{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T15:12:24Z","timestamp":1790176344510,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,11,22]],"date-time":"2018-11-22T00:00:00Z","timestamp":1542844800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81472871;"],"award-info":[{"award-number":["81472871;"]}],"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":["91539204"],"award-info":[{"award-number":["91539204"]}],"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":["31830054"],"award-info":[{"award-number":["31830054"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007225","name":"Ministry of Science and Technology","doi-asserted-by":"publisher","award":["2016YFC1000306"],"award-info":[{"award-number":["2016YFC1000306"]}],"id":[{"id":"10.13039\/100007225","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pigment Cell Melanoma Res"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hermansky\u2010Pudlak syndrome (HPS) is a rare recessive disorder characterized by oculocutaneous albinism (OCA) or ocular albinism (OA), bleeding tendency, and other symptoms due to multiple defects in tissue\u2010specific lysosome\u2010related organelles. Ten HPS subtypes have been characterized with mutations in <jats:italic>HPS1<\/jats:italic> to <jats:italic>HPS10<\/jats:italic>, which encode the subunits of BLOC\u20101, \u20102, \u20103, and AP\u20103. Using next\u2010generation sequencing (NGS), we have screened 100 hypopigmentation genes in OCA or OA patients and identified four HPS\u20101, one HPS\u20103, one HPS\u20104, one HPS\u20105, and three HPS\u20106. The HPS\u20104 case is the first report in the Chinese population. Among these 20 mutational alleles, 16 were previously unreported alleles (6 in <jats:italic>HPS1,<\/jats:italic> 1 in <jats:italic>HPS3,<\/jats:italic> 2 in <jats:italic>HPS4,<\/jats:italic> 2 in <jats:italic>HPS5,<\/jats:italic> and 5 in <jats:italic>HPS6<\/jats:italic>). BLOC\u20102 and BLOC\u20103 were destabilized due to the mutation of these HPS genes which are so far the only reported causative genes in Chinese HPS patients, in which HPS\u20101 and HPS\u20106 are the most common subtypes. The mutational spectrum of Chinese HPS is population specific.<\/jats:p>","DOI":"10.1111\/pcmr.12748","type":"journal-article","created":{"date-parts":[[2018,11,2]],"date-time":"2018-11-02T14:21:36Z","timestamp":1541168496000},"page":"373-380","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Instability of BLOC\u20102 and BLOC\u20103 in Chinese patients with Hermansky\u2010Pudlak syndrome"],"prefix":"10.1111","volume":"32","author":[{"given":"Aihua","family":"Wei","sequence":"first","affiliation":[{"name":"Department of Dermatology, Beijing Tongren Hospital Capital Medical University Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yefeng","family":"Yuan","sequence":"additional","affiliation":[{"name":"Beijing Key Laboratory for Genetics of Birth Defects; MOE Key Laboratory of Major Diseases in Children; Center for Medical Genetics, Beijing Pediatric Research Institute; Beijing Children\u2019s Hospital Capital Medical University; National Center for Children's Health  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhan","family":"Qi","sequence":"additional","affiliation":[{"name":"Beijing Key Laboratory for Genetics of Birth Defects; MOE Key Laboratory of Major Diseases in Children; Center for Medical Genetics, Beijing Pediatric Research Institute; Beijing Children\u2019s Hospital Capital Medical University; National Center for Children's Health  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teng","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Beijing Tongren Hospital Capital Medical University Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dayong","family":"Bai","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Beijing Children\u2019s Hospital Capital Medical University Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingzi","family":"Zhang","sequence":"additional","affiliation":[{"name":"Shunyi Women and Children\u2019s Hospital of Beijing Children\u2019s Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiaying","family":"Yu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology Chinese Academy of Sciences Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Yang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology Chinese Academy of Sciences Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiumin","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Beijing Tongren Hospital Capital Medical University Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7430-6019","authenticated-orcid":false,"given":"Wei","family":"Li","sequence":"additional","affiliation":[{"name":"Beijing Key Laboratory for Genetics of Birth Defects; MOE Key Laboratory of Major Diseases in Children; Center for Medical Genetics, Beijing Pediatric Research Institute; Beijing Children\u2019s Hospital Capital Medical University; National Center for Children's Health  Beijing China"},{"name":"Shunyi Women and Children\u2019s Hospital of Beijing Children\u2019s Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,11,22]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2015-09-671636"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.20210"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M311311200"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V14.2.162.162"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.9.081307.164303"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.141978"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20309"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jgg.2016.09.007"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12167"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.3.375"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng835"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12051"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2009.07.007"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2011.02.009"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2009.339"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12534"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jgg.2014.12.001"}],"container-title":["Pigment Cell &amp; Melanoma Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpcmr.12748","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pcmr.12748","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pcmr.12748","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pcmr.12748","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T05:59:31Z","timestamp":1694325571000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pcmr.12748"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,11,22]]},"references-count":18,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2019,5]]}},"alternative-id":["10.1111\/pcmr.12748"],"URL":"https:\/\/doi.org\/10.1111\/pcmr.12748","archive":["Portico"],"relation":{},"ISSN":["1755-1471","1755-148X"],"issn-type":[{"value":"1755-1471","type":"print"},{"value":"1755-148X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,11,22]]},"assertion":[{"value":"2018-05-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-10-21","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-11-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}