Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Pei-Yin Su"'
Autor:
Masha Kolesnikova, Jin Kyun Oh, Jiali Wang, Winston Lee, Jana Zernant, Pei-Yin Su, Angela H. Kim, Laura A. Jenny, Tingting Yang, Rando Allikmets, Stephen H. Tsang
Publikováno v:
JCI Insight, Vol 7, Iss 23 (2022)
Here, we describe affected members of a 2-generation family with a Stargardt disease–like phenotype caused by a 2–base pair deletion insertion, c.1014_1015delGAinsCT;p.(Trp338_Asn339delinsCysTyr), in BEST1. The variant was identified by whole-exo
Externí odkaz:
https://doaj.org/article/b1ea07fb114f4f45bb36d52b2774c97f
Autor:
Pei-Yin Su, Winston Lee, Jana Zernant, Stephen H. Tsang, Takayuki Nagasaki, Barbara Corneo, Rando Allikmets
Publikováno v:
Stem Cell Research, Vol 65, Iss , Pp 102973- (2022)
Pathogenic variation in the ABCA4 gene is the underlying cause of Stargardt disease, the most common inherited retinal degeneration. We established an induced pluripotent stem cell line for retinal organoid research from a patient with mild disease f
Externí odkaz:
https://doaj.org/article/3466a8aac76a4a1885d5099bcb0e51e1
Autor:
Jana Zernant, Winston Lee, Jun Wang, Kerry Goetz, Ehsan Ullah, Takayuki Nagasaki, Pei-Yin Su, Gerald A Fishman, Stephen H Tsang, Santa J Tumminia, Brian P Brooks, Robert B Hufnagel, Rui Chen, Rando Allikmets
Publikováno v:
PLoS Genetics, Vol 18, Iss 3, p e1010129 (2022)
Over 1,500 variants in the ABCA4 locus cause phenotypes ranging from severe, early-onset retinal degeneration to very late-onset maculopathies. The resulting ABCA4/Stargardt disease is the most prevalent Mendelian eye disorder, although its underlyin
Externí odkaz:
https://doaj.org/article/16ae8541b56c4895996794e432314265
Publikováno v:
JCI Insight, Vol 7, Iss 2 (2022)
Background More than 1500 variants in the ATP-binding cassette, sub-family A, member 4 (ABCA4), locus underlie a heterogeneous spectrum of retinal disorders ranging from aggressive childhood-onset chorioretinopathy to milder late-onset macular diseas
Externí odkaz:
https://doaj.org/article/3cf870671925428990b2eefd46192d1a
Autor:
Pei-Yin Su, 蘇佩吟
99
Age-related macular degeneration (AMD) is the leading cause of blindness in developed countries. Chronic oxidative stress and the accumulation of lipofuscin with age in retinal pigment epithelial (RPE) cells play pivotal role in the pathogene
Age-related macular degeneration (AMD) is the leading cause of blindness in developed countries. Chronic oxidative stress and the accumulation of lipofuscin with age in retinal pigment epithelial (RPE) cells play pivotal role in the pathogene
Externí odkaz:
http://ndltd.ncl.edu.tw/handle/02922204082568253084
Autor:
Winston, Lee, Pei-Yin, Su, Jana, Zernant, Takayuki, Nagasaki, Stephen H, Tsang, Rando, Allikmets
Publikováno v:
Ophthalmology Retina. 6:847-860
To describe the longitudinal progression and phenotypic association of bilateral foveomacular vitelliform lesions in the setting of ABCA4 disease.Case report and cross-sectional cohort study.Nineteen patients with confirmed ABCA4 disease exhibiting a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abd74e5e35aa1c5df181c0dd89f5f24f
https://doi.org/10.1016/j.oret.2022.04.005
https://doi.org/10.1016/j.oret.2022.04.005
Publikováno v:
JCI insight. 7(2)
BackgroundMore than 1500 variants in the ATP-binding cassette, sub-family A, member 4 (ABCA4), locus underlie a heterogeneous spectrum of retinal disorders ranging from aggressive childhood-onset chorioretinopathy to milder late-onset macular disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f1531256508854a9d32677cd773d398
https://pubmed.ncbi.nlm.nih.gov/34874912
https://pubmed.ncbi.nlm.nih.gov/34874912
Autor:
Jana Zernant, Winston Lee, Jun Wang, Kerry Goetz, Ehsan Ullah, Takayuki Nagasaki, Pei-Yin Su, Gerald A. Fishman, Stephen H. Tsang, Santa J. Tumminia, Brian P. Brooks, Robert B. Hufnagel, Rui Chen, Rando Allikmets
Publikováno v:
PLoS genetics. 18(3)
Over 1,500 variants in the ABCA4 locus cause phenotypes ranging from severe, early-onset retinal degeneration to very late-onset maculopathies. The resulting ABCA4/Stargardt disease is the most prevalent Mendelian eye disorder, although its underlyin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ac3602e3dd542120213707bbbd8b123
https://pubmed.ncbi.nlm.nih.gov/35353811
https://pubmed.ncbi.nlm.nih.gov/35353811
Autor:
Chia-Hua Cheng, Stephen H. Tsang, Kam W. Leong, Joseph Ryu, Yong-Shi Li, Yi-Ting Tsai, Pei-Yin Su, Yao Li, Wen-Hsuan Wu, Peter M Quinn
Publikováno v:
Am J Hum Genet
Macular degeneration (MD) is characterized by the progressive deterioration of the macula and represents one of the most prevalent causes of blindness worldwide. Abnormal intracellular accumulation of lipid droplets and pericellular deposits of lipid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c571b1e556271fd8313c7e5f15c66e2
https://europepmc.org/articles/PMC8206198/
https://europepmc.org/articles/PMC8206198/
Autor:
Rando Allikmets, Yan Nuzbrokh, Janet R. Sparrow, Pei-Yin Su, Jana Zernant, Stephen H. Tsang, Ruben Jauregui
Publikováno v:
Translational Vision Science & Technology
Purpose To compare the detection of retinal pigment epithelium (RPE) atrophy in short-wavelength (SW-AF) and near-infrared autofluorescence (NIR-AF) images in Stargardt disease (STGD1) patients. Methods SW-AF and NIR-AF images (115 eyes from 115 pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1224defab9aa8a9e1a9d85cef68fec4e
http://europepmc.org/articles/PMC7794276
http://europepmc.org/articles/PMC7794276