Detalhe da pesquisa
1.
Rat Model of Type 2 Diabetes Mellitus Recapitulates Human Disease in the Anterior Segment of the Eye.
Am J Pathol
; 194(6): 1090-1105, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38403162
2.
BBS4 is required for intraflagellar transport coordination and basal body number in mammalian olfactory cilia.
J Cell Sci
; 132(5)2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30665891
3.
BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment.
PLoS Genet
; 13(10): e1007057, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29049287
4.
The BBSome Controls Energy Homeostasis by Mediating the Transport of the Leptin Receptor to the Plasma Membrane.
PLoS Genet
; 12(2): e1005890, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26926121
5.
Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome.
Mol Ther
; 25(4): 904-916, 2017 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28237838
6.
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
7.
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
8.
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.
Am J Hum Genet
; 86(5): 686-95, 2010 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-20398886
9.
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
10.
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
Nat Genet
; 31(4): 435-8, 2002 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12118255
11.
Metabolic and proteomic indications of diabetes progression in human aqueous humor.
PLoS One
; 18(1): e0280491, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36652491
12.
Inactivation of Bardet-Biedl syndrome genes causes kidney defects.
Am J Physiol Renal Physiol
; 300(2): F574-80, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21106857
13.
Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome.
J Clin Invest
; 118(4): 1458-67, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18317593
14.
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
15.
Mitophagy: An Emerging Target in Ocular Pathology.
Invest Ophthalmol Vis Sci
; 62(3): 22, 2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33724294
16.
Solubilized ubiquinol for preserving corneal function.
Biomaterials
; 275: 120842, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087583
17.
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.
Hum Mutat
; 31(4): 429-36, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20120035
18.
Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity.
Genet Med
; 12(10): 623-7, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20949666
19.
New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping.
Mol Vis
; 16: 137-43, 2010 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20142850
20.
A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.
Proc Natl Acad Sci U S A
; 104(49): 19422-7, 2007 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-18032602