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  1. AU="Konstantinos Koutroumpas"
  2. AU="Kumar Thulasi"
  3. AU="Elbe, Peter"
  4. AU=Ryffel Gerhart U
  5. AU="López Panadés, Maria"
  6. AU="Tormo, Hélène"
  7. AU="Gardham, Alice"
  8. AU="Chisa Inoue"
  9. AU=Savcenko Michal AU=Savcenko Michal
  10. AU=Dinda Biswanath AU=Dinda Biswanath
  11. AU="Heikinheimo Annamari"
  12. AU="Currie, Geoffrey"
  13. AU="Konno, Adriana Y C"
  14. AU="Nashmi, Raad"
  15. AU="Doligkeit, Daniel"
  16. AU="Caparello, Basilio"
  17. AU="Fricke, T T"
  18. AU="Mummery, C J"
  19. AU="Krantz, Emily"
  20. AU="Bedoya-Arias, Juan E"
  21. AU="Zhou, Heyang"
  22. AU=Latson Larry A
  23. AU=Alhuzimi Eman
  24. AU="Wuerzberger-Davis, Shelly M"
  25. AU="Clippinger, Amy J"
  26. AU="M. S. Islam"
  27. AU="Borrego-Jiménez, Jaime"
  28. AU="Kaoru Dohi"
  29. AU="Tornai, Gábor J"
  30. AU="D'Avella, Christopher"
  31. AU="Lim, Boon L."
  32. AU="Heselden, Marie"
  33. AU=Dias?Polak David
  34. AU="Shahid Umar"
  35. AU="Abu-Shmais, Alexandria A"
  36. AU="Takenaka, Haruka"
  37. AU="Bramley, Andrea"
  38. AU="Sang Hong Lee"

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  1. Artikel ; Online: CiliaCarta

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

    PLoS ONE, Vol 14, Iss 5, p e

    An integrated and validated compendium of ciliary genes.

    2019  Band 0216705

    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 ... ...

    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/.
    Schlagwörter Medicine ; R ; Science ; Q
    Thema/Rubrik (Code) 616
    Sprache Englisch
    Erscheinungsdatum 2019-01-01T00:00:00Z
    Verlag Public Library of Science (PLoS)
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  2. Artikel ; Online: An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

    Karsten Boldt / Jeroen van Reeuwijk / Qianhao Lu / Konstantinos Koutroumpas / Thanh-Minh T. Nguyen / Yves Texier / Sylvia E. C. van Beersum / Nicola Horn / Jason R. Willer / Dorus A. Mans / Gerard Dougherty / Ideke J. C. Lamers / Karlien L. M. Coene / Heleen H. Arts / Matthew J. Betts / Tina Beyer / Emine Bolat / Christian Johannes Gloeckner / Khatera Haidari /
    Lisette Hetterschijt / Daniela Iaconis / Dagan Jenkins / Franziska Klose / Barbara Knapp / Brooke Latour / Stef J. F. Letteboer / Carlo L. Marcelis / Dragana Mitic / Manuela Morleo / Machteld M. Oud / Moniek Riemersma / Susan Rix / Paulien A. Terhal / Grischa Toedt / Teunis J. P. van Dam / Erik de Vrieze / Yasmin Wissinger / Ka Man Wu / Gordana Apic / Philip L. Beales / Oliver E. Blacque / Toby J. Gibson / Martijn A. Huynen / Nicholas Katsanis / Hannie Kremer / Heymut Omran / Erwin van Wijk / Uwe Wolfrum / François Kepes / Erica E. Davis / Brunella Franco / Rachel H. Giles / Marius Ueffing / Robert B. Russell / Ronald Roepman / UK10K Rare Diseases Group

    Nature Communications, Vol 7, Iss 1, Pp 1-

    2016  Band 13

    Abstract: 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 ... ...

    Abstract 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.
    Schlagwörter Science ; Q
    Sprache Englisch
    Erscheinungsdatum 2016-05-01T00:00:00Z
    Verlag Nature Portfolio
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

    Volltext online

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    Kategorien

    Fernleihe an ZB MED

    Sie können sich den gewünschten Titel als lokale Nutzerin oder lokaler Nutzer von ZB MED direkt an den Standort Köln schicken lassen.

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