Zobrazeno 1 - 10
of 81
pro vyhledávání: '"Lingyun, Mei"'
Autor:
Jing Liu, Yijiang Bai, Yong Feng, Xianlin Liu, Bo Pang, Shuai Zhang, Mengzhu Jiang, Anhai Chen, Huping Huang, Yongjia Chen, Jie Ling, Lingyun Mei
Publikováno v:
Redox Biology, Vol 74, Iss , Pp 103218- (2024)
The ABCC1 gene belongs to the ATP-binding cassette membrane transporter superfamily, which plays a crucial role in the efflux of various endogenous and exogenous substances. Mutations in ABCC1 can result in autosomal dominant hearing loss. However, t
Externí odkaz:
https://doaj.org/article/3419b384213d4917ac5d872ffc55dffd
Autor:
Anhai Chen, Jie Ling, Xin Peng, Xianlin Liu, Shuang Mao, Yongjia Chen, Mengyao Qin, Shuai Zhang, Yijiang Bai, Jian Song, Zhili Feng, Lu Ma, Dinghua He, Lingyun Mei, Chufeng He, Yong Feng
Publikováno v:
Clinical and Experimental Otorhinolaryngology, Vol 16, Iss 4, Pp 342-358 (2023)
Objectives. Branchio-oto syndrome (BOS) primarily manifests as hearing loss, preauricular pits, and branchial defects. EYA1 is the most common pathogenic gene, and splicing mutations account for a substantial proportion of cases. However, few studies
Externí odkaz:
https://doaj.org/article/c466b5735caf4d77b3a02bb09804c767
Autor:
Sijun Li, Mengyao Qin, Shuang Mao, Lingyun Mei, Xinzhang Cai, Yong Feng, Chufeng He, Jian Song
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-14 (2022)
Abstract Background Waardenburg syndrome (WS) is the most common form of syndromic deafness with phenotypic and genetic heterogeneity in the Chinese population. This study aimed to clarify the clinical characteristics and the genetic cause in eight C
Externí odkaz:
https://doaj.org/article/4f5f78041b61473cb8fd3850a8800cf4
Autor:
Mengzhu Jiang, Huping Huang, Lingyun Mei, Chufeng He, Xinzhang Cai, Lu Jiang, Hong Wu, Xin Wang, Xuewen Wu
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
BackgroundSudden sensorineural hearing loss (SSNHL) can cause great panic in patients. Whether it is advantageous to add intravenous batroxobin in the treatment of SSNHL remains to be determined. This study aimed to compare the short-term efficacy of
Externí odkaz:
https://doaj.org/article/ca82988a9512404089d2df7b5653ae40
Autor:
Xianlin Liu, Jie Wen, Xuezhong Liu, Anhai Chen, Sijun Li, Jing Liu, Jie Sun, Wei Gong, Xiaoming Kang, Zhili Feng, Chufeng He, Lingyun Mei, Jie Ling, Yong Feng
Publikováno v:
PLoS ONE, Vol 18, Iss 9, p e0288640 (2023)
The ELMOD3 gene is implicated in causing autosomal recessive/dominant non-syndromic hearing loss in humans. However, the etiology has yet to be completely elucidated. In this study, we generated a patient-derived iPSC line carrying ELMOD3 c.512A>G mu
Externí odkaz:
https://doaj.org/article/adce9d9495d24721b446265975dd91ca
Autor:
SiJun Li, Chufeng He, Qi Feng, YiJiang Bai, Xianlin Liu, Jie Ling, Lingyun Mei, XueWen Wu, Yong Feng, Jian Song
Publikováno v:
Stem Cell Research, Vol 64, Iss , Pp 102916- (2022)
The human induced pluripotent stem cell (iPSC) lines, CSUXHEi001-A and CSUXHEi002-A, were generated from peripheral blood mononuclear cells (PBMCs). The donors were couple and each of them has a heterozygous mutation in the SLC26A4 gene. It manifests
Externí odkaz:
https://doaj.org/article/c8de064f2f4642f5944652c8d821f60f
Autor:
Jie Wen, Jian Song, Yijiang Bai, Yalan Liu, Xinzhang Cai, Lingyun Mei, Lu Ma, Chufeng He, Yong Feng
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Waardenburg syndrome (WS) is an autosomal dominant inherited disorder that is characterized by sensorineural hearing loss and abnormal pigmentation. SOX10 is one of its main pathogenicity genes. The generation of patient-specific induced pluripotent
Externí odkaz:
https://doaj.org/article/1adc3bf5f8e643dea1e90683db2bf54c
Autor:
Jie Wen, Chufeng He, Yong Feng, Jian Song, Jing Liu, Xianlin Liu, Lingyun Mei, Jie Ling, Hongsheng Chen, Yalan Liu
Publikováno v:
Stem Cell Research, Vol 53, Iss , Pp 102300- (2021)
Waardenburg Syndrome (WS) is a common autosomal dominant syndrome associated with hearing loss. Its clinical manifestations include hearing impairment and pigmentation anomalies. In this study, we generated an induced pluripotent stem cell (iPSC) lin
Externí odkaz:
https://doaj.org/article/df4ec62de1d3443987b90f3e4e643567
Autor:
Jie Wen, Jian Song, Chufeng He, Jie Ling, Yalan Liu, Hongsheng Chen, Wei Gong, Lingyun Mei, Yong Feng
Publikováno v:
Stem Cell Research, Vol 51, Iss , Pp 102157- (2021)
Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural deafness. It has a variable presentation of pigmentation defects. Here, we generated an induced pluripotent stem cell (iPSC) line using episomal plasmid vectors from the f
Externí odkaz:
https://doaj.org/article/901c2150bfb8479d9161f725f0bd9c2d
Autor:
Shushan Sang, Jie Ling, Xuezhong Liu, Lingyun Mei, Xinzhang Cai, Taoxi Li, Wu Li, Meng Li, Jie Wen, Xianlin Liu, Jing Liu, Yalan Liu, Hongsheng Chen, Chufeng He, Yong Feng
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Autosomal recessive non-syndromic hearing loss (ARNSHL) is a highly heterogeneous disease involving more than 70 pathogenic genes. However, most ARNSHL families have small-sized pedigrees with limited genetic information, rendering challenges for the
Externí odkaz:
https://doaj.org/article/c3481aecf9c14acead4a940d80c7d4d1