Detalhe da pesquisa
1.
Agonists of prostaglandin E2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies.
Proc Natl Acad Sci U S A
; 119(18): e2115960119, 2022 05 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35482924
2.
Repurposing small molecules for nephronophthisis and related renal ciliopathies.
Kidney Int
; 104(2): 245-253, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37244473
3.
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Kidney Int
; 104(2): 378-387, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37230223
4.
EFA6A, an exchange factor for Arf6, regulates early steps in ciliogenesis.
J Cell Sci
; 134(2)2021 01 22.
Artigo
Inglês
| MEDLINE | ID: mdl-33483367
5.
TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways.
Am J Hum Genet
; 104(2): 348-355, 2019 02 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30661770
6.
Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.
Hum Mol Genet
; 28(16): 2720-2737, 2019 08 15.
Artigo
Inglês
| MEDLINE | ID: mdl-31042281
7.
Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.
Hum Mol Genet
; 28(5): 778-795, 2019 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30388224
8.
Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment.
Kidney Int
; 98(4): 958-969, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32505465
9.
Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.
Hum Mol Genet
; 27(2): 266-282, 2018 01 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29121203
10.
Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development.
Hum Mol Genet
; 27(2): 224-238, 2018 01 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29077851
11.
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
Am J Hum Genet
; 100(2): 323-333, 2017 02 02.
Artigo
Inglês
| MEDLINE | ID: mdl-28089251
12.
Ciliary kinesins beyond IFT: Cilium length, disassembly, cargo transport and signalling.
Biol Cell
; 111(4): 79-94, 2019 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-30720881
13.
Cilia in hereditary cerebral anomalies.
Biol Cell
; 111(9): 217-231, 2019 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-31177551
14.
αTAT1 catalyses microtubule acetylation at clathrin-coated pits.
Nature
; 502(7472): 567-70, 2013 Oct 24.
Artigo
Inglês
| MEDLINE | ID: mdl-24097348
15.
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.
PLoS Genet
; 12(3): e1005894, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26967905
16.
C-terminal oligomerization of podocin mediates interallelic interactions.
Biochim Biophys Acta Mol Basis Dis
; 1864(7): 2448-2457, 2018 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-29660491
17.
Lysosomal Targeting of Cystinosin Requires AP-3.
Traffic
; 16(7): 712-26, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-25753619
18.
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
Am J Hum Genet
; 94(2): 288-94, 2014 Feb 06.
Artigo
Inglês
| MEDLINE | ID: mdl-24439109
19.
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.
Am J Hum Genet
; 94(6): 905-14, 2014 Jun 05.
Artigo
Inglês
| MEDLINE | ID: mdl-24882706
20.
Distinct functional outputs of PTEN signalling are controlled by dynamic association with ß-arrestins.
EMBO J
; 30(13): 2557-68, 2011 Jun 03.
Artigo
Inglês
| MEDLINE | ID: mdl-21642958