name":"Virginia Tech","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007263","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jidinnovations.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["JID Innovations"],"published-print":{"date-parts":[[2026,9]]},"DOI":"10.1016\/j.xjidi.2026.100507","type":"journal-article","created":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T20:40:32Z","timestamp":1783629632000},"page":"100507","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Autosomal recessive MALTA syndrome with compound heterozygous MYH9 variants: Structural modeling reveals disrupted myosin-9 assembly"],"prefix":"10.1016","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-7489-4981","authenticated-orcid":false,"given":"Etta","family":"Hanlon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6514-8976","authenticated-orcid":false,"given":"Katherine L.","family":"Brown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4787-3410","authenticated-orcid":false,"given":"Haley M.","family":"Michel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0363-6712","authenticated-orcid":false,"given":"Clinton","family":"Roby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-2252-7860","authenticated-orcid":false,"given":"Matthew G.","family":"Urbano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2180-2147","authenticated-orcid":false,"given":"Dzenis","family":"Mahmutovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-2906-3219","authenticated-orcid":false,"given":"Priyenka","family":"Khatiwada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0412-4508","authenticated-orcid":false,"given":"Daniel G.S.","family":"Capelluto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane","family":"Gay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6951-8228","authenticated-orcid":false,"given":"Anne M.","family":"Brown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6346-094X","authenticated-orcid":false,"given":"Douglas J.","family":"Grider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8417-4643","authenticated-orcid":false,"given":"Carla V.","family":"Finkielstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.xjidi.2026.100507_bib1","doi-asserted-by":"crossref","DOI":"10.1126\/science.adg7492","article-title":"Accurate proteome-wide missense variant effect prediction with AlphaMissense","volume":"381","author":"Cheng","year":"2023","journal-title":"Science"},{"key":"10.1016\/j.xjidi.2026.100507_bib2","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejcskn.2025.100733","article-title":"Unveiling cutaneous adenosquamous carcinoma: a systematic review and case analysis of a rare cutaneous malignancy","volume":"3","author":"Christie","year":"2025","journal-title":"EJC Skin Cancer"},{"key":"10.1016\/j.xjidi.2026.100507_bib3","doi-asserted-by":"crossref","first-page":"2238","DOI":"10.1016\/j.jid.2019.03.1151","article-title":"Malta (MYH9 associated elastin aggregation) syndrome: germline variants in MYH9 cause rare sweat duct proliferations and irregular elastin aggregations","volume":"139","author":"Fewings","year":"2019","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.xjidi.2026.100507_bib4","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1093\/ced\/llad263","article-title":"Squamous cell carcinoma and MYH9-associated elastin aggregation (Malta) syndrome","volume":"49","author":"Fostier","year":"2023","journal-title":"Clin Exp Dermatol"},{"key":"10.1016\/j.xjidi.2026.100507_bib5","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1038\/modpathol.3801000","article-title":"Microcystic adnexal carcinoma: an immunohistochemical reappraisal","volume":"21","author":"Hoang","year":"2008","journal-title":"Mod Pathol"},{"key":"10.1016\/j.xjidi.2026.100507_bib6","doi-asserted-by":"crossref","first-page":"6040","DOI":"10.1038\/s41467-023-41721-9","article-title":"AlphaFold-Multimer predicts cross-kingdom interactions at the plant-pathogen interface","volume":"14","author":"Homma","year":"2023","journal-title":"Nat Commun"},{"key":"10.1016\/j.xjidi.2026.100507_bib7","article-title":"Microcystic adnexal carcinoma of the eyelid and orbit: a case report and review of literature","volume":"102","author":"Huang","year":"2023","journal-title":"Medicine (Baltimore)"},{"key":"10.1016\/j.xjidi.2026.100507_bib8","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1016\/S0022-2836(02)00470-9","article-title":"On the role of the crystal environment in determining protein side-chain conformations","volume":"320","author":"Jacobson","year":"2002","journal-title":"J Mol Biol"},{"key":"10.1016\/j.xjidi.2026.100507_bib9","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1002\/prot.10613","article-title":"A hierarchical approach to all-atom protein loop prediction","volume":"55","author":"Jacobson","year":"2004","journal-title":"Proteins"},{"key":"10.1016\/j.xjidi.2026.100507_bib10","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.xjidi.2026.100507_bib11","doi-asserted-by":"crossref","first-page":"1978","DOI":"10.1093\/bioinformatics\/bty897","article-title":"VarSome: the human genomic variant search engine","volume":"35","author":"Kopanos","year":"2019","journal-title":"Bioinformatics"},{"key":"10.1016\/j.xjidi.2026.100507_bib12","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1007\/s100380170007","article-title":"Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions","volume":"46","author":"Kunishima","year":"2001","journal-title":"J Hum Genet"},{"key":"10.1016\/j.xjidi.2026.100507_bib13","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/0022-2836(82)90515-0","article-title":"A simple method for displaying the hydropathic character of a protein","volume":"157","author":"Kyte","year":"1982","journal-title":"J Mol Biol"},{"key":"10.1016\/j.xjidi.2026.100507_bib14","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1016\/S0002-9297(07)62942-5","article-title":"Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9","volume":"67","author":"Lalwani","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.xjidi.2026.100507_bib15","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1097\/DAD.0000000000001433","article-title":"Bilateral facial apocrine fibrosing hamartoma mimicking microcystic adnexal carcinoma","volume":"41","author":"Llamas-Velasco","year":"2019","journal-title":"Am J Dermatopathol"},{"key":"10.1016\/j.xjidi.2026.100507_bib16","doi-asserted-by":"crossref","DOI":"10.1073\/pnas.2406407121","article-title":"AlphaFold-Multimer accurately captures interactions and dynamics of intrinsically disordered protein regions","volume":"121","author":"Omidi","year":"2024","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.xjidi.2026.100507_bib17","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1016\/j.gene.2018.04.048","article-title":"MYH9: structure, functions and role of non-muscle myosin IIA in human disease","volume":"664","author":"Pecci","year":"2018","journal-title":"Gene"},{"key":"10.1016\/j.xjidi.2026.100507_bib18","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.xjidi.2026.100507_bib19","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1111\/j.1600-0560.2010.01527.x","article-title":"Sweat duct proliferation associated with aggregates of elastic tissue and atrophodermia vermiculata: a simulator of microcystic adnexal carcinoma. Report of two cases","volume":"37","author":"Schaller","year":"2010","journal-title":"J Cutan Pathol"},{"key":"10.1016\/j.xjidi.2026.100507_bib20","doi-asserted-by":"crossref","DOI":"10.1016\/j.rpth.2024.102552","article-title":"MYH9-related inherited thrombocytopenia: the genetic spectrum, underlying mechanisms, clinical phenotypes, diagnosis, and management approaches","volume":"8","author":"Shen","year":"2024","journal-title":"Res Pract Thromb Haemost"},{"key":"10.1016\/j.xjidi.2026.100507_bib21","doi-asserted-by":"crossref","first-page":"2647","DOI":"10.1093\/bioinformatics\/btaa058","article-title":"QMEANDisCo-distance constraints applied on model quality estimation [published correction appears in Bioinformatics 2020;36:2647]","volume":"36","author":"Studer","year":"2020","journal-title":"Bioinformatics"},{"key":"10.1016\/j.xjidi.2026.100507_bib22","doi-asserted-by":"crossref","first-page":"E5","DOI":"10.12788\/cutis.0280","article-title":"Squamoid eccrine ductal carcinoma","volume":"107","author":"Svoboda","year":"2021","journal-title":"Cutis"},{"key":"10.1016\/j.xjidi.2026.100507_bib23","doi-asserted-by":"crossref","first-page":"D368","DOI":"10.1093\/nar\/gkad1011","article-title":"AlphaFold Protein Structure Database in 2024: providing structure coverage for over 214 million protein sequences","volume":"52","author":"Varadi","year":"2024","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.xjidi.2026.100507_bib24","article-title":"Low-grade adenosquamous carcinoma of the breast","volume":"26","author":"Zhang","year":"2021","journal-title":"Hum Pathol Rep"},{"key":"10.1016\/j.xjidi.2026.100507_bib25","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1002\/pro.5560020310","article-title":"Packing and hydrophobicity effects on protein folding and stability: effects of beta-branched amino acids, valine and isoleucine, on the formation and stability of two-stranded alpha-helical coiled coils\/leucine zippers","volume":"2","author":"Zhu","year":"1993","journal-title":"Protein Sci"}],"container-title":["JID Innovations"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2667026726000603?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2667026726000603?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:43:17Z","timestamp":1792168997000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2667026726000603"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9]]},"references-count":25,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["S2667026726000603"],"URL":"https:\/\/doi.org\/10.1016\/j.xjidi.2026.100507","relation":{},"ISSN":["2667-0267"],"issn-type":[{"value":"2667-0267","type":"print"}],"subject":[],"published":{"date-parts":[[2026,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Autosomal recessive MALTA syndrome with compound heterozygous MYH9 variants: Structural modeling reveals disrupted myosin-9 assembly","name":"articletitle","label":"Article Title"},{"value":"JID Innovations","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.xjidi.2026.100507","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Author(s). Published by Elsevier Inc. on behalf of Society for Investigative Dermatology.","name":"copyright","label":"Copyright"}],"article-number":"100507"}}