152 related articles for article (PubMed ID: 30366342)
1. Generation of a human iPSC line from a patient with Leber congenital amaurosis caused by mutation in AIPL1.
Lukovic D; Artero Castro A; León M; Del Buey Furió V; Cortón M; Ayuso C; Erceg S
Stem Cell Res; 2018 Dec; 33():151-155. PubMed ID: 30366342
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Generation of Leber congenital amaurosis, type 12 patient-specific induced pluripotent stem cell line (LVPEIi006-A), harboring a homozygous mutation in RD3.
Mahato S; Maddileti S; Naik M; Kannabiran C; Jalali S; Mariappan I
Stem Cell Res; 2024 Jun; 77():103380. PubMed ID: 38479331
[TBL] [Abstract][Full Text] [Related]
4. Generation of a human iPSC line, INMi004-A, with a point mutation in CRX associated with autosomal dominant Leber congenital amaurosis.
Erkilic N; Sanjurjo-Soriano C; Manes G; Dubois G; Hamel CP; Meunier I; Kalatzis V
Stem Cell Res; 2019 Jul; 38():101476. PubMed ID: 31247521
[TBL] [Abstract][Full Text] [Related]
5. Generation of a human induced pluripotent stem cell line from a patient with Leber congenital amaurosis.
Park H; Han J; Lee Y; Kwak S; Koo SK
Stem Cell Res; 2020 Mar; 43():101725. PubMed ID: 32036247
[TBL] [Abstract][Full Text] [Related]
6. 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]
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. 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]
9. 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]
10. Generation of two induced pluripotent stem cell lines (LVPEIi004-A and LVPEIi005-A) from probands with Leber Congenital Amaurosis 2 (LCA2) and harboring mutations in RPE65.
Maddileti S; Mahato S; Agrawal T; Pravin Dave V; Naik M; Javed Ali M; Kannabiran C; Jalali S; Jayandharan GR; Mariappan I
Stem Cell Res; 2024 Jun; 77():103413. PubMed ID: 38631180
[TBL] [Abstract][Full Text] [Related]
11. Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants.
Sarkar H; Méjécase C; Harding P; Eintracht J; Toualbi L; Cunha DL; Moosajee M
Stem Cell Res; 2021 Jul; 54():102449. PubMed ID: 34216980
[TBL] [Abstract][Full Text] [Related]
12. Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65.
Vázquez-Domínguez I; Kwint M; Kroes HY; Albert S; O'Gorman L; Gilissen C; Cremers FPM; Collin RWJ; Roosing S; Garanto A
Stem Cell Res; 2022 Apr; 60():102689. PubMed ID: 35121194
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Human induced pluripotent stem cells as a tool to model a form of Leber congenital amaurosis.
Lustremant C; Habeler W; Plancheron A; Goureau O; Grenot L; de la Grange P; Audo I; Nandrot EF; Monville C
Cell Reprogram; 2013 Jun; 15(3):233-46. PubMed ID: 23663011
[TBL] [Abstract][Full Text] [Related]
15. The Leber Congenital Amaurosis-Linked Protein AIPL1 and Its Critical Role in Photoreceptors.
Sacristan-Reviriego A; van der Spuy J
Adv Exp Med Biol; 2018; 1074():381-386. PubMed ID: 29721967
[TBL] [Abstract][Full Text] [Related]
16. Novel human pathological mutations. Gene symbol: RPE65. Disease: Leber congenital amaurosis.
Gandra M; Elamparithi A; Sundaramurthy S; Srivatsan S
Hum Genet; 2010 Apr; 127(4):479. PubMed ID: 21488244
[No Abstract] [Full Text] [Related]
17. 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]
18. The Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor cilium.
Hidalgo-de-Quintana J; Schwarz N; Meschede IP; Stern-Schneider G; Powner MB; Morrison EE; Futter CE; Wolfrum U; Cheetham ME; van der Spuy J
PLoS One; 2015; 10(3):e0121440. PubMed ID: 25799540
[TBL] [Abstract][Full Text] [Related]
19. Coat's like vasculopathy in leber congenital amaurosis secondary to homozygous mutations in CRB1: a case report and discussion of the management options.
Hasan SM; Azmeh A; Mostafa O; Megarbane A
BMC Res Notes; 2016 Feb; 9():91. PubMed ID: 26872607
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
