Unequal crossing over between CYP11B2 and CYP11B1 causes 11 ß -hydroxylase deficiency in a consanguineous family.

Xiong, Yu; Zeng, Zhen; Liang, Tingting; Yang, Pingping; Lu, Qingxiang; Yang, Jingye; Zhang, Jing; Fang, Wen; Luo, Panyu; Hu, Ying; Zhang, Miao; Zhou, Ding'an

Xiong, Yu; Zeng, Zhen; Liang, Tingting; Yang, Pingping; Lu, Qingxiang; Yang, Jingye; Zhang, Jing; Fang, Wen; Luo, Panyu; Hu, Ying; Zhang, Miao; Zhou, Ding'an.

Afiliação

Xiong Y; School of Clinical Laboratory Science, Guizhou Medical University, Guiyang, Guizhou, 550004, PR China; Clinical Research Center, the Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou 550004, PR China.
Zeng Z; School of Clinical Laboratory Science, Guizhou Medical University, Guiyang, Guizhou, 550004, PR China; Clinical Research Center, the Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou 550004, PR China.
Liang T; Clinical College, Guizhou Medical University, Guiyang, Guizhou 550004, PR China; Endocrine Metabolism Department, the Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou 550004, PR China.
Yang P; School of Clinical Laboratory Science, Guizhou Medical University, Guiyang, Guizhou, 550004, PR China; Clinical Research Center, the Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou 550004, PR China.
Lu Q; School of Clinical Laboratory Science, Guizhou Medical University, Guiyang, Guizhou, 550004, PR China; Clinical Research Center, the Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou 550004, PR China.
Yang J; School of Clinical Laboratory Science, Guizhou Medical University, Guiyang, Guizhou, 550004, PR China; Clinical Research Center, the Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou 550004, PR China.
Zhang J; Clinical Research Center, the Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou 550004, PR China.
Fang W; School of Clinical Laboratory Science, Guizhou Medical University, Guiyang, Guizhou, 550004, PR China.
Luo P; Endocrine Metabolism Department, the Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou 550004, PR China.
Hu Y; Endocrine Metabolism Department, the Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou 550004, PR China.
Zhang M; Endocrine Metabolism Department, the Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou 550004, PR China. Electronic address: zhangmiao@gmc.edu.cn.
Zhou D; Clinical Research Center, the Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou 550004, PR China; Key Laboratory of Medical Molecular Biologyï¼Guizhou province; Key Laboratory of Eedimic and Ethnic Disease, Ministry of Education; Key Laboratory of Medical Molecular Biology, Guizho

J Steroid Biochem Mol Biol ; 233: 106375, 2023 10.

Article em En | MEDLINE | ID: mdl-37572761

Assuntos

Citocromo P-450 CYP11B2; Esteroide 11-beta-Hidroxilase; Troca Genética; Citocromo P-450 CYP11B2/genética; Simulação de Acoplamento Molecular; Proteínas Recombinantes de Fusão/genética; Esteroide 11-beta-Hidroxilase/genética; Esteroide 11-beta-Hidroxilase/metabolismo; Humanos; Linhagem; Consanguinidade

Palavras-chave

11ß-hydroxylase deficiency; Bilateral macronodular hyperplastic adrenals; Chimeric CYP11B2/CYP11B1 gene; Congenital adrenal hyperplasia; Enzymatic activity; Meiosis; Molecular docking; Pseudoprecocious puberty

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esteroide 11-beta-Hidroxilase / Citocromo P-450 CYP11B2 Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Humans Idioma: En Revista: J Steroid Biochem Mol Biol Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA Ano de publicação: 2023 Tipo de documento: Article

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