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  1. AU="Rim Hjeij"
  2. AU="Verweij, Marieke C"
  3. AU="Reinmuth, N"
  4. AU="Wee, S.L"
  5. AU="Redlich, B"
  6. AU="Brandt, Oliver"
  7. AU="Ma, Emily Z"
  8. AU="Paola Palestini"
  9. AU=Sahadev Ravindra
  10. AU="Lei, M"
  11. AU="Glasnov, Toma"
  12. AU=Lemieux Jacob E AU=Lemieux Jacob E
  13. AU="Duan, Wen-Yan"
  14. AU="Sybertz, Alexandra"
  15. AU="Jéssica T. Bandeira"
  16. AU="Dieleman, J.A."
  17. AU="Antonio J Giraldez"
  18. AU="Krutenkova A.P."
  19. AU="Hotaling, Jim"
  20. AU="Saywell, Alex"
  21. AU="Ahmad, Nadia N"
  22. AU=Gonzalez-Periz Ana
  23. AU="Gardner, Colin J"
  24. AU="James, Timothy Y"
  25. AU="Giorgadze, Tamar A"
  26. AU="Laudicina, Vito Armando"
  27. AU="M.Cho, "
  28. AU="Balkan, Ayhan"
  29. AU="Akiyoshi Nakakura"
  30. AU="Yusuf, Amman"
  31. AU="Shastri, Jayanthi S."
  32. AU=McMaster Mary L
  33. AU="Ren, Xiaojie"
  34. AU="Grubbs, Griffin L"
  35. AU="Shen, Jianping"
  36. AU="Thuss-Patience, Peter"
  37. AU="Feng, Qingguo"
  38. AU="Mikayla Schowalter"
  39. AU=Milman Evgenia

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  1. Artikel ; Online: CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module

    Gerard W. Dougherty / Katsutoshi Mizuno / Tabea Nöthe-Menchen / Yayoi Ikawa / Karsten Boldt / Asaf Ta-Shma / Isabella Aprea / Katsura Minegishi / Yuan-Ping Pang / Petra Pennekamp / Niki T. Loges / Johanna Raidt / Rim Hjeij / Julia Wallmeier / Huda Mussaffi / Zeev Perles / Orly Elpeleg / Franziska Rabert / Hidetaka Shiratori /
    Stef J. Letteboer / Nicola Horn / Samuel Young / Timo Strünker / Friederike Stumme / Claudius Werner / Heike Olbrich / Katsuyoshi Takaoka / Takahiro Ide / Wang Kyaw Twan / Luisa Biebach / Jörg Große-Onnebrink / Judith A. Klinkenbusch / Kavita Praveen / Diana C. Bracht / Inga M. Höben / Katrin Junger / Jana Gützlaff / Sandra Cindrić / Micha Aviram / Thomas Kaiser / Yasin Memari / Petras P. Dzeja / Bernd Dworniczak / Marius Ueffing / Ronald Roepman / Kerstin Bartscherer / Nicholas Katsanis / Erica E. Davis / Israel Amirav / Hiroshi Hamada / Heymut Omran

    Nature Communications, Vol 11, Iss 1, Pp 1-

    2020  Band 20

    Abstract: The mechanism by which adenosine monophosphate modulates dynein ATPase-mediated ciliary and flagellar beating remains obscure. Here the authors identify an axonemal module including cilia and flagella associated protein 45 that supports adenine ... ...

    Abstract The mechanism by which adenosine monophosphate modulates dynein ATPase-mediated ciliary and flagellar beating remains obscure. Here the authors identify an axonemal module including cilia and flagella associated protein 45 that supports adenine nucleotide homeostasis and underlies a human ciliopathy
    Schlagwörter Science ; Q
    Sprache Englisch
    Erscheinungsdatum 2020-11-01T00:00:00Z
    Verlag Nature Publishing Group
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  2. Artikel ; Online: CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module

    Gerard W. Dougherty / Katsutoshi Mizuno / Tabea Nöthe-Menchen / Yayoi Ikawa / Karsten Boldt / Asaf Ta-Shma / Isabella Aprea / Katsura Minegishi / Yuan-Ping Pang / Petra Pennekamp / Niki T. Loges / Johanna Raidt / Rim Hjeij / Julia Wallmeier / Huda Mussaffi / Zeev Perles / Orly Elpeleg / Franziska Rabert / Hidetaka Shiratori /
    Stef J. Letteboer / Nicola Horn / Samuel Young / Timo Strünker / Friederike Stumme / Claudius Werner / Heike Olbrich / Katsuyoshi Takaoka / Takahiro Ide / Wang Kyaw Twan / Luisa Biebach / Jörg Große-Onnebrink / Judith A. Klinkenbusch / Kavita Praveen / Diana C. Bracht / Inga M. Höben / Katrin Junger / Jana Gützlaff / Sandra Cindrić / Micha Aviram / Thomas Kaiser / Yasin Memari / Petras P. Dzeja / Bernd Dworniczak / Marius Ueffing / Ronald Roepman / Kerstin Bartscherer / Nicholas Katsanis / Erica E. Davis / Israel Amirav / Hiroshi Hamada

    Nature Communications, Vol 11, Iss 1, Pp 1-

    2020  Band 20

    Abstract: The mechanism by which adenosine monophosphate modulates dynein ATPase-mediated ciliary and flagellar beating remains obscure. Here the authors identify an axonemal module including cilia and flagella associated protein 45 that supports adenine ... ...

    Abstract The mechanism by which adenosine monophosphate modulates dynein ATPase-mediated ciliary and flagellar beating remains obscure. Here the authors identify an axonemal module including cilia and flagella associated protein 45 that supports adenine nucleotide homeostasis and underlies a human ciliopathy
    Schlagwörter Science ; Q
    Sprache Englisch
    Erscheinungsdatum 2020-11-01T00:00:00Z
    Verlag Nature Portfolio
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

    Volltext online

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

  3. 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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