Results 1 to 10 of about 7,465 (249)

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

Clin Case Rep
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.
Neissi M, Sheikh-Hosseini M, Mohammadi-Asl M, Al-Badran AI, Roghani M, Mohammadi-Asl J, Jorfi K.   +6 more
europepmc   +3 more sources

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation [PDF]

Molecular Therapy: Nucleic Acids, 2012
Leber congenital amaurosis (LCA) is a severe hereditary retinal dystrophy responsible for congenital or early-onset blindness. The most common disease-causing mutation (>10%) is located deep in intron 26 of the CEP290 gene (c.2991+1655A>G).
Daniel Scherman, Jean-Michel Rozet, Isabelle Perrault, Josseline Kaplan, Antoine Kichler, Sylvain Hanein, Karine Bigot, Marlèene Rio, Xavier Gerard, Eduardo Silva, Sabine Defoort-Delhemmes, Arnold Munnich   +11 more
core   +4 more sources

Leber Congenital Amaurosis

Güncel Retina Dergisi (Current Retina Journal), 2021
Leber Konjenital Amorozisi (LKA), yaklaşık 150 yıl önce tanımlanan ve erken çocuklukta görme kaybıyla sonuçlanan, kalıtsal retina distrofilerinin en şiddetli olanlarından biridir.
SEVİK, MEHMET ORKUN, ŞAHİN, ÖZLEM
core   +3 more sources

Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease. [PDF]

, 2016
The nicotinamide nucleotide adenylyltransferase 1 (NMNAT1) enzyme is essential for regenerating the nuclear pool of NAD(+) in all nucleated cells in the body, and mounting evidence also suggests that it has a separate role in neuroprotection.
Shi, Lan Ying, Liu, Qin, Hicks, Wanda L, Krebs, Mark P, Collin, Gayle B, Brown, Steve D M, Stone, Lisa, Bowl, Michael R, Staniszewska, Magdalena, Nishina, Patsy M, Greenwald, Scott H, Pierce, Eric A, Charette, Jeremy R   +12 more
core   +2 more sources

Novel frameshift mutations inCRX associated with Leber congenital amaurosis [PDF]

Human Mutation, 2001
Mutations in CRX, a photoreceptor-specific transcription factor, can cause Leber congenital amaurosis (LCA), cone-rod dystrophy (CORD), and retinitis pigmentosa (RP), all of which feature severe visual impairment.
Carlo Rivolta, Anne B Fulton, Eliot L Berson   +2 more
exaly   +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

NMNAT1 Mutations Cause Leber Congenital Amaurosis [PDF]

Nature Genetics, 2013
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
Zhang, Qi, Kelly, Zoe, Consugar, Mark Bryant, Mackay, Donna S, Xiao, Rui, Zeitz, Christina, Borman, Arundhati Dev, Mohand-Said, Saddek, Sahel, José-Alain, Perin, Juan C, Shukla, Rachna, Jalali, Subhadra, Bhattacharya, Shomi S, Chakarova, Christina, Webster, Andrew R, Liu, Qin, Ostrovsky, Julian, Waseem, Naushin H, Nakamaru-Ogiso, Eiko, Pierce, Eric, Berson, Eliot L., Falk, Marni J, Kannabiran, Chitra, Moore, Anthony T, Gai, Xiaowu, Staniszewska, Magdalena, Audo, Isabelle, Palavalli, Lakshmi, Place, Emily   +28 more
core   +7 more sources

Molecular genetics of Leber congenital amaurosis. [PDF]

Human Molecular Genetics, 2002
Leber congenital amaurosis (LCA) is the most common inherited cause of blindness in childhood and is characterised by a severe retinal dystrophy before the age of one year.
Cremers, F.P.M., Hurk, J.A.J.M. van den, Hollander, A.I. den   +2 more
core   +5 more sources

Human cone photoreceptor transplantation stimulates remodeling and restores function in AIPL1 model of end-stage Leber congenital amaurosis. [PDF]

Stem Cell Reports
Photoreceptor degeneration is a leading cause of untreatable sight loss. Previously, we showed that human pluripotent stem cell-derived cone photoreceptors (hCones) can rescue retinal function in the Rd1 mouse model of rod-cone dystrophy.
Procyk CA, Melati A, Ribeiro J, Liu J, Branch MJ, Delicata JD, Tariq M, Kalarygrou AA, Kapadia J, Khorsani MM, West EL, Smith AJ, Gonzalez-Cordero A, Ali RR, Pearson RA.   +14 more
europepmc   +2 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