Results 91 to 100 of about 9,513 (213)

A study of candidate genes for day blindness in the standard wire haired dachshund [PDF]

, 2008
Background A genetic study was performed to identify candidate genes associated with day blindness in the standard wire haired dachshund. Based on a literature review of diseases in dogs and human with phenotypes similar to day blindness, ten genes were ...
Anne Wiik, Ernst-Otto Ropstad, Ellen Bjerkås, Frode Lingaas   +3 more
core   +2 more sources

Identifying mutations in Tunisian families with retinal dystrophy. [PDF]

, 2016
Retinal dystrophies (RD) are a rare genetic disorder with high genetic heterogeneity. This study aimed at identifying disease-causing variants in fifteen consanguineous Tunisian families. Full ophthalmic examination was performed.
Allaman-Pillet, N., Chebil, A., El Matri, L., Falfoul, Y., Habibi, I., Kort, F., Schorderet, D.F.   +6 more
core   +3 more sources

CRB1 Gene Mutation Causing Different Phenotypes of Leber Congenital Amaurosis in Siblings

Journal of Ophthalmic & Vision Research, 2019
Purpose: We report a rare case of CRB1gene mutation in two siblings (sisters) affected with the exact same genetic mutation on both CRB1genes resulting in varying phenotypes.
Shaheryar Ahmed Khan, Achim Richard Nestel   +1 more
doaj   +1 more source

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 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

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

Comparaison des coûts du diagnostic moléculaire des rétinites pigmentaires entre le séquençage selon Sanger et un séquençage à haut débit [PDF]

, 2012
La rétinite pigmentaire (RP) et l'amaurose congénitale de Leber (LCA) sont deux maladies héréditaires classées dans le groupe des rétinopathies pigmentaires. Plus de 100 gènes ou loci ont étés identifiés dans les RP (comptant pour 60% des patients) et 14
Bernasconi, M.
core  

Animal modelling for inherited central vision loss. [PDF]

, 2016
Disease-causing variants of a large number of genes trigger inherited retinal degeneration leading to photoreceptor loss. Because cones are essential for daylight and central vision such as reading, mobility, and face recognition, this review focuses on ...
Aguirre GD, Aguirre GD, Bernstein PS, Du W, Gerke CG, Goldstein O, Hood DC, Miyadera K, Mowat FM, Pang JJ, Parsons JT, Xiao X   +11 more
core   +1 more source

Generation of two induced pluripotent stem cell lines (LVPEIi004-A and LVPEIi005-A) from probands with Leber Congenital Amaurosis 2 (LCA2) and harboring mutations in RPE65

Stem Cell Research
Leber Congenital Amaurosis 2 is an early onset retinal dystrophy that occurs due to mutation in RPE65 gene. Here, we report the generation of two patient specific induced pluripotent stem cell lines harboring nonsense mutations in exon 7 (c.646A > T) and
Savitri Maddileti, Sudipta Mahato, Trupti Agrawal, Vivek Pravin Dave, Milind Naik, Mohammad Javed Ali, Chitra Kannabiran, Subhadra Jalali, Giridhara R. Jayandharan, Indumathi Mariappan   +9 more
doaj   +1 more source

Generation and validation of a Leber Congenital Amaurosis, Type 12 patient-specific iPSC line (LVPEIi006-B) with a splice-site mutation in RD3 and an isogenic mutation-corrected iPSC line (LVPEIi006-B-1)

Stem Cell Research
Leber congenital amaurosis, Type 12 is an early onset, autosomal recessive retinal disease caused by mutations in RD3. We report the generation of a patient-specific iPSC line (LVPEIi006-B), using Sendai viral vector-based reprogramming approach and an ...
Sudipta Mahato, Savitri Maddileti, Trupti Agrawal, Sundaram Acharya, Chitra Kannabiran, Subhadra Jalali, Debojyoti Chakraborty, Indumathi Mariappan   +7 more
doaj   +1 more source