检索结果 - Erik-Jan Kamsteeg

Refine Results
  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 由 Erik‐Jan Kamsteeg, Ingrid Heijnen, C.H. van Os, Peter M.T. Deen

    出版 2000
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 Amy S. Duffield, Erik-Jan Kamsteeg, Andrea N. Brown, Philipp Pagel, Michael J. Caplan

    出版 2003
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 Yuedan Li, Stephen M. Shaw, Erik‐Jan Kamsteeg, Alain Vandewalle, Peter M.T. Deen

    出版 2006
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  4. 4
    Hereditary spastic paraplegia caused by a mutation in the VCP gene

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

    出版 2012
    获取全文 获取全文
    Carta
    加到收藏夹
    Saved in:
  5. 5
    RasGRP1 stimulation enhances ubiquitination and endocytosis of the sodium-chloride cotransporter

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

    出版 2010
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  6. 6
    Clinical exome sequencing—Mistakes and caveats

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

    出版 2022
    获取全文
    Revisão
    加到收藏夹
    Saved in:
  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 由 Erik-Jan Kamsteeg, Thera A.M. Wormhoudt, J.P.L. Rijss, C.H. van Os, Peter M.T. Deen

    出版 1999
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 Erik‐Jan Kamsteeg, Giel Hendriks, Michelle Boone, Irene B. M. Konings, Viola Oorschot, Peter van der Sluijs, Judith Klumperman, Peter M.T. Deen

    出版 2006
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  9. 9
    GLUT1 deficiency syndrome into adulthood: a follow-up study

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

    出版 2014
    获取全文 获取全文
    Revisão
    加到收藏夹
    Saved in:
  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 由 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

    出版 2003
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 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

    出版 2012
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 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

    出版 2005
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 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

    出版 2016
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 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

    出版 2018
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 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

    出版 2016
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 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

    出版 2020
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 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

    出版 2023
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 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

    出版 2012
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  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. 由 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

    出版 1998
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 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

    出版 2021
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:

检索工具: