A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty

CemilKo?yi?it; SerdarSar?ta?; G?nül?atl?; HüseyinOnay; Bumin NuriDündar

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A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty

机译：一种新型的男性雄激素受体基因突变，导致部分男性雄激素不敏感综合征出现在男性生殖器发育不全的患者中

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《Journal of Clinical Research in Pediatric Endocrinology》 |2016年第2期|共4页
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CemilKo?yi?it; SerdarSar?ta?; G?nül?atl?; HüseyinOnay; Bumin NuriDündar;
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中图分类儿科学;
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1. Partial androgen insensitivity syndrome presenting as pubertal gynecomastia: clinical and hormonal findings and a novel mutation in the androgen receptor gene [J] . Priya Vaidyanathan, Paul Kaplowitz Endocrinology, Diabetes & Metabolism Case Reports . 2018,第1期

机译：表现为青春期男性乳房发育不全的部分雄激素不敏感综合征：临床和激素检查结果以及雄激素受体基因的新突变
2. Androgen receptor mutations causing human androgen insensitivity syndromes show a key role of residue M807 in Helix 8-Helix 10 interactions and in receptor ligand-binding domain stability. [J] . Ong YC, Kolatkar PR, Yong EL Molecular human reproduction. . 2002,第2期

机译：导致人类雄激素不敏感综合症的雄激素受体突变在螺旋8螺旋10相互作用和受体配体结合域稳定性中显示了残基M807的关键作用。
3. A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome [J] . Rafael Loch Batista, Andresa di Santi Rodrigues, Mirian Yumie Nishi, The Journal of Steroid Biochemistry and Molecular Biology . 2017,第期

机译：人雄激素受体基因中的复发同义突变，导致完全雄激素不敏感综合征
4. Novel Strategies for Targeting the Androgen-Receptor Axis: PARP1 as a Mediator of Androgen Receptor-Dependent Transcriptional Control [C] . Karen E. Knudsen Genitourinary Cancers Symposium . 2013

机译：靶向雄激素受体轴的新策略：PARP1作为雄激素受体依赖性转录控制的介质
5. Co-chaperone influence on androgen receptor signaling and identification of androgen receptor genes in prostate cancer. [D] . Prescott, Jennifer. 2007

机译：伴侣伴侣对前列腺癌中雄激素受体信号传导和雄激素受体基因鉴定的影响。
6. A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty [O] . Cemil Koçyiğit, Serdar Sarıtaş, Gönül Çatlı, 2016

机译：一种新型的男性雄激素受体基因突变导致部分男性雄激素不敏感综合征出现在青春期女性乳房发育症患者中。
7. Androgen receptor mutations causing human androgen insensitivity syndromes show a key role of residue M807 in Helix 8-Helix 10 interactions and in receptor ligand-binding domain stability [O] . Y.C. Ong 2002

机译：引起人雄激素内诱导综合征的雄激素受体突变显示残留物M807在螺旋8-螺旋10相互作用和受体配体结合结构域稳定性中的关键作用

A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty

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