Results 31 to 40 of about 9,513 (213)

CrxRdy cat: A large animal model for CRX-associated Leber congenital amaurosis [PDF]

, 2016
PURPOSE: Mutations in the retinal transcription factor cone-rod homeobox (CRX) gene result in severe dominant retinopathies. A large animal model, the Rdy cat, carrying a spontaneous frameshift mutation in Crx, was reported previously.
Chen, Shiming, Narfstrom, Kristina, Occelli, Laurence M, Peteresen-Jones, Simon M, Tran, Nicholas M   +4 more
core   +3 more sources

A CEP290 C-Terminal Domain Complements the Mutant CEP290 of Rd16 Mice In Trans and Rescues Retinal Degeneration

Cell Reports, 2018
Summary: Mutations in CEP290 cause ciliogenesis defects, leading to diverse clinical phenotypes, including Leber congenital amaurosis (LCA). Gene therapy for CEP290-associated diseases is hindered by the 7.4 kb CEP290 coding sequence, which is difficult ...
Suddhasil Mookherjee, Holly Yu Chen, Kevin Isgrig, Wenhan Yu, Suja Hiriyanna, Rivka Levron, Tiansen Li, Peter Colosi, Wade Chien, Anand Swaroop, Zhijian Wu   +10 more
doaj   +1 more source

Antisense oligonucleotide-based splicing correction in individuals with leber congenital amaurosis due to compound heterozygosity for the c.2991+1655A>G mutation in CEP290 [PDF]

, 2018
Leber congenital amaurosis (LCA) is a rare inherited retinal disorder affecting approximately 1:50,000 people worldwide. So far, mutations in 25 genes have been associated with LCA, with CEP290 (encoding the Centrosomal protein of 290 kDa) being the most
Bax, N.M. (Nathalie), Born, L.I. (Ingeborgh) van den, Collin, R.W.J. (Rob), Duijkers, L. (Lonneke), Garanto, A. (Alejandro), Klevering, B.J. (B. Jeroen), Neidhardt, J. (John), Pierrache, L. (Laurence)   +7 more
core   +1 more source

A Gene Scan Study of RPE65 in Chinese Patients with Leber Congenital Amaurosis

Chinese Medical Journal, 2017
Background: Leber congenital amaurosis (LCA) is a visual disease which is caused by RPE65 mutations and results in retinal degeneration and severe vision loss in early infancy. According to previous researches, mutations of the RPE65 gene account for 16%
Jing Liu, Juan Bu
doaj   +1 more source

Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies [PDF]

, 2016
The photoreceptor cells in the retina have a highly specialised sensory cilium, the outer segment (OS), which is important for detecting light. Mutations in cilia-related genes often result in retinal degeneration.
Cheetham, ME, Coffey, PJ, Hardcastle, AJ, Jovanovic, K, Lane, A, Parfitt, DA, Ramsden, C   +6 more
core   +1 more source

Leber Congenital Amaurosis

Güncel Retina Dergisi (Current Retina Journal), 2021
Leber Congenital Amaurosis (LCA) is one of the most severe forms of hereditary retinal dystrophies described approximately 150 years ago and is a cause of vision loss early in childhood. Although LCA is characterized by wandering nystagmus, poor pupillary reflex (amaurotic pupils), and undetectable or severely abnormal ERG responses in infancy, there ...
openaire   +1 more source

Generation of a human iPSC line, INMi004-A, with a point mutation in CRX associated with autosomal dominant Leber congenital amaurosis

Stem Cell Research, 2019
The human induced pluripotent stem cell (iPSC) line, INMi004-A, was generated using dermal fibroblasts from a 6 year-old patient with autosomal dominant Leber Congenital Amaurosis (LCA) caused by the point mutation c.695delC (p.Pro232Argfs*139) in the ...
Nejla Erkilic, Carla Sanjurjo-Soriano, Gaël Manes, Gregor Dubois, Christian P. Hamel, Isabelle Meunier, Vasiliki Kalatzis   +6 more
doaj   +1 more source

Generation of a human induced pluripotent stem cell line from a patient with Leber congenital amaurosis

Stem Cell Research, 2020
Leber congenital amaurosis (LCA) is an inherited retinal dystrophy that is characterized by severe visual impairment in early infancy. We generated a human induced pluripotent stem cell (hiPSC) line, DKHi090-A, from peripheral blood mononuclear cells ...
Hyeyeon Park, Jinu Han, Youngsun Lee, Sungwook Kwak, Soo Kyung Koo   +4 more
doaj   +1 more source

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

Molecular Therapy: Nucleic Acids, 2012
Leber congenital amaurosis (LCA) is a severe hereditary retinal dystrophy responsible for congenital or early-onset blindness. The most common disease-causing mutation (>10%) is located deep in intron 26 of the CEP290 gene (c.2991+1655A>G).
Xavier Gerard, Isabelle Perrault, Sylvain Hanein, Eduardo Silva, Karine Bigot, Sabine Defoort-Delhemmes, Marlèene Rio, Arnold Munnich, Daniel Scherman, Josseline Kaplan, Antoine Kichler, Jean-Michel Rozet   +11 more
doaj   +1 more source

Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentation in HES7 [PDF]

, 2016
BackgroundThe reduced cost and improved efficiency of whole genome sequencing (WGS) is drastically improving the development of cats as biomedical models.
Alhaddad, Hasan, Beale, Holly, Creighton, Erica, Gandolfi, Barbara, Grahn, Robert, Helps, Christopher, Lyons, Leslie, Maggs, David, Rah, HyungChul   +8 more
core   +3 more sources