Zobrazeno 1 - 10
of 105
pro vyhledávání: '"Dongyang, Kang"'
Autor:
Haifeng Feng, Shasha Huang, Ying Ma, Jinyuan Yang, Yijin Chen, Guojian Wang, Mingyu Han, Dongyang Kang, Xin Zhang, Pu Dai, Yongyi Yuan
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background Hearing loss (HL) is the most common sensory birth deficit worldwide, with causative variants in more than 150 genes. However, the etiological contribution and clinical manifestations of X-linked inheritance in HL remain unclear w
Externí odkaz:
https://doaj.org/article/692e7f1966154a87b7be9644b1de4a3f
Autor:
Xue Gao, Weiqian Wang, Jincao Xu, Shasha Huang, Kun Yang, Jinyuan Yang, Yijin Chen, Guojian Wang, Mingyu Han, Zhendong Wang, Dongyang Kang, Yongyi Yuan, Pu Dai
Publikováno v:
Genes and Diseases, Vol 11, Iss 4, Pp 101018- (2024)
Externí odkaz:
https://doaj.org/article/c153ef6cad8e4a96b396ebe4bca7d10c
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
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-5 (2022)
Abstract Background The mitochondrial 12S rRNA A1555G mutation is the most prevalent deafness-causing mitochondrial DNA (mtDNA) mutation and is inherited maternally. Studies have suggested that A1555G mutations have multiple origins, although there i
Externí odkaz:
https://doaj.org/article/22567e5754b541d2a2128b6db4f6a3be
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-32 (2022)
Abstract Background Mutations in the MYO15A gene are a widely recognized cause of autosomal recessive non-syndromic sensorineural hearing loss (NSHL) globally. Here, we examined the role and the genotype–phenotype correlation of MYO15A variants in
Externí odkaz:
https://doaj.org/article/1b643365b4b6485ca558e8e9a523319a
Autor:
Xiaohong Li, Xue Gao, Shasha Huang, Mingyu Han, Dongyang Kang, Jinyuan Yang, Xiedong Wu, Qiuchen Zheng, Yongyi Yuan, Pu Dai, Guojian Wang
Publikováno v:
Stem Cell Research, Vol 62, Iss , Pp 102831- (2022)
Mutations of SOX10 result in Waardenburg syndrome characterized by sensorineural hearing loss and pigmentary abnormalities, which can be found in association with a defect of migrating neural crest cells. The role of SINE-VNTR-Alu (SVA) retrotranspos
Externí odkaz:
https://doaj.org/article/53afab8eaaa146c3bf786c1249254a5d
Autor:
Weihao Zhao, Xue Gao, Shiwei Qiu, Bo Gao, Song Gao, Xin Zhang, Dongyang Kang, Weiju Han, Pu Dai, Yongyi Yuan
Publikováno v:
EBioMedicine, Vol 45, Iss , Pp 408-421 (2019)
Background: Dominant deafness-onychodystrophy (DDOD) syndrome is a rare disorder mainly characterized by severe deafness, onychodystrophy and brachydactyly. We previously identified c.1516C > T (p.Arg506X) in ATP6V1B2 as cause of DDOD syndrome, accou
Externí odkaz:
https://doaj.org/article/e86f0948c6a5451bb067d3ac5d8e3ba3
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 12, Pp n/a-n/a (2020)
Abstract Background Waardenburg syndrome (WS) is a highly clinically and genetically heterogeneous disease. The core disease phenotypes of WS are sensorineuronal hearing loss and pigmentary disturbance, which are usually caused by the absence of neur
Externí odkaz:
https://doaj.org/article/992ef3fec5e34881b825b5c5f27ef79d
Publikováno v:
Micro and Nano Systems Letters, Vol 6, Iss 1, Pp 1-7 (2018)
Abstract Thanks to the excellent barrier property and fabrication accessibility, Parylene has been actively used in the microelectromechanical system. An ultra-thin Parylene film with thickness smaller than 100 nm is usually required to precisely tun
Externí odkaz:
https://doaj.org/article/fcc600d1745f4d47a38269d681ae9208
Autor:
Xiaohong Li, Shasha Huang, Guojian Wang, Dongyang Kang, Mingyu Han, Xiedong Wu, Jinyuan Yang, Qiuchen Zheng, Chaoyue Zhao, Yongyi Yuan, Pu Dai
Publikováno v:
Human Genetics. 142:419-430
Waardenburg syndrome (WS) is a rare inherited autosomal dominant disorder caused by SOX10, PAX3, MITF, EDNRB, EDN3, and SNAI2. A large burden of pathogenic de novo variants is present in patients with WS, which may be derived from parental mosaicism.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::146d29b63766081a17d985b601c97fad
https://doi.org/10.1007/s00439-022-02517-x
https://doi.org/10.1007/s00439-022-02517-x