Results 1 to 10 of about 9,513 (213)

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   +8 more sources

Identification and characterization of NMNAT1 gene mutations in an Iranian patient with Leber congenital amaurosis 9 [PDF]

Clinical Case Reports
Key Clinical Message The discovery of compound heterozygous NMNAT1 mutations (c.245T>C; p.Val82Ala and c.575A>G; p.Asp192Gly) provides a genetic explanation for Leber congenital amaurosis 9 in an Iranian patient.
Mostafa Neissi, Motahareh Sheikh‐Hosseini, Misagh Mohammadi‐Asl, Adnan Issa Al‐Badran, Mojdeh Roghani, Javad Mohammadi‐Asl, Kamele Jorfi   +6 more
doaj   +2 more sources

The Role of TRiC-enhanced Actin Folding in Leber Congenital Amaurosis [PDF]

Journal of Ophthalmic & Vision Research, 2023
Purpose: Mutations in TCP-1 ring complex (TRiC) have been associated with Leber Congenital Amaurosis (LCA). TRiC is involved in protein folding and has 8 essential subunits including CCT5.
Silke Berger, Peter D. Currie, Joachim Berger   +2 more
doaj   +2 more sources

Relative preservation of the extramacular retina in LCA5-associated Leber congenital amaurosis [PDF]

American Journal of Ophthalmology Case Reports, 2022
Leber Congenital Amaurosis caused by mutations in LCA5 (LCA5-LCA) represents one of the most severe molecular forms of inherited retinal degenerations, even within the LCA disease spectrum.
Keli O'Connor, Erin C. O'Neil, Tomas S. Aleman   +2 more
doaj   +2 more sources

Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients [PDF]

BioMedical Engineering OnLine, 2012
Background Objective techniques to assess the amelioration of vision in patients with impaired visual function are needed to standardize efficacy assessment in gene therapy trials for ocular diseases.
Melillo Paolo, Pecchia Leandro, Testa Francesco, Rossi Settimio, Bennett Jean, Simonelli Francesca   +5 more
doaj   +5 more sources

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA) [PDF]

Orphanet Journal of Rare Diseases, 2020
Background Leber congenital amaurosis (LCA) is a rare retinal disease that is the most frequent cause of congenital blindness in children and the most severe form of inherited retinal dystrophies.
Anna Skorczyk-Werner, Zuzanna Niedziela, Marcin Stopa, Maciej Robert Krawczyński   +3 more
doaj   +2 more sources

Reduced ADP off-rate by the yeast CCT2 double mutation T394P/R510H which causes Leber congenital amaurosis in humans [PDF]

Communications Biology, 2023
The CCT/TRiC chaperonin is found in the cytosol of all eukaryotic cells and assists protein folding in an ATP-dependent manner. The heterozygous double mutation T400P and R516H in subunit CCT2 is known to cause Leber congenital amaurosis (LCA), a ...
Mousam Roy, Rachel C. Fleisher, Alexander I. Alexandrov, Amnon Horovitz   +3 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

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