{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T08:12:01Z","timestamp":1783930321591,"version":"3.55.0"},"reference-count":32,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,4,29]],"date-time":"2019-04-29T00:00:00Z","timestamp":1556496000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,4,29]],"date-time":"2019-04-29T00:00:00Z","timestamp":1556496000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100003392","name":"Natural Science Foundation of Fujian Province","doi-asserted-by":"publisher","award":["No.2018J01188"],"award-info":[{"award-number":["No.2018J01188"]}],"id":[{"id":"10.13039\/501100003392","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Trichilemmal cysts (TCs) are common intradermal or subcutaneous cysts, which are commonly sporadic and rarely autosomal dominantly inherited. However, little is known about the disease\u2010determining genes in families with TCs exhibiting Mendelian inheritance.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>The aim of this study was to identify the causative gene in a family with TCs.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Whole\u2010exome sequencing was performed on a TCs family to identify the candidate gene. Sanger sequencing was conducted to validate the candidate variants and familial segregation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified the heterozygous variant c.3G&gt;C (p.Met1?) within the\n                      <jats:italic>BPIFC<\/jats:italic>\n                      gene. Sanger sequencing confirmed the cosegregation of this variant with the TCs phenotype in the family by demonstrating the presence of the heterozygous variant in all the 12 affected and absence in all the seven unaffected individuals. This variant was found to be absent in dbSNP141, 1,000 Genomes database and 500 ethnicity matched controls.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Our results imply that\n                      <jats:italic>BPIFC<\/jats:italic>\n                      is a causative gene in this Chinese family with hereditary TCs. Further studies should be performed to validate the role of\n                      <jats:italic>BPIFC<\/jats:italic>\n                      in the pathogenesis of this disease.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.697","type":"journal-article","created":{"date-parts":[[2019,4,29]],"date-time":"2019-04-29T06:31:40Z","timestamp":1556519500000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Novel heterozygous\n                    <i>BPIFC<\/i>\n                    variant in a Chinese pedigree with hereditary trichilemmal cysts"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2116-2474","authenticated-orcid":false,"given":"Xian\u2010Guo","family":"Fu","sequence":"first","affiliation":[{"name":"Department of Central Laboratory Ningde Municipal Hospital, Fujian Medical University Ningde Fujian China"},{"name":"Department of Clinical Laboratory Ningde Municipal Hospital, Fujian Medical University Ningde Fujian China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhao","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Pathology Ningde Municipal Hospital, Fujian Medical University Ningde Fujian China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Su\u2010Juan","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Pathology Ningde Municipal Hospital, Fujian Medical University Ningde Fujian China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Central Laboratory Ningde Municipal Hospital, Fujian Medical University Ningde Fujian China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun\u2010Juan","family":"Peng","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory Ningde Municipal Hospital, Fujian Medical University Ningde Fujian China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luo\u2010Yuan","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Central Laboratory Ningde Municipal Hospital, Fujian Medical University Ningde Fujian China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hua","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Pathology Ningde Municipal Hospital, Fujian Medical University Ningde Fujian China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guang\u2010Hui","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Ningde Municipal Hospital, Fujian Medical University Ningde Fujian China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying\u2010Hua","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Central Laboratory Ningde Municipal Hospital, Fujian Medical University Ningde Fujian China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bao\u2010Ying","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Central Laboratory Ningde Municipal Hospital, Fujian Medical University Ningde Fujian China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,4,29]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng786"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pro.5560070408"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1110\/ps.03332704"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1042\/BST0390977"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1042\/BST0391023"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1165\/rcmb.2014-0297RT"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(19810901)48:5<1207::aid-cncr2820480526>3.0.co;2-1"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.17219\/acem\/67968"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.806"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30568"},{"issue":"11","key":"e_1_2_7_13_1","doi-asserted-by":"crossref","first-page":"4754","DOI":"10.1128\/iai.60.11.4754-4761.1992","article-title":"High\u2010affinity binding of the bactericidal\/permeability\u2010increasing protein and a recombinant amino\u2010terminal fragment to the lipid A region of lipopolysaccharide","volume":"60","author":"Gazzano\u2010Santoro H.","year":"1992","journal-title":"Infection and Immunity"},{"key":"e_1_2_7_14_1","volume-title":"Fitzpatrick's dermatology in general medicine","author":"Goldsmith L. 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