Results 21 to 30 of about 5,172,195 (247)

Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene

Stem Cell Research, 2021
Stargardt disease (STGD1) is the most common inherited retinal dystrophy and ABCA4 c.546-–10 T>C is the most commonly reported splice mutation. Here, we generated and characterized two induced pluripotent stem cell (iPSC) lines from a STGD1 patient with ...
Di Huang, Dan Zhang, Shang-Chih Chen, May Thandar Aung-Htut, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, John N. De Roach, Sue Fletcher, Steve D Wilton, Fred K. Chen, Samuel McLenachan   +11 more
doaj   +1 more source

Generation of the induced pluripotent stem cell line from a patient with autosomal recessive ABCA4-mediated Stargardt Macular Dystrophy

Stem Cell Research, 2019
We report the generation of the human iPSC line LEIi007-A from a patient with autosomal recessive Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene (c.[5461-10 T > C];[4139C > T]).
Johann N. Claassen, Dan Zhang, Shang-Chih Chen, Sang Yoon Moon, Tina Lamey, Jennifer A. Thompson, Terri McLaren, John N. De Roach, Samuel McLenachan, Fred K. Chen   +9 more
doaj   +1 more source

Mutation in the guanine nucleotide-binding protein beta-3 causes retinal degeneration and embryonic mortality in chickens [PDF]

, 2006
PURPOSE. To identify the gene defect that causes blindness and the predisposition to embryonic death in the retinopathy globe enlarged (rge) chicken.METHODS. Linkage analysis, with previously uncharacterized microsatellite markers from chicken chromosome
Hocking, Paul M., Tummala, Hemanth, Getty, Paul, Ali, Manir, Burt, David W., Inglehearn, Chris F., Lester, Douglas H.   +6 more
core   +1 more source

Gene Therapy to the Retina and the Cochlea

Frontiers in Neuroscience, 2021
Vision and hearing disorders comprise the most common sensory disorders found in people. Many forms of vision and hearing loss are inherited and current treatments only provide patients with temporary or partial relief.
Ryan Crane, Shannon M. Conley, Shannon M. Conley, Muayyad R. Al-Ubaidi, Muayyad R. Al-Ubaidi, Muayyad R. Al-Ubaidi, Muna I. Naash, Muna I. Naash, Muna I. Naash   +8 more
doaj   +1 more source

Generation of an induced pluripotent stem cell line from a patient with retinitis pigmentosa caused by RP1 mutation

Stem Cell Research, 2019
We report the generation of the iPSC line LEIi005-B from a patient with retinitis pigmentosa caused by a dominant nonsense mutation in the RP1 gene (c.2098G>T p.E700X).
Xiao Zhang, Sang Yoon Moon, Dan Zhang, Shang-Chih Chen, Tina Lamey, Jennifer A. Thompson, Terri McLaren, John N. De Roach, Samuel McLenachan, Fred K. Chen   +9 more
doaj   +1 more source

Exposure to the complement C5b-9 complex sensitizes 661W photoreceptor cells to both apoptosis and necroptosis. [PDF]

, 2015
The loss of photoreceptors is the defining characteristic of many retinal degenerative diseases, but the mechanisms that regulate photoreceptor cell death are not fully understood.
Dimitrios Stampoulis, M. Francesca Cordeiro, Williams, JA, Jennifer A. E. Williams, Stampoulis, D, Li Guo, Shi, H, Guo, L, Moss, SE, Francesca Cordeiro, M, Stephen E. Moss, Hui Shi   +11 more
core   +1 more source

Generation of an induced pluripotent stem cell line from a patient with non-syndromic CLN3-associated retinal degeneration and a coisogenic control line

Stem Cell Research, 2018
We report the generation of the human iPSC line LEIi004-A from a patient with late-onset non-syndromic retinitis pigmentosa caused by compound heterozygous mutations in the CLN3 gene.
Xiao Zhang, Dan Zhang, Shang-Chih Chen, Tina Lamey, Jennifer A. Thompson, Terri McLaren, John N. De Roach, Fred K. Chen, Samuel McLenachan   +8 more
doaj   +1 more source

Drug Discovery Strategies for Inherited Retinal Degenerations

Biology, 2022
Inherited retinal degeneration is a group of blinding disorders afflicting more than 1 in 4000 worldwide. These disorders frequently cause the death of photoreceptor cells or retinal ganglion cells.
Arupratan Das, Yoshikazu Imanishi
doaj   +1 more source

Diagnosis of inherited retinal diseases

, 2021
Inherited retinal diseases are a frequent cause of severe visual impairment or blindness in children and adults of working age. Across this group of diseases, there is great variability in the degree of visual impairment, the impact on everyday life ...
Imran H. Yusuf, Charbel Issa, Peter, Johannes Birtel, Yusuf, Imran, Birtel, Johannes, Rudolph, Günter, Günter Rudolph, Priglinger, Claudia, Peter Charbel Issa, Claudia Priglinger   +9 more
core   +1 more source

Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype [PDF]

, 2011
Retinitis Pigmentosa (RP) is a group of heterogeneous retinal degenerative diseases that predominantly affect rod photoreceptor cells. Symptoms include night blindness and gradual peripheral vision loss, which progresses to a complete loss of vision ...
Akinyi, Maureen Veronica
core   +1 more source