Detalhe da pesquisa
1.
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
PLoS Genet
; 19(6): e1010796, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37315079
2.
Prph2 initiates outer segment morphogenesis but maturation requires Prph2/Rom1 oligomerization.
Hum Mol Genet
; 28(3): 459-475, 2019 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30307502
3.
Loss of Arf4 causes severe degeneration of the exocrine pancreas but not cystic kidney disease or retinal degeneration.
PLoS Genet
; 13(4): e1006740, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28410364
4.
Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa.
Hum Mol Genet
; 26(3): 509-518, 2017 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28053051
5.
Retinal Degeneration Slow (RDS) Glycosylation Plays a Role in Cone Function and in the Regulation of RDS·ROM-1 Protein Complex Formation.
J Biol Chem
; 290(46): 27901-13, 2015 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-26420485
6.
The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse.
Hum Mol Genet
; 23(23): 6260-74, 2014 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25001182
7.
Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS.
Hum Mol Genet
; 23(12): 3102-14, 2014 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24463884
8.
RDS Functional Domains and Dysfunction in Disease.
Adv Exp Med Biol
; 854: 217-22, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26427414
9.
Electrophysiological characterization of rod and cone responses in the baboon nonhuman primate model.
Adv Exp Med Biol
; 801: 67-73, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24664682
10.
Structural and functional relationships between photoreceptor tetraspanins and other superfamily members.
Cell Mol Life Sci
; 69(7): 1035-47, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21655915
11.
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
medRxiv
; 2023 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36865301
12.
Differences in RDS trafficking, assembly and function in cones versus rods: insights from studies of C150S-RDS.
Hum Mol Genet
; 19(24): 4799-812, 2010 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20858597
13.
E3 ubiquitin ligase Wwp1 regulates ciliary dynamics of the Hedgehog receptor Smoothened.
J Cell Biol
; 220(9)2021 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34161574
14.
Rab34 is necessary for early stages of intracellular ciliogenesis.
Curr Biol
; 31(13): 2887-2894.e4, 2021 07 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33989524
15.
Ubiquitin links smoothened to intraflagellar transport to regulate Hedgehog signaling.
J Cell Biol
; 219(7)2020 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32435793
16.
Tethering of vesicles to the Golgi by GMAP210 controls LAT delivery to the immune synapse.
Nat Commun
; 10(1): 2864, 2019 06 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31253807
17.
Ift25 is not a cystic kidney disease gene but is required for early steps of kidney development.
Mech Dev
; 151: 10-17, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29626631
18.
PRPH2/RDS and ROM-1: Historical context, current views and future considerations.
Prog Retin Eye Res
; 52: 47-63, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26773759
19.
SNAREs Interact with Retinal Degeneration Slow and Rod Outer Segment Membrane Protein-1 during Conventional and Unconventional Outer Segment Targeting.
PLoS One
; 10(9): e0138508, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26406599
20.
Defects in the outer limiting membrane are associated with rosette development in the Nrl-/- retina.
PLoS One
; 7(3): e32484, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22427845