Results 121 to 130 of about 12,927 (274)

Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene [PDF]

, 2018
Purpose: To identify the genetic defect, and to phenotype, three consanguineous Tunisian families presenting with early-onset retinal degeneration (EORD). Methods: All accessible family members were included.
Ambresin, Aude, Arsenijevic, Yvan, Borruat, François‐Xavier, El Matri, Leila, Kawasaki, Aki, Munier, Francis, Schorderet, Daniel, Seeliger, Mathias, Wenzel, Andreas   +8 more
core  

Ocular gene transfer in the spotlight: implications of newspaper content for clinical communications [PDF]

, 2014
BACKGROUND: Ocular gene transfer clinical trials are raising hopes for blindness treatments and attracting media attention. News media provide an accessible health information source for patients and the public, but are often criticized for ...
Shelly Benjaminy, Tania Bubela
core   +2 more sources

CRISPR/Cas9-mediated generation of a homozygous CRB2 knockout H1 human embryonic stem cell line

Stem Cell Research
Mutations in the Crumbs homolog 2 (CRB2) gene cause various autosomal recessive genetic diseases, such as leber congenital amaurosis, retinitis pigmentosa and ventriculomegaly with cystic kidney disease.
Lei Zhang, Fengfeng Zhang, Mingze Yao
doaj   +1 more source

A Novel Nonsense Mutation(c.1499C>G) in CRB1 Caused Leber Congenital Amaurosis-8 in a Chinese Family and Literature Review [PDF]

, 2022
Wenhua Duan, Taicheng Zhou, Huawei Jiang, Minhui Zhang, Min Hu, Liwei Zhang   +5 more
openalex   +1 more source

Deletion of M-opsin prevents “M cone” degeneration in a mouse model of Leber congenital amaurosis

bioRxiv, 2019
Mutations in RPE65 or lecithin-retinol acyltransferase (LRAT) disrupt 11-cis-retinal synthesis and cause Leber congenital amaurosis (LCA). In Lrat−/− mouse model, mislocalized medium (M)-wavelength sensitive opsin was degraded whereas mislocalized short (
H. Xu, N. Enemchukwu, Xiaoyue Zhong, Olivia Zhang, Yingbin Fu   +4 more
semanticscholar   +1 more source

The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6 [PDF]

, 2017
Biallelic mutations in the photoreceptor-expressed aryl hydrocarbon receptor interacting protein-like 1 (AIPL1) are associated with autosomal recessive Leber congenital amaurosis (LCA), the most severe form of inherited retinopathy in early childhood ...
Aboshiha, Aguila, Allan, Almudena Sacristan-Reviriego, Annette Aichem, Annika N Boehm, Bell, Bellingham, Bett, Bolte, Chadli, Cheung-Flynn, Chrisostomos Prodromou, Cote, den Hollander, Dharmaraj, Gallon, Gietz, Gopalakrishna, Hidalgo-de-Quintana, Hidalgo-de-Quintana, Jacqueline van der Spuy, James Bainbridge, James Bellingham, Johnson, Kanaya, Karan, Kelley, Kirschman, Koenekoop, Kolandaivelu, Kolandaivelu, Lamb, Lee, Li, Linnert, Liu, Majumder, Michel Michaelides, Neruban Kumaran, Onuoha, Pearl, Pirkl, Prodromou, Ramamurthy, Ramamurthy, Russell, Scheufler, Schmid, Sohocki, Tsang, van der Spuy, van der Spuy, Weleber, Yadav, Young, Yu   +56 more
core   +1 more source

CRB1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations Spectrum

Iranian Biomedical Journal, 2019
Background: Leber congenital amaurosis (LCA) is a rare inherited retinal disease causing severe visual impairment in infancy. It has been reported that 9-15% of LCA cases have mutations in CRB1 gene.
M. Saberi, Zahra Golchehre, Arezou Karamzade, M. Entezam, Y. Eshaghkhani, E. Alavinejad, Hassan Khojasteh Jafari, M. Keramatipour   +7 more
semanticscholar   +1 more source

CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines

Stem Cell Research
CEP290 is an important human disease gene, as mutations are implicated in a broad spectrum of autosomal recessive ciliopathies, including Leber congenital amaurosis and Joubert, Meckel, Senior-LØken or Bardet Biedl syndromes.
Joana Figueiro-Silva, Melanie Eschment, Michelle Mennel, Affef Abidi, Beatrice Oneda, Anita Rauch, Ruxandra Bachmann-Gagescu   +6 more
doaj   +1 more source

Evaluation of tolerance to lentiviral LV-RPE65 gene therapy vector after subretinal delivery in non-human primates. [PDF]

, 2017
Several approaches have been developed for gene therapy in RPE65-related Leber congenital amaurosis. To date, strategies that have reached the clinical stages rely on adeno-associated viral vectors and two of them documented limited long-term effect.
Amirjanians, V., Arsenijevic, Y., Behar-Cohen, F., Bemelmans, A.P., Kostic, C., Lorenz, B., Martin, S., Matet, A., Mavilio, F., Moulin, A., Rosolen, S.G., Stieger, K.   +11 more
core   +4 more sources

Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis

Journal of Ophthalmology, 2015
Purpose. Leber congenital amaurosis (LCA), a genetically and clinically heterogeneous disease, is the earliest onset retinitis pigmentosa (RP) and is the most severe of hereditary retinal dystrophies.
Katsuhiro Hosono, Yuko Harada, Kentaro Kurata, Akiko Hikoya, Miho Sato, Shinsei Minoshima, Yoshihiro Hotta   +6 more
doaj   +1 more source