学术学位博导
--> 职称：教授
**
单位：医学遗传学系
caoxin@njmu.edu.cn
专业：遗传学
个人简介
发表论文:
Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing.
Probing the Effect of Two Heterozygous Mutations in Codon 723 of SLC26A4 on Deafness Phenotype Based on Molecular Dynamics Simulations.
Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.
Understanding of the molecular evolution of deafness-associated pathogenic mutations of connexin 26.
Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China.
Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non syndromic hearing loss.
A novel compound heterozygous mutation in the GJB2 gene causing non-syndromic hearing loss in a family.
The association between abnormal microRNA-10b expression and cancer risk: a meta-analysis.
Identifi cation of two heterozygous deafness mutations inSLC26A4 (PDS) in a Chinese family with two siblings.
Maternally transmitted aminoglycoside-induced and non-syndromic hearing loss caused by the 1494C>T mutation in the mitochondrial 12S rRNA gene in two Chinese families.
教材专著:
生物医学导论
科研成果:
微阵列芯片技术在耳聋基因诊断中的应用
中国遗传性耳聋大家系临床特征、遗传表型及致聋分子机制的研究
中国遗传性耳聋大家系临床特征、遗传表型及致聋分子机制的研究
微阵列芯片技术在耳聋基因诊断中的应用
目前承担的科研项目:
遗传性感音神经性耳聋家系新的致病基因定位与克隆研究(31171217)
OSBPL2基因突变致聋的作用机制研究(31571302)
抗PRLR全人源抗体的研制及其协同Herceptin抗乳腺癌细胞增殖作用的研究
遗传性耳聋伴固醇代谢异常新型小型猪动物模型的建立与应用
遗传性感音神经性耳聋家系新的致病基因定位与克隆研究
遗传性感音神经性耳聋家系新的致病基因定位与克隆研究(31171217)
已经完成的科研项目:
耳聋基因突变筛查与临床应用
乳腺癌抗hPRLR治疗性全人源靶向免疫毒素的研究
耳聋基因突变筛查与临床应用
乳腺癌抗hPRLR治疗性全人源靶向免疫毒素的研究
