{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T22:37:14Z","timestamp":1791844634236,"version":"4.3.4"},"reference-count":21,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2022,10,1]],"date-time":"2022-10-01T00:00:00Z","timestamp":1664582400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,10,1]],"date-time":"2022-10-01T00:00:00Z","timestamp":1664582400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T00:00:00Z","timestamp":1696636800000},"content-version":"vor","delay-in-days":371,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81872515"],"award-info":[{"award-number":["81872515"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82073423"],"award-info":[{"award-number":["82073423"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82003327"],"award-info":[{"award-number":["82003327"]}],"id":[{"id":"10.13039\/501100001809","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":[[2022,10]]},"DOI":"10.1016\/j.jid.2022.03.023","type":"journal-article","created":{"date-parts":[[2022,4,9]],"date-time":"2022-04-09T21:07:01Z","timestamp":1649538421000},"page":"2687-2694.e2","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":25,"title":["Biallelic Variants in\u00a0Lanosterol Synthase (LSS)\u00a0Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2"],"prefix":"10.1016","volume":"142","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4390-677X","authenticated-orcid":false,"given":"Fang","family":"Yang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9891-6353","authenticated-orcid":false,"given":"Xingyuan","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0192-0290","authenticated-orcid":false,"given":"Yuhao","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3135-3928","authenticated-orcid":false,"given":"Mingyang","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7302-6488","authenticated-orcid":false,"given":"Zhengren","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0463-7941","authenticated-orcid":false,"given":"Jianglin","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0434-1729","authenticated-orcid":false,"given":"Qian","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3413-8684","authenticated-orcid":false,"given":"Mao-ying","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5414-1472","authenticated-orcid":false,"given":"Huijun","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9323-2035","authenticated-orcid":false,"given":"Zhimiao","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jid.2022.03.023_bib1","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.jaad.2019.08.043","article-title":"Topical cholesterol\/lovastatin for the treatment of porokeratosis: a pathogenesis-directed therapy","volume":"82","author":"Atzmony","year":"2020","journal-title":"J\u00a0Am Acad Dermatol"},{"key":"10.1016\/j.jid.2022.03.023_bib2","doi-asserted-by":"crossref","first-page":"2025","DOI":"10.1038\/s41436-019-0445-x","article-title":"Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome","volume":"21","author":"Besnard","year":"2019","journal-title":"Genet Med"},{"key":"10.1016\/j.jid.2022.03.023_bib3","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1186\/s12967-021-02779-5","article-title":"MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders","volume":"19","author":"Caengprasath","year":"2021","journal-title":"J\u00a0Transl Med"},{"key":"10.1016\/j.jid.2022.03.023_bib4","doi-asserted-by":"crossref","first-page":"632","DOI":"10.1111\/ced.12857","article-title":"Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2","volume":"41","author":"Castori","year":"2016","journal-title":"Clin Exp Dermatol"},{"key":"10.1016\/j.jid.2022.03.023_bib5","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1515\/jpem-2017-0101","article-title":"Congenital cataract with LSS gene mutations: a new case report","volume":"30","author":"Chen","year":"2017","journal-title":"J\u00a0Pediatr Endocrinol Metab"},{"key":"10.1016\/j.jid.2022.03.023_bib6","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1111\/j.1365-2133.2010.09859.x","article-title":"Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder","volume":"163","author":"Clements","year":"2010","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jid.2022.03.023_bib7","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1111\/1346-8138.15697","article-title":"Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene","volume":"48","author":"Hua","year":"2021","journal-title":"J\u00a0Dermatol"},{"key":"10.1016\/j.jid.2022.03.023_bib8","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/j.tips.2005.05.004","article-title":"Lord of the rings--the mechanism for oxidosqualene:lanosterol cyclase becomes crystal clear","volume":"26","author":"Huff","year":"2005","journal-title":"Trends Pharmacol Sci"},{"key":"10.1016\/j.jid.2022.03.023_bib9","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1007\/s10545-012-9509-7","article-title":"Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases","volume":"36","author":"Lamari","year":"2013","journal-title":"J\u00a0Inherit Metab Dis"},{"key":"10.1016\/j.jid.2022.03.023_bib10","doi-asserted-by":"crossref","first-page":"e393","DOI":"10.1111\/1346-8138.15010","article-title":"A\u00a0novel and a known mutation in LSS gene associated with hypotrichosis 14 in a Chinese family","volume":"46","author":"Li","year":"2019","journal-title":"J\u00a0Dermatol"},{"key":"10.1016\/j.jid.2022.03.023_bib11","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1016\/j.ajhg.2012.02.006","article-title":"Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome","volume":"90","author":"Lin","year":"2012","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jid.2022.03.023_bib12","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1111\/1346-8138.15679","article-title":"Two cases of severe congenital hypotrichosis caused by compound heterozygous mutations in the LSS gene","volume":"48","author":"Murata","year":"2021","journal-title":"J\u00a0Dermatol"},{"key":"10.1016\/j.jid.2022.03.023_bib13","doi-asserted-by":"crossref","first-page":"2242","DOI":"10.1038\/jid.2011.189","article-title":"Pathogenesis-based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolism","volume":"131","author":"Paller","year":"2011","journal-title":"J\u00a0Invest Dermatol"},{"key":"10.1016\/j.jid.2022.03.023_bib14","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1111\/j.1365-2133.2011.10640.x","article-title":"Desmosomal genodermatoses","volume":"166","author":"Petrof","year":"2012","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jid.2022.03.023_bib15","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1016\/j.ajhg.2018.09.011","article-title":"Bi-allelic mutations in LSS, encoding lanosterol synthase, cause autosomal-recessive hypotrichosis simplex","volume":"103","author":"Romano","year":"2018","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jid.2022.03.023_bib16","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1038\/nature02993","article-title":"Insight into steroid scaffold formation from the structure of human oxidosqualene cyclase","volume":"432","author":"Thoma","year":"2004","journal-title":"Nature"},{"key":"10.1016\/j.jid.2022.03.023_bib17","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1008628","article-title":"Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice","volume":"16","author":"Wada","year":"2020","journal-title":"PLoS Genet"},{"key":"10.1016\/j.jid.2022.03.023_bib18","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1002\/ajmg.1320320415","article-title":"Cataracts, alopecia, and sclerodactyly: a previously apparently undescribed ectodermal dysplasia syndrome on the island of Rodrigues","volume":"32","author":"Wallis","year":"1989","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jid.2022.03.023_bib19","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1093\/hmg\/ddu442","article-title":"Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome","volume":"24","author":"Wang","year":"2015","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jid.2022.03.023_bib20","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.ajhg.2020.05.006","article-title":"Mutations in SREBF1, encoding sterol regulatory element binding transcription factor 1, cause autosomal-dominant IFAP syndrome","volume":"107","author":"Wang","year":"2020","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jid.2022.03.023_bib21","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1038\/nature14650","article-title":"Lanosterol reverses protein aggregation in cataracts","volume":"523","author":"Zhao","year":"2015","journal-title":"Nature"}],"container-title":["Journal of Investigative Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X22002706?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X22002706?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T06:34:38Z","timestamp":1778654078000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022202X22002706"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10]]},"references-count":21,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2022,10]]}},"alternative-id":["S0022202X22002706"],"URL":"https:\/\/doi.org\/10.1016\/j.jid.2022.03.023","relation":{},"ISSN":["0022-202X"],"issn-type":[{"value":"0022-202X","type":"print"}],"subject":[],"published":{"date-parts":[[2022,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Biallelic Variants in\u00a0Lanosterol Synthase (LSS)\u00a0Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2","name":"articletitle","label":"Article Title"},{"value":"Journal of Investigative Dermatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jid.2022.03.023","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 The Authors. Published by Elsevier, Inc. on behalf of the Society for Investigative Dermatology.","name":"copyright","label":"Copyright"}]}}