Detalhe da pesquisa
1.
Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans.
Hum Mol Genet
; 31(10): 1574-1587, 2022 05 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34964473
2.
A complement factor H homolog, heparan sulfation, and syndecan maintain inversin compartment boundaries in C. elegans cilia.
Proc Natl Acad Sci U S A
; 118(16)2021 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33859044
3.
Dawn and dusk peaks of outer segment phagocytosis, and visual cycle function require Rab28.
FASEB J
; 36(5): e22309, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35471581
4.
Endosome maturation factors Rabenosyn-5/VPS45 and caveolin-1 regulate ciliary membrane and polycystin-2 homeostasis.
EMBO J
; 37(9)2018 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29572244
5.
Rab35 controls cilium length, function and membrane composition.
EMBO Rep
; 20(10): e47625, 2019 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31432619
6.
Role for intraflagellar transport in building a functional transition zone.
EMBO Rep
; 19(12)2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30429209
7.
Formation of the transition zone by Mks5/Rpgrip1L establishes a ciliary zone of exclusion (CIZE) that compartmentalises ciliary signalling proteins and controls PIP2 ciliary abundance.
EMBO J
; 34(20): 2537-56, 2015 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-26392567
8.
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.
PLoS Biol
; 14(3): e1002416, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26982032
9.
Structural and Functional Recovery of Sensory Cilia in C. elegans IFT Mutants upon Aging.
PLoS Genet
; 12(12): e1006325, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27906968
10.
Whole-Organism Developmental Expression Profiling Identifies RAB-28 as a Novel Ciliary GTPase Associated with the BBSome and Intraflagellar Transport.
PLoS Genet
; 12(12): e1006469, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27930654
11.
Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.
Hum Mol Genet
; 25(9): 1824-35, 2016 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26908619
12.
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
J Med Genet
; 54(6): 371-380, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28289185
13.
Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling.
PLoS Genet
; 11(11): e1005627, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26540106
14.
Transmembrane protein OSTA-1 shapes sensory cilia morphology via regulation of intracellular membrane trafficking in C. elegans.
Development
; 140(7): 1560-72, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23482491
15.
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
16.
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
Am J Hum Genet
; 89(6): 713-30, 2011 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22152675
17.
The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization.
EMBO Rep
; 13(7): 608-18, 2012 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-22653444
18.
Transport and barrier mechanisms that regulate ciliary compartmentalization and ciliopathies.
Nat Rev Nephrol
; 20(2): 83-100, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37872350
19.
Localization of a guanylyl cyclase to chemosensory cilia requires the novel ciliary MYND domain protein DAF-25.
PLoS Genet
; 6(11): e1001199, 2010 Nov 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-21124868
20.
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.
Nat Genet
; 36(9): 989-93, 2004 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-15314642