E-LIB Suche - Ergebnisse für: Mans, Dorus A

1

CiliaCarta: An integrated and validated compendium of cilia..:

van Dam, Teunis J. P. ; Kennedy, Julie ; van der Lee, Robin...
PLOS ONE. 14 (2019) 5 - p. e0216705 , 2019

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

2

Homozygous loss-of-function mutations in MNS1 cause lateral..:

Ta-Shma, Asaf ; Hjeij, Rim ; Perles, Zeev...
PLOS Genetics. 14 (2018) 8 - p. e1007602 , 2018

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

3

Liver cyst gene knockout in cholangiocytes inhibits cilium ..:

Wills, Edgar S ; te Morsche, René H M ; van Reeuwijk, Jeroen...
Human Molecular Genetics. 26 (2017) 21 - p. 4190-4202 , 2017

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

4

Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune ..:

Schmidts, Miriam ; Hou, Yuqing ; Cortés, Claudio R....
Nature Communications. 7 (2016) 1 - p. , 2016

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

5

A novel ICK mutation causes ciliary disruption and lethal e..:

Oud, Machteld M. ; Bonnard, Carine ; Mans, Dorus A....
Cilia. 5 (2016) 1 - p. , 2016

Link: https://doi.org/10.1186/..

6

An organelle-specific protein landscape identifies novel di..:

Boldt, Karsten ; van Reeuwijk, Jeroen ; Lu, Qianhao...
Nature Communications. 7 (2016) 1 - p. , 2016

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

7

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dys..:

Schmidts, Miriam ; Hou, Yuqing ; Cortés, Claudio R....
Nature Communications. 6 (2015) 1 - p. , 2015

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

8

The Ciliopathy Protein CC2D2A Associates with NINL and Func..:

Bachmann-Gagescu, Ruxandra ; Dona, Margo ; Hetterschijt, Lisette...
PLOS Genetics. 11 (2015) 10 - p. e1005575 , 2015

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

9

An siRNA-based functional genomics screen for the identific..:

UK10K Consortium ; Wheway, Gabrielle ; Schmidts, Miriam...
Nature Cell Biology. 17 (2015) 8 - p. 1074-1087 , 2015

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

10

Elution Profile Analysis of SDS-induced Subcomplexes by Qua..:

Texier, Yves ; Toedt, Grischa ; Gorza, Matteo...
Molecular & Cellular Proteomics. 13 (2014) 5 - p. 1382-1391 , 2014

Link: https://doi.org/10.1074/..

11

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disru..:

Hjeij, Rim ; Onoufriadis, Alexandros ; Watson, Christopher M....
The American Journal of Human Genetics. 95 (2014) 3 - p. 257-274 , 2014

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

12

Active Transport and Diffusion Barriers Restrict Joubert Sy..:

Cevik, Sebiha ; Sanders, Anna A. W. M. ; Van Wijk, Erwin...
PLoS Genetics. 9 (2013) 12 - p. e1003977 , 2013

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

13

DYX1C1 is required for axonemal dynein assembly and ciliary..:

UK10K ; Tarkar, Aarti ; Loges, Niki T...
Nature Genetics. 45 (2013) 9 - p. 995-1003 , 2013

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

14

Regulation of E2F1 by the von Hippel-Lindau tumour suppress..:

Mans, Dorus A ; Vermaat, Joost S ; Weijts, Bart G...
The Journal of Pathology. 231 (2013) 1 - p. 117-129 , 2013

Link: https://doi.org/10.1002/..

15

Mutations in C8orf37, Encoding a Ciliary Protein, are Assoc..:

Estrada-Cuzcano, Alejandro ; Neveling, Kornelia ; Kohl, Susanne...
The American Journal of Human Genetics. 90 (2012) 1 - p. 102-109 , 2012

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