{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T06:41:23Z","timestamp":1773038483097,"version":"3.50.1"},"reference-count":36,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2016,4,1]],"date-time":"2016-04-01T00:00:00Z","timestamp":1459468800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"National Key Technology R&D Program","award":["2012BAI09B04"],"award-info":[{"award-number":["2012BAI09B04"]}]},{"name":"Special Basic Work of Science and Technology","award":["2014FY110700"],"award-info":[{"award-number":["2014FY110700"]}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Steroids"],"published-print":{"date-parts":[[2016,4]]},"DOI":"10.1016\/j.steroids.2016.01.016","type":"journal-article","created":{"date-parts":[[2016,1,29]],"date-time":"2016-01-29T00:46:58Z","timestamp":1454028418000},"page":"85-91","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":19,"special_numbering":"C","title":["Identification of five novel STAR variants in ten Chinese patients with congenital lipoid adrenal hyperplasia"],"prefix":"10.1016","volume":"108","author":[{"given":"Zhuo","family":"Huang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Ye","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lianshu","family":"Han","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenjuan","family":"Qiu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huiwen","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongguo","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lili","family":"Liang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhuwen","family":"Gong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuefan","family":"Gu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.steroids.2016.01.016_b0005","doi-asserted-by":"crossref","first-page":"1828","DOI":"10.1126\/science.7892608","article-title":"Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis","volume":"267","author":"Lin","year":"1995","journal-title":"Science (New York, NY)"},{"key":"10.1016\/j.steroids.2016.01.016_b0010","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1677\/jme.0.0190227","article-title":"Congenital lipoid adrenal hyperplasia: the human gene knockout for the steroidogenic acute regulatory protein","volume":"19","author":"Miller","year":"1997","journal-title":"J. Mol. Endocrinol."},{"key":"10.1016\/j.steroids.2016.01.016_b0015","doi-asserted-by":"crossref","first-page":"2111","DOI":"10.1194\/jlr.R016675","article-title":"Early steps in steroidogenesis: intracellular cholesterol trafficking","volume":"52","author":"Miller","year":"2011","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.steroids.2016.01.016_b0020","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1159\/000321214","article-title":"Functional and physiological consequences of StAR deficiency: role in lipoid congenital adrenal hyperplasia","volume":"20","author":"King","year":"2011","journal-title":"Endocr. Dev."},{"key":"10.1016\/j.steroids.2016.01.016_b0025","doi-asserted-by":"crossref","first-page":"4781","DOI":"10.1210\/jc.2006-1565","article-title":"Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia","volume":"91","author":"Baker","year":"2006","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.steroids.2016.01.016_b0030","doi-asserted-by":"crossref","first-page":"3865","DOI":"10.1210\/jc.2009-0467","article-title":"Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency","volume":"94","author":"Metherell","year":"2009","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.steroids.2016.01.016_b0035","doi-asserted-by":"crossref","first-page":"3352","DOI":"10.1210\/jc.2010-0437","article-title":"Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR)","volume":"95","author":"Sahakitrungruang","year":"2010","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.steroids.2016.01.016_b0040","doi-asserted-by":"crossref","first-page":"e20178","DOI":"10.1371\/journal.pone.0020178","article-title":"Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia","volume":"6","author":"Fluck","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.steroids.2016.01.016_b0045","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1210\/er.2010-0013","article-title":"The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders","volume":"32","author":"Miller","year":"2011","journal-title":"Endocr. Rev."},{"key":"10.1016\/j.steroids.2016.01.016_b0050","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1210\/me.2006-0303","article-title":"StAR search\u2013what we know about how the steroidogenic acute regulatory protein mediates mitochondrial cholesterol import","volume":"21","author":"Miller","year":"2007","journal-title":"Mol. Endocrinol."},{"key":"10.1016\/j.steroids.2016.01.016_b0055","doi-asserted-by":"crossref","first-page":"4000","DOI":"10.1210\/jc.2007-1306","article-title":"Role of a Founder c.201_202delCT mutation and new phenotypic features of congenital lipoid adrenal hyperplasia in palestinians","volume":"92","author":"Abdulhadi-Atwan","year":"2007","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.steroids.2016.01.016_b0060","doi-asserted-by":"crossref","first-page":"1870","DOI":"10.1056\/NEJM199612193352503","article-title":"The pathophysiology and genetics of congenital lipoid adrenal hyperplasia","volume":"335","author":"Bose","year":"1996","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.steroids.2016.01.016_b0065","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1210\/jc.2004-1323","article-title":"A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings","volume":"90","author":"Chen","year":"2005","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.steroids.2016.01.016_b0070","doi-asserted-by":"crossref","first-page":"5304","DOI":"10.1210\/jc.2005-0874","article-title":"A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia","volume":"90","author":"Fluck","year":"2005","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.steroids.2016.01.016_b0075","doi-asserted-by":"crossref","first-page":"6303","DOI":"10.1210\/jc.2005-0434","article-title":"Phenotypic features associated with mutations in steroidogenic acute regulatory protein","volume":"90","author":"Bhangoo","year":"2005","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.steroids.2016.01.016_b0080","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1002\/humu.20654","article-title":"Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker","volume":"29","author":"Wildeman","year":"2008","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.steroids.2016.01.016_b0085","doi-asserted-by":"crossref","first-page":"e19521","DOI":"10.1371\/journal.pone.0019521","article-title":"Comparative structural analysis of lipid binding START domains","volume":"6","author":"Thorsell","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.steroids.2016.01.016_b0090","first-page":"472","article-title":"Clinical features and StAR gene mutations in children with congenital lipoid adrenal hyperplasia","volume":"17","author":"Xie","year":"2015","journal-title":"Chin. J. Contemp. Pediatr."},{"key":"10.1016\/j.steroids.2016.01.016_b0095","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1093\/hmg\/6.4.571","article-title":"Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia","volume":"6","author":"Nakae","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.steroids.2016.01.016_b0100","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.steroids.2016.01.016_b0105","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1530\/eje.0.1420274","article-title":"Mechanism for the development of ovarian cysts in patients with congenital lipoid adrenal hyperplasia","volume":"142","author":"Shima","year":"2000","journal-title":"Eur. J. Endocrinol.\/Eur. Fed. Endocr. Soc."},{"key":"10.1016\/j.steroids.2016.01.016_b0110","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1515\/jpem.2010.196","article-title":"Polycystic ovaries and adrenal insufficiency in a young pubescent female with lipoid congenital adrenal hyperplasia due to splice mutation of the StAR gene: a case report and review of the literature","volume":"23","author":"Jehaimi","year":"2010","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"10.1016\/j.steroids.2016.01.016_b0115","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1007\/s00431-010-1342-0","article-title":"Ovarian cyst torsion in a patient with congenital lipoid adrenal hyperplasia","volume":"170","author":"Jin","year":"2010","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.steroids.2016.01.016_b0120","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1530\/EJE-12-0600","article-title":"Long-term clinical data and molecular defects in the STAR gene in five Greek patients","volume":"168","author":"Sertedaki","year":"2013","journal-title":"Eur. J. Endocrinol.\/Eur. Fed. Endocr. Soc."},{"key":"10.1016\/j.steroids.2016.01.016_b0125","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1507\/endocrj.K08E-102","article-title":"Ovarian histological findings in an adult patient with the steroidogenic acute regulatory protein (StAR) deficiency reveal the impairment of steroidogenesis by lipoid deposition","volume":"55","author":"Kaku","year":"2008","journal-title":"Endocr. J."},{"key":"10.1016\/j.steroids.2016.01.016_b0130","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1111\/j.1365-2265.2008.03392.x","article-title":"46, XY disorders of sex development (DSD)","volume":"70","author":"Mendonca","year":"2009","journal-title":"Clin. Endocrinol."},{"key":"10.1016\/j.steroids.2016.01.016_b0135","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1210\/jc.2010-1828","article-title":"Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia","volume":"96","author":"Sahakitrungruang","year":"2011","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.steroids.2016.01.016_b0140","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1530\/EJE-11-0597","article-title":"High allele frequency of the p. Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia","volume":"165","author":"Kim","year":"2011","journal-title":"Eur. J. Endocrinol.\/Eur. Fed. Endocr. Soc."},{"key":"10.1016\/j.steroids.2016.01.016_b0145","doi-asserted-by":"crossref","first-page":"13731","DOI":"10.1073\/pnas.93.24.13731","article-title":"Steroidogenic acute regulatory protein (StAR) retains activity in the absence of its mitochondrial import sequence: implications for the mechanism of StAR action","volume":"93","author":"Arakane","year":"1996","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.steroids.2016.01.016_b0150","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1038\/417087a","article-title":"Rapid regulation of steroidogenesis by mitochondrial protein import","volume":"417","author":"Bose","year":"2002","journal-title":"Nature"},{"key":"10.1016\/j.steroids.2016.01.016_b0155","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1016\/S0968-0004(99)01362-6","article-title":"START: a lipid-binding domain in StAR, HD-ZIP and signalling proteins","volume":"24","author":"Ponting","year":"1999","journal-title":"Trends Biochem. Sci."},{"key":"10.1016\/j.steroids.2016.01.016_b0160","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1038\/75192","article-title":"Structure and lipid transport mechanism of a StAR-related domain","volume":"7","author":"Tsujishita","year":"2000","journal-title":"Nat. Struct. Biol."},{"key":"10.1016\/j.steroids.2016.01.016_b0165","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1002\/1097-0134(20010501)43:2<134::AID-PROT1025>3.0.CO;2-I","article-title":"Adaptations of the helix-grip fold for ligand binding and catalysis in the START domain superfamily","volume":"43","author":"Iyer","year":"2001","journal-title":"Proteins"},{"key":"10.1016\/j.steroids.2016.01.016_b0170","first-page":"3636","article-title":"Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia","volume":"85","author":"Bose","year":"2000","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.steroids.2016.01.016_b0175","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1159\/000354086","article-title":"The novel mutation p.Trp147Arg of the steroidogenic acute regulatory protein causes classic lipoid congenital adrenal hyperplasia with adrenal insufficiency and 46,XY disorder of sex development","volume":"80","author":"Yuksel","year":"2013","journal-title":"Horm. Res. Paediatr."},{"key":"10.1016\/j.steroids.2016.01.016_b0180","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1111\/cen.12293","article-title":"STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases","volume":"80","author":"Camats","year":"2014","journal-title":"Clin. Endocrinol."}],"container-title":["Steroids"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0039128X16000179?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0039128X16000179?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,6,14]],"date-time":"2024-06-14T01:22:30Z","timestamp":1718328150000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0039128X16000179"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,4]]},"references-count":36,"alternative-id":["S0039128X16000179"],"URL":"https:\/\/doi.org\/10.1016\/j.steroids.2016.01.016","relation":{},"ISSN":["0039-128X"],"issn-type":[{"value":"0039-128X","type":"print"}],"subject":[],"published":{"date-parts":[[2016,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Identification of five novel STAR variants in ten Chinese patients with congenital lipoid adrenal hyperplasia","name":"articletitle","label":"Article Title"},{"value":"Steroids","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.steroids.2016.01.016","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2016 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}