Detalhe da pesquisa
1.
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.
Hum Mol Genet
; 32(4): 595-607, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36084042
2.
A Proximity Complementation Assay to Identify Small Molecules That Enhance the Traffic of ABCA4 Misfolding Variants.
Int J Mol Sci
; 25(8)2024 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38674104
3.
AAV-mediated ERdj5 overexpression protects against P23H rhodopsin toxicity.
Hum Mol Genet
; 29(8): 1310-1318, 2020 05 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196553
4.
New variants and in silico analyses in GRK1 associated Oguchi disease.
Hum Mutat
; 42(2): 164-176, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33252155
5.
The role of the ER stress-response protein PERK in rhodopsin retinitis pigmentosa.
Hum Mol Genet
; 26(24): 4896-4905, 2017 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29036441
6.
The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6.
Hum Mol Genet
; 26(22): 4465-4480, 2017 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973376
7.
Rescue of mutant rhodopsin traffic by metformin-induced AMPK activation accelerates photoreceptor degeneration.
Hum Mol Genet
; 26(2): 305-319, 2017 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28065882
8.
REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking.
Hum Mol Genet
; 26(14): 2667-2677, 2017 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28475715
9.
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.
Am J Hum Genet
; 98(1): 75-89, 2016 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26749309
10.
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.
Am J Hum Genet
; 99(6): 1305-1315, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27889058
11.
The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6.
Hum Mol Genet
; 27(7): 1309, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29351602
12.
Encephalic photoreception and phototactic response in the troglobiont Somalian blind cavefish Phreatichthys andruzzii.
J Exp Biol
; 215(Pt 16): 2898-903, 2012 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22837464
13.
Adaptation of pineal expressed teleost exo-rod opsin to non-image forming photoreception through enhanced Meta II decay.
Cell Mol Life Sci
; 68(22): 3713-23, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21416149
14.
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.
NPJ Genom Med
; 7(1): 60, 2022 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36266294
15.
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision.
Nat Commun
; 13(1): 6595, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36329026
16.
A system of coordinated autonomous robots for Lagrangian studies of microbes in the oceanic deep chlorophyll maximum.
Sci Robot
; 6(50)2021 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34043577
17.
Differential expression of two distinct functional isoforms of melanopsin (Opn4) in the mammalian retina.
J Neurosci
; 29(39): 12332-42, 2009 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-19793992
18.
Evolution of melanopsin photoreceptors: discovery and characterization of a new melanopsin in nonmammalian vertebrates.
PLoS Biol
; 4(8): e254, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16856781
19.
Ten robotics technologies of the year.
Sci Robot
; 4(26)2019 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33137759
20.
The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy.
Prog Retin Eye Res
; 62: 1-23, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29042326