Detalhe da pesquisa
1.
The Rac-GAP alpha2-Chimaerin Signals via CRMP2 and Stathmins in the Development of the Ocular Motor System.
J Neurosci
; 41(31): 6652-6672, 2021 08 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34168008
2.
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
3.
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
4.
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
5.
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
6.
Cilia in hereditary cerebral anomalies.
Biol Cell
; 111(9): 217-231, 2019 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-31177551
7.
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
J Am Soc Nephrol
; 28(10): 2901-2914, 2017 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-28566479
8.
Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.
J Bone Miner Res
; 37(9): 1642-1652, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35748595
9.
KIF14 controls ciliogenesis via regulation of Aurora A and is important for Hedgehog signaling.
J Cell Biol
; 219(6)2020 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32348467
10.
Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.
Eur J Med Genet
; 61(12): 755-758, 2018 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-30121372
11.
TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly.
Eur J Med Genet
; 61(12): 729-732, 2018 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-29758293