Results 11 to 20 of about 5,172,195 (247)

Inherited Retinal Disease Therapies Targeting Precursor Messenger Ribonucleic Acid [PDF]

Vision, 2017
Inherited retinal diseases are an extremely diverse group of genetically and phenotypically heterogeneous conditions characterized by variable maturation of retinal development, impairment of photoreceptor cell function and gradual loss of photoreceptor ...
Di Huang, Sue Fletcher, Steve D. Wilton, Norman Palmer, Samuel McLenachan, David A. Mackey, Fred K. Chen   +6 more
doaj   +4 more sources

Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci [PDF]

Genome Biology
Background Vision depends on the interplay between photoreceptor cells of the neural retina and the underlying retinal pigment epithelium (RPE). Most genes involved in inherited retinal diseases display specific spatiotemporal expression within these ...
Eva D’haene, Víctor López-Soriano, Pedro Manuel Martínez-García, Soraya Kalayanamontri, Alfredo Dueñas Rey, Ana Sousa-Ortega, Silvia Naranjo, Stijn Van de Sompele, Lies Vantomme, Quinten Mahieu, Sarah Vergult, Ana Neto, José Luis Gómez-Skarmeta, Juan Ramón Martínez-Morales, Miriam Bauwens, Juan Jesús Tena, Elfride De Baere   +16 more
doaj   +2 more sources

Retinal organoids provide unique insights into molecular signatures of inherited retinal disease throughout retinogenesis [PDF]

, 2022
\ua9 2022 The Authors. Journal of Anatomy published by John Wiley & Sons Ltd on behalf of Anatomical Society. The demand for induced pluripotent stem cells (iPSC)-derived retinal organoid and retinal pigment epithelium (RPE) models for the modelling ...
Watson A, Lako M
core   +4 more sources

New variants and in silico analyses in GRK1 associated Oguchi disease [PDF]

, 2020
Biallelic mutations in G‐Protein coupled receptor kinase 1 (GRK1) cause Oguchi disease, a rare subtype of congenital stationary night blindness (CSNB). The purpose of this study was to identify disease causing GRK1 variants and use in‐depth bioinformatic
De Baere, Elfride, Donnelly, Dan, Ansar, M., Poulter, J.A., Gravett, Molly, Ansar, Muhammad, Black, Graeme C. M., Poulter, JA, Khan, K.N., Leroy, Bart P., Henderson, Robert H., Hayashi, T., De Zaeytijd, J, UK Inherited Retinal Disease Consortium, Henderson, Robert, McKibbin, M., Arno, G., Ali, M, Poulter, James A., Bellingham, James, U. K. Inherited Retinal Disease Consortium,, Kondo, M., Genomics England Research Consortium, Inglehearn, Chris F., Rehman, Abdur, Davies, NP, Henderson, RH, Taylor, Rachel L, Leroy, B.P., Webster, A.R., Fujinami, Kaoru, Taylor, RL, Hayashi, T, Henderson, R.H., Bellingham, J, Toomes, Carmel, Mahroo, Omar A., Donnelly, D., Harris, S.A., Leroy, BP, Hayashi, Takaaki, Davies, N.P., Webster, AR, Rivolta, Carlo, Rivolta, C, De Zaeytijd, Julie, Inglehearn, C.F., Inglehearn, CF, Rehman, A, Harris, SA, Khan, Kamron N., Harris, Sarah A., Leroy, Bart P, Mahroo, OA, Rivolta, C., Black, GCM, Mahroo, O.A., De Baere, E., Arno, Gavin, Ali, Manir, Zaeytijd, Julie De, Harris, Sarah, McKibbin, M, Zeitz, C., Fujinami, K, Davies, Nigel P., Davies, Nigel, Toomes, C., Fujinami, K., Donnelly, D, McKibbin, Martin, Taylor, R.L., Rehman, AU, Taylor, Rachel L., Ansar, M, Bellingham, J., Black, Graeme, De Zaeytijd, J., Toomes, C, De Baere, E, Khan, KN, Kondo, Mineo, Rehman, A.U., Ali, M., Kondo, M, Webster, Andrew R., Gravett, Molly S. C., Gravett, MSC, Rehman, A., Inglehearn, Chris F, Rehman, Atta Ur, Arno, G   +91 more
core   +1 more source

Inherited retinal diseases in Norway - Studies on phenotype and genotype characteristics

, 2021
Inherited retinal diseases are a leading cause of vision loss in children and young adults. The majority of inherited retinal diseases are untreatable, consequently leading to irreversible retinal damage and blindness.
Holtan, Josephine Prener
core   +2 more sources

Topographic mapping of retinal function with the SLO-mfERG under simultaneous control of fixation in Best's disease [PDF]

, 2003
Purpose: To introduce the scanning laser ophthalmoscope-evoked mfERG (SLO-mfERG) as a new method to measure focal retinal function. Methods: Sixty-two healthy individuals and 12 patients with Best's disease were examined.
Kalpadakis, P., Rudolph, G.
core   +1 more source

Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management. [PDF]

Ophthalmology, 2023
To describe the largest, most phenotypically and genetically diverse cohort of patients with inherited retinal disease (IRD)-related Coats-like vasculopathy (CLV). Multicenter retrospective cohort study.
Daich Varela M, Conti GM, Malka S, Vaclavik V, Mahroo OA, Webster AR, Tran V, Michaelides M.   +7 more
europepmc   +2 more sources

Establishment of an induced pluripotent stem cell line from a retinitis pigmentosa patient with compound heterozygous CRB1 mutation

Stem Cell Research, 2018
The human iPSC line LEIi006-A was generated from dermal fibroblasts from a patient with retinitis pigmentosa using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for p53.
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

Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations

Stem Cell Research, 2019
Variants in RCBTB1 have been implicated in inherited retinal disease (IRD). Here, we generated induced pluripotent stem cells (iPSCs) from a 45-year-old female IRD patient harbouring compound heterozygous mutations in the RCBTB1 gene.
Zhiqin Huang, Dan Zhang, Shang-Chih Chen, Jennifer A. Thompson, Terri McLaren, Tina Lamey, John N. De Roach, Samuel McLenachan, Fred K. Chen   +8 more
doaj   +1 more source

Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461–10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene

Stem Cell Research, 2021
Mutations in ABCA4 gene are causative for autosomal recessive Stargardt disease (STGD1), the most common inherited retinal dystrophy. Here, we report the generation of an induced pluripotent stem cell (iPSC) line from a STGD1 patient carrying biallelic c.
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, Samuel McLenachan, Fred K. Chen   +11 more
doaj   +1 more source