Detalhe da pesquisa
1.
CRISPR-Cas9-based treatment of myocilin-associated glaucoma.
Proc Natl Acad Sci U S A
; 114(42): 11199-11204, 2017 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973933
2.
BBS mutations modify phenotypic expression of CEP290-related ciliopathies.
Hum Mol Genet
; 23(1): 40-51, 2014 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23943788
3.
BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking.
J Cell Sci
; 126(Pt 11): 2372-80, 2013 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23572516
4.
BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes.
Hum Mol Genet
; 21(9): 1945-53, 2012 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22228099
5.
A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened.
PLoS Genet
; 7(11): e1002358, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22072986
6.
Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes.
Proc Natl Acad Sci U S A
; 108(51): 20678-83, 2011 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-22139371
7.
Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform.
PLoS Genet
; 6(3): e1000884, 2010 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-20333246
8.
Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling.
Hum Mol Genet
; 18(7): 1323-31, 2009 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19150989
9.
Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia.
Proc Natl Acad Sci U S A
; 105(9): 3380-5, 2008 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-18299575
10.
Ocular-specific ER stress reduction rescues glaucoma in murine glucocorticoid-induced glaucoma.
J Clin Invest
; 124(5): 1956-65, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24691439
11.
Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice.
PLoS One
; 8(3): e59101, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23554981
12.
Structural defects in cilia of the choroid plexus, subfornical organ and ventricular ependyma are associated with ventriculomegaly.
Fluids Barriers CNS
; 9(1): 22, 2012 Oct 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-23046663
13.
Topical ocular sodium 4-phenylbutyrate rescues glaucoma in a myocilin mouse model of primary open-angle glaucoma.
Invest Ophthalmol Vis Sci
; 53(3): 1557-65, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22328638
14.
Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model.
Nat Med
; 18(12): 1797-804, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23160237
15.
Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma.
J Clin Invest
; 121(9): 3542-53, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21821918
16.
Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma.
J Clin Invest
; 125(8): 3303, 2015 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26237042
17.
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
Am J Hum Genet
; 72(2): 429-37, 2003 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-12524598