178 related articles for article (PubMed ID: 27645772)
1. CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability.
Minegishi Y; Sheng X; Yoshitake K; Sergeev Y; Iejima D; Shibagaki Y; Monma N; Ikeo K; Furuno M; Zhuang W; Liu Y; Rong W; Hattori S; Iwata T
Sci Rep; 2016 Sep; 6():33742. PubMed ID: 27645772
[TBL] [Abstract][Full Text] [Related]
2. Mutation in the Zebrafish cct2 Gene Leads to Abnormalities of Cell Cycle and Cell Death in the Retina: A Model of CCT2-Related Leber Congenital Amaurosis.
Minegishi Y; Nakaya N; Tomarev SI
Invest Ophthalmol Vis Sci; 2018 Feb; 59(2):995-1004. PubMed ID: 29450543
[TBL] [Abstract][Full Text] [Related]
3. Compound heterozygous mutations in a mouse model of Leber congenital amaurosis reveal the role of CCT2 in photoreceptor maintenance.
Suga A; Minegishi Y; Yamamoto M; Ueda K; Iwata T
Commun Biol; 2024 Jun; 7(1):676. PubMed ID: 38830954
[TBL] [Abstract][Full Text] [Related]
4. Reduced ADP off-rate by the yeast CCT2 double mutation T394P/R510H which causes Leber congenital amaurosis in humans.
Roy M; Fleisher RC; Alexandrov AI; Horovitz A
Commun Biol; 2023 Aug; 6(1):888. PubMed ID: 37644231
[TBL] [Abstract][Full Text] [Related]
5. Pharmacological Amelioration of Cone Survival and Vision in a Mouse Model for Leber Congenital Amaurosis.
Li S; Samardzija M; Yang Z; Grimm C; Jin M
J Neurosci; 2016 May; 36(21):5808-19. PubMed ID: 27225770
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands.
Xu Y; Xiao X; Li S; Jia X; Xin W; Wang P; Sun W; Huang L; Guo X; Zhang Q
Exp Eye Res; 2016 Aug; 149():93-99. PubMed ID: 27375279
[TBL] [Abstract][Full Text] [Related]
9. Investigating Chaperonin-Containing TCP-1 subunit 2 as an essential component of the chaperonin complex for tumorigenesis.
Showalter AE; Martini AC; Nierenberg D; Hosang K; Fahmi NA; Gopalan P; Khaled AS; Zhang W; Khaled AR
Sci Rep; 2020 Jan; 10(1):798. PubMed ID: 31964905
[TBL] [Abstract][Full Text] [Related]
10. Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.
Downs LM; Scott EM; Cideciyan AV; Iwabe S; Dufour V; Gardiner KL; Genini S; Marinho LF; Sumaroka A; Kosyk MS; Swider M; Aguirre GK; Jacobson SG; Beltran WA; Aguirre GD
Hum Mol Genet; 2016 Oct; 25(19):4211-4226. PubMed ID: 27506978
[TBL] [Abstract][Full Text] [Related]
11. CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype.
Burnight ER; Wiley LA; Drack AV; Braun TA; Anfinson KR; Kaalberg EE; Halder JA; Affatigato LM; Mullins RF; Stone EM; Tucker BA
Gene Ther; 2014 Jul; 21(7):662-72. PubMed ID: 24807808
[TBL] [Abstract][Full Text] [Related]
12. Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.
Soens ZT; Li Y; Zhao L; Eblimit A; Dharmat R; Li Y; Chen Y; Naqeeb M; Fajardo N; Lopez I; Sun Z; Koenekoop RK; Chen R
Genet Med; 2016 Oct; 18(10):1044-51. PubMed ID: 26820066
[TBL] [Abstract][Full Text] [Related]
13. Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
Perrault I; Hanein S; Gerard X; Delphin N; Fares-Taie L; Gerber S; Pelletier V; Mercé E; Dollfus H; Puech B; Defoort-Dhellemmes S; Petersen MD; Zafeiriou D; Munnich A; Kaplan J; Roche O; Rozet JM
Hum Mutat; 2010 Mar; 31(3):E1241-50. PubMed ID: 20104588
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.
Mackay DS; Ocaka LA; Borman AD; Sergouniotis PI; Henderson RH; Moradi P; Robson AG; Thompson DA; Webster AR; Moore AT
Invest Ophthalmol Vis Sci; 2011 May; 52(6):3032-8. PubMed ID: 21310915
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants.
Sasaki Y; Margolin Z; Borgo B; Havranek JJ; Milbrandt J
J Biol Chem; 2015 Jul; 290(28):17228-38. PubMed ID: 26018082
[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. Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity.
Seong MW; Seo SH; Yu YS; Hwang JM; Cho SI; Ra EK; Park H; Lee SJ; Kim JY; Park SS
J Mol Diagn; 2015 Jan; 17(1):100-5. PubMed ID: 25445212
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]