Results 31 to 40 of about 12,927 (274)

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   +2 more sources

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.

PLoS ONE, 2018
Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies (IRD) and the most frequent cause of inherited blindness in children.
Nicole Weisschuh, Britta Feldhaus, Muhammad Imran Khan, Frans P M Cremers, Susanne Kohl, Bernd Wissinger, Ditta Zobor   +6 more
doaj   +2 more sources

Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis. [PDF]

Am J Med Genet A, 2023
Albakri A, Pisuchpen P, Capasso JE, Schneider A, Kopinsky S, Glaser T, Chiang JP, Yomai AA, McNear D, Levin AV.   +9 more
europepmc   +3 more sources

Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis.

PLoS Medicine, 2006
BackgroundRPE65 is specifically expressed in the retinal pigment epithelium and is essential for the recycling of 11-cis-retinal, the chromophore of rod and cone opsins.
Alexis-Pierre Bemelmans, Corinne Kostic, Sylvain V Crippa, William W Hauswirth, Janis Lem, Francis L Munier, Mathias W Seeliger, Andreas Wenzel, Yvan Arsenijevic   +8 more
doaj   +3 more sources

Neural Network Prediction of Keratoconus in AIPL1-Linked Leber Congenital Amaurosis: A Proof-of-Concept Pilot Study. [PDF]

J Clin Med
Chow DR, Remtulla R, Vargas G, Leite G, Koenekoop RK.   +4 more
europepmc   +3 more sources

Microarray and morphological analysis of early postnatal CRB2 mutant retinas on a pure C57BL/6J genetic background [PDF]

, 2013
In humans, the Crumbs homologue-1 (CRB1) gene is mutated in progressive types of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis ...
Alves, C.H. (Celso Henrique), Bossers, K. (Koen), Essing, A.H.W. (Anke), Spek, P.J. (Peter) van der, Swagemakers, S.M.A. (Sigrid), Verhaagen, J. (Joost), Vos, R.M. (Rogier), Wijnholds, J. (Jan)   +7 more
core   +23 more sources

In vivo base editing rescues cone photoreceptors in a mouse model of early-onset inherited retinal degeneration

Nature Communications, 2022
Leber congenital amaurosis is caused by mutations in RPE65 and leads to retinal degeneration in children. Here, the authors show that in vivo base editing can prolong the survival of cone photoreceptors and rescue their function in a mouse model of the ...
Elliot H. Choi, Susie Suh, Andrzej T. Foik, Henri Leinonen, Gregory A. Newby, Xin D. Gao, Samagya Banskota, Thanh Hoang, Samuel W. Du, Zhiqian Dong, Aditya Raguram, Sajeev Kohli, Seth Blackshaw, David C. Lyon, David R. Liu, Krzysztof Palczewski   +15 more
doaj   +1 more source

Toward the Treatment of Inherited Diseases of the Retina Using CRISPR-Based Gene Editing

Frontiers in Medicine, 2021
Inherited retinal dystrophies [IRDs] are a common cause of severe vision loss resulting from pathogenic genetic variants. The eye is an attractive target organ for testing clinical translational approaches in inherited diseases.
Jennifer Hernández-Juárez, Genaro Rodríguez-Uribe, Genaro Rodríguez-Uribe, Shyamanga Borooah   +3 more
doaj   +1 more source

Genetics and therapy for pediatric eye diseases

EBioMedicine, 2021
Ocular morphogenesis in vertebrates is a highly organized process, orchestrated largely by intrinsic genetic programs that exhibit stringent spatiotemporal control.
Holly.Y. Chen, Ordan J. Lehmann, Anand Swaroop   +2 more
doaj   +1 more source

Coats-like vasculopathy in RDH12 Leber congenital amaurosis. [PDF]

Eye (Lond)
Ramtohul P, Aziz A, David T.
europepmc   +3 more sources