{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T03:21:26Z","timestamp":1770693686771,"version":"3.49.0"},"reference-count":29,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31860319"],"award-info":[{"award-number":["31860319"]}],"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":["32060165"],"award-info":[{"award-number":["32060165"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004001","name":"Guizhou Provincial Science and Technology Department","doi-asserted-by":"publisher","award":["2022"],"award-info":[{"award-number":["2022"]}],"id":[{"id":"10.13039\/501100004001","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004001","name":"Guizhou Provincial Science and Technology Department","doi-asserted-by":"publisher","award":["4Y125"],"award-info":[{"award-number":["4Y125"]}],"id":[{"id":"10.13039\/501100004001","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004001","name":"Guizhou Provincial Science and Technology Department","doi-asserted-by":"publisher","award":["yiban448"],"award-info":[{"award-number":["yiban448"]}],"id":[{"id":"10.13039\/501100004001","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005329","name":"Guizhou Provincial Natural Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005329","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Steroid Biochemistry and Molecular Biology"],"published-print":{"date-parts":[[2023,10]]},"DOI":"10.1016\/j.jsbmb.2023.106375","type":"journal-article","created":{"date-parts":[[2023,8,11]],"date-time":"2023-08-11T01:36:10Z","timestamp":1691717770000},"page":"106375","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"special_numbering":"C","title":["Unequal crossing over between CYP11B2 and CYP11B1 causes 11 \u03b2 -hydroxylase deficiency in a consanguineous family"],"prefix":"10.1016","volume":"233","author":[{"given":"Yu","family":"Xiong","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhen","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tingting","family":"Liang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pingping","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qingxiang","family":"Lu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jingye","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen","family":"Fang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Panyu","family":"Luo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Hu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miao","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ding\u2019an","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"9","key":"10.1016\/j.jsbmb.2023.106375_bib1","first-page":"4445","article-title":"Unequal Crossing-Over between Aldosterone Synthase and 11 -Hydroxylase Genes Causes Congenital Adrenal Hyperplasia","volume":"86","author":"MATHIAS","year":"2001","journal-title":"The Journal of Clinical Endocrinology & Metabolism"},{"key":"10.1016\/j.jsbmb.2023.106375_bib2","first-page":"155","article-title":"Congenital adrenal hyperplasia in the adult patient","volume":"44","author":"WL","year":"1999","journal-title":"Adv. Intern Med"},{"issue":"3","key":"10.1016\/j.jsbmb.2023.106375_bib3","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1159\/000281417","article-title":"Three novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11Beta-hydroxylase deficiency in a moroccan population","volume":"74","author":"Chabraoui L","year":"2010","journal-title":"Horm. Res Paediatr."},{"key":"10.1016\/j.jsbmb.2023.106375_bib4","article-title":"A novel chimeric CYP11B2\/CYP11B1 combined with a new p.L340P CYP11B1 mutation in a patient with 11OHD: case report","volume":"18","author":"Lian Duan","year":"2018","journal-title":"BMC Endocr. Disord."},{"issue":"5","key":"10.1016\/j.jsbmb.2023.106375_bib5","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1530\/EJE-13-0737","article-title":"Characterisation of three novel CYP11B1 mutations in classic and non classic 11beta-hydroxylase deficiency","volume":"170","author":"Polat S","year":"2014","journal-title":"Eur. J. Endocrinol."},{"key":"10.1016\/j.jsbmb.2023.106375_bib6","doi-asserted-by":"crossref","unstructured":"Isao Kuribayashi\uff0c Satoshi Nomoto\uff0c Guy Massa\uff0c Wilma Oostdijk\uff0c Jan M. Wit\uff0cBruce H.R. Wolffenbuttel\uff0cYutaka Shizuta\uff0c Koichi HonkeSteroid 11-Beta-Hydroxylase Defi ciency Caused by Compound Heterozygosity for a Novel Mutation, p.G314R, in One CYP11B1 Allele, and a Chimeric CYP11B2\/CYP11B1 in the Other Allele, Horm Res 63 (2005) 284\u2013293.","DOI":"10.1159\/000087074"},{"key":"10.1016\/j.jsbmb.2023.106375_bib7","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/j.steroids.2015.06.002","article-title":"Chimeric CYP11B2\/CYP11B1 causing 11beta-hydroxylase deficiency in Chinese patients with congenital adrenal hyperplasia","volume":"101","author":"Xu","year":"2015","journal-title":"Steroids"},{"issue":"3","key":"10.1016\/j.jsbmb.2023.106375_bib8","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1007\/s40618-015-0362-z","article-title":"Improving the diagnosis of 11beta-hydroxylase deficiency using homemade MLPA probes: identification of a novel chimeric CYP11B2\/CYP11B1 gene in a Sicilian patient","volume":"39","author":"Menabo S","year":"2016","journal-title":"J. Endocrinol. Invest."},{"key":"10.1016\/j.jsbmb.2023.106375_bib9","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.gene.2017.05.029","article-title":"Congenital adrenal hyperplasia due to 11-hydroxylase deficiency-compound heterozygous mutations of a prevalent and two novel CYP11B1 mutations","volume":"626","author":"Gu C","year":"2017","journal-title":"Gene"},{"issue":"12","key":"10.1016\/j.jsbmb.2023.106375_bib10","doi-asserted-by":"crossref","first-page":"4328","DOI":"10.1210\/jcem.83.12.5309","article-title":"Rapid diagnosis and identification of cross-over sites in patients with glucocorticoid remediable aldosteronism","volume":"83","author":"MacConnachie","year":"1998","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"1","key":"10.1016\/j.jsbmb.2023.106375_bib11","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1005679","article-title":"A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies","volume":"12","author":"Kohda","year":"2016","journal-title":"PLoS Genet"},{"issue":"4","key":"10.1016\/j.jsbmb.2023.106375_bib12","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1111\/jcmm.13022","article-title":"Qinghe Xing, A novel P53\/POMC\/G\u03b1s\/SASH1 autoregulatory feedback loop activates mutated SASH1 to cause pathologic hyperpigmentation","volume":"21","author":"An Zhou","year":"2017","journal-title":"Journal of Cellular and Molecular Medicine"},{"issue":"10","key":"10.1016\/j.jsbmb.2023.106375_bib13","doi-asserted-by":"crossref","first-page":"2465","DOI":"10.1111\/jcmm.13168","article-title":"p53 regulates ERK1\/2\/CREB cascade via a novel SASH1\/MAP2K2 crosstalk to induce hyperpigmentation","volume":"21","author":"Zhou","year":"2017","journal-title":"J. Cell Mol. Med"},{"issue":"3","key":"10.1016\/j.jsbmb.2023.106375_bib14","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1161\/HYPERTENSIONAHA.110.155135","article-title":"Aldosterone, plasma Renin activity, and aldosterone\/renin ratio in a normotensive healthy pediatric population","volume":"56","author":"Martinez-Aguayo","year":"2010","journal-title":"Hypertension"},{"key":"10.1016\/j.jsbmb.2023.106375_bib15","doi-asserted-by":"crossref","unstructured":"QIWEI YANG, HASSAN ABDELLAH AHMED ALI, SHAN YU, LIN ZHANG, XIUYING LI, ZHENWU DU and GUIZHEN ZHANG. Evaluation and validation of the suitable control genes for quantitative PCR studies in plasma DNA for noninvasive prenatal diagnosis, INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE 34 (2014) 1681\u20131687.","DOI":"10.3892\/ijmm.2014.1944"},{"key":"10.1016\/j.jsbmb.2023.106375_bib16","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1007\/978-1-4939-2914-6_17","article-title":"Docking and virtual screening strategies for GPCR drug discovery","author":"Beuming","year":"2015","journal-title":"Methods Mol. Biol."},{"key":"10.1016\/j.jsbmb.2023.106375_bib17","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1007\/978-1-4939-7201-2_18","article-title":"Docking and virtual screening in drug discovery","volume":"1647","author":"Kontoyianni","year":"2017","journal-title":"Methods Mol. Biol."},{"key":"10.1016\/j.jsbmb.2023.106375_bib18","article-title":"A novel 5-HT1B receptor agonist of herbal compounds and one of the therapeutic uses for alzheimer\u2019s disease","volume":"12","author":"Yang Yang","year":"2021","journal-title":"Front Pharm."},{"key":"10.1016\/j.jsbmb.2023.106375_bib19","article-title":"Detection of small CYP11B1 deletions and one founder chimeric CYP11B2\/CYP11B1 Gene in 11\u03b2-hydroxylase deficiency","volume":"13","author":"Hua Xie","year":"2022","journal-title":"Front. Endocrinol."},{"issue":"3","key":"10.1016\/j.jsbmb.2023.106375_bib20","doi-asserted-by":"crossref","first-page":"R125","DOI":"10.1530\/EJE-18-0279","article-title":"Mechanisms in endocrinology: rare defects in adrenal steroidogenesis","volume":"179","author":"WL","year":"2018","journal-title":"Eur. J. Endocrinol."},{"issue":"8","key":"10.1016\/j.jsbmb.2023.106375_bib21","first-page":"771","article-title":"Growth and pubertal development in patients with congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency","volume":"139","author":"Hochberg Z","year":"1985","journal-title":"Am. J. Dis. Child"},{"issue":"1","key":"10.1016\/j.jsbmb.2023.106375_bib22","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1097\/MED.0000000000000308","article-title":"Growth and development in children with classic congenital adrenal hyperplasia","volume":"24","author":"W","year":"2017","journal-title":"Curr. Opin. Endocrinol. Diabetes Obes."},{"issue":"3","key":"10.1016\/j.jsbmb.2023.106375_bib23","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1007\/BF00442149","article-title":"Hypertension in a neonate with 11 beta-hydroxylase deficiency","volume":"143","author":"Mimouni","year":"1985","journal-title":"Eur. J. Pedia"},{"issue":"35","key":"10.1016\/j.jsbmb.2023.106375_bib24","doi-asserted-by":"crossref","first-page":"20961","DOI":"10.1016\/S0021-9258(19)30030-4","article-title":"Characterization of two genes encoding human steroid 11 beta-hydroxylase (P-450(11) beta)","volume":"264","author":"Mornet","year":"1989","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jsbmb.2023.106375_bib25","doi-asserted-by":"crossref","unstructured":"STEPHANIE PORTRAT, PAOLO MULATERO, KATHLEEN M. CURNOW,JEAN-LOUIS CHAUSSAIN, YVES MOREL, and LEIGH PASCOE. Deletion Hybrid Genes, due to Unequal Crossing Over between CYP11B1 (11b-Hydroxylase) and CYP11B2 (Aldosterone Synthase) Cause Steroid 11b-Hydroxylase Deficiency and Congenital Adrenal Hyperplasia, The Journal of Clinical Endocrinology & Metabolism 86(7) (2001) 3197\u20133201.","DOI":"10.1210\/jc.86.7.3197"},{"key":"10.1016\/j.jsbmb.2023.106375_bib26","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1038\/355262a0","article-title":"A chimaeric 11b -hydroxylase\/aldosterone synthase gene causes gluco corticoid-remediable aldosteronism and human hypertension","volume":"355","author":"Lifton RP","year":"1992","journal-title":"Nature"},{"key":"10.1016\/j.jsbmb.2023.106375_bib27","doi-asserted-by":"crossref","unstructured":"Isao Kuribayashi\uff0c Satoshi Nomoto\uff0c Guy Massa\uff0c Wilma Oostdijk\uff0c Jan M. Wit\uff0cBruce H.R. Wolffenbuttel\uff0cYutaka Shizuta\uff0c Koichi Honke. Steroid 11-Beta-Hydroxylase Defi ciency Caused by Compound Heterozygosity for a Novel Mutation, p.G314R, in One CYP11B1 Allele, and a Chimeric CYP11B2\/CYP11B1 in the Other Allele, Horm Res 63 (2005):284\u2013293.","DOI":"10.1159\/000087074"},{"issue":"3","key":"10.1016\/j.jsbmb.2023.106375_bib28","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1016\/j.tem.2008.01.002","article-title":"Steroid 11beta- hydroxylase deficiency congenital adrenal hyperplasia","volume":"19","author":"Saroj Nimkarn","year":"2008","journal-title":"Trends Endocrinol. Metab."},{"issue":"3","key":"10.1016\/j.jsbmb.2023.106375_bib29","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1080\/713609355","article-title":"Pseudohyperaldosteronism: pathogenetic mechanisms","volume":"40","author":"Decio Armaninia","year":"2003","journal-title":"Crit. Rev. Clin. Lab Sci."}],"container-title":["The Journal of Steroid Biochemistry and Molecular Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960076023001309?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960076023001309?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,1,9]],"date-time":"2025-01-09T08:07:57Z","timestamp":1736410077000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960076023001309"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10]]},"references-count":29,"alternative-id":["S0960076023001309"],"URL":"https:\/\/doi.org\/10.1016\/j.jsbmb.2023.106375","relation":{},"ISSN":["0960-0760"],"issn-type":[{"value":"0960-0760","type":"print"}],"subject":[],"published":{"date-parts":[[2023,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Unequal crossing over between CYP11B2 and CYP11B1 causes 11 \u03b2 -hydroxylase deficiency in a consanguineous family","name":"articletitle","label":"Article Title"},{"value":"The Journal of Steroid Biochemistry and Molecular Biology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jsbmb.2023.106375","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"106375"}}