Detalhe da pesquisa
1.
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
Cell
; 150(3): 533-48, 2012 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-22863007
2.
PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation.
Proc Natl Acad Sci U S A
; 117(18): 9922-9931, 2020 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32312818
3.
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
4.
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.
Am J Hum Genet
; 101(5): 824-832, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29106825
5.
Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.
J Med Genet
; 54(9): 624-632, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28442542
6.
Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.
Hum Mol Genet
; 24(12): 3359-71, 2015 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25749990
7.
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.
Am J Hum Genet
; 95(2): 131-42, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25018096
8.
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
9.
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
10.
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
Nat Genet
; 39(7): 882-8, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17558407
11.
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
12.
FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.
Hum Mol Genet
; 21(23): 5174-84, 2012 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22940612
13.
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
14.
PDE6D Mediates Trafficking of Prenylated Proteins NIM1K and UBL3 to Primary Cilia.
Cells
; 12(2)2023 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672247
15.
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
Am J Hum Genet
; 85(4): 465-81, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19800048
16.
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
17.
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
18.
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
Nat Commun
; 11(1): 5520, 2020 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33139725
19.
A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling.
Cell Rep
; 28(7): 1907-1922.e6, 2019 08 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31412255
20.
CiliaCarta: An integrated and validated compendium of ciliary genes.
PLoS One
; 14(5): e0216705, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31095607