Zobrazeno 1 - 10
of 133
pro vyhledávání: '"Ruifang Sui"'
Publikováno v:
Diagnostics, Vol 13, Iss 19, p 3035 (2023)
X-linked juvenile retinoschisis (XLRS) is an inherited disorder characterized by retinal schisis cavities, which can be observed in optical coherence tomography (OCT) images. Monitoring disease progression necessitates the accurate segmentation and q
Externí odkaz:
https://doaj.org/article/8cbcb0c2f12b444c9044fa46b09d3bb3
Autor:
Xing Wei, Ruifang Sui
Publikováno v:
Sensors, Vol 23, Iss 6, p 3144 (2023)
Optical coherence tomography (OCT) is an emerging imaging technique for diagnosing ophthalmic diseases and the visual analysis of retinal structure changes, such as exudates, cysts, and fluid. In recent years, researchers have increasingly focused on
Externí odkaz:
https://doaj.org/article/2b7a250ca5204d6ca1c765beab8ef413
Publikováno v:
Stem Cell Research, Vol 60, Iss , Pp 102705- (2022)
Dominant optic atrophy (DOA) is one of the most common type of hereditary optic atrophy. Here, we describe the generation and characterization of a human induced pluripotent stem cell (hiPSC) line of DOA patient with an OPA1 mutation. The reprogrammi
Externí odkaz:
https://doaj.org/article/d7fd7eb2f03843759f0185934335501d
Publikováno v:
Stem Cell Research, Vol 59, Iss , Pp 102661- (2022)
Choroideremia (CHM) is a rare monogenic, X-linked recessive inherited chorioretinal dystrophy caused by loss of function variants in the CHM gene. We successfully generated a novel human induced pluripotent stem cell (hiPSC) line from a CHM patient w
Externí odkaz:
https://doaj.org/article/37f611c9aa594d388113a0c4ce1243ed
Publikováno v:
Stem Cell Research, Vol 59, Iss , Pp 102655- (2022)
RDH12 mutations have been identified in patients diagnosed with severe early-onset retinal dystrophy, including Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD). Here, we describe the generation and characterization o
Externí odkaz:
https://doaj.org/article/e8d76696ebd0402ba40483adfa99c2b8
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 18, Iss , Pp 1363-1382 (2020)
Usherin is the most common causative protein associated with autosomal recessive retinitis pigmentosa (RP) and Usher syndrome (USH), which are characterized by retinal degeneration alone and in combination with hearing loss, respectively. Usherin is
Externí odkaz:
https://doaj.org/article/5b7b34cd5fff4ced8fb4630e08ffd370
Publikováno v:
Stem Cell Research, Vol 55, Iss , Pp 102502- (2021)
Usher syndrome 2A (USH2A) is one of the most common genes associated with Usher syndrome type II (USH2) and nonsyndromic autosomal recessive retinitis pigmentosa (arRP). Here, we describe the generation and characterization of two human induced pluri
Externí odkaz:
https://doaj.org/article/52c6da94a6d8453ca81601e7b8518b47
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)
Abstract Background Nance-Horan syndrome (NHS) is an X-linked inheritance disorder characterized by bilateral congenital cataracts, and facial and dental dysmorphism. This disorder is caused by mutations in the NHS gene. However, NHS may be difficult
Externí odkaz:
https://doaj.org/article/621be683e6944b64ba347458cce97391
Publikováno v:
Stem Cell Research, Vol 53, Iss , Pp 102330- (2021)
Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessively inherited progressive retinal disease. Here, we describe the generation and characterization of a human induced pluripotent stem cell (hiPSC) line of BCD patient with CYP4V2
Externí odkaz:
https://doaj.org/article/7abbe08e8c4c48f2bef8c1100a06f152
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)
Abstract Background Sialidosis type 1 is a rare inherited disorder with a high disability. No genetically confirmed mainland Chinese patient with sialidosis type 1 has been reported. This study evaluated the phenotypes and genotypes of mainland Chine
Externí odkaz:
https://doaj.org/article/f80db6cf59b74bf08859d03af013a86b