Search Results - "Roepman, R."

Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse by 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

“…Synapse development and neuronal activity represent fundamental processes for the establishment of cognitive function. Structural organization as well as…”
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ARHGAP12 Functions as a Developmental Brake on Excitatory Synapse Function by Ba, W., Selten, M.M., van der Raadt, J., van Veen, H., Li, L.-L., Benevento, M., Oudakker, A.R., Lasabuda, R.S.E., Letteboer, S.J., Roepman, R., van Wezel, R.J.A., Courtney, M.J., van Bokhoven, H., Nadif Kasri, N.

“…The molecular mechanisms that promote excitatory synapse development have been extensively studied. However, the molecular events preventing precocious…”
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Identification of C12orf4 as a gene for autosomal recessive intellectual disability by Philips, A.K., Pinelli, M., de Bie, C.I., Mustonen, A., Määttä, T., Arts, H.H., Wu, K., Roepman, R., Moilanen, J.S., Raza, S., Varilo, T., Scala, G., Cocozza, S., Gilissen, C., van Gassen, K.L.I., Järvelä, I.

“…Intellectual disability (ID) is a major health problem in our society. Genetic causes of ID remain unknown because of its vast heterogeneity. Here we report…”
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A reference to assess cilium phenotype in ciliopathy patients by Oud, M, Arts, H, Roepman, R

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The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors by ROEPMAN, R, BERNOUD-HUBAC, N, SCHICK, D. E, MAUGERI, A, BERGER, W, ROPERS, H.-H, CREMERS, F. P. M, FERREIRA, P. A

“…Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene cause X-linked retinitis pigmentosa type 3 (RP3), a severe, progressive and degenerative…”
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A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes by 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

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Pericentrin interacts with KASH domain-containing protein Syne-2 by Falk, N, Kessler, K, Glöckner, J, Boldt, K, Ueffing, M, Roepman, R, Thiel, C, Brandstätter, JH, Gießl, A

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From proteomic data to networks: statistics and methods reveal ciliary protein interaction landscape by Lu, Q, Koutroumpas, K, Boldt, K, Reeuwijk, J Van, Katsanis, N, Képès, F, Roepman, R, Ueffing, M, Russell, RB

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

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Multidisciplinary nephrogenetic outpatient clinic combined with diagnostic exome sequencing for improved diagnostics and treatment by Lugtenberg, D, Arts, H, Reeuwijk, J Van, Cornelissen, E, Deegens, J, Hofstra, J, Wetzels, J, Gilissen, C, Roepman, R, Kamsteeg, E, Bongers, E

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A systems biology approach towards the prediction of ciliopathy mechanisms by 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

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PDZD7 connects the Usher protein complex to the intraflagellar transport machinery by 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

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

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KOUNCIL: Kidney-Oriented Understanding of Correcting Ciliopathies by 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

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RPGR Transcription Studies in Mouse and Human Tissues Reveal a Retina-Specific Isoform That Is Disrupted in a Patient With X-Linked Retinitis Pigmentosa by Kirschner, Renate, Rosenberg, Thomas, Schultz-Heienbrok, Robert, Lenzner, Steffen, Feil, Silke, Roepman, Ronald, Cremers, Frans P. M., Ropers, Hans-Hilger, Berger, Wolfgang

“…X-linked retinitis pigmentosa (XLRP) is a genetically heterogeneous group of progressive retinal degenerations. The disease process is initiated by premature…”
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Gene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151 by Onoufriadis, A, Hjeij, R, Watson, CM, Slagle, CE, Klena, NT, Dougherty, GW, Kurkowiak, M, Loges, NT, Diggle, CP, Morante, NF, Gabriel, GC, Lemke, KL, Li, Y, Pennekamp, P, Menchen, T, Marthin, JK, Mans, D, Letteboer, SJ, Werner, C, Burgoyne, T, Westermann, C, Rutman, A, Carr, IM, O'Callaghan, C, Moya, E, Chung, EMK, Sheridan, E, Nielsen, KG, Roepman, R, Burdine, RD, Lo, CW, Omran, H, Mitchison, H

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A systemic view on retinal ciliopathies: inherited retinal degeneration revisited by ROEPMAN, R

“…Although over 200 different genes causing inherited retinal degeneration (IRD) have been mapped to date, a number that is steadily increasing, the molecular…”
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Genomic organization, expression, and localization of murine Ran-binding protein 2 (RanBP2) gene by Fauser, S, Aslanukov, A, Roepman, R, Ferreira, P A

“…The Ran-binding protein 2 (RanBP2) is a giant scaffold and mosaic cyclophilin-related nucleoporin implicated in the Ran-GTPase cycle. There are no orthologs of…”
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Non-syndromic retinal ciliopathies: translating gene discovery into therapy by ESTRADA-CUZCANO, Alejandro, ROEPMAN, Ronald, CREMERS, Frans P. M, DEN HOLLANDER, Anneke I, MANS, Dorus A

“…Homozygosity mapping and exome sequencing have accelerated the discovery of gene mutations and modifier alleles implicated in inherited retinal degeneration in…”
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C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome by Arts, Heleen H, Bongers, Ernie M H F, Mans, Dorus A, van Beersum, Sylvia E C, Oud, Machteld M, Bolat, Emine, Spruijt, Liesbeth, Cornelissen, Elisabeth A M, Schuurs-Hoeijmakers, Janneke H M, de Leeuw, Nicole, Cormier-Daire, Valérie, Brunner, Han G, Knoers, Nine V A M, Roepman, Ronald

“…Sensenbrenner syndrome is a heterogeneous ciliopathy that is characterised by skeletal and ectodermal anomalies, accompanied by chronic renal failure, heart…”
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