Risultati della ricerca - Erik‐Jan Kamsteeg

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  1. 1
    The Subcellular Localization of an Aquaporin-2 Tetramer Depends on the Stoichiometry of Phosphorylated and Nonphosphorylated Monomers

    The Subcellular Localization of an Aquaporin-2 Tetramer Depends on the Stoichiometry of Phosphorylated and Nonphosphorylated Monomers di Erik‐Jan Kamsteeg, Ingrid Heijnen, C.H. van Os, Peter M.T. Deen

    Pubblicazione 2000
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  2. 2
    The tetraspanin CD63 enhances the internalization of the H,K-ATPase β-subunit

    The tetraspanin CD63 enhances the internalization of the H,K-ATPase β-subunit di Amy S. Duffield, Erik-Jan Kamsteeg, Andrea N. Brown, Philipp Pagel, Michael J. Caplan

    Pubblicazione 2003
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  3. 3
    Development of Lithium-Induced Nephrogenic Diabetes Insipidus Is Dissociated from Adenylyl Cyclase Activity

    Development of Lithium-Induced Nephrogenic Diabetes Insipidus Is Dissociated from Adenylyl Cyclase Activity di Yuedan Li, Stephen M. Shaw, Erik‐Jan Kamsteeg, Alain Vandewalle, Peter M.T. Deen

    Pubblicazione 2006
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  4. 4
    Hereditary spastic paraplegia caused by a mutation in the VCP gene

    Hereditary spastic paraplegia caused by a mutation in the VCP gene di Susanne T. de Bot, H. Jurgen Schelhaas, Erik‐Jan Kamsteeg, Bart P.C. van de Warrenburg

    Pubblicazione 2012
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  5. 5
    RasGRP1 stimulation enhances ubiquitination and endocytosis of the sodium-chloride cotransporter

    RasGRP1 stimulation enhances ubiquitination and endocytosis of the sodium-chloride cotransporter di Benjamin Ko, Erik‐Jan Kamsteeg, Leslie L. Cooke, Lauren Moddes, Peter M.T. Deen, Robert S. Hoover

    Pubblicazione 2010
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  6. 6
    Clinical exome sequencing—Mistakes and caveats

    Clinical exome sequencing—Mistakes and caveats di Jordi Corominas, Sanne P. Smeekens, Marcel Nelen, Helger G. Yntema, Erik‐Jan Kamsteeg, Rolph Pfundt, Christian Gilissen

    Pubblicazione 2022
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  7. 7
    An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus

    An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus di Erik-Jan Kamsteeg, Thera A.M. Wormhoudt, J.P.L. Rijss, C.H. van Os, Peter M.T. Deen

    Pubblicazione 1999
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  8. 8
    Short-chain ubiquitination mediates the regulated endocytosis of the aquaporin-2 water channel

    Short-chain ubiquitination mediates the regulated endocytosis of the aquaporin-2 water channel di Erik‐Jan Kamsteeg, Giel Hendriks, Michelle Boone, Irene B. M. Konings, Viola Oorschot, Peter van der Sluijs, Judith Klumperman, Peter M.T. Deen

    Pubblicazione 2006
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  9. 9
    GLUT1 deficiency syndrome into adulthood: a follow-up study

    GLUT1 deficiency syndrome into adulthood: a follow-up study di W. G. Leen, Mahshid Talebi‐Taher, Marcel M. Verbeek, Erik‐Jan Kamsteeg, Bart P.C. van de Warrenburg, Michèl A.A.P. Willemsen

    Pubblicazione 2014
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  10. 10
    Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus

    Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus di Erik‐Jan Kamsteeg, Daniel G. Bichet, Irene B. M. Konings, Hubert Nivet, Michelle Lonergan, Marie‐Françoise Arthus, C.H. van Os, Peter M.T. Deen

    Pubblicazione 2003
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  11. 11
    Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

    Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2 di Erik‐Jan Kamsteeg, Wolfram Kreß, Claudio Catalli, Jens Michael Hertz, Martina Witsch‐Baumgartner, Michael F. Buckley, Baziel G.M. van Engelen, Marianne Schwartz, Hans Scheffer

    Pubblicazione 2012
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  12. 12
    Lack of Arginine Vasopressin–Induced Phosphorylation of Aquaporin-2 Mutant AQP2-R254L Explains Dominant Nephrogenic Diabetes Insipidus

    Lack of Arginine Vasopressin–Induced Phosphorylation of Aquaporin-2 Mutant AQP2-R254L Explains Dominant Nephrogenic Diabetes Insipidus di Fabrizio De Mattia, Paul J.M. Savelkoul, Erik‐Jan Kamsteeg, Irene B. M. Konings, Peter van der Sluijs, R. Mallmann, A. Oksche, Peter M.T. Deen

    Pubblicazione 2005
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  13. 13
    Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

    Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases di Lotte Krabbenborg, Lisenka E.L.M. Vissers, Jolanda Schieving, Tjitske Kleefstra, Erik-Jan Kamsteeg, Joris A. Veltman, Michèl A.A.P. Willemsen, Simone van der Burg

    Pubblicazione 2016
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  14. 14
    De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity

    De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity di Li Xia, Sibylle Poschmann, Qiuyun Chen, Walid Fazeli, Nelly Jouayed Oundjian, Francesca M. Snoeijen‐Schouwenaars, Oliver Fricke, Erik-Jan Kamsteeg, Marjolein H. Willemsen, Qing K. Wang

    Pubblicazione 2018
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  15. 15
    Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders

    Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders di Bart P.C. van de Warrenburg, Meyke Schouten, Susanne T. de Bot, Sascha Vermeer, Rowdy Meijer, Maartje Pennings, Christian Gilissen, Michèl AAP Willemsen, Hans Scheffer, Erik‐Jan Kamsteeg

    Pubblicazione 2016
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  16. 16
    The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers

    The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers di Nick Kruijt, Luuk R. van den Bersselaar, Erik‐Jan Kamsteeg, W. Verbeeck, M.M.J. Snoeck, Daphne Everaerd, Wilson F. Abdo, David Jansen, Corrie E. Erasmus, Heinz Jungbluth, Nicol C. Voermans

    Pubblicazione 2020
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  17. 17
    Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies

    Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies di Maartje Pennings, Rowdy Meijer, Monique M. Gerrits, Jannie W.H. Janssen, Rolph Pfundt, Nicole de Leeuw, Christian Gilissen, Thatjana Gardeitchik, Meyke Schouten, Nicol C. Voermans, Bart van de Warrenburg, Erik‐Jan Kamsteeg

    Pubblicazione 2023
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  18. 18
    Congenital myopathy caused by a novel missense mutation in the CFL2 gene

    Congenital myopathy caused by a novel missense mutation in the CFL2 gene di Charlotte W. Ockeloen, H. Jacobus Gilhuis, Rolph Pfundt, Erik‐Jan Kamsteeg, Pankaj B. Agrawal, Alan H. Beggs, A. Dara Hama‐Amin, Adinda Diekstra, Nine V.A.M. Knoers, Martin Lammens, Nens van Alfen

    Pubblicazione 2012
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  19. 19
    An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex.

    An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex. di S.M. Mulders, Daniel G. Bichet, J.P.L. Rijss, Erik‐Jan Kamsteeg, Marie‐Françoise Arthus, Michèle Lonergan, Masasuke Fujiwara, Kenneth Morgan, Richtje Leijendekker, Peter van der Sluijs, C.H. van Os, Peter M.T. Deen

    Pubblicazione 1998
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  20. 20
    Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield

    Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield di Bart van der Sanden, Jordi Corominas, Michelle de Groot, Maartje Pennings, Rowdy Meijer, Nienke E. Verbeek, Bart van de Warrenburg, Meyke Schouten, Helger G. Yntema, Lisenka E.L.M. Vissers, Erik‐Jan Kamsteeg, Christian Gilissen

    Pubblicazione 2021
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