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Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis.

机译：人类NR5a1 / sF-1突变显示BDNF（脑源性神经营养因子）活性降低，BDNF是能量平衡的重要调节因子：测试新型sF-1突变对类固醇生成的影响。

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Jana Malikova; Núria Camats; Mónica Fernández-Cancio; Karen Heath; Isabel González; María Caimarí; Miguel del Campo; Marian Albisu; Stanislava Kolouskova; Laura Audí; Christa E Flück;
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1. Four Novel NR5A1 Mutations in 46,XY Gonadal Dysgenesis Patients Including Frameshift Mutations with Altered Subcellular SF-1 Localization [J] . Rehkaemper Jan, Tewes Ann-Christin, Horvath Judit, Sexual development: genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation . 2017 ,第5a6期

机译：46个新的NR5A1突变，XY Gonadal脱蛋白患者，包括具有改变的亚细胞SF-1定位的框架突变
2. A Novel Heterozygous Mutation of Steroidogenic Factor-1 (SF-1/Ad4BP) Gene (NR5A1) in a 46, XY Disorders of Sex Development (DSD) Patient without Adrenal Failure [J] . Toshihiro TAJIMA, Fumie FUJIWARA, Kenji FUJIEDA Endocrine journal . 2009 ,第4期

机译：在没有肾上腺功能衰竭的46，XY障碍性发育（DSD）患者中，新型的类固醇生成因子-1（SF-1 / Ad4BP）基因（NR5A1）杂合突变。
3. A Novel Heterozygous Mutation of Steroidogenic Factor-1 (SF-1/Ad4BP) Gene (NR5A1) in a 46, XY Disorders of Sex Development (DSD) Patient without Adrenal Failure [J] . Fumie FUJIWARA, Kenji FUJIEDA, Toshihiro TAJIMA Endocrine journal . 2009 ,第4期

机译：在没有肾上腺功能衰竭的46，XY障碍性发育（DSD）患者中，新型的类固醇生成因子-1（SF-1 / Ad4BP）基因（NR5A1）杂合突变。
4. Modelling the functional impact of KCNA5 mutations on the electrical and mechanical activities of human atrial cells [C] . Haibo Ni, Colman Michael /A/., Henggui Zhang Computing in Cardiology Conference . 2014

机译：模拟KCNA5突变对人心房细胞电和机械活动的功能影响
5. Characterization of the neurotrophic factor Brain-Derived Neurotrophic Factor (BDNF) in intestinal smooth muscle cells . [D] . Al Qudah, Mohammad A. 2013

机译：肠道平滑肌细胞中神经营养因子脑源性神经营养因子（BDNF）的特征。
6. Human NR5A1/SF-1 Mutations Show Decreased Activity on BDNF (Brain-Derived Neurotrophic Factor) an Important Regulator of Energy Balance: Testing Impact of Novel SF-1 Mutations Beyond Steroidogenesis [O] . Jana Malikova, Núria Camats, Mónica Fernández-Cancio, -1

机译：人类NR5A1 / SF-1突变对BDNF（脑源性神经营养因子）（一种重要的能量平衡调节剂）的活性降低：测试新型SF-1突变对类固醇形成的影响
7. Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis [O] . Malikova, Jana, Camats Tarruella, Núria, Fernández-Cancio, Mónica, 2014

机译：人类NR5A1 / SF-1突变显示对BDNF（脑源性神经营养因子）的活性降低，BDNF是能量平衡的重要调节剂：测试新型SF-1突变对类固醇生成的影响

Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis.

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