Detalhe da pesquisa
1.
Genomic knockout of alms1 in zebrafish recapitulates Alström syndrome and provides insight into metabolic phenotypes.
Hum Mol Genet
; 28(13): 2212-2223, 2019 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31220269
2.
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Clin Genet
; 99(2): 318-324, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33169370
3.
Differential effects on ß-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes.
Hum Mol Genet
; 25(1): 57-68, 2016 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26494903
4.
TM6SF2 rs58542926 impacts lipid processing in liver and small intestine.
Hepatology
; 65(5): 1526-1542, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28027591
5.
Basal body proteins regulate Notch signaling through endosomal trafficking.
J Cell Sci
; 127(Pt 11): 2407-19, 2014 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24681783
6.
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
Nat Genet
; 38(5): 521-4, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16582908
7.
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.
Nat Genet
; 37(10): 1135-40, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16170314
8.
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
Nat Genet
; 37(3): 275-81, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15731757
9.
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.
Proc Natl Acad Sci U S A
; 107(23): 10602-7, 2010 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-20498079
10.
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.
Nat Genet
; 36(9): 994-8, 2004 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-15322545
11.
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression.
Nat Genet
; 36(5): 462-70, 2004 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15107855
12.
Genetic deletion of trkB.T1 increases neuromuscular function.
Am J Physiol Cell Physiol
; 302(1): C141-53, 2012 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21865582
13.
Dissection of epistasis in oligogenic Bardet-Biedl syndrome.
Nature
; 439(7074): 326-30, 2006 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-16327777
14.
Brain-derived neurotrophic factor modulates antiretroviral-induced mechanical allodynia in the mouse.
J Neurosci Res
; 89(10): 1551-65, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21647939
15.
An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes.
PLoS Genet
; 4(3): e1000044, 2008 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-18369462
16.
Exocrine pancreas proteases regulate ß-cell proliferation in zebrafish ciliopathy models and in murine systems.
Biol Open
; 10(6)2021 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34125181
17.
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.
Nature
; 425(6958): 628-33, 2003 Oct 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-14520415
18.
In vivo evidence that truncated trkB.T1 participates in nociception.
Mol Pain
; 5: 61, 2009 Oct 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-19874592
19.
Genome-wide screen identifies drug-induced regulation of the gene giant axonal neuropathy (Gan) in a mouse model of antiretroviral-induced painful peripheral neuropathy.
Biol Res Nurs
; 11(1): 7-16, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19398414
20.
ZRANB3 is an African-specific type 2 diabetes locus associated with beta-cell mass and insulin response.
Nat Commun
; 10(1): 3195, 2019 07 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-31324766