Detalhe da pesquisa
1.
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
em Inglês
| MEDLINE | ID: mdl-30388224
2.
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
em Inglês
| MEDLINE | ID: mdl-29121203
3.
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
Am J Hum Genet
; 97(2): 311-8, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26166481
4.
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.
Am J Hum Genet
; 94(6): 905-14, 2014 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24882706
5.
Septins 2, 7 and 9 and MAP4 colocalize along the axoneme in the primary cilium and control ciliary length.
J Cell Sci
; 126(Pt 12): 2583-94, 2013 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23572511
6.
Synaptoproteomic analysis of a rat gene-environment model of depression reveals involvement of energy metabolism and cellular remodeling pathways.
Int J Neuropsychopharmacol
; 18(3)2014 Oct 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-25522407
7.
Whole-genome screen identifies diverse pathways that negatively regulate ciliogenesis.
Mol Biol Cell
; 32(2): 169-185, 2021 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33206585
8.
A distal centriolar protein network controls organelle maturation and asymmetry.
Nat Commun
; 9(1): 3938, 2018 09 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30258116