Detalhe da pesquisa
1.
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.
PLoS Genet
; 14(8): e1007602, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30148830
2.
Liver cyst gene knockout in cholangiocytes inhibits cilium formation and Wnt signaling.
Hum Mol Genet
; 26(21): 4190-4202, 2017 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973524
3.
The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.
PLoS Genet
; 11(10): e1005575, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26485645
4.
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
Am J Hum Genet
; 95(3): 257-74, 2014 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25192045
5.
Elution profile analysis of SDS-induced subcomplexes by quantitative mass spectrometry.
Mol Cell Proteomics
; 13(5): 1382-91, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24563533
6.
Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain.
PLoS Genet
; 9(12): e1003977, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24339792
7.
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.
Am J Hum Genet
; 90(1): 102-9, 2012 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22177090
8.
Non-syndromic retinal ciliopathies: translating gene discovery into therapy.
Hum Mol Genet
; 21(R1): R111-24, 2012 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22843501
9.
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.
Am J Hum Genet
; 89(5): 634-43, 2011 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-22019273
10.
Regulation of E2F1 by the von Hippel-Lindau tumour suppressor protein predicts survival in renal cell cancer patients.
J Pathol
; 231(1): 117-29, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23744542
11.
The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.
Hum Mol Genet
; 20(18): 3592-605, 2011 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21685204
12.
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
Am J Hum Genet
; 87(3): 418-23, 2010 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-20817137
13.
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.
J Med Genet
; 48(6): 390-5, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21378380
14.
Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.
Hum Mol Genet
; 18(1): 51-64, 2009 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18826961
15.
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
Am J Hum Genet
; 83(5): 559-71, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18950740
16.
All along the watchtower: is the cilium a tumor suppressor organelle?
Biochim Biophys Acta
; 1786(2): 114-25, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18343234
17.
CiliaCarta: An integrated and validated compendium of ciliary genes.
PLoS One
; 14(5): e0216705, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31095607
18.
Allele-specific regulation of primary cilia function by the von Hippel-Lindau tumor suppressor.
Eur J Hum Genet
; 16(1): 73-8, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17912253
19.
The von Hippel-Lindau tumour suppressor interacts with microtubules through kinesin-2.
FEBS Lett
; 581(24): 4571-6, 2007 Oct 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-17825299
20.
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.
Cilia
; 5: 8, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27069622