Detalhe da pesquisa
1.
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Brain
; 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38735647
2.
Foxn4 is a temporal identity factor conferring mid/late-early retinal competence and involved in retinal synaptogenesis.
Proc Natl Acad Sci U S A
; 117(9): 5016-5027, 2020 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32071204
3.
Loss of endocytosis-associated RabGEF1 causes aberrant morphogenesis and altered autophagy in photoreceptors leading to retinal degeneration.
PLoS Genet
; 16(12): e1009259, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33362196
4.
Ligand-Induced Activation of GPR110 (ADGRF1) to Improve Visual Function Impaired by Optic Nerve Injury.
Int J Mol Sci
; 24(6)2023 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36982411
5.
Rs1h-/y exon 3-del rat model of X-linked retinoschisis with early onset and rapid phenotype is rescued by RS1 supplementation.
Gene Ther
; 29(7-8): 431-440, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34548657
6.
A Bietti Crystalline Dystrophy Mouse Model Shows Increased Sensitivity to Light-Induced Injury.
Int J Mol Sci
; 23(21)2022 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36361898
7.
Regulation of phagolysosomal activity by miR-204 critically influences structure and function of retinal pigment epithelium/retina.
Hum Mol Genet
; 28(20): 3355-3368, 2019 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31332443
8.
Maturation arrest in early postnatal sensory receptors by deletion of the miR-183/96/182 cluster in mouse.
Proc Natl Acad Sci U S A
; 114(21): E4271-E4280, 2017 05 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28484004
9.
Aberrant RNA splicing is the major pathogenic effect in a knock-in mouse model of the dominantly inherited c.1430A>G human RPE65 mutation.
Hum Mutat
; 40(4): 426-443, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30628748
10.
AAVrh-10 transduces outer retinal cells in rodents and rabbits following intravitreal administration.
Gene Ther
; 26(9): 386-398, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31308478
11.
REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival.
Hum Mol Genet
; 26(12): 2218-2230, 2017 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28369466
12.
Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations.
Proc Natl Acad Sci U S A
; 113(21): E2925-34, 2016 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-27162334
13.
Tamoxifen Provides Structural and Functional Rescue in Murine Models of Photoreceptor Degeneration.
J Neurosci
; 37(12): 3294-3310, 2017 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-28235894
14.
A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degeneration.
Hum Mol Genet
; 24(14): 3956-70, 2015 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25877300
15.
Mouse model of human RPE65 P25L hypomorph resembles wild type under normal light rearing but is fully resistant to acute light damage.
Hum Mol Genet
; 24(15): 4417-28, 2015 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25972377
16.
Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy.
Hum Mol Genet
; 24(22): 6446-58, 2015 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26358772
17.
Wnt signaling in age-related macular degeneration: human macular tissue and mouse model.
J Transl Med
; 13: 330, 2015 Oct 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26476672
18.
In vivo electroretinographic studies of the role of GABAC receptors in retinal signal processing.
Exp Eye Res
; 139: 48-63, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26164072
19.
Identification of a new mutant allele, Grm6(nob7), for complete congenital stationary night blindness.
Vis Neurosci
; 32: E004, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26241901
20.
In vivo function of the ER-Golgi transport protein LMAN1 in photoreceptor homeostasis.
Adv Exp Med Biol
; 801: 395-9, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24664723