Zobrazeno 1 - 10
of 57
pro vyhledávání: '"Feng-Juan Gao"'
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:
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:
Frontiers in Bioengineering and Biotechnology, Vol 8 (2020)
Retina is a crucial tissue for capturing and processing light stimulus. It is critical to describe the characteristics of retina at the single-cell level for understanding its biological functions. A variety of abnormalities in terms of morphology an
Externí odkaz:
https://doaj.org/article/6fc4c260f23c4bc2bed0104b1ace4acb
Autor:
Jian-Kang Li, Li‐Li Li, Wei Li, Zi‐Wei Wang, Feng‐Juan Gao, Fang-Yuan Hu, Sheng‐Hai Zhang, Shou-Fang Qu, Jie Huang, Lu-Sheng Wang, Ji-Hong Wu, Fang Chen
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Abstract Background Age‐related cataracts (ARC) is the most common blinding eye disease worldwide, and its incidence tend to become younger. However, the relationship between genetic factors and mechanisms is not fully understood. The aim of the st
Externí odkaz:
https://doaj.org/article/5cee1cc2521841c28e4ccded37982c50
Autor:
Dan-Dan Wang, Fang-Yuan Hu, Feng-Juan Gao, Sheng-Hai Zhang, Ping Xu, Guo-Hong Tian, Ji-Hong Wu
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Purpose: To explore a method for the early, rapid and accurate diagnosis of Wolfram syndrome 1 (WS1) and further enrich the spectrum of WFS1 mutations in the Chinese population.Methods: We analyzed 279 patients with unexplained optic atrophy using ne
Externí odkaz:
https://doaj.org/article/cabb32470ca2431893493bc5155cb9d9
ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants
Autor:
Fang-Yuan Hu, Jian-kang Li, Feng-Juan Gao, Yu-He Qi, Ping Xu, Yong-Jin Zhang, Dan-Dan Wang, Lu-Sheng Wang, Wei Li, Min Wang, Fang Chen, Si-Mai Shen, Ge-Zhi Xu, Sheng-Hai Zhang, Qing Chang, Ji-Hong Wu
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Purpose: To clarify the mutation spectrum and frequency of ABCA4 in a Chinese cohort with Stargardt disease (STGD1).Methods: A total of 153 subjects, comprising 25 families (25 probands and their family members) and 71 sporadic cases, were recruited
Externí odkaz:
https://doaj.org/article/34a34f626dd640278fdefebd11eabd9b
Autor:
Ji-hong Wu, Sheng-hai Zhang, John M. Nickerson, Feng-juan Gao, Zhongmou Sun, Xin-ya Chen, Shu-jie Zhang, Rong Zhang, Feng Gao, Jun-yi Chen, Yi Luo, Yan Wang, Xing-huai Sun
Publikováno v:
Neurobiology of Disease, Vol 74, Iss , Pp 167-179 (2015)
Glaucoma is a chronic neurodegenerative disease characterized by the progressive loss of retinal ganglion cells (RGCs). Mitochondrial DNA (mtDNA) alterations have been documented as a key component of many neurodegenerative disorders. However, whethe
Externí odkaz:
https://doaj.org/article/b05506bbde214155b6e48c4c6a109a16