{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T05:48:06Z","timestamp":1780724886373,"version":"3.54.1"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,11,16]],"date-time":"2022-11-16T00:00:00Z","timestamp":1668556800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Skin Research and Technology"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To determine the causative gene mutation in a family with monilethrix and observe the therapeutic effect of 5% topical minoxidil.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Clinical data from a family with monilethrix were collected. Peripheral blood samples were taken from the proband, the parents, and 100 unrelated healthy controls. Genomic DNA was extracted. The genetic variation sites were screened with exome sequencing and verified by Sanger sequencing. The proband was treated with 5% topical minoxidil (1\u00a0mL twice daily). Hair quality was examined by dermoscopy before and after treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The proband and her father have the heterozygous missense variant c.1204G\u00a0&gt;\u00a0A (p.E402K) in exon 7 of the<jats:italic>KRT86<\/jats:italic>gene. However, the mutation was not found in the mother and healthy controls. The proband was treated with 5% topical minoxidil. Hair density and hair shaft quality improved significantly after 6 months of treatment. No adverse events occurred during treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study shows that p.E402K is a mutation \u201chot spot\u201d in patients with autosomal dominant monilethrix in China. Treatment with 5% topical minoxidil, is safe and effective.<\/jats:p><\/jats:sec>","DOI":"10.1111\/srt.13233","type":"journal-article","created":{"date-parts":[[2022,11,16]],"date-time":"2022-11-16T10:23:56Z","timestamp":1668594236000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Gene detection in a family with monilethrix and treatment with 5% topical minoxidil"],"prefix":"10.1111","volume":"29","author":[{"given":"Qingli","family":"Shen","sequence":"first","affiliation":[{"name":"Department of Pharmacy Henan Provincial People's Hospital Zhengzhou University People's Hospital Henan University People's Hospital Zhengzhou Henan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhonghua","family":"Fu","sequence":"additional","affiliation":[{"name":"Department of Pharmacy Henan Provincial People's Hospital Zhengzhou University People's Hospital Henan University People's Hospital Zhengzhou Henan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6943-485X","authenticated-orcid":false,"given":"Pengqiang","family":"Du","sequence":"additional","affiliation":[{"name":"Department of Pharmacy Henan Provincial People's Hospital Fuwai Central China Cardiovascular Hospital Central China Fuwai Hospital of Zhengzhou University Zhengzhou Henan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianbo","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Henan Provincial People's Hospital Zhengzhou University People's Hospital Henan University People's Hospital Zhengzhou Henan China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,11,16]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000022937"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1889"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdcr.2016.02.011"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1177\/039463201102400129"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.021030"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050607"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.1998.00362.x"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.14956"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.14339"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1346-8138.2012.01565.x"},{"issue":"16","key":"e_1_2_9_12_1","doi-asserted-by":"crossref","first-page":"3103","DOI":"10.3760\/cma.j.issn.0366-6999.20130332","article-title":"Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix","volume":"126","author":"Ye ZZ","year":"2013","journal-title":"Chin Med J (Engl)"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1590\/abd1806-4841.20153357"}],"container-title":["Skin Research and Technology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/srt.13233","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/srt.13233","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/srt.13233","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,8]],"date-time":"2024-10-08T09:07:43Z","timestamp":1728378463000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/srt.13233"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,16]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023,1]]}},"alternative-id":["10.1111\/srt.13233"],"URL":"https:\/\/doi.org\/10.1111\/srt.13233","archive":["Portico"],"relation":{},"ISSN":["0909-752X","1600-0846"],"issn-type":[{"value":"0909-752X","type":"print"},{"value":"1600-0846","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11,16]]},"assertion":[{"value":"2022-09-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-10-29","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-11-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e13233"}}