127 related articles for article (PubMed ID: 31954326)
1. Derivation of familial iPSC lines from three patients with retinitis pigmentosa carrying an autosomal dominant RPE65 mutation (NUIGi027-A, NUIGi028-A, NUIGi029-A).
Ding Y; Carvalho E; Murphy C; McInerney V; Krawczyk J; O'Brien T; Howard L; Cai L; Shen S
Stem Cell Res; 2020 Mar; 43():101665. PubMed ID: 31954326
[TBL] [Abstract][Full Text] [Related]
2. Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65.
Choi EH; Suh S; Sander CL; Hernandez CJO; Bulman ER; Khadka N; Dong Z; Shi W; Palczewski K; Kiser PD
Hum Mol Genet; 2018 Jul; 27(13):2225-2243. PubMed ID: 29659842
[TBL] [Abstract][Full Text] [Related]
3. Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in
Jauregui R; Cho A; Oh JK; Tanaka AJ; Sparrow JR; Tsang SH
Cold Spring Harb Mol Case Stud; 2020 Feb; 6(1):. PubMed ID: 32014860
[TBL] [Abstract][Full Text] [Related]
4. Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa.
Kiang AS; Kenna PF; Humphries MM; Ozaki E; Koenekoop RK; Campbell M; Farrar GJ; Humphries P
Genes (Basel); 2020 Nov; 11(12):. PubMed ID: 33261050
[TBL] [Abstract][Full Text] [Related]
5. Corrigendum to "Derivation of familial iPSC lines from three patients with retinitis pigmentosa carrying an autosomal dominant RPE65 mutation (NUIGi027-A, NUIGi028-A, NUIGi029-A)" [Stem Cell Res. (43) 2020 101665].
Ding Y; Carvalho E; Murphy C; McInerney V; Krawczyk J; O'Brien T; Howard L; Cai L; Shen S
Stem Cell Res; 2022 Aug; 63():102850. PubMed ID: 35772298
[No Abstract] [Full Text] [Related]
6. Gene Supplementation in Mice Heterozygous for the D477G RPE65 Variant Implicated in Autosomal Dominant Retinitis Pigmentosa.
Feathers KL; Jia L; Khan NW; Smith AJ; Ma JX; Ali RR; Thompson DA
Hum Gene Ther; 2023 Jul; 34(13-14):639-648. PubMed ID: 37014074
[TBL] [Abstract][Full Text] [Related]
7. Aberrant RNA splicing is the major pathogenic effect in a knock-in mouse model of the dominantly inherited c.1430A>G human RPE65 mutation.
Li Y; Furhang R; Ray A; Duncan T; Soucy J; Mahdi R; Chaitankar V; Gieser L; Poliakov E; Qian H; Liu P; Dong L; Rogozin IB; Redmond TM
Hum Mutat; 2019 Apr; 40(4):426-443. PubMed ID: 30628748
[TBL] [Abstract][Full Text] [Related]
8. A Dominant Mutation in Rpe65, D477G, Delays Dark Adaptation and Disturbs the Visual Cycle in the Mutant Knock-In Mice.
Shin Y; Moiseyev G; Chakraborty D; Ma JX
Am J Pathol; 2017 Mar; 187(3):517-527. PubMed ID: 28041994
[TBL] [Abstract][Full Text] [Related]
9. RPE65 c.353G>A, p.(Arg118Lys): A Novel Point Mutation Associated with Retinitis Pigmentosa and Macular Atrophy.
Bjeloš M; Bušić M; Ćurić A; Šarić B; Bosnar D; Marković L; Kuzmanović Elabjer B; Rak B
Int J Mol Sci; 2022 Sep; 23(18):. PubMed ID: 36142423
[TBL] [Abstract][Full Text] [Related]
10. Environmental Light Has an Essential Effect on the Disease Expression in a Dominant RPE65 Mutation.
Wu W; Takahashi Y; Ma X; Moiseyev G; Ma JX
Adv Exp Med Biol; 2023; 1415():415-419. PubMed ID: 37440066
[TBL] [Abstract][Full Text] [Related]
11. [Molecular exploration of the R91W (RPE65 gene) in Tunisian patients with early onset retinal dystrophy and early onset retinitis pigmentosa].
Chouchene I; Largueche L; Derouiche K; Mabrouk S; Abdelhak S; El Matri L
Tunis Med; 2015 Jul; 93(7):445-8. PubMed ID: 26757501
[TBL] [Abstract][Full Text] [Related]
12. Establishment of an induced pluripotent stem cell line (FRIMOi005-A) derived from a retinitis pigmentosa patient carrying a dominant mutation in RHO gene.
Domingo-Prim J; Riera M; Burés-Jelstrup A; Corcostegui B; Pomares E
Stem Cell Res; 2019 Jul; 38():101468. PubMed ID: 31146251
[TBL] [Abstract][Full Text] [Related]
13. Compound heterozygous RPE65 mutations associated with an early onset autosomal recessive retinitis pigmentosa.
Owczarek-Lipska M; Song F; Jakšić V; Neidhardt J
J Gene Med; 2020 Oct; 22(10):e3211. PubMed ID: 32367544
[TBL] [Abstract][Full Text] [Related]
14. Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene.
Terray A; Slembrouck A; Nanteau C; Chondroyer C; Zeitz C; Sahel JA; Audo I; Reichman S; Goureau O
Stem Cell Res; 2017 Oct; 24():1-4. PubMed ID: 29034877
[TBL] [Abstract][Full Text] [Related]
15. Two-year progression analysis of RPE65 autosomal dominant retinitis pigmentosa.
Jauregui R; Park KS; Tsang SH
Ophthalmic Genet; 2018 Aug; 39(4):544-549. PubMed ID: 29947567
[TBL] [Abstract][Full Text] [Related]
16. A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.
Bowne SJ; Humphries MM; Sullivan LS; Kenna PF; Tam LC; Kiang AS; Campbell M; Weinstock GM; Koboldt DC; Ding L; Fulton RS; Sodergren EJ; Allman D; Millington-Ward S; Palfi A; McKee A; Blanton SH; Slifer S; Konidari I; Farrar GJ; Daiger SP; Humphries P
Eur J Hum Genet; 2011 Oct; 19(10):1074-81. PubMed ID: 21654732
[TBL] [Abstract][Full Text] [Related]
17. Pathogenicity reclassification of the
Bjeloš M; Bušić M; Ćurić A; Bosnar D; Šarić B; Marković L; Kuzmanović Elabjer B; Rak B
Ophthalmic Genet; 2023 Jun; 44(3):276-280. PubMed ID: 35904185
[TBL] [Abstract][Full Text] [Related]
18. Establishment and characterization of an iPSC line (FRIMOi001-A) derived from a retinitis pigmentosa patient carrying PDE6A mutations.
Riera M; Patel A; Corcostegui B; Chang S; Sparrow JR; Pomares E; Corneo B
Stem Cell Res; 2019 Mar; 35():101385. PubMed ID: 30685614
[TBL] [Abstract][Full Text] [Related]
19. Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation.
Calado SM; Garcia-Delgado AB; De la Cerda B; Ponte-Zuñiga B; Bhattacharya SS; Díaz-Corrales FJ
Stem Cell Res; 2018 Dec; 33():251-254. PubMed ID: 30471616
[TBL] [Abstract][Full Text] [Related]
20. Current Management of Patients with RPE65 Mutation-Associated Inherited Retinal Degenerations in Europe: Results of a Multinational Survey by the European Vision Institute Clinical Research Network.
Lorenz B; Tavares J; van den Born LI; Marques JP; Scholl HPN;
Ophthalmic Res; 2021; 64(5):740-753. PubMed ID: 33684911
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
