159 related articles for article (PubMed ID: 31082679)
1. Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling.
Bolinches-Amorós A; León M; Del Buey Furió V; Marfany G; Gonzàlez-Duarte R; Erceg S; Lukovic D
Stem Cell Res; 2019 Jul; 38():101455. PubMed ID: 31082679
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Generation of a human iPSC line from a patient with retinitis pigmentosa caused by mutation in PRPF8 gene.
Lukovic D; Bolinches-Amorós A; Artero-Castro A; Pascual B; Carballo M; Hernan I; Erceg S
Stem Cell Res; 2017 May; 21():23-25. PubMed ID: 28677533
[TBL] [Abstract][Full Text] [Related]
5. Generation of gene-corrected human induced pluripotent stem cell lines derived from retinitis pigmentosa patient with Ser331Cysfs*5 mutation in MERTK.
Artero Castro A; Long K; Bassett A; Machuca C; León M; Ávila-Fernandez A; Cortón M; Vidal-Puig T; Ayuso C; Lukovic D; Erceg S
Stem Cell Res; 2019 Jan; 34():101341. PubMed ID: 30612079
[TBL] [Abstract][Full Text] [Related]
6. Generation of an induced pluripotent stem cell line (FRIMOi002-A) from a retinitis pigmentosa patient carrying compound heterozygous mutations in USH2A gene.
Riera M; Patel A; Corcostegui B; Chang S; Corneo B; Sparrow JR; Pomares E
Stem Cell Res; 2019 Mar; 35():101386. PubMed ID: 30685615
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa.
Avila-Fernandez A; Riveiro-Alvarez R; Vallespin E; Wilke R; Tapias I; Cantalapiedra D; Aguirre-Lamban J; Gimenez A; Trujillo-Tiebas MJ; Ayuso C
Invest Ophthalmol Vis Sci; 2008 Jun; 49(6):2709-13. PubMed ID: 18515597
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Generation of three human iPSC lines from a retinitis pigmentosa family with SLC7A14 mutation.
Li YP; Liu H; Jin ZB
Stem Cell Res; 2020 Dec; 49():102075. PubMed ID: 33207307
[TBL] [Abstract][Full Text] [Related]
11. Overexpression of CERKL, a gene responsible for retinitis pigmentosa in humans, protects cells from apoptosis induced by oxidative stress.
Tuson M; Garanto A; Gonzàlez-Duarte R; Marfany G
Mol Vis; 2009; 15():168-80. PubMed ID: 19158957
[TBL] [Abstract][Full Text] [Related]
12. Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).
Tuson M; Marfany G; Gonzàlez-Duarte R
Am J Hum Genet; 2004 Jan; 74(1):128-38. PubMed ID: 14681825
[TBL] [Abstract][Full Text] [Related]
13. Generation of an induced pluripotent stem cell line from a patient with retinitis pigmentosa caused by RP1 mutation.
Zhang X; Moon SY; Zhang D; Chen SC; Lamey T; Thompson JA; McLaren T; De Roach JN; McLenachan S; Chen FK
Stem Cell Res; 2019 May; 37():101452. PubMed ID: 31059986
[TBL] [Abstract][Full Text] [Related]
14. CERKL mutation causing retinitis pigmentosa(RP) in Indian population - a genotype and phenotype correlation study.
Sen P; Maitra P; Natarajan S; Sripriya S; Mathavan S; Bhende M; Manchegowda PT
Ophthalmic Genet; 2020 Dec; 41(6):570-578. PubMed ID: 32865075
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Generation of two patient-derived iPSC lines from siblings (LIBUCi001-A and LIBUCi002-A) and a genetically modified iPSC line (JMUi001-A-1) to mimic dilated cardiomyopathy with ataxia (DCMA) caused by a homozygous DNAJC19 mutation.
Janz A; Chen R; Regensburger M; Ueda Y; Rost S; Klopocki E; Günther K; Edenhofer F; Duff HJ; Ergün S; Gerull B
Stem Cell Res; 2020 Jul; 46():101856. PubMed ID: 32521499
[TBL] [Abstract][Full Text] [Related]
17. Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa.
Sanjurjo-Soriano C; Erkilic N; Manes G; Dubois G; Hamel CP; Meunier I; Kalatzis V
Stem Cell Res; 2018 Dec; 33():228-232. PubMed ID: 30453153
[TBL] [Abstract][Full Text] [Related]
18. Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene.
López-Márquez A; Alonso-Barroso E; Cerro-Tello G; Bravo-Alonso I; Arribas-Carreira L; Briso-Montiano Á; Navarrete R; Pérez-Cerdá C; Ugarte M; Pérez B; Desviat LR; Richard E
Stem Cell Res; 2019 Jul; 38():101469. PubMed ID: 31132581
[TBL] [Abstract][Full Text] [Related]
19. Generation and characterization of the human iPSC line CABi001-A from a patient with retinitis pigmentosa caused by a novel mutation in PRPF31 gene.
de la Cerda B; Díez-Lloret A; Ponte B; Vallés-Saiz L; Calado SM; Rodríguez-Bocanegra E; Garcia-Delgado AB; Moya-Molina M; Bhattacharya SS; Díaz-Corrales FJ
Stem Cell Res; 2019 Apr; 36():101426. PubMed ID: 30921587
[TBL] [Abstract][Full Text] [Related]
20. Generation of two induced pluripotent stem cell lines from a retinitis pigmentosa patient with compound heterozygous mutations in CRB1.
Moon SY; Zhang D; Chen SC; Lamey TM; Thompson JA; McLaren TL; De Roach JN; Chen FK; McLenachan S
Stem Cell Res; 2021 Jul; 54():102403. PubMed ID: 34034222
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]