Results 81 to 90 of about 266,209 (210)

Null RPGRIP1 Alleles in Patients with Leber Congenital Amaurosis [PDF]

, 2001
We isolated and characterized the entire coding sequence of a human gene encoding a protein that interacts with RPGR, a protein that is absent or mutant in many cases of X-linked retinitis pigmentosa.
Dryja, Thaddeus P., Berson, Eliot L., Grimsby, Jonna L., Li, Tiansen, Adams, Scott M., McGee, Terri L., Hong, Dong-Hyun, Andréasson, Sten   +7 more
core   +1 more source

Gene Therapy for Leber Congenital Amaurosis

, 2007
The first AAV-mediated RPE gene therapy to restore visual function was obtained in a canine model of Leber Congenital Amaurosis (LCA), a severe form of autosomal recessive, childhood-onset retinal dystrophy 1;2.
William Hauswirth; Jijing Pang; Sanford Boye
core  

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

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

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

Amaurosis fugax associated with congenital vascular defect

, 2016
John W Giltner,1 Edward R Thomas,2 William K Rundell3 1Boonshoft School of Medicine, Wright State University, Dayton, OH, USA; 2Ohio Eyecare Institute, Premier Health Specialists, Dayton, OH, USA; 3Department of Surgery, Miami Valley Hospital, Dayton, OH,
Rundell WK, Giltner JW, Thomas ER
core  

Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration

, 2007
PURPOSE: To report a large, consanguineous Algerian family affected with Leber congenital amaurosis (LCA) or early-onset retinal degeneration (EORD).
Borruat, François-Xavier, Munier, Francis L, Chachoua, L., Munier, F.L., Chachoua, Louisa, Barthelmes, D., Boussalah, Myriam, Nouri, M.T., Mataftsi, A., Borruat, F.X., Schorderet, Daniel F, Boussalah, M., Mataftsi, Asimina, Barthelmes, Daniel, Nouri, Mohamed T, Schorderet, D.F.   +15 more
core   +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

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

Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family

, 2013
This study aimed to identify genetic mechanisms underlying severe retinal degeneration in one large family from northern Sweden, members of which presented with early-onset autosomal recessive retinitis pigmentosa and juvenile macular dystrophy.
Marie S Burstedt, Norberg, Anna,, Sandgren, Ola,, Irina Golovleva, Burstedt, Marie S,, Ola Sandgren, Frida Jonsson, Golovleva, Irina,, Jonsson, Frida,, Anna Norberg   +9 more
core   +1 more source