Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Hualei, Luo"'
Autor:
Yumeng Liu, Yuan Zhuang, Jianhong Chen, Zeyan Zhong, Jianpei Fang, Xinyu Li, Bin Xiao, Pingping Li, Bin Lin, Zhenzhong Tao, Yidan Liang, Peng Lin, Xingmin Wang, Mengyang Song, Hualei Luo, Lang Qin, Li Huang, Jufang Tan, Hailiang Li, Tianyu Zhong, Lian Yu, Zhixiang Liu, Deguo Tang, Yongzhong Zhao, Xinhua Zhang, Yuhua Ye, Xiangmin Xu
Publikováno v:
Haematologica, Vol 109, Iss 2 (2023)
Externí odkaz:
https://doaj.org/article/096f557d74da485f986a316ef5a57183
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 2, Pp n/a-n/a (2021)
Abstract Background Isolated sulfite oxidase deficiency (ISOD) is a life‐threatening rare autosomal recessive disorder caused by pathogenic variants in SUOX (OMIM 606887) gene. The aim of our study was to establish a comprehensive genetic diagnosis
Externí odkaz:
https://doaj.org/article/33acfdf6853c40c0b80e0ef71569408e
Autor:
Yuhua Ye, Guoying Sun, Zhe Ren, Yidan Liang, Hualei Luo, Peng Lin, Xingmin Wang, Zejun Dong, Li Huang, Lang Qin, Wenfang Yu, Ge Wang, Yuqiu Zhou, Jia Tang, Jiwu Lou, Yanhui Liu, Xianqi Zeng, Yajun Chen, Yihong Li, Qianqian Zhang
Publikováno v:
Journal of Clinical Pathology; Nov2023, Vol. 76 Issue 11, p784-789, 16p
Autor:
Xueqing Li, Shiqiang Li, Hualei Luo, Xueshan Xiao, Sainan Xiao, Yi Jiang, Xiaoyun Jia, Yingwei Wang, Jiamin Ouyang, Panfeng Wang, Qingjiong Zhang, Wenmin Sun
Publikováno v:
British Journal of Ophthalmology. 107:367-372
Background/aimsX-linked retinoschisis (XLRS), associated withRS1, is the most common type of X-linked retinopathy in children. This study aimed to identify clinical and genetic features of retinoschisis in 120 families withRS1variants in China.Method
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::04851ba5983774e3aa23d50ade05f73e
https://doi.org/10.1136/bjophthalmol-2021-319668
https://doi.org/10.1136/bjophthalmol-2021-319668
Autor:
Sainan Xiao, Wenmin Sun, Xueshan Xiao, Shiqiang Li, Hualei Luo, Xiaoyun Jia, Jiamin Ouyang, Xueqing Li, Yingwei Wang, Yi Jiang, Panfeng Wang, Qingjiong Zhang
Publikováno v:
British Journal of Ophthalmology; Mar2023, Vol. 107 Issue 3, p367-372, 6p
Publikováno v:
Cancer Management and Research. 12:1089-1100
Purpose The present study aimed to examine the effects of nicotinamide (NAM) on cervical cancer-associated fibroblasts (CAF) for its in vitro efficacy, gross inhibition, and mechanism of inhibition. Methods The fibroblasts were treated with pre-speci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::52d9e5b3add9222211f87b4700188eab
https://doi.org/10.2147/cmar.s229395
https://doi.org/10.2147/cmar.s229395
Autor:
Yuhua, Ye, Guoying, Sun, Zhe, Ren, Yidan, Liang, Hualei, Luo, Peng, Lin, Xingmin, Wang, Zejun, Dong, Li, Huang, Lang, Qin, Wenfang, Yu, Ge, Wang, Yuqiu, Zhou, Jia, Tang, Jiwu, Lou, Yanhui, Liu, Xianqi, Zeng, Yajun, Chen, Yihong, Li, Qianqian, Zhang, Jin, Huang, Ping, Zhu, Liang, Lin, Xinhua, Zhang, Xiangmin, Xu
Publikováno v:
Journal of clinical pathology.
Reactivation of embryonic ζ-globin is a promising strategy for genetic treatment of α-thalassaemia. However, quantification of ζ-globin as a quantitative trait in α-thalassaemia carriers and patients remains incompletely understood. In this study
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f000f21eee3709fabc6960161a2b94a1
https://pubmed.ncbi.nlm.nih.gov/36008105
https://pubmed.ncbi.nlm.nih.gov/36008105
Publikováno v:
Gene. 709:65-74
Background Autosomal recessive non-syndromic hearing loss (ARNSHL) is a highly heterogeneous genetic disease. PDZD7 is a new ARNSHL associated gene. Until now, nine PDZD7 biallelic mutation families with ARNSHL have been reported. Here we report a ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea23ffc8977141b0266b632531f2398c
https://doi.org/10.1016/j.gene.2019.05.045
https://doi.org/10.1016/j.gene.2019.05.045
Autor:
Sainan, Xiao, Wenmin, Sun, Xueshan, Xiao, Shiqiang, Li, Hualei, Luo, Xiaoyun, Jia, Jiamin, Ouyang, Xueqing, Li, Yingwei, Wang, Yi, Jiang, Panfeng, Wang, Qingjiong, Zhang
Publikováno v:
The British journal of ophthalmology.
X-linked retinoschisis (XLRS), associated withTotally, 79 hemizygous variants (53 missense, 25 truncation and 1 indel), were detected. All except one (78/79, 98.7%), including 22 novels, were classified as potential pathogenic and detected exclusivel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7fe83aaf5d3a4ff47872621618b681ce
https://pubmed.ncbi.nlm.nih.gov/34645606
https://pubmed.ncbi.nlm.nih.gov/34645606
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 2, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine, Vol 9, Iss 2, Pp n/a-n/a (2021)
Background Isolated sulfite oxidase deficiency (ISOD) is a life‐threatening rare autosomal recessive disorder caused by pathogenic variants in SUOX (OMIM 606887) gene. The aim of our study was to establish a comprehensive genetic diagnosis strategy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7e95ec0202e691112c83ad7f47c50f4
http://europepmc.org/articles/PMC8077164
http://europepmc.org/articles/PMC8077164