首页> 外文OA文献 >Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a homozygous 25 BP duplication (NT 4157-4181) at exon 5 in the CYP17 resulting in a premature stop codon predicted by molecular modeling Deficiência combinada de 17 alfa-hidroxilase/17,20 liase devido a duplicação de 25 PB (NT 4157-4181) no éxon 5 do CYP17 resultando em parada prematura de leitura predita por modelagem molecular

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Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a homozygous 25 BP duplication (NT 4157-4181) at exon 5 in the CYP17 resulting in a premature stop codon predicted by molecular modeling Deficiência combinada de 17 alfa-hidroxilase/17,20 liase devido a duplicação de 25 PB (NT 4157-4181) no éxon 5 do CYP17 resultando em parada prematura de leitura predita por modelagem molecular

机译：CYP17外显子5在第5外显子的纯合25 BP复制（NT 4157-4181）导致的17α-羟化酶/ 17,20-裂合酶联合缺乏症，导致通过分子建模17α-羟化酶联合缺乏症/ 17预测的提前终止密码子，由于CYP17外显子5中25 PB（NT 4157-4181）重复，导致20种裂解酶，导致分子模型预测的过早阅读停止

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Regina M. Martin; Paulo S. L. Oliveira; Elaine M. F. Costa; Ivo J. P. Arnhold; Berenice B. Mendonca;
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年度 2008
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1. Novel mutation of the CYP17 gene in two unrelated patients with combined 17alpha-hydroxylase/17,20-lyase deficiency: demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling. [J] . Patocs A, Liko I, Varga I, The Journal of Steroid Biochemistry and Molecular Biology . 2005,第3期

机译：CYP17基因的新型突变在两名无关联的17α-羟化酶/ 17,20-裂合酶缺乏症患者中：通过表达突变的CYP17基因并通过三维建模来证明缺乏酶活性。
2. Synthesis, biological evaluation, and molecular modeling studies of methylene imidazole substituted biaryls as inhibitors of human 17alpha-hydroxylase-17,20-lyase (CYP17)--part II: Core rigidification and influence of substituents at the methylene bridge. [J] . Hu Q, Negri M, Jahn-Hoffmann K, Bioorganic and medicinal chemistry . 2008,第16期

机译：作为人类17α-羟化酶-17,20-裂合酶（CYP17）抑制剂的亚甲基咪唑取代的联芳基的合成，生物学评估和分子模型研究-第二部分：核心刚性和亚甲基桥上取代基的影响。
3. Synthesis, biological evaluation and molecular modelling studies of methyleneimidazole substituted biaryls as inhibitors of human 17alpha-hydroxylase-17,20-lyase (CYP17). Part I: Heterocyclic modifications of the core structure. [J] . Jagusch C, Negri M, Hille UE, Bioorganic and medicinal chemistry . 2008,第4期

机译：合成，生物学评估和分子模拟研究亚甲基咪唑取代的联芳基作为人17α-羟化酶-17,20-裂解酶（CYP17）的抑制剂。第一部分：核心结构的杂环修饰。
4. Deficiência combinada de 17 alfa-hidroxilase/17,20 liase devido a duplicação de 25 PB (NT 4157-4181) no éxon 5 do CYP17 resultando em parada prematura de leitura predita por modelagem molecular [O] . MARTIN, Regina M., OLIVEIRA, Paulo S. L., COSTA, Elaine M. F., 2008

机译：由于在CYP17外显子5中复制25 PB（NT 4157-4181）而导致的17α羟化酶/17.20裂解酶缺乏症，导致通过分子建模预测过早阅读

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