E-LIB Suche - Ergebnisse für: Roepman, Ronald

1

DLG1 functions upstream of SDCCAG3 and IFT20 to control cil..:

Rezi, Csenge K ; Aslanyan, Mariam G ; Diwan, Gaurav D...
EMBO Reports. , 2024

Link: https://doi.org/10.1038/..

2

Utilization of automated cilia analysis to characterize nov..:

Whiting, Kae R. ; Haer-Wigman, Lonneke ; Florijn, Ralph J....
European Journal of Human Genetics. , 2024

Link: https://doi.org/10.1038/..

3

Generation of induced pluripotent stem cell line carrying f..:

Dyke, Emma ; Bijnagte-Schoenmaker, Chantal ; Wu, Ka Man...
Stem Cell Research. 68 (2023) - p. 103053 , 2023

Link: https://doi.org/10.1016/..

4

A targeted multi-proteomics approach generates a blueprint ..:

Aslanyan, Mariam G. ; Doornbos, Cenna ; Diwan, Gaurav D....
Frontiers in Cell and Developmental Biology. 11 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

5

PDE6D Mediates Trafficking of Prenylated Proteins NIM1K and..:

Faber, Siebren ; Letteboer, Stef J. F. ; Junger, Katrin...
Cells. 12 (2023) 2 - p. 312 , 2023

Link: https://doi.org/10.3390/..

6

Gene augmentation of LCA5-associated Leber congenital amaur..:

Faber, Siebren ; Mercey, Olivier ; Junger, Katrin...
JCI Insight. 8 (2023) 10 - p. , 2023

Link: https://doi.org/10.1172/..

7

CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescu..:

Afanasyeva, Tess A.V. ; Athanasiou, Dimitra ; Perdigao, Pedro R.L....
Molecular Therapy - Methods & Clinical Development. 29 (2023) - p. 522-531 , 2023

Link: https://doi.org/10.1016/..

8

De novo missense variants in RRAGC lead to a fatal mTORopat..:

Reijnders, Margot R.F. ; Seibt, Annette ; Brugger, Melanie...
Genetics in Medicine. 25 (2023) 7 - p. 100838 , 2023

Link: https://doi.org/10.1016/..

9

Primary cilia sense glutamine availability and respond via ..:

Steidl, Maria Elena ; Nigro, Elisa A. ; Nielsen, Anne Kallehauge...
Nature Metabolism. 5 (2023) 3 - p. 385-397 , 2023

Link: https://doi.org/10.1038/..

10

A defective structural zipper in photoreceptors causes inhe..:

Faber, Siebren ; Roepman, Ronald
PLOS Biology. 20 (2022) 6 - p. e3001672 , 2022

Link: https://doi.org/10.1371/..

11

PCARE requires coiled coil, RP62 kinase-binding and EVH1 do..:

Afanasyeva, Tess A V ; Schnellbach, Yan-Ting ; Gibson, Toby J..
Human Molecular Genetics. 31 (2022) 15 - p. 2560-2570 , 2022

Link: https://doi.org/10.1093/..

12

Artificial intelligence: A powerful paradigm for scientific..:

Xu, Yongjun ; Liu, Xin ; Cao, Xin...
The Innovation. 2 (2021) 4 - p. 100179 , 2021

Link: https://doi.org/10.1016/..

13

Moonlighting of mitotic regulators in cilium disassembly:

Doornbos, Cenna ; Roepman, Ronald
Cellular and Molecular Life Sciences. 78 (2021) 11 - p. 4955-4972 , 2021

Link: https://doi.org/10.1007/..

14

Cell-based assay for ciliopathy patients to improve accurat..:

Doornbos, Cenna ; van Beek, Ronald ; Bongers, Ernie M. H. F....
European Journal of Human Genetics. 29 (2021) 11 - p. 1677-1689 , 2021

Link: https://doi.org/10.1038/..

15

A look into retinal organoids: methods, analytical techniqu..:

Afanasyeva, Tess A. V. ; Corral-Serrano, Julio C. ; Garanto, Alejandro...
Cellular and Molecular Life Sciences. 78 (2021) 19-20 - p. 6505-6532 , 2021

Link: https://doi.org/10.1007/..