Genetic Manipulation on Zebrafish duox Recapitulate the Clinical Manifestations of Congenital Hypothyroidism.
Genetic Manipulation on Zebrafish duox Recapitulate the Clinical Manifestations of Congenital Hypothyroidism.
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斑马鱼双体基因操作重现先天性甲状腺功能减退症的临床表现
DOI：
10.1210/endocr/bqab101
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发表时间：
2021-05
期刊：
影响因子：
4.8
通讯作者：
Song HD
中科院分区：
文献类型：
--
作者：
Sun F;Fang Y;Zhang MM;Zhang RJ;Wu FY;Yang RM;Tu PH;Dong M;Zhao SX;Song HD
Congenital hypothyroidism (CH) is a highly prevalent but treatable neonatal endocrine disorder. Thyroid dyshormonogenesis is the main cause of congenital hypothyroidism in Chinese CH patients and DUOX2 is the most frequent mutated gene involved in H2O2 production. In human, the primary sources for H2O2 production are DUOX1 and DUOX2, while in zebrafish, there is only a single orthologue for DUOX1 and DUOX2. In this study, duox mutant zebrafish were generated through knockdown duox by morpholino or knockout duox by CRISPR Cas9. The associated phenotypes were investigated and rescued by thyroxine (T4) treatment. Mutant zebrafish displayed hypothyroid phenotypes including growth retardation and goiter and infertility. Homozygous mutants in adults also displayed extra-thyroidal abnormal phenotypes including lacking barbels, pigmentation defects, erythema in the opercular region, ragged fins and delayed scales. All these abnormal phenotypes can be rescued by 10 nM T4 treatment. Strikingly, the fertility of zebrafish was dependent on thyroid hormone, T4 treatment should be continued and cannot be stopped over two weeks in hypothyroid zebrafish in order to achieve fertility. Thyroid hormones played a role in the developing and maturing of reproductive cells. Our work indicated that duox mutant zebrafish may provide a model for human congenital hypothyroidism.
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综合筛选21个候选基因分析中国先天性甲状腺功能减退症的遗传特征
影响因子：
5.8
作者：
Sun F;Zhang JX;Yang CY;Gao GQ;Zhu WB;Han B;Zhang LL;Wan YY;Ye XP;Ma YR;Zhang MM;Yang L;Zhang QY;Liu W;Guo CC;Chen G;Zhao SX;Song KY;Song HD
通讯作者：
Song HD
影响因子：
4
作者：
FRANCAVILLA, S;CORDESCHI, G;DARMIENTO, M
通讯作者：
DARMIENTO, M
DOI：
10.1210/jcem.86.7.7646
发表时间：
2001-07
期刊：
The Journal of clinical endocrinology and metabolism
影响因子：
--
作者：
Corinne Dupuy;L. Lacroix;M. Nocera;Monique Talbot;R. Ohayon;D. Dème;Jean-Michel Bidart;Martin S
通讯作者：
Corinne Dupuy;L. Lacroix;M. Nocera;Monique Talbot;R. Ohayon;D. Dème;Jean-Michel Bidart;Martin S
DOI：
--
发表时间：
2013
期刊：
--
影响因子：
--
作者：
Woong Y. Hwang;Yanfang Fu;D. Reyon;Morgan L. Maeder;S. Tsai;Jeffry D. Sander;R. Peterson;J.-R. Joanna Yeh-J.
通讯作者：
Woong Y. Hwang;Yanfang Fu;D. Reyon;Morgan L. Maeder;S. Tsai;Jeffry D. Sander;R. Peterson;J.-R. Joanna Yeh-J.
影响因子：
--
作者：
Johnson, Kenneth R.;Marden, Coleen C.;Donahue, Leah Rae
通讯作者：
Donahue, Leah Rae