Zobrazeno 1 - 10
of 111
pro vyhledávání: '"Ji-Hong Wu"'
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 9, Pp n/a-n/a (2023)
Abstract Background To identify the mutational spectrum in a Chinese cohort with congenital cataracts. Methods Probands (n = 164) with congenital cataracts and their affected or unaffected available family members were recruited for clinical examinat
Externí odkaz:
https://doaj.org/article/465d4dc710b34375a5754e9d506cce7c
Autor:
Ning Qu, Wei Li, Dong‐Ming Han, Jia‐Yu Gao, Zheng‐Tao Yang, Li Jiang, Tian‐Bin Liu, Yan‐Xian Chen, Xiao‐Sen Jiang, Liang Zhou, Ji‐Hong Wu, Xin Huang
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 9, Pp n/a-n/a (2022)
Abstract Purpose To expand the mutation spectrum of patients with familial exudative vitreoretinopathy (FEVR) disease. Participants 74 probands (53 families and 21 sporadic probands) with familial exudative vitreoretinopathy (FEVR) disease and their
Externí odkaz:
https://doaj.org/article/b9f921811bd747848a5bd9b88e321e66
Autor:
Wei Li, Xiao-Sen Jiang, Dong-Ming Han, Jia-Yu Gao, Zheng-Tao Yang, Li Jiang, Qian Zhang, Sheng-Hai Zhang, Ya Gao, Ji-Hong Wu, Jian-Kang Li
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Purposes: We aimed to characterize the USH2A genotypic spectrum in a Chinese cohort and provide a detailed genetic profile for Chinese patients with USH2A-IRD.Methods: We designed a retrospective study wherein a total of 1,334 patients diagnosed with
Externí odkaz:
https://doaj.org/article/46e9588553ea46c58d0e25819407f491
Autor:
Feng-Juan Gao, Dan-Dan Wang, Jian-Kang Li, Fang-Yuan Hu, Ping Xu, Fang Chen, Yu-He Qi, Wei Liu, Wei Li, Sheng-Hai Zhang, Qing Chang, Ge-Zhi Xu, Ji-Hong Wu
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background The retinoid isomerohydrolase RPE65 has received considerable attention worldwide since a successful clinical gene therapy was approved in 2017 as the first treatment for vision loss associated with RPE65-mediated inherited retina
Externí odkaz:
https://doaj.org/article/8758de29a81c4db8a9ca476c6c4960a9
Autor:
Hong-Li Liu, Feng-Guan Gao, Dan-Dan Wang, Fang-Yuan Hu, Ping Xu, Qing Chang, Ge-Zhi Xu, Ji-Hong Wu
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Purpose: The purpose of this study was to investigate the clinical and genetic characteristics of the retinitis pigmentosa GTPase regulatory factor gene (RPGR) in a Chinese cohort.Methods: A retrospective analysis was performed on 80 subjects with RP
Externí odkaz:
https://doaj.org/article/4543497f6ec549429a478741da2953c8
Autor:
Fang-Yuan Hu, Feng-Juan Gao, Jian-kang Li, Ping Xu, Dan-Dan Wang, Sheng-Hai Zhang, Ji-Hong Wu
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-10 (2020)
Abstract Background Stargardt disease (STGD1) is a common recessive hereditary macular dystrophy in early adulthood or childhood, with an estimated prevalence of 1:8000 to 1:10,000. ABCA4 is the causative gene for STGD1. The current study aims at ide
Externí odkaz:
https://doaj.org/article/d2513c580e5d454786a9d2c49ca42548
Autor:
Feng-Juan Gao, Guo-Hong Tian, Fang-Yuan Hu, Dan-Dan Wang, Jian-Kang Li, Qing Chang, Fang Chen, Ge-Zhi Xu, Wei Liu, Ji-Hong Wu
Publikováno v:
BMC Ophthalmology, Vol 20, Iss 1, Pp 1-8 (2020)
Abstract Background To report the clinical and genetic findings from seven Chinese patients with choroideremia. Methods Five hundred seventy-eight patients with a clinically suspected diagnosis of retinitis pigmentosa (RP) underwent comprehensive oph
Externí odkaz:
https://doaj.org/article/fdb9e4a02fec4be4b2a418a1eeb84475
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)
Abstract Background Stickler syndrome is the most common genetic cause of rhegmatogenous retinal detachment (RRD) in children, and has a high risk of blindness. Type I (STL1) is the most common subtype, caused by COL2A1 mutations. This study aims to
Externí odkaz:
https://doaj.org/article/a8ca613698664c7aae5d2e28e4e8fb41
Autor:
Feng-Juan Gao, Fang-Yuan Hu, Ping Xu, Yu-He Qi, Jian-Kang Li, Yong-Jin Zhang, Fang Chen, Qing Chang, Fang Song, Si-Mai Shen, Ge-Zhi Xu, Ji-Hong Wu
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-12 (2019)
Abstract Background Heimler syndrome (HS) is a rare hereditary systemic disorder, partial clinically overlapping with Usher syndrome. So far, our knowledge of HS is very limited, many cases are misdiagnosed or may not even be diagnosed at all. This s
Externí odkaz:
https://doaj.org/article/3ae7528d7f584d748109648bc37a583a
Publikováno v:
International Journal of Ophthalmology, Vol 12, Iss 11, Pp 1680-1687 (2019)
AIM: To detect how BRCA-associated protein 1 (BAP1) regulates cell migration in uveal melanoma (UM) cells. METHODS: Wound healing and transwell assays were performed to detect UM cell migration abilities. Protein chip, immunoprecipitations and surfa
Externí odkaz:
https://doaj.org/article/051b1eca8054497c985064a0db253c6d