Results 21 to 30 of about 12,927 (274)

NMNAT1 Mutations Cause Leber Congenital Amaurosis [PDF]

Nature Genetics, 2012
Leber congenital amaurosis (LCA) is an infantile-onset form of inherited retinal degeneration characterized by severe vision loss. Two-thirds of LCA cases are caused by mutations in 17 known disease genes (RetNet Retinal Information Network). Using exome
Audo, Isabelle, Berson, Eliot Lawrence, Bhattacharya, Shomi S, Borman, Arundhati Dev, Chakarova, Christina, Consugar, Mark Bryant, Falk, Marni J, Gai, Xiaowu, Jalali, Subhadra, Kannabiran, Chitra, Kelly, Zoe, Liu, Qin, Mackay, Donna S, Mohand-Said, Saddek, Moore, Anthony T, Nakamaru-Ogiso, Eiko, Ostrovsky, Julian, Palavalli, Lakshmi, Perin, Juan C, Pierce, Eric Adam, Place, Emily Margaret, Sahel, José-Alain, Shukla, Rachna, Staniszewska, Magdalena, Waseem, Naushin H, Webster, Andrew R, Xiao, Rui, Zeitz, Christina, Zhang, Qi   +28 more
core   +6 more sources

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   +2 more sources

Novel mutation identified in Leber congenital amaurosis - a case report [PDF]

BMC Ophthalmology, 2020
Background Leber congenital amaurosis (LCA) is the earliest onset and the most severe form of all inherited retinal degenerative disorders, characterized by blindness, or severe visual impairment from birth, and typically exhibits clinical and genetic ...
Shigeru Sato, Takeshi Morimoto, Sayaka Tanaka, Kikuko Hotta, Takashi Fujikado, Motokazu Tsujikawa, Kohji Nishida   +6 more
doaj   +2 more sources

Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence [PDF]

Investigative Ophthalmology and Visual Science, 2019
Purpose To use supervised machine learning to predict visual function from retinal structure in retinitis pigmentosa (RP) and apply these estimates to CEP290- and NPHP5-associated Leber congenital amaurosis (LCA) to determine the potential for functional
A. Sumaroka, Alexandra V. Garafalo, Evelyn P Semenov, Rebecca Sheplock, A. Krishnan, A. J. Roman, S. Jacobson, A. Cideciyan   +7 more
semanticscholar   +2 more sources

Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis [PDF]

Human Gene Therapy, 2018
Mutations in the cilia-centrosomal protein CEP290 are frequently observed in autosomal recessive childhood blindness disorder Leber congenital amaurosis (LCA). No treatment or cure currently exists for this disorder.
Wei Zhang, Linjing Li, Q. Su, G. Gao, H. Khanna   +4 more
semanticscholar   +2 more sources

Bystander editing by adenine base editors impairs vision restoration in a mouse model of Leber congenital amaurosis [PDF]

Molecular Therapy: Methods & Clinical Development
Base editors (BEs) have emerged as a powerful tool for gene correction with high activity. However, bystander base editing, a byproduct of BEs, presents challenges for precise editing.
Seok-Hoon Lee, Jun Wu, Dongjoon Im, Gue-ho Hwang, You Kyeong Jeong, Hui Jiang, Seok Jae Lee, Dong Hyun Jo, William A. Goddard, III, Jeong Hun Kim, Sangsu Bae   +10 more
doaj   +2 more sources

Publication trends of Leber congenital amaurosis researches: a bibliometric study during 2002-2022 [PDF]

International Journal of Ophthalmology
AIM: To analyze the changes in scientific output relating to Leber congenital amaurosis (LCA) and forecast the study trends in this field. METHODS: All of the publications in the field of LCA from 2002 to 2022 were collected from Web of Science (WOS ...
Xiao-Xu Huang, Yi-Min Wang, Min-Yue Xie, Yi-Qing Sun, Xiao-Huan Zhao, Yu-Hong Chen, Jie-Qiong Chen, Si-Yang Han, Min-Wen Zhou, Xiao-Dong Sun   +9 more
doaj   +2 more sources

Real-world outcomes of voretigene neparvovec treatment in pediatric patients with RPE65-associated Leber congenital amaurosis. [PDF]

Graefes Arch Clin Exp Ophthalmol, 2022
Deng C, Zhao PY, Branham K, Schlegel D, Fahim AT, Jayasundera TK, Khan N, Besirli CG.   +7 more
europepmc   +2 more sources

Visual function restoration in a mouse model of Leber congenital amaurosis via therapeutic base editing. [PDF]

Mol Ther Nucleic Acids, 2023
Jo DH, Jang HK, Cho CS, Han JH, Ryu G, Jung Y, Bae S, Kim JH.   +7 more
europepmc   +2 more sources

Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosis. [PDF]

Stem Cell Reports, 2022
Leung A, Sacristan-Reviriego A, Perdigão PRL, Sai H, Georgiou M, Kalitzeos A, Carr AF, Coffey PJ, Michaelides M, Bainbridge J, Cheetham ME, van der Spuy J.   +11 more
europepmc   +2 more sources