THOC1 deficiency leads to late-onset nonsyndromic hearing loss through p53-mediated hair cell apoptosis
Zhang, Luping, Gao, Yu, Zhang, Ru, Sun, Feifei, Cheng, Cheng, Qian, Fuping, Duan, Xuchu, Wei, Guanyun, Sun, Cheng, Pang, Xiuhong, Chen, Penghui, Chai, Renjie, Yang, Tao, Wu, Hao, Liu, Dong
Published in PLoS genetics (10.08.2020)
Published in PLoS genetics (10.08.2020)
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Disruption of Hars2 in Cochlear Hair Cells Causes Progressive Mitochondrial Dysfunction and Hearing Loss in Mice
Xu, Pengcheng, Wang, Longhao, Peng, Hu, Liu, Huihui, Liu, Hongchao, Yuan, Qingyue, Lin, Yun, Xu, Jun, Pang, Xiuhong, Wu, Hao, Yang, Tao
Published in Frontiers in cellular neuroscience (15.12.2021)
Published in Frontiers in cellular neuroscience (15.12.2021)
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Targeted next-generation sequencing in Uyghur families with non-syndromic sensorineural hearing loss
Chen, Ying, Wang, Zhentao, Wang, Zhaoyan, Chen, Dongye, Chai, Yongchuan, Pang, Xiuhong, Sun, Lianhua, Wang, Xiaowen, Yang, Tao, Wu, Hao
Published in PloS one (26.05.2015)
Published in PloS one (26.05.2015)
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Identification and Characterization of a Cryptic Genomic Deletion-Insertion in EYA1 Associated with Branchio-Otic Syndrome
Zheng, Hao, Xu, Jun, Wang, Yu, Lin, Yun, Hu, Qingqiang, Li, Xing, Chu, Jiusheng, Sun, Changling, Chai, Yongchuan, Pang, Xiuhong
Published in Journal of neural transplantation & plasticity (2021)
Published in Journal of neural transplantation & plasticity (2021)
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Characterization of spectrum, de novo rate and genotype-phenotype correlation of dominant GJB2 mutations in Chinese hans
Pang, Xiuhong, Chai, Yongchuan, Sun, Lianhua, Chen, Dongye, Chen, Ying, Zhang, Zhihua, Wu, Hao, Yang, Tao
Published in PloS one (19.06.2014)
Published in PloS one (19.06.2014)
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A 1.6-Mb microdeletion in chromosome 17q22 leads to NOG-related symphalangism spectrum disorder without intellectual disability
Pang, Xiuhong, Luo, Huajie, Chai, Yongchuan, Wang, Xiaowen, Sun, Lianhua, He, Longxia, Chen, Penghui, Wu, Hao, Yang, Tao
Published in PloS one (27.03.2015)
Published in PloS one (27.03.2015)
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NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness
Yang, Tao, Wang, Xiaowen, Pang, Xiuhong, He, Longxia, Chen, Penghui, Wu, Hao
Published in Journal of neural transplantation & plasticity (01.01.2016)
Published in Journal of neural transplantation & plasticity (01.01.2016)
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Association of GRM7 variants with different phenotype patterns of age-related hearing impairment in an elderly male Han Chinese population
Luo, Huajie, Yang, Tao, Jin, Xiaojie, Pang, Xiuhong, Li, Jiping, Chai, Yongchuan, Li, Lei, Zhang, Yi, Zhang, Luping, Zhang, Zhihua, Wu, Wenjing, Zhang, Qin, Hu, Xianting, Sun, Jingwen, Jiang, Xuemei, Fan, Zhuping, Huang, Zhiwu, Wu, Hao
Published in PloS one (11.10.2013)
Published in PloS one (11.10.2013)
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Molecular etiology of non-dominant, non-syndromic, mild-to-moderate childhood hearing impairment in Chinese Hans
Chai, Yongchuan, Pang, Xiuhong, Chen, Dongye, Li, Lei, Chen, Ying, Sun, Lianhua, Wang, Xiaowen, Wu, Hao, Yang, Tao
Published in American journal of medical genetics. Part A (01.12.2014)
Published in American journal of medical genetics. Part A (01.12.2014)
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Journal Article
Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome
Sun, Lianhua, Li, Xiaohua, Shi, Jun, Pang, Xiuhong, Hu, Yechen, Wang, Xiaowen, Wu, Hao, Yang, Tao
Published in Scientific reports (19.10.2016)
Published in Scientific reports (19.10.2016)
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Journal Article
A Dominant Mutation in the Stereocilia-Expressing Gene TBC1D24 is a Probable Cause for Nonsyndromic Hearing Impairment
Zhang, Luping, Hu, Lingxiang, Chai, Yongchuan, Pang, Xiuhong, Yang, Tao, Wu, Hao
Published in Human mutation (01.07.2014)
Published in Human mutation (01.07.2014)
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Journal Article
A homozygous MITF mutation leads to familial Waardenburg syndrome type 4
Pang, Xiuhong, Zheng, Xiaoyong, Kong, Xuhui, Chai, Yongchuan, Wang, Yu, Qian, Hua, Yang, Bo, Wu, Chao, Chu, Jiusheng, Yang, Tao
Published in American journal of medical genetics. Part A (01.02.2019)
Published in American journal of medical genetics. Part A (01.02.2019)
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Journal Article
Carrier re-sequencing reveals rare but benign variants in recessive deafness genes
He, Longxia, Pang, Xiuhong, Chen, Penghui, Wang, Xiaowen, Yang, Tao, Wu, Hao
Published in Scientific reports (12.09.2017)
Published in Scientific reports (12.09.2017)
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Journal Article
Mono-allelic mutations of SLC26A4 is over-presented in deaf patients with non-syndromic enlarged vestibular aqueduct
Pang, Xiuhong, Chai, Yongchuan, Chen, Penghui, He, Longxia, Wang, Xiaowen, Wu, Hao, Yang, Tao
Published in International journal of pediatric otorhinolaryngology (01.08.2015)
Published in International journal of pediatric otorhinolaryngology (01.08.2015)
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Journal Article
A Novel Missense Mutation of NOG Interferes With the Dimerization of NOG and Causes Proximal Symphalangism Syndrome in a Chinese Family
Pang, Xiuhong, Wang, Zhaoyan, Chai, Yongchuan, Chen, Hongsai, Li, Lei, Sun, Lianhua, Jia, Huan, Wu, Hao, Yang, Tao
Published in Annals of otology, rhinology & laryngology (01.09.2015)
Published in Annals of otology, rhinology & laryngology (01.09.2015)
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Journal Article
p53 performs an essential role in mediating the oncogenic stimulus triggered by loss of expression of neurofibromatosis type 2 during in vitro tumor progression
Li, Xiye, Chen, Hongsai, Xue, Lu, Pang, Xiuhong, Zhang, Xiaoman, Zhu, Zhengjie, Zhu, Weidong, Wang, Zhaoyan, Wu, Hao
Published in Oncology letters (01.08.2017)
Published in Oncology letters (01.08.2017)
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Journal Article
A 7666-bp genomic deletion is frequent in Chinese Han deaf patients with non-syndromic enlarged vestibular aqueduct but without bi-allelic SLC26A4 mutations
Pang, Xiuhong, Chai, Yongchuan, He, Longxia, Chen, Penghui, Wang, Xiaowen, Li, Lei, Jia, Huan, Wu, Hao, Yang, Tao
Published in International journal of pediatric otorhinolaryngology (01.12.2015)
Published in International journal of pediatric otorhinolaryngology (01.12.2015)
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Journal Article
Identification of both MT-RNR1 m.1555A>G and bi-allelic GJB2 mutations in probands with non-syndromic hearing loss
Chai, Yongchuan, Sun, Lianhua, Pang, Xiuhong, Wang, Xiaowen, Chen, Dongye, Chen, Ying, Wu, Hao, Yang, Tao
Published in International journal of pediatric otorhinolaryngology (01.04.2014)
Published in International journal of pediatric otorhinolaryngology (01.04.2014)
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Journal Article
The European GWAS-identified risk SNP rs457717 within IQGAP2 is not associated with age-related hearing impairment in Han male Chinese population
Luo, Huajie, Wu, Hao, Shen, Hailian, Chen, Haifeng, Yang, Tao, Huang, Zhiwu, Jin, Xiaojie, Pang, Xiuhong, Li, Lei, Hu, Xianting, Jiang, Xuemei, Fan, Zhuping, LI, Jiping
Published in European archives of oto-rhino-laryngology (01.07.2016)
Published in European archives of oto-rhino-laryngology (01.07.2016)
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