Detalhe da pesquisa
1.
Genes and molecular pathways underpinning ciliopathies.
Nat Rev Mol Cell Biol
; 18(9): 533-547, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28698599
2.
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.
Am J Hum Genet
; 108(1): 134-147, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33340455
3.
Composition, organization and mechanisms of the transition zone, a gate for the cilium.
EMBO Rep
; 23(12): e55420, 2022 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36408840
4.
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.
Am J Hum Genet
; 106(2): 143-152, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32032513
5.
Role for intraflagellar transport in building a functional transition zone.
EMBO Rep
; 19(12)2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30429209
6.
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
7.
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
8.
Accelerating Gene Discovery by Phenotyping Whole-Genome Sequenced Multi-mutation Strains and Using the Sequence Kernel Association Test (SKAT).
PLoS Genet
; 12(8): e1006235, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27508411
9.
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
10.
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
11.
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
12.
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
Am J Hum Genet
; 93(5): 915-25, 2013 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24140113
13.
Ciliopathy proteins establish a bipartite signaling compartment in a C. elegans thermosensory neuron.
J Cell Sci
; 127(Pt 24): 5317-30, 2014 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25335890
14.
Identification of 526 conserved metazoan genetic innovations exposes a new role for cofactor E-like in neuronal microtubule homeostasis.
PLoS Genet
; 9(10): e1003804, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24098140
15.
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
Nat Genet
; 38(6): 674-81, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16682973
16.
Quality control of cytoskeletal proteins and human disease.
Trends Biochem Sci
; 35(5): 288-97, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20116259
17.
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
18.
Ciliogenesis in Caenorhabditis elegans requires genetic interactions between ciliary middle segment localized NPHP-2 (inversin) and transition zone-associated proteins.
J Cell Sci
; 125(Pt 11): 2592-603, 2012 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22393243
19.
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
20.
Mutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegans.
PLoS Genet
; 7(10): e1002335, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22022287