Detalhe da pesquisa
1.
Compound heterozygous IFT81 variations in a skeletal ciliopathy patient cause Bardet-Biedl syndrome-like ciliary defects.
Hum Mol Genet
; 32(19): 2887-2900, 2023 09 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37427975
2.
Molecular basis of ciliary defects caused by compound heterozygous IFT144/WDR19 mutations found in cranioectodermal dysplasia.
Hum Mol Genet
; 30(3-4): 213-225, 2021 04 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33517396
3.
Molecular basis underlying the ciliary defects caused by IFT52 variations found in skeletal ciliopathies.
Mol Biol Cell
; 33(9): ar83, 2022 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35704471
4.
Cooperation of the IFT-A complex with the IFT-B complex is required for ciliary retrograde protein trafficking and GPCR import.
Mol Biol Cell
; 32(1): 45-56, 2021 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33175651