Search

Your search keyword '"Oud, Machteld M"' showing total 128 results
Start Over Author "Oud, Machteld M"
128 results on '"Oud, Machteld M"'

1. Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing

Author

Morales-Romero, Blai, Muñoz-Pujol, Gerard, Artuch, Rafael, García-Cazorla, Angels, O'Callaghan, Mar, Sykut-Cegielska, Jolanta, Campistol, Jaume, Moreno-Lozano, Pedro Juan, Oud, Machteld M., Wevers, Ron A., Lefeber, Dirk J., Esteve-Codina, Anna, Yepez, Vicente A., Gagneur, Julien, Wortmann, Saskia B., Prokisch, Holger, Ribes, Antonia, García-Villoria, Judit, and Tort, Frederic

Published
2024
Full Text
View/download PDF

4. Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants

Author

Walczak-Sztulpa, Joanna, primary, Wawrocka, Anna, additional, Kuszel, Łukasz, additional, Pietras, Paulina, additional, Leśniczak-Staszak, Marta, additional, Andrusiewicz, Mirosław, additional, Krawczyński, Maciej R., additional, Latos-Bieleńska, Anna, additional, Pawlak, Marta, additional, Grenda, Ryszard, additional, Materna-Kiryluk, Anna, additional, Oud, Machteld M., additional, and Szaflarski, Witold, additional

Published
2023
Full Text
View/download PDF

5. Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy

Author

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

Subjects
Rare Diseases, Pediatric, Underpinning research, 1.1 Normal biological development and functioning, Generic health relevance, Animals, Asians, Axoneme, Carrier Proteins, Child, Chlamydomonas, Cilia, Cytoplasmic Dyneins, Cytoskeleton, Ellis-Van Creveld Syndrome, Exome, Exons, Humans, Infant, Infant, Newborn, Intracellular Signaling Peptides and Proteins, Mutation, Protein Conformation, Proteomics, Whites, UK10K, Asian People, White People, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
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

6. Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing)

Author

Ferreira, Elise A., primary, Buijs, Mark J. N., additional, Wijngaard, Robin, additional, Daams, Joost G., additional, Datema, Mareen R., additional, Engelen, Marc, additional, Karnebeek, Clara D. M. van, additional, Oud, Machteld M., additional, Vaz, Frédéric M., additional, Wamelink, Mirjam M. C., additional, Crabben, Saskia N. van der, additional, and Langeveld, Mirjam, additional

Published
2023
Full Text
View/download PDF

8. Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis

Author

Frost, F. Graeme, primary, Morimoto, Marie, additional, Sharma, Prashant, additional, Ruaud, Lyse, additional, Belnap, Newell, additional, Calame, Daniel G., additional, Uchiyama, Yuri, additional, Matsumoto, Naomichi, additional, Oud, Machteld M., additional, Ferreira, Elise A., additional, Narayanan, Vinodh, additional, Rangasamy, Sampath, additional, Huentelman, Matt, additional, Emrick, Lisa T., additional, Sato-Shirai, Ikuko, additional, Kumada, Satoko, additional, Wolf, Nicole I., additional, Steinbach, Peter J., additional, Huang, Yan, additional, Pusey, Barbara N., additional, Passemard, Sandrine, additional, Levy, Jonathan, additional, Drunat, Séverine, additional, Vincent, Marie, additional, Guet, Agnès, additional, Agolini, Emanuele, additional, Novelli, Antonio, additional, Digilio, Maria Cristina, additional, Rosenfeld, Jill A., additional, Murphy, Jennifer L., additional, Lupski, James R., additional, Vezina, Gilbert, additional, Macnamara, Ellen F., additional, Adams, David R., additional, Acosta, Maria T., additional, Tifft, Cynthia J., additional, Gahl, William A., additional, and Malicdan, May Christine V., additional

Published
2023
Full Text
View/download PDF

9. Utilization of automated cilia analysis to characterize novel INPP5Evariants in patients with non-syndromic retinitis pigmentosa

Author

Whiting, Kae R., Haer-Wigman, Lonneke, Florijn, Ralph J., van Beek, Ronald, Oud, Machteld M., Plomp, Astrid S., Boon, Camiel J. F., Kroes, Hester Y., and Roepman, Ronald

Abstract

INPP5Eencodes inositol polyphosphate-5-phosphatase E, an enzyme involved in regulating the phosphatidylinositol (PIP) makeup of the primary cilium membrane. Pathogenic variants in INPP5Ehence cause a variety of ciliopathies: genetic disorders caused by dysfunctional cilia. While the majority of these disorders are syndromic, such as the neuronal ciliopathy Joubert syndrome, in some cases patients will present with an isolated phenotype—most commonly non-syndromic retinitis pigmentosa (RP). Here, we report two novel variants in INPP5Eidentified in two patients with non-syndromic RP: patient 1 with compound heterozygous variants (c.1516C > T, p.(Q506*), and c.847G > A, p.(A283T)) and patient 2 with a homozygous variant (c.1073C > T, p.(P358L)). To determine whether these variants were causative for the phenotype in the patients, automated ciliary phenotyping of patient-derived dermal fibroblasts was performed for percent ciliation, cilium length, retrograde IFT trafficking, and INPP5E localization. In both patients, a decrease in ciliary length and loss of INPP5E localization in the primary cilia were seen. With these molecular findings, we can confirm functionally that the novel variants in INPP5Eare causative for the RP phenotypes seen in both patients. Additionally, this study demonstrates the usefulness of utilizing ciliary phenotyping as an assistant in ciliopathy diagnosis and phenotyping.

Published
2024
Full Text
View/download PDF

11. Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis

Author

Walczak-Sztulpa, Joanna, primary, Wawrocka, Anna, additional, Doornbos, Cenna, additional, van Beek, Ronald, additional, Sowińska-Seidler, Anna, additional, Jamsheer, Aleksander, additional, Bukowska-Olech, Ewelina, additional, Latos-Bieleńska, Anna, additional, Grenda, Ryszard, additional, Bongers, Ernie M. H. F., additional, Schmidts, Miriam, additional, Obersztyn, Ewa, additional, Krawczyński, Maciej R., additional, and Oud, Machteld M., additional

Published
2022
Full Text
View/download PDF

14. How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques

Author

Wortmann, Saskia B., primary, Oud, Machteld M., additional, Alders, Mariëlle, additional, Coene, Karlien L. M., additional, van der Crabben, Saskia N., additional, Feichtinger, René G., additional, Garanto, Alejandro, additional, Hoischen, Alex, additional, Langeveld, Mirjam, additional, Lefeber, Dirk, additional, Mayr, Johannes A., additional, Ockeloen, Charlotte W., additional, Prokisch, Holger, additional, Rodenburg, Richard, additional, Waterham, Hans R., additional, Wevers, Ron A., additional, van de Warrenburg, Bart P. C., additional, Willemsen, Michel A. A. P., additional, Wolf, Nicole I., additional, Vissers, Lisenka E. L. M., additional, and van Karnebeek, Clara D. M., additional

Published
2022
Full Text
View/download PDF

16. NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum

Author

den Hollander, Bibiche, primary, Rasing, Anne, additional, Post, Merel A., additional, Klein, Willemijn M., additional, Oud, Machteld M., additional, Brands, Marion M., additional, de Boer, Lonneke, additional, Engelke, Udo F. H., additional, van Essen, Peter, additional, Fuchs, Sabine A., additional, Haaxma, Charlotte A., additional, Jensson, Brynjar O., additional, Kluijtmans, Leo A. J., additional, Lengyel, Anna, additional, Lichtenbelt, Klaske D., additional, Østergaard, Elsebet, additional, Peters, Gera, additional, Salvarinova, Ramona, additional, Simon, Marleen E. H., additional, Stefansson, Kari, additional, Thorarensen, Ólafur, additional, Ulmen, Ulrike, additional, Coene, Karlien L. M., additional, Willemsen, Michèl A., additional, Lefeber, Dirk J., additional, and Karnebeek, Clara D. M. van, additional

Published
2021
Full Text
View/download PDF

17. NANS-CDG:Delineation of the Genetic, Biochemical, and Clinical Spectrum

Author

den Hollander, Bibiche, Rasing, Anne, Post, Merel A., Klein, Willemijn M., Oud, Machteld M., Brands, Marion M., de Boer, Lonneke, Engelke, Udo F.H., van Essen, Peter, Fuchs, Sabine A., Haaxma, Charlotte A., Jensson, Brynjar O., Kluijtmans, Leo A.J., Lengyel, Anna, Lichtenbelt, Klaske D., Østergaard, Elsebet, Peters, Gera, Salvarinova, Ramona, Simon, Marleen E.H., Stefansson, Kari, Thorarensen, Ólafur, Ulmen, Ulrike, Coene, Karlien L.M., Willemsen, Michèl A., Lefeber, Dirk J., Karnebeek, Clara D.M.van, den Hollander, Bibiche, Rasing, Anne, Post, Merel A., Klein, Willemijn M., Oud, Machteld M., Brands, Marion M., de Boer, Lonneke, Engelke, Udo F.H., van Essen, Peter, Fuchs, Sabine A., Haaxma, Charlotte A., Jensson, Brynjar O., Kluijtmans, Leo A.J., Lengyel, Anna, Lichtenbelt, Klaske D., Østergaard, Elsebet, Peters, Gera, Salvarinova, Ramona, Simon, Marleen E.H., Stefansson, Kari, Thorarensen, Ólafur, Ulmen, Ulrike, Coene, Karlien L.M., Willemsen, Michèl A., Lefeber, Dirk J., and Karnebeek, Clara D.M.van

Abstract

Background: NANS-CDG is a recently described congenital disorder of glycosylation caused by biallelic genetic variants in NANS, encoding an essential enzyme in de novo sialic acid synthesis. Sialic acid at the end of glycoconjugates plays a key role in biological processes such as brain and skeletal development. Here, we present an observational cohort study to delineate the genetic, biochemical, and clinical phenotype and assess possible correlations. Methods: Medical and laboratory records were reviewed with retrospective extraction and analysis of genetic, biochemical, and clinical data (2016–2020). Results: Nine NANS-CDG patients (nine families, six countries) referred to the Radboudumc CDG Center of Expertise were included. Phenotyping confirmed the hallmark features including intellectual developmental disorder (IDD) (n = 9/9; 100%), facial dysmorphisms (n = 9/9; 100%), neurologic impairment (n = 9/9; 100%), short stature (n = 8/9; 89%), skeletal dysplasia (n = 8/9; 89%), and short limbs (n = 8/9; 89%). Newly identified features include ophthalmological abnormalities (n = 6/9; 67%), an abnormal septum pellucidum (n = 6/9; 67%), (progressive) cerebral atrophy and ventricular dilatation (n = 5/9; 56%), gastrointestinal dysfunction (n = 5/9; 56%), thrombocytopenia (n = 5/9; 56%), and hypo–low-density lipoprotein cholesterol (n = 4/9; 44%). Biochemically, elevated urinary excretion of N-acetylmannosamine (ManNAc) is pathognomonic, the concentrations of which show a significant correlation with clinical severity. Genotypically, eight novel NANS variants were identified. Three severely affected patients harbored identical compound heterozygous pathogenic variants, one of whom was initiated on experimental prenatal and postnatal treatment with oral sialic acid. This patient showed markedly better psychomotor development than the other two genotypically identical males. Conclusions: ManNAc screening should be considered in all patients with IDD, short stature with

Published
2021

18. NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum

Author

Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells, Genetica Klinische Genetica, den Hollander, Bibiche, Rasing, Anne, Post, Merel A, Klein, Willemijn M, Oud, Machteld M, Brands, Marion M, de Boer, Lonneke, Engelke, Udo F H, van Essen, Peter, Fuchs, Sabine A, Haaxma, Charlotte A, Jensson, Brynjar O, Kluijtmans, Leo A J, Lengyel, Anna, Lichtenbelt, Klaske D, Østergaard, Elsebet, Peters, Gera, Salvarinova, Ramona, Simon, Marleen E H, Stefansson, Kari, Thorarensen, Ólafur, Ulmen, Ulrike, Coene, Karlien L M, Willemsen, Michèl A, Lefeber, Dirk J, van Karnebeek, Clara D M, Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells, Genetica Klinische Genetica, den Hollander, Bibiche, Rasing, Anne, Post, Merel A, Klein, Willemijn M, Oud, Machteld M, Brands, Marion M, de Boer, Lonneke, Engelke, Udo F H, van Essen, Peter, Fuchs, Sabine A, Haaxma, Charlotte A, Jensson, Brynjar O, Kluijtmans, Leo A J, Lengyel, Anna, Lichtenbelt, Klaske D, Østergaard, Elsebet, Peters, Gera, Salvarinova, Ramona, Simon, Marleen E H, Stefansson, Kari, Thorarensen, Ólafur, Ulmen, Ulrike, Coene, Karlien L M, Willemsen, Michèl A, Lefeber, Dirk J, and van Karnebeek, Clara D M

Published
2021

20. Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants inWDR35

Author

Walczak‐Sztulpa, Joanna, primary, Wawrocka, Anna, additional, Stańczyk, Małgorzata, additional, Pesz, Karolina, additional, Dudarewicz, Lech, additional, Chrul, Sławomir, additional, Bukowska‐Olech, Ewelina, additional, Wieczorek‐Cichecka, Nina, additional, Arts, Heleen H., additional, Oud, Machteld M., additional, Śmigiel, Robert, additional, Grenda, Ryszard, additional, Obersztyn, Ewa, additional, Chrzanowska, Krystyna H., additional, and Latos‐Bieleńska, Anna, additional

Published
2021
Full Text
View/download PDF

21. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Author

Schmidts, Miriam, Arts, Heleen H, Bongers, Ernie M H F, Yap, Zhimin, Oud, Machteld M, Antony, Dinu, Duijkers, Lonneke, Emes, Richard D, Stalker, Jim, Yntema, Jan-Bart L, Plagnol, Vincent, Hoischen, Alexander, Gilissen, Christian, Forsythe, Elisabeth, Lausch, Ekkehart, Veltman, Joris A, Roeleveld, Nel, Superti-Furga, Andrea, Kutkowska-Kazmierczak, Anna, Kamsteeg, Erik-Jan, Elçioğlu, Nursel, van Maarle, Merel C, Graul-Neumann, Luitgard M, Devriendt, Koenraad, Smithson, Sarah F, Wellesley, Diana, Verbeek, Nienke E, Hennekam, Raoul C M, Kayserili, Hulya, Scambler, Peter J, Beales, Philip L, Knoers, Nine VAM, Roepman, Ronald, and Mitchison, Hannah M

Published
2013
Full Text
View/download PDF

22. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

Author

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, and Roepman, Ronald

Published
2011
Full Text
View/download PDF

23. CiliaCarta: An integrated and validated compendium of ciliary genes

Author

van Dam, Teunis J. P., Kennedy, Julie, van der Lee, Robin, de Vrieze, Erik, Wunderlich, Kirsten A., Rix, Suzanne, Dougherty, Gerard W., Lambacher, Nils J., Li, Chunmei, Jensen, Victor L., Leroux, Michel R., Hjeij, Rim, Horn, Nicola, Texier, Yves, Wissinger, Yasmin, van Reeuwijk, Jeroen, Wheway, Gabrielle, Knapp, Barbara, Scheel, Jan F., Franco, Brunella, Mans, Dorus A., van Wijk, Erwin, Kepes, Francois, Slaats, Gisela G., Toedt, Grischa, Kremer, Hannie, Omran, Heymut, Szymanska, Katarzyna, Koutroumpas, Konstantinos, Ueffing, Marius, Nguyen, Thanh-Minh T., Letteboer, Stef J. F., Oud, Machteld M., van Beersum, Sylvia E. C., Schmidts, Miriam, Beales, Philip L., Lu, Qianhao, Giles, Rachel H., Szklarczyk, Radek, Russell, Robert B., Gibson, Toby J., Johnson, Colin A., Blacque, Oliver E., Wolfrum, Uwe, Boldt, Karsten, Roepman, Ronald, Hernandez-Hernandez, Victor, Huynen, Martijn A., van Dam, Teunis J. P., Kennedy, Julie, van der Lee, Robin, de Vrieze, Erik, Wunderlich, Kirsten A., Rix, Suzanne, Dougherty, Gerard W., Lambacher, Nils J., Li, Chunmei, Jensen, Victor L., Leroux, Michel R., Hjeij, Rim, Horn, Nicola, Texier, Yves, Wissinger, Yasmin, van Reeuwijk, Jeroen, Wheway, Gabrielle, Knapp, Barbara, Scheel, Jan F., Franco, Brunella, Mans, Dorus A., van Wijk, Erwin, Kepes, Francois, Slaats, Gisela G., Toedt, Grischa, Kremer, Hannie, Omran, Heymut, Szymanska, Katarzyna, Koutroumpas, Konstantinos, Ueffing, Marius, Nguyen, Thanh-Minh T., Letteboer, Stef J. F., Oud, Machteld M., van Beersum, Sylvia E. C., Schmidts, Miriam, Beales, Philip L., Lu, Qianhao, Giles, Rachel H., Szklarczyk, Radek, Russell, Robert B., Gibson, Toby J., Johnson, Colin A., Blacque, Oliver E., Wolfrum, Uwe, Boldt, Karsten, Roepman, Ronald, Hernandez-Hernandez, Victor, and Huynen, Martijn A.

Abstract

The cilium is an essential organelle at the surface of mammalian cells whose dysfunction causes a wide range of genetic diseases collectively called ciliopathies. The current rate at which new ciliopathy genes are identified suggests that many ciliary components remain undiscovered. We generated and rigorously analyzed genomic, proteomic, transcriptomic and evolutionary data and systematically integrated these using Bayesian statistics into a predictive score for ciliary function. This resulted in 285 candidate ciliary genes. We generated independent experimental evidence of ciliary associations for 24 out of 36 analyzed candidate proteins using multiple cell and animal model systems (mouse, zebrafish and nematode) and techniques. For example, we show that OSCP1, which has previously been implicated in two distinct non-ciliary processes, causes ciliogenic and ciliopathy-associated tissue phenotypes when depleted in zebrafish. The candidate list forms the basis of CiliaCarta, a comprehensive ciliary compendium covering 956 genes. The resource can be used to objectively prioritize candidate genes in whole exome or genome sequencing of ciliopathy patients and can be accessed at http://bioinformatics.bio.uu.nl/john/syscilia/ciliacarta/.

Published
2019

24. CiliaCarta: An integrated and validated compendium of ciliary genes

Author

Sub Bioinformatics, Theoretical Biology and Bioinformatics, van Dam, T.J.P., Kennedy, Julie E., van der Lee, Robin, De Vrieze, Erik, Wunderlich, Kirsten A., Rix, Suzanne, Dougherty, Gerard, Lambacher, Nils J., Li, Chunmei, Jensen, Victor L, Leroux, Michel R., Hjeij, Rim, Horn, Nicola, Texier, Yves, Wissinger, Yasmin, Van Reeuwijk, Jeroen, Wheway, Gabrielle, Knapp, Barbara, Scheel, Jan F., Franco, Brunella, Mans, Dorus A., Van Wijk, Erwin, Kepes, François, Slaats, Gisela G., Toedt, Grischa, Kremer, Hannie, Omran, Heymut, Szymanska, Katarzyna, Koutroumpas, Konstantinos, Ueffing, Marius, Nguyen, Thanh Minh T., Letteboer, Stef J.F., Oud, Machteld M., Van Beersum, Sylvia E.C., Schmidts, Miriam, Beales, Philip L, Lu, Qianhao, Giles, Rachel H., Szklarczyk, Radek, Russell, Robert B., Gibson, Toby J., Johnson, Colin A., Blacque, Oliver E., Wolfrum, Uwe, Boldt, Karsten, Roepman, Ronald, Hernandez-Hernandez, Victor, Huynen, Martijn H., Sub Bioinformatics, Theoretical Biology and Bioinformatics, van Dam, T.J.P., Kennedy, Julie E., van der Lee, Robin, De Vrieze, Erik, Wunderlich, Kirsten A., Rix, Suzanne, Dougherty, Gerard, Lambacher, Nils J., Li, Chunmei, Jensen, Victor L, Leroux, Michel R., Hjeij, Rim, Horn, Nicola, Texier, Yves, Wissinger, Yasmin, Van Reeuwijk, Jeroen, Wheway, Gabrielle, Knapp, Barbara, Scheel, Jan F., Franco, Brunella, Mans, Dorus A., Van Wijk, Erwin, Kepes, François, Slaats, Gisela G., Toedt, Grischa, Kremer, Hannie, Omran, Heymut, Szymanska, Katarzyna, Koutroumpas, Konstantinos, Ueffing, Marius, Nguyen, Thanh Minh T., Letteboer, Stef J.F., Oud, Machteld M., Van Beersum, Sylvia E.C., Schmidts, Miriam, Beales, Philip L, Lu, Qianhao, Giles, Rachel H., Szklarczyk, Radek, Russell, Robert B., Gibson, Toby J., Johnson, Colin A., Blacque, Oliver E., Wolfrum, Uwe, Boldt, Karsten, Roepman, Ronald, Hernandez-Hernandez, Victor, and Huynen, Martijn H.

Published
2019

25. CiliaCarta: An integrated and validated compendium of ciliary genes

Author

Regenerative Medicine and Stem Cells, Nefro Vasculaire Geneeskunde, Circulatory Health, van Dam, Teunis J P, Kennedy, Julie, van der Lee, Robin, de Vrieze, Erik, Wunderlich, Kirsten A, Rix, Suzanne, Dougherty, Gerard W, Lambacher, Nils J, Li, Chunmei, Jensen, Victor L, Leroux, Michel R, Hjeij, Rim, Horn, Nicola, Texier, Yves, Wissinger, Yasmin, van Reeuwijk, Jeroen, Wheway, Gabrielle, Knapp, Barbara, Scheel, Jan F, Franco, Brunella, Mans, Dorus A, van Wijk, Erwin, Képès, François, Slaats, Gisela G, Toedt, Grischa, Kremer, Hannie, Omran, Heymut, Szymanska, Katarzyna, Koutroumpas, Konstantinos, Ueffing, Marius, Nguyen, Thanh-Minh T, Letteboer, Stef J F, Oud, Machteld M, van Beersum, Sylvia E C, Schmidts, Miriam, Beales, Philip L, Lu, Qianhao, Giles, Rachel H, Szklarczyk, Radek, Russell, Robert B, Gibson, Toby J, Johnson, Colin A, Blacque, Oliver E, Wolfrum, Uwe, Boldt, Karsten, Roepman, Ronald, Hernandez-Hernandez, Victor, Huynen, Martijn A, Regenerative Medicine and Stem Cells, Nefro Vasculaire Geneeskunde, Circulatory Health, van Dam, Teunis J P, Kennedy, Julie, van der Lee, Robin, de Vrieze, Erik, Wunderlich, Kirsten A, Rix, Suzanne, Dougherty, Gerard W, Lambacher, Nils J, Li, Chunmei, Jensen, Victor L, Leroux, Michel R, Hjeij, Rim, Horn, Nicola, Texier, Yves, Wissinger, Yasmin, van Reeuwijk, Jeroen, Wheway, Gabrielle, Knapp, Barbara, Scheel, Jan F, Franco, Brunella, Mans, Dorus A, van Wijk, Erwin, Képès, François, Slaats, Gisela G, Toedt, Grischa, Kremer, Hannie, Omran, Heymut, Szymanska, Katarzyna, Koutroumpas, Konstantinos, Ueffing, Marius, Nguyen, Thanh-Minh T, Letteboer, Stef J F, Oud, Machteld M, van Beersum, Sylvia E C, Schmidts, Miriam, Beales, Philip L, Lu, Qianhao, Giles, Rachel H, Szklarczyk, Radek, Russell, Robert B, Gibson, Toby J, Johnson, Colin A, Blacque, Oliver E, Wolfrum, Uwe, Boldt, Karsten, Roepman, Ronald, Hernandez-Hernandez, Victor, and Huynen, Martijn A

Published
2019

26. CiliaCarta: An integrated and validated compendium of ciliary genes

Author

van Dam, Teunis J. P., primary, Kennedy, Julie, additional, van der Lee, Robin, additional, de Vrieze, Erik, additional, Wunderlich, Kirsten A., additional, Rix, Suzanne, additional, Dougherty, Gerard W., additional, Lambacher, Nils J., additional, Li, Chunmei, additional, Jensen, Victor L., additional, Leroux, Michel R., additional, Hjeij, Rim, additional, Horn, Nicola, additional, Texier, Yves, additional, Wissinger, Yasmin, additional, van Reeuwijk, Jeroen, additional, Wheway, Gabrielle, additional, Knapp, Barbara, additional, Scheel, Jan F., additional, Franco, Brunella, additional, Mans, Dorus A., additional, van Wijk, Erwin, additional, Képès, François, additional, Slaats, Gisela G., additional, Toedt, Grischa, additional, Kremer, Hannie, additional, Omran, Heymut, additional, Szymanska, Katarzyna, additional, Koutroumpas, Konstantinos, additional, Ueffing, Marius, additional, Nguyen, Thanh-Minh T., additional, Letteboer, Stef J. F., additional, Oud, Machteld M., additional, van Beersum, Sylvia E. C., additional, Schmidts, Miriam, additional, Beales, Philip L., additional, Lu, Qianhao, additional, Giles, Rachel H., additional, Szklarczyk, Radek, additional, Russell, Robert B., additional, Gibson, Toby J., additional, Johnson, Colin A., additional, Blacque, Oliver E., additional, Wolfrum, Uwe, additional, Boldt, Karsten, additional, Roepman, Ronald, additional, Hernandez-Hernandez, Victor, additional, and Huynen, Martijn A., additional

Published
2019
Full Text
View/download PDF

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

Author

Boldt, Karsten, van Reeuwijk, Jeroen, Dougherty, Gerard, Lamers, Ideke J C, Coene, Karlien L M, Arts, Heleen H, Betts, Matthew J, Beyer, Tina, Bolat, Emine, Gloeckner, Christian Johannes, Haidari, Khatera, Hetterschijt, Lisette, Lu, Qianhao, Iaconis, Daniela, Jenkins, Dagan, Klose, Franziska, Knapp, Barbara, Latour, Brooke, Letteboer, Stef J F, Marcelis, Carlo L, Mitic, Dragana, Morleo, Manuela, Oud, Machteld M, Koutroumpas, Konstantinos, Riemersma, Moniek, Rix, Susan, Terhal, Paulien A, Toedt, Grischa, van Dam, Teunis J P, de Vrieze, Erik, Wissinger, Yasmin, Wu, Ka Man, Apic, Gordana, Beales, Philip L, Nguyen, Thanh-Minh T, Blacque, Oliver E, Gibson, Toby J, Huynen, Martijn A, Katsanis, Nicholas, Kremer, Hannie, Omran, Heymut, van Wijk, Erwin, Wolfrum, Uwe, Kepes, François, Davis, Erica E, Texier, Yves, Franco, Brunella, Giles, Rachel H, Ueffing, Marius, Russell, Robert B, Roepman, Ronald, Group, UK10K Rare Diseases, Al-Turki, Saeed, Anderson, Carl, Antony, Dinu, Barroso, Inês, van Beersum, Sylvia E C, Bentham, Jamie, Bhattacharya, Shoumo, Carss, Keren, Chatterjee, Krishna, Cirak, Sebahattin, Cosgrove, Catherine, Danecek, Petr, Durbin, Richard, Fitzpatrick, David, Floyd, Jamie, Horn, Nicola, Reghan Foley, A., Franklin, Chris, Futema, Marta, Humphries, Steve E, Hurles, Matt, Joyce, Chris, McCarthy, Shane, Mitchison, Hannah M, Muddyman, Dawn, Muntoni, Francesco, Willer, Jason R, O'Rahilly, Stephen, Onoufriadis, Alexandros, Payne, Felicity, Plagnol, Vincent, Raymond, Lucy, Savage, David B, Scambler, Peter, Schmidts, Miriam, Schoenmakers, Nadia, Semple, Robert, Mans, Dorus A, Serra, Eva, Stalker, Jim, van Kogelenberg, Margriet, Vijayarangakannan, Parthiban, Walter, Klaudia, Whittall, Ros, Williamson, Kathy, Boldt, K, van Reeuwijk, J, Lu, Q, Koutroumpas, K, Nguyen, Tmt, Texier, Y, van Beersum, Sec, Horn, N, Willer, Jr, Mans, Da, Dougherty, G, Lamers, Ijc, Coene, Klm, Arts, Hh, Betts, Mj, Beyer, T, Bolat, E, Gloeckner, Cj, Haidari, K, Hetterschijt, L, Iaconis, D, Jenkins, D, Klose, F, Knapp, B, Latour, B, Letteboer, Sjf, Marcelis, Cl, Mitic, D, Morleo, M, Oud, Mm, Riemersma, M, Rix, S, Terhal, Pa, Toedt, G, van Dam, Tjp, de Vrieze, E, Wissinger, Y, Wu, Km, Apic, G, Beales, Pl, Blacque, Oe, Gibson, Tj, Huynen, Ma, Katsanis, N, Kremer, H, Omran, H, van Wijk, E, Wolfrum, U, Kepes, F, Davis, Ee, Franco, B, Giles, Rh, Ueffing, M, Russell, Rb, Roepman, R, Boldt, Karsten, Van Reeuwijk, Jeroen, Lu, Qianhao, Koutroumpas, Konstantino, Nguyen, Thanh Minh T., Texier, Yve, Van Beersum, Sylvia E. C., Horn, Nicola, Willer, Jason R., Mans, Dorus A., Dougherty, Gerard, Lamers, Ideke J. C., Coene, Karlien L. M., Arts, Heleen H., Betts, Matthew J., Beyer, Tina, Bolat, Emine, Gloeckner, Christian Johanne, Haidari, Khatera, Hetterschijt, Lisette, Iaconis, Daniela, Jenkins, Dagan, Klose, Franziska, Knapp, Barbara, Latour, Brooke, Letteboer, Stef J. F., Marcelis, Carlo L., Mitic, Dragana, Morleo, Manuela, Oud, Machteld M., Riemersma, Moniek, Rix, Susan, Terhal, Paulien A., Toedt, Grischa, Van Dam, Teunis J. P., De Vrieze, Erik, Wissinger, Yasmin, Wu, Ka Man, Al Turki, Saeed, Anderson, Carl, Antony, Dinu, Barroso, Inê, Bentham, Jamie, Bhattacharya, Shoumo, Carss, Keren, Chatterjee, Krishna, Cirak, Sebahattin, Cosgrove, Catherine, Danecek, Petr, Durbin, Richard, Fitzpatrick, David, Floyd, Jamie, Foley, A. Reghan, Franklin, Chri, Futema, Marta, Humphries, Steve E., Hurles, Matt, Joyce, Chri, Mccarthy, Shane, Mitchison, Hannah M., Muddyman, Dawn, Muntoni, Francesco, O'Rahilly, Stephen, Onoufriadis, Alexandro, Payne, Felicity, Plagnol, Vincent, Raymond, Lucy, Savage, David B., Scambler, Peter, Schmidts, Miriam, Schoenmakers, Nadia, Semple, Robert, Serra, Eva, Stalker, Jim, Van Kogelenberg, Margriet, Vijayarangakannan, Parthiban, Walter, Klaudia, Whittall, Ro, Williamson, Kathy, Apic, Gordana, Beales, Philip L., Blacque, Oliver E., Gibson, Toby J., Huynen, Martijn A., Katsanis, Nichola, Kremer, Hannie, Omran, Heymut, Van Wijk, Erwin, Wolfrum, Uwe, Kepes, Françoi, Davis, Erica E., Franco, Brunella, Giles, Rachel H., Ueffing, Mariu, Russell, Robert B., and Roepman, Ronald

Subjects
Proteomics, 0301 basic medicine, Systems Analysis, DNA Mutational Analysis, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], General Physics and Astronomy, Datasets as Topic, methods [Chromatography, Affinity], Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Chromatography, Affinity, Mass Spectrometry, Protein Interaction Mapping, therapy [Ciliopathies], genetics [Ciliopathies], methods [Molecular Targeted Therapy], Molecular Targeted Therapy, Protein Interaction Maps, Multidisciplinary, Cilium, Chemistry (all), abnormalities [Spine], pathology [Ciliopathies], genetics [Muscle Hypotonia], therapy [Muscle Hypotonia], Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], metabolism [Proteins], isolation & purification [Proteins], physiology [Biological Transport], 3. Good health, Cell biology, Vesicular transport protein, pathology [Dwarfism], metabolism [Cilia], Muscle Hypotonia, ddc:500, pathology [Muscle Hypotonia], pathology [Spine], genetics [Dwarfism], Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Science, Dwarfism, Exocyst, Biology, Article, General Biochemistry, Genetics and Molecular Biology, Physics and Astronomy (all), 03 medical and health sciences, Intraflagellar transport, Ciliogenesis, Organelle, Humans, Cilia, Biochemistry, Genetics and Molecular Biology (all), Proteins, Biological Transport, General Chemistry, therapy [Dwarfism], Fibroblasts, genetics [Proteins], Ciliopathies, Spine, methods [Protein Interaction Mapping], Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030104 developmental biology, Proteostasis, HEK293 Cells, methods [Proteomics]
Abstract

Cellular organelles provide opportunities to relate biological mechanisms to disease. Here we use affinity proteomics, genetics and cell biology to interrogate cilia: poorly understood organelles, where defects cause genetic diseases. Two hundred and seventeen tagged human ciliary proteins create a final landscape of 1,319 proteins, 4,905 interactions and 52 complexes. Reverse tagging, repetition of purifications and statistical analyses, produce a high-resolution network that reveals organelle-specific interactions and complexes not apparent in larger studies, and links vesicle transport, the cytoskeleton, signalling and ubiquitination to ciliary signalling and proteostasis. We observe sub-complexes in exocyst and intraflagellar transport complexes, which we validate biochemically, and by probing structurally predicted, disruptive, genetic variants from ciliary disease patients. The landscape suggests other genetic diseases could be ciliary including 3M syndrome. We show that 3M genes are involved in ciliogenesis, and that patient fibroblasts lack cilia. Overall, this organelle-specific targeting strategy shows considerable promise for Systems Medicine., Mutations in proteins that localize to primary cilia cause devastating diseases, yet the primary cilium is a poorly understood organelle. Here the authors use interaction proteomics to identify a network of human ciliary proteins that provides new insights into several biological processes and diseases.

Published
2016

29. 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

31. Missense mutations in the WD40 domain ofAHI1cause non-syndromic retinitis pigmentosa

Author

Nguyen, Thanh-Minh T, primary, Hull, Sarah, additional, Roepman, Ronald, additional, van den Born, L Ingeborgh, additional, Oud, Machteld M, additional, de Vrieze, Erik, additional, Hetterschijt, Lisette, additional, Letteboer, Stef J F, additional, van Beersum, Sylvia E C, additional, Blokland, Ellen A, additional, Yntema, Helger G, additional, Cremers, Frans P M, additional, van der Zwaag, Paul A, additional, Arno, Gavin, additional, van Wijk, Erwin, additional, Webster, Andrew R, additional, and Haer-Wigman, Lonneke, additional

Published
2017
Full Text
View/download PDF

32. CiliaCarta: an integrated and validated compendium of ciliary genes

Author

van Dam, Teunis J. P., primary, Kennedy, Julie, additional, Lee, Robin van der, additional, Vrieze, Erik de, additional, Wunderlich, Kirsten A., additional, Rix, Suzanne, additional, Dougherty, Gerard W., additional, Lambacher, Nils J., additional, Li, Chunmei, additional, Jensen, Victor L., additional, Leroux, Michel R., additional, Hjeij, Rim, additional, Horn, Nicola, additional, Texier, Yves, additional, Wissinger, Yasmin, additional, van Reeuwijk, Jeroen, additional, Wheway, Gabrielle, additional, Knapp, Barbara, additional, Scheel, Jan F., additional, Franco, Brunella, additional, Mans, Dorus A., additional, van Wijk, Erwin, additional, Képès, François, additional, Slaats, Gisela G., additional, Toedt, Grischa, additional, Kremer, Hannie, additional, Omran, Heymut, additional, Szymanska, Katarzyna, additional, Koutroumpas, Konstantinos, additional, Ueffing, Marius, additional, Nguyen, Thanh-Minh T., additional, Letteboer, Stef J.F., additional, Oud, Machteld M., additional, van Beersum, Sylvia E. C., additional, Schmidts, Miriam, additional, Beales, Philip L., additional, Lu, Qianhao, additional, Giles, Rachel H., additional, Szklarczyk, Radek, additional, Russell, Robert B., additional, Gibson, Toby J., additional, Johnson, Colin A., additional, Blacque, Oliver E., additional, Wolfrum, Uwe, additional, Boldt, Karsten, additional, Roepman, Ronald, additional, Hernandez-Hernandez, Victor, additional, and Huynen, Martijn A., additional

Published
2017
Full Text
View/download PDF

33. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

Author

Oud, Machteld M., primary, Tuijnenburg, Paul, additional, Hempel, Maja, additional, van Vlies, Naomi, additional, Ren, Zemin, additional, Ferdinandusse, Sacha, additional, Jansen, Machiel H., additional, Santer, René, additional, Johannsen, Jessika, additional, Bacchelli, Chiara, additional, Alders, Marielle, additional, Li, Rui, additional, Davies, Rosalind, additional, Dupuis, Lucie, additional, Cale, Catherine M., additional, Wanders, Ronald J.A., additional, Pals, Steven T., additional, Ocaka, Louise, additional, James, Chela, additional, Müller, Ingo, additional, Lehmberg, Kai, additional, Strom, Tim, additional, Engels, Hartmut, additional, Williams, Hywel J., additional, Beales, Phil, additional, Roepman, Ronald, additional, Dias, Patricia, additional, Brunner, Han G., additional, Cobben, Jan-Maarten, additional, Hall, Christine, additional, Hartley, Taila, additional, Le Quesne Stabej, Polona, additional, Mendoza-Londono, Roberto, additional, Davies, E. Graham, additional, de Sousa, Sérgio B., additional, Lessel, Davor, additional, Arts, Heleen H., additional, and Kuijpers, Taco W., additional

Published
2017
Full Text
View/download PDF

34. 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

35. 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

36. A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

Author

Oud, Machteld M., primary, Bonnard, Carine, additional, Mans, Dorus A., additional, Altunoglu, Umut, additional, Tohari, Sumanty, additional, Ng, Alvin Yu Jin, additional, Eskin, Ascia, additional, Lee, Hane, additional, Rupar, C. Anthony, additional, de Wagenaar, Nathalie P., additional, Wu, Ka Man, additional, Lahiry, Piya, additional, Pazour, Gregory J., additional, Nelson, Stanley F., additional, Hegele, Robert A., additional, Roepman, Ronald, additional, Kayserili, Hülya, additional, Venkatesh, Byrappa, additional, Siu, Victoria M., additional, Reversade, Bruno, additional, and Arts, Heleen H., additional

Published
2016
Full Text
View/download PDF

37. De novo 14q24.2q24.3 microdeletion includingIFT43is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia

Author

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

Published
2016
Full Text
View/download PDF

38. Early presentation of cystic kidneys in a family with a homozygous INVS mutation

Author

Oud, Machteld M., primary, van Bon, Bregje W., additional, Bongers, Ernie M. H. F., additional, Hoischen, Alexander, additional, Marcelis, Carlo L., additional, de Leeuw, Nicole, additional, Mol, Suzanne J. J., additional, Mortier, Geert, additional, Knoers, Nine V. A. M., additional, Brunner, Han G., additional, Roepman, Ronald, additional, and Arts, Heleen H., additional

Published
2014
Full Text
View/download PDF

39. Exome sequencing identifiesDYNC2H1mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Author

Schmidts, Miriam, primary, Arts, Heleen H, additional, Bongers, Ernie M H F, additional, Yap, Zhimin, additional, Oud, Machteld M, additional, Antony, Dinu, additional, Duijkers, Lonneke, additional, Emes, Richard D, additional, Stalker, Jim, additional, Yntema, Jan-Bart L, additional, Plagnol, Vincent, additional, Hoischen, Alexander, additional, Gilissen, Christian, additional, Forsythe, Elisabeth, additional, Lausch, Ekkehart, additional, Veltman, Joris A, additional, Roeleveld, Nel, additional, Superti-Furga, Andrea, additional, Kutkowska-Kazmierczak, Anna, additional, Kamsteeg, Erik-Jan, additional, Elçioğlu, Nursel, additional, van Maarle, Merel C, additional, Graul-Neumann, Luitgard M, additional, Devriendt, Koenraad, additional, Smithson, Sarah F, additional, Wellesley, Diana, additional, Verbeek, Nienke E, additional, Hennekam, Raoul C M, additional, Kayserili, Hulya, additional, Scambler, Peter J, additional, Beales, Philip L, additional, Knoers, Nine VAM, additional, Roepman, Ronald, additional, and Mitchison, Hannah M, additional

Published
2013
Full Text
View/download PDF

40. Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Author

Chaki, Moumita, primary, Airik, Rannar, additional, Ghosh, Amiya K., additional, Giles, Rachel H., additional, Chen, Rui, additional, Slaats, Gisela G., additional, Wang, Hui, additional, Hurd, Toby W., additional, Zhou, Weibin, additional, Cluckey, Andrew, additional, Gee, Heon Yung, additional, Ramaswami, Gokul, additional, Hong, Chen-Jei, additional, Hamilton, Bruce A., additional, Červenka, Igor, additional, Ganji, Ranjani Sri, additional, Bryja, Vitezslav, additional, Arts, Heleen H., additional, van Reeuwijk, Jeroen, additional, Oud, Machteld M., additional, Letteboer, Stef J.F., additional, Roepman, Ronald, additional, Husson, Hervé, additional, Ibraghimov-Beskrovnaya, Oxana, additional, Yasunaga, Takayuki, additional, Walz, Gerd, additional, Eley, Lorraine, additional, Sayer, John A., additional, Schermer, Bernhard, additional, Liebau, Max C., additional, Benzing, Thomas, additional, Le Corre, Stephanie, additional, Drummond, Iain, additional, Janssen, Sabine, additional, Allen, Susan J., additional, Natarajan, Sivakumar, additional, O’Toole, John F., additional, Attanasio, Massimo, additional, Saunier, Sophie, additional, Antignac, Corinne, additional, Koenekoop, Robert K., additional, Ren, Huanan, additional, Lopez, Irma, additional, Nayir, Ahmet, additional, Stoetzel, Corinne, additional, Dollfus, Helene, additional, Massoudi, Rustin, additional, Gleeson, Joseph G., additional, Andreoli, Sharon P., additional, Doherty, Dan G., additional, Lindstrad, Anna, additional, Golzio, Christelle, additional, Katsanis, Nicholas, additional, Pape, Lars, additional, Abboud, Emad B., additional, Al-Rajhi, Ali A., additional, Lewis, Richard A., additional, Omran, Heymut, additional, Lee, Eva Y.-H.P., additional, Wang, Shaohui, additional, Sekiguchi, JoAnn M., additional, Saunders, Rudel, additional, Johnson, Colin A., additional, Garner, Elizabeth, additional, Vanselow, Katja, additional, Andersen, Jens S., additional, Shlomai, Joseph, additional, Nurnberg, Gudrun, additional, Nurnberg, Peter, additional, Levy, Shawn, additional, Smogorzewska, Agata, additional, Otto, Edgar A., additional, and Hildebrandt, Friedhelm, additional

Published
2012
Full Text
View/download PDF

41. Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

Author

Perrault, Isabelle, primary, Saunier, Sophie, additional, Hanein, Sylvain, additional, Filhol, Emilie, additional, Bizet, Albane A., additional, Collins, Felicity, additional, Salih, Mustafa A.M., additional, Gerber, Sylvie, additional, Delphin, Nathalie, additional, Bigot, Karine, additional, Orssaud, Christophe, additional, Silva, Eduardo, additional, Baudouin, Véronique, additional, Oud, Machteld M., additional, Shannon, Nora, additional, Le Merrer, Martine, additional, Roche, Olivier, additional, Pietrement, Christine, additional, Goumid, Jamal, additional, Baumann, Clarisse, additional, Bole-Feysot, Christine, additional, Nitschke, Patrick, additional, Zahrate, Mohammed, additional, Beales, Philip, additional, Arts, Heleen H., additional, Munnich, Arnold, additional, Kaplan, Josseline, additional, Antignac, Corinne, additional, Cormier-Daire, Valérie, additional, and Rozet, Jean-Michel, additional

Published
2012
Full Text
View/download PDF

43. Missense mutations in the WD40 domain of AHI1cause non-syndromic retinitis pigmentosa

Author

Nguyen, Thanh-Minh T, Hull, Sarah, Roepman, Ronald, van den Born, L Ingeborgh, Oud, Machteld M, de Vrieze, Erik, Hetterschijt, Lisette, Letteboer, Stef J F, van Beersum, Sylvia E C, Blokland, Ellen A, Yntema, Helger G, Cremers, Frans P M, van der Zwaag, Paul A, Arno, Gavin, van Wijk, Erwin, Webster, Andrew R, and Haer-Wigman, Lonneke

Abstract

BackgroundRecent findings suggesting that Abelson helper integration site 1(AHI1) is involved in non-syndromic retinal disease have been debated, as the functional significance of identified missense variants was uncertain. We assessed whether AHI1variants cause non-syndromic retinitis pigmentosa (RP).MethodsExome sequencing was performed in three probands with RP. The effects of the identified missense variants in AHI1were predicted by three-dimensional structure homology modelling. Ciliary parameters were evaluated in patient’s fibroblasts, and recombinant mutant proteins were expressed in ciliated retinal pigmented epithelium cells.ResultsIn the three patients with RP, three sets of compound heterozygous variants were detected in AHI1(c.2174G>A; p.Trp725* and c.2258A>T; p.Asp753Val, c.660delC; p.Ser221Glnfs*10 and c.2090C>T; p.Pro697Leu, c.2087A>G; p.His696Arg and c.2429C>T; p.Pro810Leu). All four missense variants were present in the conserved WD40 domain of Jouberin, the ciliary protein encoded by AHI1, with variable predicted implications for the domain structure. No significant changes in the percentage of ciliated cells, nor in cilium length or intraflagellar transport were detected. However, expression of mutant recombinant Jouberin in ciliated cells showed a significantly decreased enrichment at the ciliary base.ConclusionsThis report confirms that mutations in AHI1can underlie autosomal recessive RP. Moreover, it structurally and functionally validates the effect of the RP-associated AHI1variants on protein function, thus proposing a new genotype–phenotype correlation for AHI1mutation associated retinal ciliopathies.

Published
2017
Full Text
View/download PDF

44. Geometry sensing by dendritic cells dictates spatial organization and PGE2-induced dissolution of podosomes

Author

van den Dries, Koen, primary, van Helden, Suzanne F. G., additional, Riet, Joost te, additional, Diez-Ahedo, Ruth, additional, Manzo, Carlo, additional, Oud, Machteld M., additional, van Leeuwen, Frank N., additional, Brock, Roland, additional, Garcia-Parajo, Maria F., additional, Cambi, Alessandra, additional, and Figdor, Carl G., additional

Published
2011
Full Text
View/download PDF

45. Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

Author

Bredrup, Cecilie, primary, Saunier, Sophie, additional, Oud, Machteld M., additional, Fiskerstrand, Torunn, additional, Hoischen, Alexander, additional, Brackman, Damien, additional, Leh, Sabine M., additional, Midtbø, Marit, additional, Filhol, Emilie, additional, Bole-Feysot, Christine, additional, Nitschké, Patrick, additional, Gilissen, Christian, additional, Haugen, Olav H., additional, Sanders, Jan-Stephan F., additional, Stolte-Dijkstra, Irene, additional, Mans, Dorus A., additional, Steenbergen, Eric J., additional, Hamel, Ben C.J., additional, Matignon, Marie, additional, Pfundt, Rolph, additional, Jeanpierre, Cécile, additional, Boman, Helge, additional, Rødahl, Eyvind, additional, Veltman, Joris A., additional, Knappskog, Per M., additional, Knoers, Nine V.A.M., additional, Roepman, Ronald, additional, and Arts, Heleen H., additional

Published
2011
Full Text
View/download PDF

49. Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy

Author

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, Duncan, Emma L., and Mitchison, Hannah M.

Subjects
Cytoplasmic Dyneins, Proteomics, Axoneme, Ellis-Van Creveld Syndrome, Protein Conformation, Chlamydomonas, Infant, Newborn, Intracellular Signaling Peptides and Proteins, Medizin, Infant, Exons, White People, Asian People, Report, Mutation, Genetics, Animals, Humans, Exome, Genetics(clinical), Cilia, sense organs, Carrier Proteins, Child, Cytoskeleton
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. © 2013 by The American Society of Human Genetics. All rights reserved.

Full Text
View/download PDF

50. Cellular ciliary phenotyping indicates pathogenicity of novel variants in <italic>IFT140</italic> and confirms a Mainzer–Saldino syndrome diagnosis.

Author

Oud, Machteld M., Latour, Brooke L., Bakey, Zeineb, Letteboer, Stef J., Lugtenberg, Dorien, Wu, Ka Man, Cornelissen, Elisabeth A. M., Yntema, Helger G., Schmidts, Miriam, Roepman, Ronald, and Bongers, Ernie M. H. F.

Subjects
SKELETAL abnormality diagnosis, CILIOPATHY, PHENOTYPES, EXOMES, MICROBIAL virulence
Abstract

Background: Mainzer–Saldino syndrome (MZSDS) is a skeletal ciliopathy and part of the short-rib thoracic dysplasia (SRTD) group of ciliary disorders. The main characteristics of MZSDS are short limbs, mild narrow thorax, blindness, and renal failure. Thus far, variants in two genes are associated with MZSDS: IFT140, and IFT172. In this study, we describe a 1-year-old girl presenting with mild skeletal abnormalities, Leber congenital amaurosis, and bilateral hearing difficulties. For establishing an accurate diagnosis, we combined clinical, molecular, and functional analyses. Methods: We performed diagnostic whole-exome sequencing (WES) analysis to determine the genetic cause of the disease and analyzed two gene panels, containing all currently known genes in vision disorders, and in hearing impairment. Upon detection of the likely causative variants, ciliary phenotyping was performed in patient urine-derived renal epithelial cells (URECs) and rescue experiments were performed in CRISPR/Cas9-derived Ift140 knock out cells to determine the pathogenicity of the detected variants in vitro. Cilium morphology, cilium length, and intraflagellar transport (IFT) were evaluated by immunocytochemistry. Results: Diagnostic WES revealed two novel compound heterozygous variants in IFT140, encoding IFT140. Thorough investigation of WES data did not reveal any variants in candidate genes associated with hearing impairment. Patient-derived URECs revealed an accumulation of IFT-B protein IFT88 at the ciliary tip in 41% of the cells indicative of impaired retrograde IFT, while this was absent in cilia from control URECs. Furthermore, transfection of CRISPR/Cas9-derived Ift140 knock out cells with an IFT140 construct containing the patient mutation p.Tyr923Asp resulted in a significantly higher percentage of IFT88 tip accumulation than transfection with the wild-type IFT140 construct. Conclusions: By combining the clinical, genetic, and functional data from this study, we could conclude that the patient has SRTD9, also called Mainzer–Saldino syndrome, caused by variants in IFT140. We suggest the possibility that variants in IFT140 may underlie hearing impairment. Moreover, we show that urine provides an excellent source to obtain patient-derived cells in a non-invasive manner to study the pathogenicity of variants detected by genetic testing. [ABSTRACT FROM AUTHOR]

Published
2018
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results