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17 results on '"Arts, Heleen H"'

3. Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy

Author

Stokman, Marijn F., van der Zwaag, Bert, van de Kar, Nicole C.A.J., van Haelst, Mieke M., van Eerde, Albertien M., van der Heijden, Joost W., Kroes, Hester Y., Ippel, Elly, Schulp, Annelien J.A., van Gassen, Koen L., van Rooij, Iris A.L.M., Giles, Rachel H., Beales, Philip L., Roepman, Ronald, Arts, Heleen H., Bongers, Ernie M.H.F., Renkema, Kirsten Y., Knoers, Nine V.A.M., van Reeuwijk, Jeroen, Lilien, Marc R., Stokman, Marijn F., van der Zwaag, Bert, van de Kar, Nicole C.A.J., van Haelst, Mieke M., van Eerde, Albertien M., van der Heijden, Joost W., Kroes, Hester Y., Ippel, Elly, Schulp, Annelien J.A., van Gassen, Koen L., van Rooij, Iris A.L.M., Giles, Rachel H., Beales, Philip L., Roepman, Ronald, Arts, Heleen H., Bongers, Ernie M.H.F., Renkema, Kirsten Y., Knoers, Nine V.A.M., van Reeuwijk, Jeroen, and Lilien, Marc R.

Published
2018

4. Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy

Author

Stokman, Marijn F., van der Zwaag, Bert, van de Kar, Nicole C.A.J., van Haelst, Mieke M., van Eerde, Albertien M., van der Heijden, Joost W., Kroes, Hester Y., Ippel, Elly, Schulp, Annelien J.A., van Gassen, Koen L., van Rooij, Iris A.L.M., Giles, Rachel H., Beales, Philip L., Roepman, Ronald, Arts, Heleen H., Bongers, Ernie M.H.F., Renkema, Kirsten Y., Knoers, Nine V.A.M., van Reeuwijk, Jeroen, Lilien, Marc R., Stokman, Marijn F., van der Zwaag, Bert, van de Kar, Nicole C.A.J., van Haelst, Mieke M., van Eerde, Albertien M., van der Heijden, Joost W., Kroes, Hester Y., Ippel, Elly, Schulp, Annelien J.A., van Gassen, Koen L., van Rooij, Iris A.L.M., Giles, Rachel H., Beales, Philip L., Roepman, Ronald, Arts, Heleen H., Bongers, Ernie M.H.F., Renkema, Kirsten Y., Knoers, Nine V.A.M., van Reeuwijk, Jeroen, and Lilien, Marc R.

Published
2018

6. Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy

Author

Child Health, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Regenerative Medicine and Stem Cells, Nefro Vasculaire Geneeskunde, CMM, Genetica Sectie Research, Genetica, Nefrologie, Stokman, Marijn F., van der Zwaag, Bert, van de Kar, Nicole C.A.J., van Haelst, Mieke M., van Eerde, Albertien M., van der Heijden, Joost W., Kroes, Hester Y., Ippel, Elly, Schulp, Annelien J.A., van Gassen, Koen L., van Rooij, Iris A.L.M., Giles, Rachel H., Beales, Philip L., Roepman, Ronald, Arts, Heleen H., Bongers, Ernie M.H.F., Renkema, Kirsten Y., Knoers, Nine V.A.M., van Reeuwijk, Jeroen, Lilien, Marc R., Child Health, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Regenerative Medicine and Stem Cells, Nefro Vasculaire Geneeskunde, CMM, Genetica Sectie Research, Genetica, Nefrologie, Stokman, Marijn F., van der Zwaag, Bert, van de Kar, Nicole C.A.J., van Haelst, Mieke M., van Eerde, Albertien M., van der Heijden, Joost W., Kroes, Hester Y., Ippel, Elly, Schulp, Annelien J.A., van Gassen, Koen L., van Rooij, Iris A.L.M., Giles, Rachel H., Beales, Philip L., Roepman, Ronald, Arts, Heleen H., Bongers, Ernie M.H.F., Renkema, Kirsten Y., Knoers, Nine V.A.M., van Reeuwijk, Jeroen, and Lilien, Marc R.

Published
2018

7. The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis

Author

Genetica Sectie Research, Child Health, Nefro Vasculaire Geneeskunde, Circulatory Health, Regenerative Medicine and Stem Cells, Nefrologie, Genetica, Renkema, Kirsten Y, Giles, Rachel H, Lilien, Marc R, Beales, Philip L, Roepman, Ronald, Oud, Machteld M, Arts, Heleen H, Knoers, Nine V A M, Genetica Sectie Research, Child Health, Nefro Vasculaire Geneeskunde, Circulatory Health, Regenerative Medicine and Stem Cells, Nefrologie, Genetica, Renkema, Kirsten Y, Giles, Rachel H, Lilien, Marc R, Beales, Philip L, Roepman, Ronald, Oud, Machteld M, Arts, Heleen H, and Knoers, Nine V A M

Published
2018

8. A mutation in IFT43 causes non-syndromic recessive retinal degeneration.

Author

Biswas, Pooja, Biswas, Pooja, Duncan, Jacque L, Ali, Muhammad, Matsui, Hiroko, Naeem, Muhammad Asif, Raghavendra, Pongali B, Frazer, Kelly A, Arts, Heleen H, Riazuddin, Sheikh, Akram, Javed, Hejtmancik, J Fielding, Riazuddin, S Amer, Ayyagari, Radha, Biswas, Pooja, Biswas, Pooja, Duncan, Jacque L, Ali, Muhammad, Matsui, Hiroko, Naeem, Muhammad Asif, Raghavendra, Pongali B, Frazer, Kelly A, Arts, Heleen H, Riazuddin, Sheikh, Akram, Javed, Hejtmancik, J Fielding, Riazuddin, S Amer, and Ayyagari, Radha

Abstract

The aim of this work is to identify the molecular cause of autosomal recessive early onset retinal degeneration in a consanguineous pedigree. Seventeen members of a four-generation Pakistani family were recruited and underwent a detailed ophthalmic examination. Exomes of four affected and two unaffected individuals were sequenced. Variants were filtered using exomeSuite to identify rare potentially pathogenic variants in genes expressed in the retina and/or brain and consistent with the pattern of inheritance. Effect of the variant observed in the gene Intraflagellar Transport Protein 43 (IFT43) was studied by heterologous expression in mIMCD3 and MDCK cells. Expression and sub-cellular localization of IFT43 in the retina and transiently transfected cells was examined by RT-PCR, western blot analysis, and immunohistochemistry. Affected members were diagnosed with early onset non-syndromic progressive retinal degeneration and the presence of bone spicules distributed throughout the retina at younger ages while the older affected members showed severe central choroidal atrophy. Whole-exome sequencing analysis identified a novel homozygous c.100 G > A change in IFT43 segregating with retinal degeneration and not present in ethnicity-matched controls. Immunostaining showed IFT43 localized in the photoreceptors, and to the tip of the cilia in transfected mIMCD3 and MDCK cells. The cilia in mIMCD3 and MDCK cells expressing mutant IFT43 were found to be significantly shorter (P < 0.001) than cells expressing wild-type IFT43. Our studies identified a novel homozygous mutation in the ciliary protein IFT43 as the underlying cause of recessive inherited retinal degeneration. This is the first report demonstrating the involvement of IFT43 in retinal degeneration.

Published
2017

9. De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia

Author

Stokman, Marijn F, Oud, Machteld M, van Binsbergen, Ellen, Slaats, Gisela G, Nicolaou, Nayia, Renkema, Kirsten Y, Nijman, Isaac J, Roepman, Ronald, Giles, Rachel H, Arts, Heleen H, Knoers, Nine V A M, van Haelst, Mieke M, Stokman, Marijn F, Oud, Machteld M, van Binsbergen, Ellen, Slaats, Gisela G, Nicolaou, Nayia, Renkema, Kirsten Y, Nijman, Isaac J, Roepman, Ronald, Giles, Rachel H, Arts, Heleen H, Knoers, Nine V A M, and van Haelst, Mieke M

Published
2016

10. De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia

Author

Stokman, Marijn F, Oud, Machteld M, van Binsbergen, Ellen, Slaats, Gisela G, Nicolaou, Nayia, Renkema, Kirsten Y, Nijman, Isaac J, Roepman, Ronald, Giles, Rachel H, Arts, Heleen H, Knoers, Nine V A M, van Haelst, Mieke M, Stokman, Marijn F, Oud, Machteld M, van Binsbergen, Ellen, Slaats, Gisela G, Nicolaou, Nayia, Renkema, Kirsten Y, Nijman, Isaac J, Roepman, Ronald, Giles, Rachel H, Arts, Heleen H, Knoers, Nine V A M, and van Haelst, Mieke M

Published
2016

11. De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia

Author

Stokman, Marijn F, Oud, Machteld M, van Binsbergen, Ellen, Slaats, Gisela G, Nicolaou, Nayia, Renkema, Kirsten Y, Nijman, Isaac J, Roepman, Ronald, Giles, Rachel H, Arts, Heleen H, Knoers, Nine V A M, van Haelst, Mieke M, Stokman, Marijn F, Oud, Machteld M, van Binsbergen, Ellen, Slaats, Gisela G, Nicolaou, Nayia, Renkema, Kirsten Y, Nijman, Isaac J, Roepman, Ronald, Giles, Rachel H, Arts, Heleen H, Knoers, Nine V A M, and van Haelst, Mieke M

Published
2016

12. De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia

Author

Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Child Health, Regenerative Medicine and Stem Cells, Nefro Vasculaire Geneeskunde, Genetica Groep Van Tintelen, Cancer, Genetica Medische Informatica, Circulatory Health, Genetica, Stokman, Marijn F, Oud, Machteld M, van Binsbergen, Ellen, Slaats, Gisela G, Nicolaou, Nayia, Renkema, Kirsten Y, Nijman, Isaac J, Roepman, Ronald, Giles, Rachel H, Arts, Heleen H, Knoers, Nine V A M, van Haelst, Mieke M, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Child Health, Regenerative Medicine and Stem Cells, Nefro Vasculaire Geneeskunde, Genetica Groep Van Tintelen, Cancer, Genetica Medische Informatica, Circulatory Health, Genetica, Stokman, Marijn F, Oud, Machteld M, van Binsbergen, Ellen, Slaats, Gisela G, Nicolaou, Nayia, Renkema, Kirsten Y, Nijman, Isaac J, Roepman, Ronald, Giles, Rachel H, Arts, Heleen H, Knoers, Nine V A M, and van Haelst, Mieke M

Published
2016

13. Non-invasive sources of cells with primary cilia from pediatric and adult patients

Author

Ajzenberg, Henry, Slaats, Gisela G, Stokman, Marijn F, Arts, Heleen H, Logister, Ive, Kroes, Hester Y, Renkema, Kirsten Y, van Haelst, Mieke M, Terhal, Paulien A, van Rooij, Iris A, Keijzer-Veen, Mandy G, Knoers, Nine V, Lilien, Marc R, Jewett, Michael A, Giles, Rachel H, Ajzenberg, Henry, Slaats, Gisela G, Stokman, Marijn F, Arts, Heleen H, Logister, Ive, Kroes, Hester Y, Renkema, Kirsten Y, van Haelst, Mieke M, Terhal, Paulien A, van Rooij, Iris A, Keijzer-Veen, Mandy G, Knoers, Nine V, Lilien, Marc R, Jewett, Michael A, and Giles, Rachel H

Published
2015

14. Non-invasive sources of cells with primary cilia from pediatric and adult patients

Author

Ajzenberg, Henry, Slaats, Gisela G, Stokman, Marijn F, Arts, Heleen H, Logister, Ive, Kroes, Hester Y, Renkema, Kirsten Y, van Haelst, Mieke M, Terhal, Paulien A, van Rooij, Iris A, Keijzer-Veen, Mandy G, Knoers, Nine V, Lilien, Marc R, Jewett, Michael A, Giles, Rachel H, Ajzenberg, Henry, Slaats, Gisela G, Stokman, Marijn F, Arts, Heleen H, Logister, Ive, Kroes, Hester Y, Renkema, Kirsten Y, van Haelst, Mieke M, Terhal, Paulien A, van Rooij, Iris A, Keijzer-Veen, Mandy G, Knoers, Nine V, Lilien, Marc R, Jewett, Michael A, and Giles, Rachel H

Published
2015

15. Non-invasive sources of cells with primary cilia from pediatric and adult patients

Author

Genetica, Regenerative Medicine and Stem Cells, Nefro Vasculaire Geneeskunde, Genetica Klinische Genetica, Child Health, Genetica Groep Van Tintelen, Nefrologie patientenzorg, Nefrologie, Ajzenberg, Henry, Slaats, Gisela G, Stokman, Marijn F, Arts, Heleen H, Logister, Ive, Kroes, Hester Y, Renkema, Kirsten Y, van Haelst, Mieke M, Terhal, Paulien A, van Rooij, Iris A, Keijzer-Veen, Mandy G, Knoers, Nine V, Lilien, Marc R, Jewett, Michael A, Giles, Rachel H, Genetica, Regenerative Medicine and Stem Cells, Nefro Vasculaire Geneeskunde, Genetica Klinische Genetica, Child Health, Genetica Groep Van Tintelen, Nefrologie patientenzorg, Nefrologie, Ajzenberg, Henry, Slaats, Gisela G, Stokman, Marijn F, Arts, Heleen H, Logister, Ive, Kroes, Hester Y, Renkema, Kirsten Y, van Haelst, Mieke M, Terhal, Paulien A, van Rooij, Iris A, Keijzer-Veen, Mandy G, Knoers, Nine V, Lilien, Marc R, Jewett, Michael A, and Giles, Rachel H

Published
2015

16. The ciliopathy protein CC2D2A Associates with NINL and functions in RAB8-MICAL3-regulated vesicle trafficking

Author

Bachmann-Gagescu, Ruxandra; https://orcid.org/0000-0002-3571-5271, Dona, Margo, Hetterschijt, Lisette, Tonnaer, Edith, Peters, Theo, de Vrieze, Erik, Mans, Dorus A, van Beersum, Sylvia E C, Phelps, Ian G, Arts, Heleen H, Keunen, Jan E, Ueffing, Marius, Roepman, Ronald, Boldt, Karsten, Doherty, Dan, Moens, Cecilia B, Neuhauss, Stephan C F; https://orcid.org/0000-0002-9615-480X, Kremer, Hannie, van Wijk, Erwin, Bachmann-Gagescu, Ruxandra; https://orcid.org/0000-0002-3571-5271, Dona, Margo, Hetterschijt, Lisette, Tonnaer, Edith, Peters, Theo, de Vrieze, Erik, Mans, Dorus A, van Beersum, Sylvia E C, Phelps, Ian G, Arts, Heleen H, Keunen, Jan E, Ueffing, Marius, Roepman, Ronald, Boldt, Karsten, Doherty, Dan, Moens, Cecilia B, Neuhauss, Stephan C F; https://orcid.org/0000-0002-9615-480X, Kremer, Hannie, and van Wijk, Erwin

Abstract

Ciliopathies are a group of human disorders caused by dysfunction of primary cilia, ubiquitous microtubule-based organelles involved in transduction of extra-cellular signals to the cell. This function requires the concentration of receptors and channels in the ciliary membrane, which is achieved by complex trafficking mechanisms, in part controlled by the small GTPase RAB8, and by sorting at the transition zone located at the entrance of the ciliary compartment. Mutations in the transition zone gene CC2D2A cause the related Joubert and Meckel syndromes, two typical ciliopathies characterized by central nervous system malformations, and result in loss of ciliary localization of multiple proteins in various models. The precise mechanisms by which CC2D2A and other transition zone proteins control protein entrance into the cilium and how they are linked to vesicular trafficking of incoming cargo remain largely unknown. In this work, we identify the centrosomal protein NINL as a physical interaction partner of CC2D2A. NINL partially co-localizes with CC2D2A at the base of cilia and ninl knockdown in zebrafish leads to photoreceptor outer segment loss, mislocalization of opsins and vesicle accumulation, similar to cc2d2a-/- phenotypes. Moreover, partial ninl knockdown in cc2d2a-/- embryos enhances the retinal phenotype of the mutants, indicating a genetic interaction in vivo, for which an illustration is found in patients from a Joubert Syndrome cohort. Similar to zebrafish cc2d2a mutants, ninl morphants display altered Rab8a localization. Further exploration of the NINL-associated interactome identifies MICAL3, a protein known to interact with Rab8 and to play an important role in vesicle docking and fusion. Together, these data support a model where CC2D2A associates with NINL to provide a docking point for cilia-directed cargo vesicles, suggesting a mechanism by which transition zone proteins can control the protein content of the ciliary compartment.

Published
2015

17. Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.

Author

Schmidts, Miriam, Schmidts, Miriam, Vodopiutz, Julia, Christou-Savina, Sonia, Cortés, Claudio R, McInerney-Leo, Aideen M, Emes, Richard D, Arts, Heleen H, Tüysüz, Beyhan, D'Silva, Jason, Leo, Paul J, Giles, Tom C, Oud, Machteld M, Harris, Jessica A, Koopmans, Marije, Marshall, Mhairi, Elçioglu, Nursel, Kuechler, Alma, Bockenhauer, Detlef, Moore, Anthony T, Wilson, Louise C, Janecke, Andreas R, Hurles, Matthew E, Emmet, Warren, Gardiner, Brooke, Streubel, Berthold, Dopita, Belinda, Zankl, Andreas, Kayserili, Hülya, Scambler, Peter J, Brown, Matthew A, Beales, Philip L, Wicking, Carol, UK10K, Duncan, Emma L, Mitchison, Hannah M, Schmidts, Miriam, Schmidts, Miriam, Vodopiutz, Julia, Christou-Savina, Sonia, Cortés, Claudio R, McInerney-Leo, Aideen M, Emes, Richard D, Arts, Heleen H, Tüysüz, Beyhan, D'Silva, Jason, Leo, Paul J, Giles, Tom C, Oud, Machteld M, Harris, Jessica A, Koopmans, Marije, Marshall, Mhairi, Elçioglu, Nursel, Kuechler, Alma, Bockenhauer, Detlef, Moore, Anthony T, Wilson, Louise C, Janecke, Andreas R, Hurles, Matthew E, Emmet, Warren, Gardiner, Brooke, Streubel, Berthold, Dopita, Belinda, Zankl, Andreas, Kayserili, Hülya, Scambler, Peter J, Brown, Matthew A, Beales, Philip L, Wicking, Carol, UK10K, Duncan, Emma L, and Mitchison, Hannah M

Abstract

Bidirectional (anterograde and retrograde) motor-based intraflagellar transport (IFT) governs cargo transport and delivery processes that are essential for primary cilia growth and maintenance and for hedgehog signaling functions. The IFT dynein-2 motor complex that regulates ciliary retrograde protein transport contains a heavy chain dynein ATPase/motor subunit, DYNC2H1, along with other less well functionally defined subunits. Deficiency of IFT proteins, including DYNC2H1, underlies a spectrum of skeletal ciliopathies. Here, by using exome sequencing and a targeted next-generation sequencing panel, we identified a total of 11 mutations in WDR34 in 9 families with the clinical diagnosis of Jeune syndrome (asphyxiating thoracic dystrophy). WDR34 encodes a WD40 repeat-containing protein orthologous to Chlamydomonas FAP133, a dynein intermediate chain associated with the retrograde intraflagellar transport motor. Three-dimensional protein modeling suggests that the identified mutations all affect residues critical for WDR34 protein-protein interactions. We find that WDR34 concentrates around the centrioles and basal bodies in mammalian cells, also showing axonemal staining. WDR34 coimmunoprecipitates with the dynein-1 light chain DYNLL1 in vitro, and mining of proteomics data suggests that WDR34 could represent a previously unrecognized link between the cytoplasmic dynein-1 and IFT dynein-2 motors. Together, these data show that WDR34 is critical for ciliary functions essential to normal development and survival, most probably as a previously unrecognized component of the mammalian dynein-IFT machinery.

Published
2013

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