Detalhe da pesquisa
1.
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Brain
; 147(6): 2085-2097, 2024 Jun 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38735647
2.
IL-27-producing B-1a cells suppress neuroinflammation and CNS autoimmune diseases.
Proc Natl Acad Sci U S A
; 118(47)2021 11 23.
Artigo
Inglês
| MEDLINE | ID: mdl-34782464
3.
Ablation of pigment epithelium-derived factor receptor (PEDF-R/Pnpla2) causes photoreceptor degeneration.
J Lipid Res
; 64(5): 100358, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36934843
4.
GATD3A, a mitochondrial deglycase with evolutionary origins from gammaproteobacteria, restricts the formation of advanced glycation end products.
BMC Biol
; 20(1): 68, 2022 03 21.
Artigo
Inglês
| MEDLINE | ID: mdl-35307029
5.
Restoration of RPGR expression in vivo using CRISPR/Cas9 gene editing.
Gene Ther
; 29(1-2): 81-93, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34257417
6.
Photoreceptor Cells Constitutively Express IL-35 and Promote Ocular Immune Privilege.
Int J Mol Sci
; 23(15)2022 Jul 24.
Artigo
Inglês
| MEDLINE | ID: mdl-35897732
7.
A Bietti Crystalline Dystrophy Mouse Model Shows Increased Sensitivity to Light-Induced Injury.
Int J Mol Sci
; 23(21)2022 Oct 28.
Artigo
Inglês
| MEDLINE | ID: mdl-36361898
8.
Expression of a TMC6-TMC8-CIB1 heterotrimeric complex in lymphocytes is regulated by each of the components.
J Biol Chem
; 295(47): 16086-16099, 2020 11 20.
Artigo
Inglês
| MEDLINE | ID: mdl-32917726
9.
Targeted deletion of an NRL- and CRX-regulated alternative promoter specifically silences FERM and PDZ domain containing 1 (Frmpd1) in rod photoreceptors.
Hum Mol Genet
; 28(5): 804-817, 2019 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30445545
10.
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
Inglês
| MEDLINE | ID: mdl-31332443
11.
The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.
Hum Mol Genet
; 28(9): 1530-1547, 2019 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30602030
12.
Retbindin mediates light-damage in mouse retina while its absence leads to premature retinal aging.
Exp Eye Res
; 209: 108698, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34228964
13.
Endogenous miR-204 Protects the Kidney against Chronic Injury in Hypertension and Diabetes.
J Am Soc Nephrol
; 31(7): 1539-1554, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32487559
14.
CDC14A phosphatase is essential for hearing and male fertility in mouse and human.
Hum Mol Genet
; 27(5): 780-798, 2018 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29293958
15.
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
Inglês
| MEDLINE | ID: mdl-28484004
16.
Reciprocal Negative Regulation Between Lmx1a and Lmo4 Is Required for Inner Ear Formation.
J Neurosci
; 38(23): 5429-5440, 2018 06 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29769265
17.
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
Inglês
| MEDLINE | ID: mdl-30628748
18.
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
Inglês
| MEDLINE | ID: mdl-28369466
19.
Centrosomal protein CP110 controls maturation of the mother centriole during cilia biogenesis.
Development
; 143(9): 1491-501, 2016 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-26965371
20.
The klotho-related protein KLPH (lctl) has preferred expression in lens and is essential for expression of clic5 and normal lens suture formation.
Exp Eye Res
; 169: 111-121, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29425878