D. A. Mans

发表

Regulation of E2F1 by the von Hippel–Lindau tumour suppressor protein predicts survival in renal cell cancer patients

P. V. van Diest, R. Roepman, J. van Reeuwijk, 2013, The Journal of pathology.

CiliaCarta: An integrated and validated compendium of ciliary genes

Colin A. Johnson, Robin van der Lee, T. Gibson, 2017, bioRxiv.

C 14 ORF 179 encoding IFT 43 is mutated in Sensenbrenner syndrome

J. Schuurs-Hoeijmakers, E. Bongers, H. Brunner, 2019 .

Explorer An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Teunis J. P. van Dam, T. Gibson, M. Huynen, 2016 .

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Colin A. Johnson, Teunis J. P. van Dam, J. Shendure, 2015, Nature Cell Biology.

The von Hippel–Lindau tumour suppressor interacts with microtubules through kinesin‐2

E. Voest, R. Giles, M. Lolkema, 2007, FEBS letters.

Liver cyst gene knockout in cholangiocytes inhibits cilium formation and Wnt signaling

R. Roepman, M. Ueffing, J. van Reeuwijk, 2017, Human molecular genetics.

Allele-specific regulation of primary cilia function by the von Hippel–Lindau tumor suppressor

E. Voest, R. Giles, M. Lolkema, 2008, European Journal of Human Genetics.

DYX1C1 is required for axonemal dynein assembly and ciliary motility

H. Omran, S. Letteboer, R. Roepman, 2013, Nature Genetics.

The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.

S. Letteboer, R. Roepman, M. Ueffing, 2011, Human molecular genetics.

Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.

C. Cremers, S. Letteboer, R. Roepman, 2009, Human molecular genetics.

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.

A. Hoischen, R. Pfundt, J. Veltman, 2011, American journal of human genetics.

Shaping of tumor and drug-resistant genomes by instability and selection

Jane Fridlyand, Ajay N. Jain, Ajay N Jain, 2003, Oncogene.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Shane A. McCarthy, R. Durbin, Klaudia Walter, 2016, Nature Communications.

The von Hippel–Lindau tumor suppressor regulates programmed cell death 5-mediated degradation of Mdm2

K. Boldt, P. Essers, A. MacInnes, 2014, Oncogene.

All along the watchtower: is the cilium a tumor suppressor organelle?

E. Voest, R. Giles, D. Mans, 2008, Biochimica et biophysica acta.

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

H. Omran, S. Letteboer, R. Roepman, 2014, American journal of human genetics.

Non-syndromic retinal ciliopathies: translating gene discovery into therapy.

A. D. den Hollander, R. Roepman, F. Cremers, 2012, Human molecular genetics.

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.

Christian Gilissen, Alexander Hoischen, Han G Brunner, 2010, American journal of human genetics.

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

H. Omran, S. Letteboer, R. Roepman, 2014, American Journal of Human Genetics.

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

H. Omran, S. Letteboer, R. Roepman, 2018, PLoS genetics.

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

Carolyn M Hutter, Edwin W Rubel, Michael Dorschner, 2008, American journal of human genetics.

Active Transport and Diffusion Barriers Restrict Joubert Syndrome-Associated ARL13B/ARL-13 to an Inv-like Ciliary Membrane Subdomain

S. Cevik, S. Letteboer, L. Hetterschijt, 2013, PLoS genetics.

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

J. Schuurs-Hoeijmakers, N. de Leeuw, E. Bongers, 2011, Journal of Medical Genetics.

Mobility of the von Hippel-Lindau tumour suppressor protein is regulated by kinesin-2.

E. Voest, R. Giles, M. Lolkema, 2008, Experimental cell research.

The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking

L. Hetterschijt, R. Roepman, M. Ueffing, 2015, PLoS genetics.

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.

B. J. Klevering, J. Veltman, A. D. den Hollander, 2012, American journal of human genetics.

Interplay between VHL/HIF1α and Wnt/β-catenin pathways during colorectal tumorigenesis

H. Clevers, E. Voest, R. Goldschmeding, 2006, Oncogene.

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Gail Clement, Jie Huang, Inês Barroso, 2016, Nature Communications.

Elution Profile Analysis of SDS-induced Subcomplexes by Quantitative Mass Spectrometry*

T. Gibson, R. Roepman, M. Ueffing, 2014, Molecular & Cellular Proteomics.

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Tom R. Gaunt, Thomas M. Keane, Colin A. Johnson, 2015, Nature Communications.