A reference to assess cilium phenotype in ciliopathy patients

Por Oud, M, Arts, H, Roepman, R
Publicado no Cilia (2015)

Dissecting the sub-structure of the intraflagellar transport complex B

Por Texier, Y, van Reeuwijk, J, Mans, DA, Roepman, R, Boldt, K, Ueffing, M
Publicado em 2012

Identification of novel interaction partners for Vlgr1b/GPR98 - a key component of the periciliary Usher syndrome protein network in photoreceptor cells

Por Knapp, B, Letteboer, SJ, van Wijk, E, Boldt, K, Ueffing, M, Kremer, H, Roepman, R, Wolfrum, U
Publicado em 2012

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

Por Boldt, K, Mans, DA, Won, J, van Reeuwijk, J, Texier, Y, Nishina, PM, Roepman, R, Ueffing, M
Publicado em 2012

The Usher syndrome 1G protein SANS participates in the transport of ciliary cargo in photoreceptor cells

Por Sorusch, N, Bauß, K, Overlack, N, Kunz, A, van Wijk, E, Maerker, T, Roepman, R, Kremer, H, Wolfrum, U
Publicado em 2012

Pericentrin interacts with KASH domain-containing protein Syne-2

Por Falk, N, Kessler, K, Glöckner, J, Boldt, K, Ueffing, M, Roepman, R, Thiel, C, Brandstätter, JH, Gießl, A
Publicado no Cilia (2015)

From proteomic data to networks: statistics and methods reveal ciliary protein interaction landscape

Por Lu, Q, Koutroumpas, K, Boldt, K, Reeuwijk, J Van, Katsanis, N, Képès, F, Roepman, R, Ueffing, M, Russell, RB
Publicado no Cilia (2015)

Scrutinizing ciliopathies by unravelling the ciliary interactome

Por van Reeuwijk, J, Boldt, K, Mans, DA, Texier, Y, van Beersum, SE, Letteboer, SJ, Nguyen, MTT, Ueffing, M, Roepman, R
Publicado em 2012

Differential requirements of ciliogenic/ciliopathy module components in restricting Joubert syndrome-associated Arl13b to a C. elegans Inv-like ciliary compartment

Por Blacque, O, Cevik, S, Clarke, L, Van Wijk, E, Sanders, A, Van Reeuwijk, J, Boldt, K, Ueffing, M, Roepman, R, Kremer, H
Publicado em 2012

Multidisciplinary nephrogenetic outpatient clinic combined with diagnostic exome sequencing for improved diagnostics and treatment

Por Lugtenberg, D, Arts, H, Reeuwijk, J Van, Cornelissen, E, Deegens, J, Hofstra, J, Wetzels, J, Gilissen, C, Roepman, R, Kamsteeg, E, Bongers, E
Publicado no Cilia (2015)

A systems biology approach towards the prediction of ciliopathy mechanisms

Por Koutroumpas, K, Dam, J Van, Toedt, G, Lu, Q, Reeuwijk, J Van, Boldt, K, Gibson, T, Roepman, R, Ueffing, M, Russell, RB, Huynen, M, Elati, M, Képès, F
Publicado no Cilia (2015)

Identification of mutations in DYNC2LI1, a member of the mammalian cytoplasmic dynein 2 complex, expands the clinical spectrum of Jeune/ATD ciliopathies

Por Kessler, K, Falk, N, Wunderlich, I, Fröhlich, M, Hauer, N, Gießl, A, Brandstätter, JH, Sticht, H, Ekici, AB, Uebe, S, Seemanová, E, Reis, A, Roepman, R, Thiel, C
Publicado no Cilia (2015)

Systematic exploration of the ciliary protein landscape by large-scale affinity proteomics

Por Boldt, K, Van Reeuwijk, J, Lu, Q, Koutroumpas, K, Horn, N, Beersum, S Van, Texier, Y, Nguyen, TM, Willer, JR, Katsanis, N, Képès, F, Russell, RB, Ueffing, M, Roepman, R
Publicado no Cilia (2015)

PDZD7 connects the Usher protein complex to the intraflagellar transport machinery

Por Vrieze, E De, Creemers, L, Sorusch, N, Gorris, M, Reeuwijk, J Van, Beersum, S Van, Knapp, B, Boldt, K, Ueffing, M, Roepman, R, Wijk, E Van, Wolfram, U, Kremer, H
Publicado no Cilia (2015)

The lebercilin-like protein is embedded in a ciliary protein network and is preferentially expressed in motile cilia

Por Mans, DA, Coene, KLM, Boldt, K, Lamers, IJC, van Reeuwijk, J, Loges, NT, Bolat, E, Franke, L, Hetterschijt, L, Letteboer, SJF, Peters, TA, Omran, H, Cremers, FPM, Ueffing, M, Roepman, R
Publicado em 2012

SYSCILIA, “A systems biology approach to dissect cilia function and its disruption in human genetic disease”

Por Roepman, R, Ueffing, M, Kremer, H, Huynen, MA, Gibson, TJ, Katsanis, N, Walz, GT, Wolfrum, U, Franco, B, Giles, RH, Beales, PL, Johnson, CA, Blacque, OE, Pontoglio, M, Képès, F, Apic, G, Russell, RB, Omran, H
Publicado em 2012

Pitfalls of whole exome-sequencing: hidden DYNC2H1 mutations in patients with Jeune asphyxiating thoracic dystrophy

Por Arts, H, Schmidts, M, Bongers, EMHF, Oud, MM, Duijkers, LEM, Yap, Z, Stalker, J, Yntema, JL, Hoischen, A, Gilissen, C, Veltman, JA, Kutkowska-Kaźmierczak, A, Kamsteeg, EJ, Scambler, PJ, Beales, PL, Knoers, NVAM, Roepman, R, Mitchison, HM
Publicado em 2012

KOUNCIL: Kidney-Oriented Understanding of Correcting Ciliopathies

Por Stokman, M, Oud, M, Reeuwijk, J Van, Lilien, M, De Kar, N Van, Nijman, I, Gilissen, C, Kroes, HY, Bongers, E, Geijsen, N, Kamsteeg, E, Cuppen, E, Roepman, R, Giles, R, Renkema, K, Arts, H, Knoers, N
Publicado no Cilia (2015)

A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes

Por Szymanska, K, Wheway, G, Doherty, D, Schmidts, M, Mans, D, Nguyen, TMT, Boldt, K, Tödt, G, Abdelhamed, Z, Wunderlich, K, Natarajan, S, Parry, DA, Logan, CV, Herridge, W, Sorusch, N, Wolfrum, U, Ueffing, M, Roepman, R, Mitchison, H, Johnson, C
Publicado no Cilia (2015)

Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse

Por Ung, D C, Iacono, G, Méziane, H, Blanchard, E, Papon, M-A, Selten, M, van Rhijn, J-R, Montjean, R, Rucci, J, Martin, S, Fleet, A, Birling, M-C, Marouillat, S, Roepman, R, Selloum, M, Lux, A, Thépault, R-A, Hamel, P, Mittal, K, Vincent, J B, Dorseuil, O, Stunnenberg, H G, Billuart, P, Nadif Kasri, N, Hérault, Y, Laumonnier, F
Publicado no Mol Psychiatry (2018)