Detalhe da pesquisa
1.
Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration.
Hum Mol Genet
; 33(4): 374-385, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37934784
2.
Pharmacologic fibroblast reprogramming into photoreceptors restores vision.
Nature
; 581(7806): 83-88, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32376950
3.
Protein kinase CK2 modulates the activity of Maf-family bZIP transcription factor NRL in rod photoreceptors of mammalian retina.
Hum Mol Genet
; 32(6): 948-958, 2023 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36226585
4.
Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy.
Hum Mol Genet
; 32(3): 431-449, 2023 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35997788
5.
Developmental genome-wide occupancy analysis of bZIP transcription factor NRL uncovers the role of c-Jun in early differentiation of rod photoreceptors in the mammalian retina.
Hum Mol Genet
; 31(22): 3914-3933, 2022 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35776116
6.
Multiomics analyses reveal early metabolic imbalance and mitochondrial stress in neonatal photoreceptors leading to cell death in Pde6brd1/rd1 mouse model of retinal degeneration.
Hum Mol Genet
; 31(13): 2137-2154, 2022 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35075486
7.
HiCRes: a computational method to estimate and predict the genomic resolution of Hi-C libraries.
Nucleic Acids Res
; 50(6): e35, 2022 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34928367
8.
Primary cilia biogenesis and associated retinal ciliopathies.
Semin Cell Dev Biol
; 110: 70-88, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32747192
9.
Reticular Pseudodrusen Status, ARMS2/HTRA1 Genotype, and Geographic Atrophy Enlargement: Age-Related Eye Disease Study 2 Report 32.
Ophthalmology
; 130(5): 488-500, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36481221
10.
FoxC1 activates limbal epithelial stem cells following corneal epithelial debridement.
Exp Eye Res
; 234: 109599, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37488009
11.
Network Biology and Medicine to Rescue: Applications for Retinal Disease Mechanisms and Therapy.
Adv Exp Med Biol
; 1415: 165-171, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37440030
12.
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
13.
A mega-analysis of expression quantitative trait loci in retinal tissue.
PLoS Genet
; 16(9): e1008934, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32870927
14.
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
em Inglês
| MEDLINE | ID: mdl-35307029
15.
Family-based exome sequencing identifies rare coding variants in age-related macular degeneration.
Hum Mol Genet
; 29(12): 2022-2034, 2020 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32246154
16.
Tbx2a Modulates Switching of RH2 and LWS Opsin Gene Expression.
Mol Biol Evol
; 37(7): 2002-2014, 2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32191319
17.
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
em Inglês
| MEDLINE | ID: mdl-30445545
18.
RNA Biology in Retinal Development and Disease.
Trends Genet
; 34(5): 341-351, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29395379
19.
Dietary Nutrient Intake and Progression to Late Age-Related Macular Degeneration in the Age-Related Eye Disease Studies 1 and 2.
Ophthalmology
; 128(3): 425-442, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32858063
20.
Pluripotent stem cell-derived retinal organoids for disease modeling and development of therapies.
Stem Cells
; 38(10): 1206-1215, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32506758