{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T01:09:16Z","timestamp":1761959356965,"version":"build-2065373602"},"reference-count":20,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,10,24]],"date-time":"2022-10-24T00:00:00Z","timestamp":1666569600000},"content-version":"vor","delay-in-days":296,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Respiratory Medicine Case Reports"],"published-print":{"date-parts":[[2022]]},"DOI":"10.1016\/j.rmcr.2022.101757","type":"journal-article","created":{"date-parts":[[2022,10,25]],"date-time":"2022-10-25T13:35:04Z","timestamp":1666704904000},"page":"101757","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["A novel FLCN gene mutation causing Birt\u2013Hogg\u2013Dub\u00e9 syndrome in a Korean family"],"prefix":"10.1016","volume":"40","author":[{"given":"Jiyeon","family":"Bae","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jungwon","family":"Huh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sung Shine","family":"Shim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heae Surng","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yon Ju","family":"Ryu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.rmcr.2022.101757_bib1","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/S1535-6108(02)00104-6","article-title":"Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dub\u00e9 syndrome","volume":"2","author":"Nickerson","year":"2002","journal-title":"Cancer Cell"},{"issue":"12","key":"10.1016\/j.rmcr.2022.101757_bib2","doi-asserted-by":"crossref","first-page":"1674","DOI":"10.1001\/archderm.1977.01640120042005","article-title":"Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons","volume":"113","author":"Birt","year":"1977","journal-title":"Arch. Dermatol."},{"issue":"6","key":"10.1016\/j.rmcr.2022.101757_bib3","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1086\/430842","article-title":"Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dub\u00e9 syndrome","volume":"76","author":"Schmidt","year":"2005","journal-title":"Am. J. Hum. Genet."},{"issue":"6","key":"10.1016\/j.rmcr.2022.101757_bib4","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1136\/jmg.2007.054304","article-title":"BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dub\u00e9 syndrome: a new series of 50 families and a review of published reports","volume":"45","author":"Toro","year":"2008","journal-title":"J. Med. Genet."},{"issue":"3","key":"10.1016\/j.rmcr.2022.101757_bib5","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1007\/s10689-013-9660-9","article-title":"Pulmonary manifestations of Birt-Hogg-Dub\u00e9 syndrome","volume":"12","author":"Gupta","year":"2013","journal-title":"Fam. Cancer"},{"issue":"10","key":"10.1016\/j.rmcr.2022.101757_bib6","doi-asserted-by":"crossref","first-page":"1044","DOI":"10.1164\/rccm.200610-1483OC","article-title":"Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dub\u00e9 syndrome","volume":"175","author":"Toro","year":"2007","journal-title":"Am. J. Respir. Crit. Care Med."},{"issue":"4","key":"10.1016\/j.rmcr.2022.101757_bib7","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1097\/PAS.0b013e3182475240","article-title":"Pulmonary cysts of Birt-Hogg-Dub\u00e9 syndrome: a clinicopathologic and immunohistochemical study of 9 families","volume":"36","author":"Furuya","year":"2012","journal-title":"Am. J. Surg. Pathol."},{"issue":"4","key":"10.1016\/j.rmcr.2022.101757_bib8","first-page":"393","article-title":"Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dub\u00e9 syndrome","volume":"11","author":"Zbar","year":"2002","journal-title":"Cancer Epidemiol. Biomarkers Prev."},{"issue":"4","key":"10.1016\/j.rmcr.2022.101757_bib9","doi-asserted-by":"crossref","first-page":"830","DOI":"10.3904\/kjim.2018.119","article-title":"Birt-Hogg-Dub\u00e9 syndrome in Korean: clinicoradiologic features and long term follow-up","volume":"34","author":"Lee","year":"2019","journal-title":"Korean J. Intern. Med. (Korean Ed.)"},{"issue":"6","key":"10.1016\/j.rmcr.2022.101757_bib10","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0269358","article-title":"Epidemiology and clinical features of Birt-Hogg-Dub\u00e9 syndrome: a nationwide population-based study in South Korea","volume":"17","author":"Park","year":"2022","journal-title":"PLoS One"},{"key":"10.1016\/j.rmcr.2022.101757_bib11","doi-asserted-by":"crossref","first-page":"5111","DOI":"10.2147\/IJGM.S359660","article-title":"Clinical and genetic comparison of Birt-Hogg-Dub\u00e9 syndrome (Hornstein-Knickenberg syndrome) in Chinese: a systemic review of reported cases","volume":"15","author":"Zhou","year":"2022","journal-title":"Int. J. Gen. Med."},{"issue":"4","key":"10.1016\/j.rmcr.2022.101757_bib12","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1136\/jmg.2009.070565","article-title":"Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and\/or multiple lung cysts are the presenting feature","volume":"47","author":"Kunogi","year":"2010","journal-title":"J. Med. Genet."},{"issue":"5","key":"10.1016\/j.rmcr.2022.101757_bib13","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1111\/cge.12807","article-title":"Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dub\u00e9 syndrome","volume":"90","author":"Furuya","year":"2016","journal-title":"Clin. Genet."},{"issue":"3","key":"10.1016\/j.rmcr.2022.101757_bib14","first-page":"751","article-title":"Association between Birt Hogg Dube syndrome and cancer predisposition","volume":"30","author":"Palmirotta","year":"2010","journal-title":"Anticancer Res."},{"issue":"37","key":"10.1016\/j.rmcr.2022.101757_bib15","doi-asserted-by":"crossref","first-page":"5239","DOI":"10.1038\/sj.onc.1204703","article-title":"Birt-Hogg-Dub\u00e9 syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2","volume":"20","author":"Khoo","year":"2001","journal-title":"Oncogene"},{"issue":"1","key":"10.1016\/j.rmcr.2022.101757_bib16","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1038\/sj.jid.5700959","article-title":"Birt-Hogg-Dub\u00e9 syndrome: clinical and genetic studies of 20 families","volume":"128","author":"Leter","year":"2008","journal-title":"J. Invest. Dermatol."},{"issue":"12","key":"10.1016\/j.rmcr.2022.101757_bib17","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1136\/jmg.39.12.906","article-title":"Clinical and genetic studies of Birt-Hogg-Dub\u00e9 syndrome [published correction appears in J Med Genet","volume":"39","author":"Khoo","year":"2002","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.rmcr.2022.101757_bib18","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/j.gene.2017.09.044","article-title":"FLCN: the causative gene for Birt-Hogg-Dub\u00e9 syndrome","volume":"640","author":"Schmidt","year":"2018","journal-title":"Gene"},{"issue":"8","key":"10.1016\/j.rmcr.2022.101757_bib19","article-title":"Folliculin regulates cell-cell adhesion, AMPK, and mTORC1 in a cell-type-specific manner in lung-derived cells","volume":"2","author":"Khabibullin","year":"2014","journal-title":"Phys. Rep."},{"issue":"10","key":"10.1016\/j.rmcr.2022.101757_bib20","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1038\/nrurol.2015.206","article-title":"Molecular genetics and clinical features of Birt-Hogg-Dub\u00e9 syndrome","volume":"12","author":"Schmidt","year":"2015","journal-title":"Nat. Rev. Urol."}],"container-title":["Respiratory Medicine Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2213007122001794?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2213007122001794?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T01:05:58Z","timestamp":1761959158000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2213007122001794"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022]]},"references-count":20,"alternative-id":["S2213007122001794"],"URL":"https:\/\/doi.org\/10.1016\/j.rmcr.2022.101757","relation":{},"ISSN":["2213-0071"],"issn-type":[{"type":"print","value":"2213-0071"}],"subject":[],"published":{"date-parts":[[2022]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A novel FLCN gene mutation causing Birt\u2013Hogg\u2013Dub\u00e9 syndrome in a Korean family","name":"articletitle","label":"Article Title"},{"value":"Respiratory Medicine Case Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.rmcr.2022.101757","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 Ltd.","name":"copyright","label":"Copyright"}],"article-number":"101757"}}