Detalhe da pesquisa
1.
RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP).
Hum Mol Genet
; 29(22): 3706-3716, 2021 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33355362
2.
Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E.
Hum Mol Genet
; 25(20): 4533-4545, 2016 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28172980
3.
Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.
Hum Mol Genet
; 25(10): 2005-2012, 2016 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26936822
4.
Loss of human disease protein retinitis pigmentosa GTPase regulator (RPGR) differentially affects rod or cone-enriched retina.
Hum Mol Genet
; 25(7): 1345-56, 2016 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26908598
5.
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.
Hum Mol Genet
; 25(24): 5444-5459, 2016 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27798110
6.
More Than Meets the Eye: Current Understanding of RPGR Function.
Adv Exp Med Biol
; 1074: 521-538, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29721984
7.
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
8.
Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma.
Hum Genet
; 136(8): 941-949, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28620713
9.
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.
Hum Mol Genet
; 28(1): 175, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30285110
10.
Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa.
Proc Natl Acad Sci U S A
; 109(6): 2132-7, 2012 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-22308428
11.
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
Nat Genet
; 38(6): 674-81, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16682973
12.
OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome.
Hum Mol Genet
; 21(15): 3333-44, 2012 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22543976
13.
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
Nat Genet
; 37(3): 282-8, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15723066
14.
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein.
Hum Mol Genet
; 20(5): 975-87, 2011 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21159800
15.
Accumulation of the Raf-1 kinase inhibitory protein (Rkip) is associated with Cep290-mediated photoreceptor degeneration in ciliopathies.
J Biol Chem
; 286(32): 28276-86, 2011 Aug 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21685394
16.
Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development.
Hum Mol Genet
; 19(1): 90-8, 2010 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19815619
17.
Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration.
Hum Mol Genet
; 19(18): 3591-8, 2010 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20631154
18.
The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development.
Hum Mol Genet
; 19(22): 4330-44, 2010 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20729296
19.
Prenatal phenotype analysis and mutation identification of a fetus with meckel gruber syndrome.
Front Genet
; 13: 982127, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36061204
20.
"Ghost on the Coast": Persistent hallucinations through the prism of cultural concepts of distress.
Ind Psychiatry J
; 30(2): 353-355, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35017824