Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Sha-sha Huang"'
Autor:
Tao-Yu Li, Wan-Li Liang, Yi-Ming Zhao, Wan-Dong Chen, Hong-Xia Zhu, Yuan-Yuan Duan, Han-Bo Zou, Sha-Sha Huang, Xiao-Jun Li, Wei Kevin Zhang
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
IntroductionPsoriasis, a persistent skin condition caused by the disorder of the immune system, impacts approximately 1.25 million individuals globally. Nevertheless, the presence of adverse effects in conventional clinical drugs necessitates further
Externí odkaz:
https://doaj.org/article/3cb5edae6d4e48b8965d8c6e472774f3
Autor:
Lang Zhang, Jin-Yuan Yang, Qiu-Quan Wang, Xue Gao, Guo-Jian Wang, Ming-Yu Han, Dong-Yang Kang, Dong-Yi Han, Sha-Sha Huang, Yong-Yi Yuan
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-10 (2024)
Abstract Background Mutations in MPZL2, the characteristic genetic etiology of autosomal recessive deafness loci 111 (DFNB111), cause non-syndromic and moderate sensorineural hearing loss. Methods In this study, we analyzed the phenotype and genotype
Externí odkaz:
https://doaj.org/article/9056a91342b84ef7b12cc530b53a6390
Autor:
Dejun Zhang, Jie Wu, Yongyi Yuan, Xiaohong Li, Xue Gao, Dongyang Kang, Xin Zhang, Sha-sha Huang, Pu Dai
Publikováno v:
Heliyon, Vol 10, Iss 6, Pp e27041- (2024)
Mitochondrial transfer RNA mutation is one of the most important causes of hereditary hearing loss in humans. Mitochondrial transfer RNASer (UCN) gene is another hot spot for mutations associated with non-syndromic hearing loss, besides the 12S ribos
Externí odkaz:
https://doaj.org/article/1796d39c7d98440f93dd6ec8d217980d
Autor:
Jin-Yuan Yang, Wei-Qian Wang, Ming-Yu Han, Sha-Sha Huang, Guo-Jian Wang, Yu Su, Jin-Cao Xu, Ying Fu, Dong-Yang Kang, Kun Yang, Xin Zhang, Xing Liu, Xue Gao, Yong-Yi Yuan, Pu Dai
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-16 (2022)
Abstract Pathogenic variants in MYO15A are known to cause autosomal recessive nonsyndromic hearing loss (ARNSHL), DFNB3. We have previously reported on one ARNSHL family including two affected siblings and identified MYO15A c.5964+3G > A and c.8375 T
Externí odkaz:
https://doaj.org/article/ee9185e4b81c4596b2cae7e39d7fd8bc
Autor:
Wei-Qian Wang, Xue Gao, Sha-Sha Huang, Dong-Yang Kang, Jin-Cao Xu, Kun Yang, Ming-Yu Han, Xin Zhang, Su-Yan Yang, Yong-Yi Yuan, Pu Dai
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Non-syndromic hearing loss (NSHL) is a common neurosensory disease with an extreme genetic heterogeneity which has been linked to variants in over 120 genes. The LOXHD1 gene (DFNB77), encoding lipoxygenase homology domain 1, is a rare hearing loss ge
Externí odkaz:
https://doaj.org/article/8200fee61a924fe18a3843265aff5619
Autor:
Xue Gao, Shi–Wei Qiu, Meng-Long Feng, Sha-Sha Huang, Dong-Yang Kang, Ming-Yu Han, Pu Dai, Yong–Yi Yuan
Publikováno v:
Stem Cell Research, Vol 48, Iss , Pp 101986- (2020)
Dominant deafness-onychodystrophy (DDOD) syndrome is a rare, autosomal dominant inherited disorder with no concrete therapies in human. We previously identified c.1516 C > T (p.Arg506*) in ATP6V1B2 as cause of DDOD syndrome, accounting for all cases
Externí odkaz:
https://doaj.org/article/6617e6dfada349a0b027e32c6915def3
Autor:
Chang Guo, Sha-Sha Huang, Yong-Yi Yuan, Ying Zhou, Ning Wang, Dong-Yang Kang, Su-Yan Yang, Xin Zhang, Xue Gao, Pu Dai
Publikováno v:
Neural Plasticity, Vol 2020 (2020)
Hereditary hearing loss is characterized by remarkable phenotypic heterogeneity. Patients with the same pathogenic mutations may exhibit various hearing loss phenotypes. In the Chinese population, the c.235delC mutation is the most common pathogenic
Externí odkaz:
https://doaj.org/article/932833f2b91448bcadea70c03445d1ae
Autor:
Tian-Yi Cui, Xue Gao, Sha-Sha Huang, Yan-Yan Sun, Si-Qi Zhang, Xin-Xia Jiang, Yan-Zhong Yang, Dong-Yang Kang, Qing-Wen Zhu, Yong-Yi Yuan
Publikováno v:
Neural Plasticity, Vol 2020 (2020)
Hereditary hearing loss is one of the most common sensory disabilities worldwide. Mutation of POU domain class 4 transcription factor 3 (POU4F3) is considered the pathogenic cause of autosomal dominant nonsyndromic hearing loss (ADNSHL), designated a
Externí odkaz:
https://doaj.org/article/ac137c3a20cc411b87e1e11faccad80d
Autor:
Yu Su, Xue Gao, Sha-Sha Huang, Jing-Ning Mao, Bang-Qing Huang, Jian-Dong Zhao, Dong-Yang Kang, Xin Zhang, Pu Dai
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-10 (2018)
Abstract Background Many X-linked non-syndromic hearing loss (HL) cases are caused by various mutations in the POU domain class 3 transcription factor 4 (POU3F4) gene. This study aimed to identify allelic variants of this gene in two Chinese families
Externí odkaz:
https://doaj.org/article/604998c83ad14c2fb6a45300b70057d4
Autor:
Xue Gao, Sha-Sha Huang, Yong-Yi Yuan, Jin-Cao Xu, Ping Gu, Dan Bai, Dong-Yang Kang, Ming-Yu Han, Guo-Jian Wang, Mei-Guang Zhang, Jia Li, Pu Dai
Publikováno v:
Neural Plasticity, Vol 2017 (2017)
Hereditary hearing loss is characterized by a high degree of genetic heterogeneity. Mutations in the TMPRSS3 (transmembrane protease, serine 3) gene cause prelingual (DFNB10) or postlingual (DFNB8) deafness. In our previous study, three pathogenic mu
Externí odkaz:
https://doaj.org/article/a871be126f0143e49418a14d2926ac3a