Results 91 to 100 of about 7,465 (249)

A Novel Nonsense Mutation(c.1499C>G) in CRB1 Caused Leber Congenital Amaurosis-8 in a Chinese Family and Literature Review [PDF]

, 2022
Wenhua Duan, Taicheng Zhou, Huawei Jiang, Minhui Zhang, Min Hu, Liwei Zhang   +5 more
openalex   +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  

Gene therapy for Leber congenital amaurosis: advances and future directions

, 2012
Leber congenital amaurosis (LCA) is a congenital retinal dystrophy that results in significant and often severe vision loss at an early age. Comprehensive analysis of the genetic mutations and phenotypic correlations in LCA patients has allowed for ...
Ahmed, Zubair M., Hufnagel, Robert B., Correa, Zelia M., Sisk, Robert A.   +3 more
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IQCB1 mutations in patients with leber congenital amaurosis [PDF]

, 2011
Contains fulltext : 97979.pdf (Publisher’s version ) (Open Access)PURPOSE: Leber congenital amaurosis (LCA) is genetically heterogeneous, with 15 genes identified thus far, accounting for approximately 70% of LCA patients.
De Baere, Elfride, Lopez, Irma, Zrenner, Eberhart, Zrenner, E., Susanne Kohl, Samuel G. Jacobson, Estrada-Cuzcano, A., Hoyng, C.B., Elfride B W De Baere, Estrada-Cuzcano, Alejandro, Ingeborgh van den Born, L., Born, L.I. van den, Frans P M Cremers, Anneke I Den Hollander, Françoise Meire, Meire, Francoise, Maumenee, Irene H, Hoyng, Carel B, Anneke I. den Hollander, Cremers, Frans PM, Coppieters, F., Antje Bernd, Frans P. M. Cremers, Bernd, A., Collin, Rob R.W.J., Irene H. Maumenee, Collin, R.W.J., Cremers, Frans P M, Koenekoop, Robert K, Rob W J Collin, Klaus Rohrschneider, Debbie Roeleveld, Robert K Koenekoop, Marek, J., Bernd, Antje, Koenekoop, Robert, Meire, F., Maumenee, I.H., Cremers, F.P.M., Lopez, I., Jacobson, Samuel S.G., Maumenee, Irene I.H., Collin, Rob WJ, Roeleveld, D., Rohrschneider, K., Coppieters, Frauke, L. Ingeborgh van den Born, Baere, E.B. De, Carel B Hoyng, Irma Lopez, Rohrschneider, Klaus, Koenekoop, R.K., Kohl, Susanne, Carel B. Hoyng, van den Born, L Ingeborgh, Marek, Jonah, Jacobson, Samuel G, den Hollander, Anneke I, Roeleveld, Debbie, Eberhart Zrenner, Frauke Coppieters, Rob W. J. Collin, Jacobson, S.G., Jonah Marek, Robert K. Koenekoop, Hoyng, Carel C.B., Elfride B. W. De Baere, Alejandro Estrada-Cuzcano, Kohl, S., Hollander, A.I. den, den Hollander, Anneke A.I.   +70 more
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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

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

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

, 2012
International audienceIn addition to its activity in nicotinamide adenine dinucleotide (NAD+) synthesis, the nuclear nicotinamide mononucleotide adenyltransferase NMNAT1 acts as a chaperone that protects against neuronal activity–induced degeneration ...
Hanein, Sylvain, Defoort-Delhemmes, Sabine, Nicouleau, Michaël, Kaplan, Josseline, Goldenberg, Alice, Calvas, Patrick, Rozet, Jean-Michel, Le Meur, Gylène, Hamel, Christian, Silva, Eduardo, Gerber, Sylvie, Nitschké, Patrick, Serre, Valérie, Delphin, Nathalie, Duncombe, Alice, Edelson, Catherine, Zanlonghi, Xavier, Xerri, Olivia, Dollfus, Hélène, Fares-Taie, Lucas, Munnich, Arnold, Roche, Olivier, Perrault, Isabelle   +22 more
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RDH12, a retinol dehydrogenase causing Leber's congenital amaurosis, is also involved in steroid metabolism.

, 2007
Three retinol dehydrogenases (RDHs) were tested for steroid converting abilities: human and murine RDH 12 and human RDH13. RDH12 is involved in retinal degeneration in Leber's congenital amaurosis (LCA).
Adamski, J., Keller, B.
core   +1 more source

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   +1 more source

Leber congenital amaurosis in siblings with diffuse dysmyelination

, 1991
Two brothers are described with the previously unrecognized combination of Leber amaurosis and abnormal myelin detected by magnetic resonance imaging. Both have evidence of delayed psychomotor development and one has autistic features.
Flynn, John T, Curless, Richard G, Olsen, Karl R, Judith Post, M   +3 more
core   +1 more source