Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Taoxi Li"'
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
Autor:
Lu Xia, Yalan Liu, Yaowen Zhang, Rongjuan Zhao, Yu Peng, Taoxi Li, Cenying Liu, Lu Shen, Jingjing Chen, Sanchuan Luo, Kun Xia
Publikováno v:
Journal of Psychiatric Research. 143:113-122
NRXN1 is involved in synaptogenesis and have been implicated in Autism spectrum disorders. However, many rare inherited missense variants of NRXN1 have not been thoroughly evaluated. Here, functional analyses in vitro and in Drosophila of three NRXN1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::120b1db0db6c36d46f0bad18adee6fa8
https://doi.org/10.1016/j.jpsychires.2021.09.013
https://doi.org/10.1016/j.jpsychires.2021.09.013
Autor:
Zhengmao Hu, Jia-Da Li, Jing Liu, Runyi Tian, Jie Ling, Denise Yan, Qi Tian, Chufeng He, Jian Song, Lu Jiang, Hongsheng Chen, Meng Li, Susan H. Blanton, Yifang Yi, Yong Feng, Xuezhong Liu, Yalan Liu, Taoxi Li, Xinzhang Cai, Chang Liu, Ximan Li, Lingyun Mei, Hong Wu
Publikováno v:
Genetics in Medicine. 21:2744-2754
To determine the genetic etiology of deafness in a family (HN-SD01) with autosomal dominant nonsyndromic hearing loss (NSHL). Stepwise genetic analysis was performed on family HN-SD01, including hotspot variant screening, exome sequencing, virtual he
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::549faa991af350954236c6985f4b14be
https://doi.org/10.1038/s41436-019-0594-y
https://doi.org/10.1038/s41436-019-0594-y
Autor:
Jing Liu, Denise Yan, Xianlin Liu, Sida Huang, Yong Feng, Jie Sun, Anhai Chen, Yalan Liu, Wu Li, Jiangang Gao, Jie Ling, Lingyun Mei, Taoxi Li, Xuezhong Liu
Publikováno v:
Hum Mol Genet
ELMOD3, an ARL2 GTPase-activating protein, is implicated in causing hearing impairment in humans. However, the specific role of ELMOD3 in auditory function is still far from being elucidated. In the present study, we used the CRISPR/Cas9 technology t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5ea8b597ba8e8d445cc27220b484c72
https://doi.org/10.1093/hmg/ddz240
https://doi.org/10.1093/hmg/ddz240
Autor:
Yalan Liu, Xiaoya Chen, Hongsheng Chen, Yuyuan Deng, Yong Feng, Jie Ling, Taoxi Li, Shushan Sang, Xinzhang Cai, Jie Wen, Wu Li, Lingyun Mei, Chufeng He, Meng Li
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 115:114-119
Objective To evaluate the accuracy and validity of our protocol for prenatal diagnosis and genetic counseling in high-risk families at a clinic. Methods Fifteen unrelated families with recessive nonsyndromic hearing loss (NSHL) in their family histor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9ed9b326f57a62f724e48c01abce303
https://doi.org/10.1016/j.ijporl.2018.08.026
https://doi.org/10.1016/j.ijporl.2018.08.026
Publikováno v:
Proceedings of the ACM on Human-Computer Interaction. 2:1-28
Support from family members is an important determinant of health. In this work, we probe opportunities for facilitating family support with TableChat, a chat-based mobile application for food journaling. Leveraging food as a test case of family supp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f6856be79d12cccec643cc18f16a992a
https://doi.org/10.1145/3274383
https://doi.org/10.1145/3274383
Autor:
Jia-Da Li, Xue Zhong Liu, Meng Li, Denise Yan, Prem P. Chapagain, Zhengqing Wan, Hongsheng Chen, Jie Sun, Chufeng He, Yong Feng, Elodie Richard, Haibo Li, Jie Ling, Zhijie Niu, Yalan Liu, Jie Wen, Wu Li, Lingyun Mei, Yuyuan Deng, Shushan Sang, Taoxi Li, Meichao Men
Publikováno v:
Human Genetics. 137:329-342
Autosomal dominant nonsyndromic hearing loss (ADNSHL) is a highly genetically heterogeneous disorder. Up to date only approximately 37 ADNSHL-causing genes have been identified. The goal of this study was to determine the causative gene in a five-gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a1cdb901f5333f1505094b0624cfff8
https://doi.org/10.1007/s00439-018-1885-0
https://doi.org/10.1007/s00439-018-1885-0
Autor:
Jie Wen, Jing Liu, Wu Li, Xiaoya Chen, Jian Song, Jie Ling, Shushan Sang, Zhijie Niu, Yong Feng, Hongsheng Chen, Yalan Liu, Chufeng He, Meng Li, Jia-Da Li, Yuyuan Deng, Taoxi Li, Xuezhong Liu, Meichao Men
Publikováno v:
Gene. 704
Usher syndrome (USH) is a clinically common autosomal recessive disorder characterized by retinitis pigmentosa (RP) and sensorineural hearing loss with or without vestibular dysfunction. In this study, we identified a Hunan family of Chinese descent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38fbc53fdde3b916d337f822ea88f3b6
https://pubmed.ncbi.nlm.nih.gov/30974196
https://pubmed.ncbi.nlm.nih.gov/30974196
Autor:
Jie Wen, Wu Li, Meng Li, Lingyun Mei, Yuyuan Deng, Zhijie Niu, Yalan Liu, Xuewei Zhang, Chufeng He, Yong Feng, Shushan Sang, Xinzhang Cai, Hongsheng Chen, LiangLiang Fan, Taoxi Li, Jie Ling
Publikováno v:
Journal of human genetics. 63(6)
X-linked inheritance is very rare and is estimated to account for only 1–5% of all nonsyndromic hearing loss cases. We found a multiplex family from China segregating with X-linked nonsyndromic hearing loss. After exclusive analysis of 10 common va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::128a95df2fd0ddac27f28e0937544f11
https://pubmed.ncbi.nlm.nih.gov/29559740
https://pubmed.ncbi.nlm.nih.gov/29559740
Autor:
Li, Wu, Feng, Yong, Chen, Anhai, Li, Taoxi, Huang, Sida, Liu, Jing, Liu, Xianlin, Liu, Yalan, Gao, Jiangang, Yan, Denise, Sun, Jie, Mei, Lingyun, Liu, Xuezhong, Ling, Jie
Publikováno v:
Human Molecular Genetics; 12/15/2019, Vol. 28 Issue 24, p4103-4112, 10p