Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Dong Yang Kang"'
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:
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:
Kun Yang, Xi Wang, Wei‐Qian Wang, Ming‐Yu Han, Li‐Min Hu, Dong‐Yang Kang, Jin‐Yuan Yang, Min Liu, Xue Gao, Yong‐Yi Yuan, Jin‐Cao Xu
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 3, Pp n/a-n/a (2023)
Abstract Background Myhre syndrome is a rare multisystem genetic disorder that is caused by de novo heterozygous gain‐of‐function variants in SMAD4. Patients with Myhre syndrome exhibit several phenotypes at different ages such as small size, aut
Externí odkaz:
https://doaj.org/article/72523bacc75d4f989e2a04bb15ec1358
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
Publikováno v:
Stem Cell Research, Vol 53, Iss , Pp 102271- (2021)
Dominant deafness-onychodystrophy (DDOD) syndrome is a rare autosomal dominant disorder caused by mutations in ATP6V1B2 gene. We previously generated an induced pluripotent stem cell (iPSC) line (CPGHi002-A) from a DDOD patient with a heterozygous c.
Externí odkaz:
https://doaj.org/article/db76a8537ba844f3a529544e20e312f3
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
Publikováno v:
Environmental Biology Research. 40:651-659
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::07093b6f8979f5a83d738f31f3ee75d8
https://doi.org/10.11626/kjeb.2022.40.4.651
https://doi.org/10.11626/kjeb.2022.40.4.651