124 related articles for article (PubMed ID: 31576779)
1. A new novel nonsense mutation in
Wan L; Xiang L; Wang H; Shi Y; Jiang D; Hao F; Huang L
Ophthalmic Genet; 2019 Aug; 40(4):380-384. PubMed ID: 31576779
[No Abstract] [Full Text] [Related]
2. A Novel
Gumus E; Ozgur A
Fetal Pediatr Pathol; 2020 Jun; 39(3):251-258. PubMed ID: 31342828
[No Abstract] [Full Text] [Related]
3. Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy.
Testa F; Surace EM; Rossi S; Marrocco E; Gargiulo A; Di Iorio V; Ziviello C; Nesti A; Fecarotta S; Bacci ML; Giunti M; Della Corte M; Banfi S; Auricchio A; Simonelli F
Invest Ophthalmol Vis Sci; 2011 Jul; 52(8):5618-24. PubMed ID: 21474771
[TBL] [Abstract][Full Text] [Related]
4. Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosis.
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
Stem Cell Reports; 2022 Oct; 17(10):2187-2202. PubMed ID: 36084639
[TBL] [Abstract][Full Text] [Related]
5. Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p.
Damji KF; Sohocki MM; Khan R; Gupta SK; Rahim M; Loyer M; Hussein N; Karim N; Ladak SS; Jamal A; Bulman D; Koenekoop RK
Can J Ophthalmol; 2001 Aug; 36(5):252-9. PubMed ID: 11548141
[TBL] [Abstract][Full Text] [Related]
6. Retinal Organoids from an AIPL1 CRISPR/Cas9 Knockout Cell Line Successfully Recapitulate the Molecular Features of LCA4 Disease.
Perdigão PRL; Ollington B; Sai H; Leung A; Sacristan-Reviriego A; van der Spuy J
Int J Mol Sci; 2023 Mar; 24(6):. PubMed ID: 36982987
[TBL] [Abstract][Full Text] [Related]
7. Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1.
Pennesi ME; Stover NB; Stone EM; Chiang PW; Weleber RG
Invest Ophthalmol Vis Sci; 2011 Oct; 52(11):8166-73. PubMed ID: 21900377
[TBL] [Abstract][Full Text] [Related]
8. Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1.
Lukovic D; Artero Castro A; Kaya KD; Munezero D; Gieser L; Davó-Martínez C; Corton M; Cuenca N; Swaroop A; Ramamurthy V; Ayuso C; Erceg S
Sci Rep; 2020 Mar; 10(1):5426. PubMed ID: 32214115
[TBL] [Abstract][Full Text] [Related]
9. Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population.
Wang S; Zhang Q; Zhang X; Wang Z; Zhao P
Graefes Arch Clin Exp Ophthalmol; 2016 Nov; 254(11):2227-2238. PubMed ID: 27422788
[TBL] [Abstract][Full Text] [Related]
10. Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.
Sohocki MM; Bowne SJ; Sullivan LS; Blackshaw S; Cepko CL; Payne AM; Bhattacharya SS; Khaliq S; Qasim Mehdi S; Birch DG; Harrison WR; Elder FF; Heckenlively JR; Daiger SP
Nat Genet; 2000 Jan; 24(1):79-83. PubMed ID: 10615133
[TBL] [Abstract][Full Text] [Related]
11. Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.
Tan MH; Mackay DS; Cowing J; Tran HV; Smith AJ; Wright GA; Dev-Borman A; Henderson RH; Moradi P; Russell-Eggitt I; MacLaren RE; Robson AG; Cheetham ME; Thompson DA; Webster AR; Michaelides M; Ali RR; Moore AT
PLoS One; 2012; 7(3):e32330. PubMed ID: 22412862
[TBL] [Abstract][Full Text] [Related]
12. Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.
Xu K; Xie Y; Sun T; Zhang X; Chen C; Li Y
Br J Ophthalmol; 2020 Jul; 104(7):932-937. PubMed ID: 31630094
[TBL] [Abstract][Full Text] [Related]
13. Interaction of aryl hydrocarbon receptor-interacting protein-like 1 with the farnesyl moiety.
Majumder A; Gopalakrishna KN; Cheguru P; Gakhar L; Artemyev NO
J Biol Chem; 2013 Jul; 288(29):21320-21328. PubMed ID: 23737531
[TBL] [Abstract][Full Text] [Related]
14. Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis.
Chen Y; Zhang Q; Shen T; Xiao X; Li S; Guan L; Zhang J; Zhu Z; Yin Y; Wang P; Guo X; Wang J; Zhang Q
Invest Ophthalmol Vis Sci; 2013 Jun; 54(6):4351-7. PubMed ID: 23661368
[TBL] [Abstract][Full Text] [Related]
15. Gene and Cell Therapy for AIPL1-Associated Leber Congenital Amaurosis: Challenges and Prospects.
Perdigao PRL; van der Spuy J
Adv Exp Med Biol; 2019; 1185():97-101. PubMed ID: 31884595
[TBL] [Abstract][Full Text] [Related]
16. Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase.
Ramamurthy V; Niemi GA; Reh TA; Hurley JB
Proc Natl Acad Sci U S A; 2004 Sep; 101(38):13897-902. PubMed ID: 15365178
[TBL] [Abstract][Full Text] [Related]
17. Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.
Li S; Xi Q; Zhang X; Yu D; Li L; Jiang Z; Chen Q; Wang QK; Traboulsi EI
Mol Genet Genomics; 2018 Jun; 293(3):699-710. PubMed ID: 29322253
[TBL] [Abstract][Full Text] [Related]
18. Novel mutation identified in Leber congenital amaurosis - a case report.
Sato S; Morimoto T; Tanaka S; Hotta K; Fujikado T; Tsujikawa M; Nishida K
BMC Ophthalmol; 2020 Jul; 20(1):313. PubMed ID: 32736544
[TBL] [Abstract][Full Text] [Related]
19. Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.
Gradstein L; Zolotushko J; Sergeev YV; Lavy I; Narkis G; Perez Y; Guigui S; Sharon D; Banin E; Walter E; Lifshitz T; Birk OS
BMC Med Genet; 2016 Jul; 17(1):52. PubMed ID: 27475985
[TBL] [Abstract][Full Text] [Related]
20. Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.
Yücel-Yılmaz D; Tarlan B; Kıratlı H; Ozgül RK
DNA Cell Biol; 2014 Dec; 33(12):876-83. PubMed ID: 25148430
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]