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An aroma of complexity: how the unique genetics of aromatase (CYP19A1) explain diverse phenotypes from hens and hyenas to human gynecomastia, and testicular and other tumors.

作者信息

Stratakis Constantine A

机构信息

Room 1-3330, East Laboratories, Building 10-CRC, 10 Center Drive, Section on Endocrinology & Genetics/Program on Developmental Endocrinology & Genetics, National Institute of Child Health & Human Development, National Institutes of Health, Bethesda, Maryland 20892.

出版信息

J Clin Endocrinol Metab. 2013 Dec;98(12):4676-81. doi: 10.1210/jc.2013-3990.

DOI:10.1210/jc.2013-3990
PMID:24311795
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3849672/
Abstract
摘要

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An aroma of complexity: how the unique genetics of aromatase (CYP19A1) explain diverse phenotypes from hens and hyenas to human gynecomastia, and testicular and other tumors.复杂性的气息：芳香化酶（CYP19A1）的独特遗传学如何解释从母鸡、鬣狗到人类男性乳房发育症以及睾丸和其他肿瘤的多种表型。
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Nat Rev Endocrinol. 2014 Nov;10(11):684-98. doi: 10.1038/nrendo.2014.139. Epub 2014 Aug 12.

本文引用的文献

1
Aromatase excess syndrome in a family with upstream deletion of CYP19A1.一个患有CYP19A1上游缺失的家族中的芳香化酶过剩综合征。
Clin Endocrinol (Oxf). 2014 Aug;81(2):314-6. doi: 10.1111/cen.12329. Epub 2013 Oct 18.
2
Liver abnormalities and endocrine diseases.肝脏异常与内分泌疾病。
Best Pract Res Clin Gastroenterol. 2013 Aug;27(4):553-63. doi: 10.1016/j.bpg.2013.06.014.
3
Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpression.芳香酶过多综合征的基因组基础：导致 CYP19A1 过表达的重组和复制介导的重排。
J Clin Endocrinol Metab. 2013 Dec;98(12):E2013-21. doi: 10.1210/jc.2013-2520. Epub 2013 Sep 24.
4
Overexpression of aromatase associated with loss of heterozygosity of the STK11 gene accounts for prepubertal gynecomastia in boys with Peutz-Jeghers syndrome.芳香酶的过度表达与 STK11 基因杂合性丢失有关，可导致 Peutz-Jeghers 综合征男孩出现青春期前乳腺发育。
J Clin Endocrinol Metab. 2013 Dec;98(12):E1979-87. doi: 10.1210/jc.2013-2291. Epub 2013 Sep 13.
5
Lack of genomic rearrangements involving the aromatase gene CYP19A1 in breast cancer.乳腺癌中缺乏涉及芳香化酶基因CYP19A1的基因组重排。
Breast Cancer. 2014 May;21(3):382-5. doi: 10.1007/s12282-013-0471-5. Epub 2013 Apr 30.
6
CREB-regulated transcription co-activator family stimulates promoter II-driven aromatase expression in preadipocytes.CREB 调节转录共激活因子家族在脂肪前体细胞中刺激启动子 II 驱动的芳香酶表达。
Horm Cancer. 2013 Aug;4(4):233-41. doi: 10.1007/s12672-013-0142-1. Epub 2013 Apr 13.
7
Endocrinological issues and hormonal manipulation in children and men with Klinefelter syndrome.克氏综合征儿童和男性的内分泌问题和激素处理。
Am J Med Genet C Semin Med Genet. 2013 Feb 15;163C(1):16-26. doi: 10.1002/ajmg.c.31350. Epub 2013 Jan 18.
8
Incidental copy-number variants identified by routine genome testing in a clinical population.在临床人群中通过常规基因组检测鉴定的偶然拷贝数变异。
Genet Med. 2013 Jan;15(1):45-54. doi: 10.1038/gim.2012.95. Epub 2012 Aug 9.
9
Drug-induced gynecomastia: an evidence-based review.药物引起的男性乳房发育症：基于证据的综述。
Expert Opin Drug Saf. 2012 Sep;11(5):779-95. doi: 10.1517/14740338.2012.712109. Epub 2012 Aug 6.
10
Large-cell calcifying Sertoli cell tumors of the testes in pediatrics.小儿睾丸大细胞钙化性支持细胞瘤。
Curr Opin Pediatr. 2012 Aug;24(4):518-22. doi: 10.1097/MOP.0b013e328355a279.