sangqing@fudan.edu.cn

摘要

研究方向: 人类生殖疾病的遗传学基础；重要出生缺陷的遗传学基础。利用分子遗传学手段寻找人类疾病新致病基因，并利用细胞，动物模型对相关基因功能展开深入研究。

人类生殖疾病的遗传学基础；重要出生缺陷的遗传学基础。利用分子遗传学手段寻找人类疾病新致病基因，并利用细胞，动物模型对相关基因功能展开深入研究。

1. Feng, R., Sang, Q., Kuang, Y., Sun, X., Yan, Z., Zhang, S., Wang, L. (2016). Mutations in TUBB8 and Human Oocyte Meiotic Arrest. N Engl J Med, 374(3), 223-232.  (并列一作).

2. Feng, R., Sang, Q., Zhu, Y., Fu, W., Liu, M., Xu, Y., Wang, L. (2015). MiRNA-320 in the human follicular fluid is associated with embryo quality in vivo and affects mouse embryonic development in vitro.Sci Rep, 5, 8689. (并列一作).

3. Sang, Q., Li, W., Xu, Y., Qu, R., Xu, Z., Feng, R., Wang, L. (2015). ILDR1 deficiency causes degeneration of cochlear outer hair cells and disrupts the structure of the organ of Corti: a mouse model for human DFNB42. Biol Open, 4(4), 411-418.

4. Sang, Q., Mei, H., Kuermanhan, A., Feng, R., Guo, L., Qu, R., Wang, L. (2015). Identification of a novel compound heterozygous mutation in PTPRQ in a DFNB84 family with prelingual sensorineural hearing impairment. Mol Genet Genomics, 290(3), 1135-1139.

5. Sang, Q., Li, X., Wang, H., Wang, H., Zhang, S., Feng, R., Wang, L. (2014). Quantitative methylation level of the EPHX1 promoter in peripheral blood DNA is associated with polycystic ovary syndrome. PLoS One, 9(2).

6. Sang, Q., Zhang, J., Feng, R., Wang, X., Li, Q., Zhao, X., Wang, L. (2014). Ildr1b is essential for semicircular canal development, migration of the posterior lateral line primordium and hearing ability in zebrafish: implications for a role in the recessive hearing impairment DFNB42. Hum Mol Genet, 23(23), 6201-6211.

7. Sang, Q., Yan, X., Wang, H., Feng, R., Fei, X., Ma, D., Wang, L. (2013). Identification and functional study of a new missense mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). PLoS One, 8(1).

8. Sang, Q., Yao, Z., Wang, H., Feng, R., Wang, H., Zhao, X., Wang, L. (2013). Identification of microRNAs in human follicular fluid: characterization of microRNAs that govern steroidogenesis in vitro and are associated with polycystic ovary syndrome in vivo. J Clin Endocrinol Metab, 98(7), 3068-3079.

9. Sang, Q., Zhang, S., Zou, S., Wang, H., Feng, R., Li, Q., Wang, L. (2013). Quantitative analysis of follistatin (FST) promoter methylation in peripheral blood of patients with polycystic ovary syndrome. Reprod Biomed Online, 26(2), 157-163.