Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Nannette Marr"'
Autor:
Nannette Marr, Fabrizio De Mattia, Nine V A M Knoers, Michèle Lonergan, T. Mary Fujiwara, Paul J.M. Savelkoul, Dominik N. Müller, Alexander Oksche, William J Balfe, Marie-Françoise Arthus, Irene B.M. Konings, Carel H. van Os, Michael P. J. Graat, Walter Rosenthal, Daniel Landau, Susan Hoefs, Peter M.T. Deen, Daniel G. Bichet
Publikováno v:
Journal of the American Society of Nephrology. 13:2267-2277
Mutations in the Aquaporin-2 gene, which encodes a renal water channel, have been shown to cause autosomal nephrogenic diabetes insipidus (NDI), a disease in which the kidney is unable to concentrate urine in response to vasopressin. Most AQP2 missen
Autor:
Michèle Lonergan, Gary L. Robertson, Marie-Françoise Arthus, Daniel G. Bichet, Peter van der Sluijs, Erik-Jan Kamsteeg, Carel H. van Os, Nannette Marr, Paul J.M. Savelkoul, Peter M.T. Deen, Irene B.M. Konings, Fabrizio De Mattia
Publikováno v:
Human Molecular Genetics, 13, 3045-56
Human Molecular Genetics, 13, 24, pp. 3045-56
Human Molecular Genetics, 13, 24, pp. 3045-56
Contains fulltext : 57229.pdf (Publisher’s version ) (Closed access) Vasopressin regulates water homeostasis through insertion of homotetrameric aquaporin-2 (AQP2) water channels in the apical plasma membrane of renal cells. AQP2 mutations cause re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2191f386cb4bc69794d58c45f2bab608
http://hdl.handle.net/2066/57229
http://hdl.handle.net/2066/57229
Autor:
Michèle Lonergan, Walter Rosenthal, Daniel G. Bichet, Peter M.T. Deen, Marie-Françoise Arthus, Alexander Oksche, Carel H. van Os, Nikola Jeck, Nannette Marr, Hannsjörg W. Seyberth
Publikováno v:
Human Molecular Genetics, 11, 779-89
Human Molecular Genetics, 11, 7, pp. 779-89
Human Molecular Genetics, 11, 7, pp. 779-89
Item does not contain fulltext Autosomal nephrogenic diabetes insipidus (NDI), a disease in which the kidney is unable to concentrate urine in response to vasopressin, is caused by mutations in the Aquaporin-2 (AQP2) gene. Analysis of a new family wi
Publikováno v:
The Lancet (London), 359, 9305, pp. 495-497
The Lancet (London), 359, 495-497
The Lancet (London), 359, 495-497
Item does not contain fulltext We have investigated two unrelated families, in which two children had inherited primary nocturnal enuresis, and nephrogenic diabetes insipidus caused by new mutations in the aquaporin-2 gene (AQP2). The mutant AQP2 pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::739471a200a784264db2d4f3d4cca483
https://hdl.handle.net/2066/186540
https://hdl.handle.net/2066/186540
Publikováno v:
Pflügers Archiv : European Journal of Physiology, 442, 73-77
Pflügers Archiv : European Journal of Physiology, 442, 1, pp. 73-77
Pflügers Archiv : European Journal of Physiology, 442, 1, pp. 73-77
Item does not contain fulltext Aquaporin-2 (AQP2) missense mutants in recessive nephrogenic diabetes insipidus (NDI) are all retained in the endoplasmic reticulum (ER), but some could function as water channels. No conclusions could be drawn about th
Autor:
Manuela Schwalbe, Nannette Marr, Stefan Wölfl, Walter Sebald, Klaus Höffken, Anke Meissner, K. O. Kliche, Joachim H. Clement
Publikováno v:
Journal of cancer research and clinical oncology. 126(5)
Bone morphogenetic proteins (BMPs) are involved in the development of various organs including the mammary gland. They are well-regulated and act in a time-, concentration- and cell-type-specific manner. We found that BMP-2 is expressed in primary br
Publikováno v:
Pflügers Archiv : European Journal of Physiology, 440, 513-520
Pflügers Archiv : European Journal of Physiology, 440, 4, pp. 513-520
Pflügers Archiv : European Journal of Physiology, 440, 4, pp. 513-520
Aquaporins are members of a large family of pore-forming intrinsic membrane proteins, the MIP family. Based on their permeability properties they are now further subdivided into aquaporins, with real water-selective pores, and aquaglyceroporins with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6e80e01a86ca16c649acfe6506dbc16
http://hdl.handle.net/2066/141983
http://hdl.handle.net/2066/141983
Autor:
Müller D (AUTHOR), Marr N (AUTHOR), Ankermann T (AUTHOR), Eggert P (AUTHOR), Deen PMT (AUTHOR)
Publikováno v:
Lancet. 2/9/2002, Vol. 359 Issue 9305, p495-497. 3p.
Autor:
Marr, Nannette, Bichet, Daniel G, Lonergan, Michele, Arthus, Marie-Francoise, Jeck, Nikola, Seyberth, Hannsjörg W., Rosenthal, Walter, van Os, Carel H., Oksche, Alexander, Deen, Peter M. T.
Publikováno v:
Human Molecular Genetics; Apr2002, Vol. 11 Issue 7, p779-789, 11p
Autor:
Deen, Peter M.T., Marr, Nannette, Kamsteeg, Erik-Jan, van Balkom, Bas W.M., Deen, P M, Marr, N, Kamsteeg, E J, van Balkom, B W
Publikováno v:
Current Opinion in Nephrology & Hypertension; Nov2000, Vol. 9 Issue 6, p591-595, 5p