Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome

Autor: Rosa Vargas-Poussou, Karin Dahan, Olivier Devuyst, Nine V A M Knoers, Martin Konrad, Hendrica Belge, Xavier Jeunemaitre, Eva Riveira-Munoz, Laurence Strompf, Anne Blanchard, Nikola Jeck

Publikováno v: Nephrology Dialysis Transplantation; Vol 23
Nephrology, Dialysis, Transplantation, 23, 3120-5
Nephrology, Dialysis, Transplantation, 23, 10, pp. 3120-5
Nephrology Dialysis Transplantation

Item does not contain fulltext BACKGROUND: Loss-of-function mutations in SLC12A3 coding for the thiazide-sensitive NaCl cotransporter (NCC) cause Gitelman's syndrome (GS), a recessively inherited salt-losing tubulopathy. Most GS patients are compound

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a9e352b96b15aab179bb182aa786eca
https://hdl.handle.net/2066/70333

Spectrum of mutations in Gitelman syndrome

Autor: Annabelle Venisse, Diana Kahila, Claire Rigothier, Bernard Grisart, Bruno Moulin, Marie-Christine Vantyghem, Ivan Tack, Anne-Paule Gimenez-Roqueplo, Franck Bridoux, Jean-Philippe Haymann, Olivier Devuyst, Hubert Nivet, Rosa Vargas-Poussou, Laurence Dubourg, Eva Riveira-Munoz, Anne Blanchard, Karin Dahan, Michel Godin, Pascal Houillier, Huguette Debaix, Bertrand Dussol, Robert J. Unwin, Xavier Jeunemaitre

Publikováno v: Journal of the American Society of Nephrology
Journal of the American Society of Nephrology, American Society of Nephrology, 2011, 22 (4), pp.693-703. 〈10.1681/ASN.2010090907〉
Journal of the American Society of Nephrology, American Society of Nephrology, 2011, 22 (4), pp.693-703. ⟨10.1681/ASN.2010090907⟩
Journal of the American Society of Nephrology; Vol 22

International audience; Gitelman's syndrome (GS) is a rare, autosomal recessive, salt-losing tubulopathy caused by mutations in the SLC12A3 gene, which encodes the thiazide-sensitive NaCl cotransporter (NCC). Because 18 to 40% of suspected GS patient

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa9a0621f76f412ba110f560492bd1fc
https://hal.archives-ouvertes.fr/hal-00945691

HIES

Autor: Dieter Metze, Vanessa F. Cury, Ricardo S. Gomez, Luiz Marco, Dror Robinson, Eitan Melamed, Alexander K. C. Leung, Jae-Hwan Nam, Yoichi Matsubara, Keiya Tada, Seda Sancak, Ralf Paschke, Susan Kupka, Stefan K. Plontke, Hans-Peter Zenner, Gohar Azhar, Jeanne Y. Wei, Y. James Kang, Katsuhiko Yoshizawa, Abraham Nyska, Graeme Jones, Kathy Triantafilou, Philipp M. Lepper, Johannes G. Bode, Clifford E. Kashtan, Klaus Schümann, Günter Weiss, Christine Skerka, Christoph Licht, Peter F. Zipfel, Hugo ten Cate, Mark Oette, Dieter Häussinger, Isabelle L. Ruel, Patrick Couture, Benoît Lamarche, Sören V. Siegmund, Stephan L. Haas, Manfred V. Singer, Tobias Heintges, Ralf Kubitz, Andreas Erhardt, Frank Lammert, Johann Lorenzen, Hubert E. Blum, Darius Moradpour, Georg Merker, Matthias Wettstein, Mónica Guevara, Pere Ginès, Hugo Ten Cate, Ulrich Heininger, Markus Pfister, Marcus Schmitt, Arend F. L. Schinkel, Don Poldermans, Jeroen J. Bax, Heimo Mairbäurl, Peter Bärtsch, Georg H. Merker, Percy Chiu, Richard S. Legro, William L. Nyhan, Sandeep S. Dave, Jürgen Kohlhase, Arne W. J. H. Dielis, S. Harvey Mudd, Christian Simon, Oliver Schildgen, Suncanica Ljubin Sternak, Gordana Mlinaric-Galinovic, Eggert Stockfleth, Ingo Nindl, Inga Zerr, Mathias Bähr, Nicole Stankus, Katrin S. Lindenberg, G. Bernhard Landwehrmeyer, Jonas Denecke, Shoichi Katsuragi, Bodo Grimbacher, Cristina Woellner, Steven Holland, Christian A. Koch, Michael T. Geraghty, Peter L. M. Jansen, Robert P. Whitehead, Edward M. Brown, Mei Bai, T. John Martin, Joaquin Escribano, Victor M. Garca Nieto, Patrick TS Ma, Lucia K Ma, Alexander K. C Leung, Angelika F. Hahn, Mallikarjuna Nallegowda, Upinderpal Singh, Mangajji R. Umapathi, Rakesh Kumar, Raffaele Badolato, Benjamin Glaser, Ruth Schreiber, Daniel Landau, Goo Taeg Oh, Carla Kallen, Joel Michels Topf, Patrick Murray, Jaime Tejedor, Manish Kumar Varshney, Kanya Suphapeetiporn, Vorasuk Shotelersuk, Bernd Hoppe, Albrecht Hesse, Geoffrey N. Hendy, David E. C. Cole, Charles R. Nolan, Haruo Shintaku, Hiroshi Ichinose, Henry J. Mankin, Gabriel I. Uwaifo, Bettina C. Reulecke, Werner Heppt, Annette Cryer, Rade Tomic, Jesse Roman, Jan Rémi, Soheyl Noachtar, Miki Nagase, Toshiro Fujita, Angel Cogolludo, Jason X.-J. Yuan, Lewis J. Rubin, Manning R. Davis, T. Balakrishna Poduval, Saurabh Chatterjee, Hulya Iliksu Gozu, Markus Eszlinger, Rifat Bircan, Julia Lüblinghoff, Julia Lüblighoff, Roland Pfäffle, Shui-Ping Zhao, Hui-Jun Ye, Jens Mogensen, Rejin Kebudi, Sezer Saglam, Michael A. Becker, John R. Asplin, Robert W. Gotshall, Hubert Scharnagl, Winfried März, John A. Sayer, Simon H. Pearce, James J. Paparello, Philip J. Klemmer, Abhijit V. Kshirsagar, Patrick T. S. Ma, Lucia K. Ma, Marco Castori, Roswitha Siener, Pirmin Habermehl, Markus Knuf, Christoph Michalski, Jörg Kleeff, Annette Richter-Unruh, Denis J. Headon, Paul A. Overbeek, Alanna F. Bree, Hendrica Belge, Eva Riveira-Munoz, Olivier Devuyst, Stefanie Weber, Michael L. Moritz, Juan Carlos Ayus, Simon H. S. Pearce, Michael P. Whyte, Masafumi Fukagawa, Motoko Tanaka, Harriet S. Tenenhouse, Angelika Gutenberg, Patrizio Caturegli, Christy T. Oswalt, Pirooz Eghtesady, Manish Suneja, Christie P. Thomas, Hirokazu Sasaki, Tetsuo Yukioka, Maurice A. M. Van Steensel, Rongqian Wu, Ping Wang, Giora Feuerstein, Robert Ruffolo, Hyder A. Jinnah, James C. Harris, Holger K. Eltzschig, Almut Grenz

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1fc837e20883ab03506b1f900e21302d
https://doi.org/10.1007/978-3-540-29676-8_8797

Hyperostosis Corticalis Deformans Juvenilis

Autor: Dieter Metze, Vanessa F. Cury, Ricardo S. Gomez, Luiz Marco, Dror Robinson, Eitan Melamed, Alexander K. C. Leung, Jae-Hwan Nam, Yoichi Matsubara, Keiya Tada, Seda Sancak, Ralf Paschke, Susan Kupka, Stefan K. Plontke, Hans-Peter Zenner, Gohar Azhar, Jeanne Y. Wei, Y. James Kang, Katsuhiko Yoshizawa, Abraham Nyska, Graeme Jones, Kathy Triantafilou, Philipp M. Lepper, Johannes G. Bode, Clifford E. Kashtan, Klaus Schümann, Günter Weiss, Christine Skerka, Christoph Licht, Peter F. Zipfel, Hugo ten Cate, Mark Oette, Dieter Häussinger, Isabelle L. Ruel, Patrick Couture, Benoît Lamarche, Sören V. Siegmund, Stephan L. Haas, Manfred V. Singer, Tobias Heintges, Ralf Kubitz, Andreas Erhardt, Frank Lammert, Johann Lorenzen, Hubert E. Blum, Darius Moradpour, Georg Merker, Matthias Wettstein, Mónica Guevara, Pere Ginès, Hugo Ten Cate, Ulrich Heininger, Markus Pfister, Marcus Schmitt, Arend F. L. Schinkel, Don Poldermans, Jeroen J. Bax, Heimo Mairbäurl, Peter Bärtsch, Georg H. Merker, Percy Chiu, Richard S. Legro, William L. Nyhan, Sandeep S. Dave, Jürgen Kohlhase, Arne W. J. H. Dielis, S. Harvey Mudd, Christian Simon, Oliver Schildgen, Suncanica Ljubin Sternak, Gordana Mlinaric-Galinovic, Eggert Stockfleth, Ingo Nindl, Inga Zerr, Mathias Bähr, Nicole Stankus, Katrin S. Lindenberg, G. Bernhard Landwehrmeyer, Jonas Denecke, Shoichi Katsuragi, Bodo Grimbacher, Cristina Woellner, Steven Holland, Christian A. Koch, Michael T. Geraghty, Peter L. M. Jansen, Robert P. Whitehead, Edward M. Brown, Mei Bai, T. John Martin, Joaquin Escribano, Victor M. Garca Nieto, Patrick TS Ma, Lucia K Ma, Alexander K. C Leung, Angelika F. Hahn, Mallikarjuna Nallegowda, Upinderpal Singh, Mangajji R. Umapathi, Rakesh Kumar, Raffaele Badolato, Benjamin Glaser, Ruth Schreiber, Daniel Landau, Goo Taeg Oh, Carla Kallen, Joel Michels Topf, Patrick Murray, Jaime Tejedor, Manish Kumar Varshney, Kanya Suphapeetiporn, Vorasuk Shotelersuk, Bernd Hoppe, Albrecht Hesse, Geoffrey N. Hendy, David E. C. Cole, Charles R. Nolan, Haruo Shintaku, Hiroshi Ichinose, Henry J. Mankin, Gabriel I. Uwaifo, Bettina C. Reulecke, Werner Heppt, Annette Cryer, Rade Tomic, Jesse Roman, Jan Rémi, Soheyl Noachtar, Miki Nagase, Toshiro Fujita, Angel Cogolludo, Jason X.-J. Yuan, Lewis J. Rubin, Manning R. Davis, T. Balakrishna Poduval, Saurabh Chatterjee, Hulya Iliksu Gozu, Markus Eszlinger, Rifat Bircan, Julia Lüblinghoff, Julia Lüblighoff, Roland Pfäffle, Shui-Ping Zhao, Hui-Jun Ye, Jens Mogensen, Rejin Kebudi, Sezer Saglam, Michael A. Becker, John R. Asplin, Robert W. Gotshall, Hubert Scharnagl, Winfried März, John A. Sayer, Simon H. Pearce, James J. Paparello, Philip J. Klemmer, Abhijit V. Kshirsagar, Patrick T. S. Ma, Lucia K. Ma, Marco Castori, Roswitha Siener, Pirmin Habermehl, Markus Knuf, Christoph Michalski, Jörg Kleeff, Annette Richter-Unruh, Denis J. Headon, Paul A. Overbeek, Alanna F. Bree, Hendrica Belge, Eva Riveira-Munoz, Olivier Devuyst, Stefanie Weber, Michael L. Moritz, Juan Carlos Ayus, Simon H. S. Pearce, Michael P. Whyte, Masafumi Fukagawa, Motoko Tanaka, Harriet S. Tenenhouse, Angelika Gutenberg, Patrizio Caturegli, Christy T. Oswalt, Pirooz Eghtesady, Manish Suneja, Christie P. Thomas, Hirokazu Sasaki, Tetsuo Yukioka, Maurice A. M. Van Steensel, Rongqian Wu, Ping Wang, Giora Feuerstein, Robert Ruffolo, Hyder A. Jinnah, James C. Harris, Holger K. Eltzschig, Almut Grenz

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::65438b948a0769c06882e3019033d0a5
https://doi.org/10.1007/978-3-540-29676-8_7258

Hereditary Nephritis

Autor: Dieter Metze, Vanessa F. Cury, Ricardo S. Gomez, Luiz Marco, Dror Robinson, Eitan Melamed, Alexander K. C. Leung, Jae-Hwan Nam, Yoichi Matsubara, Keiya Tada, Seda Sancak, Ralf Paschke, Susan Kupka, Stefan K. Plontke, Hans-Peter Zenner, Gohar Azhar, Jeanne Y. Wei, Y. James Kang, Katsuhiko Yoshizawa, Abraham Nyska, Graeme Jones, Kathy Triantafilou, Philipp M. Lepper, Johannes G. Bode, Clifford E. Kashtan, Klaus Schümann, Günter Weiss, Christine Skerka, Christoph Licht, Peter F. Zipfel, Hugo ten Cate, Mark Oette, Dieter Häussinger, Isabelle L. Ruel, Patrick Couture, Benoît Lamarche, Sören V. Siegmund, Stephan L. Haas, Manfred V. Singer, Tobias Heintges, Ralf Kubitz, Andreas Erhardt, Frank Lammert, Johann Lorenzen, Hubert E. Blum, Darius Moradpour, Georg Merker, Matthias Wettstein, Mónica Guevara, Pere Ginès, Hugo Ten Cate, Ulrich Heininger, Markus Pfister, Marcus Schmitt, Arend F. L. Schinkel, Don Poldermans, Jeroen J. Bax, Heimo Mairbäurl, Peter Bärtsch, Georg H. Merker, Percy Chiu, Richard S. Legro, William L. Nyhan, Sandeep S. Dave, Jürgen Kohlhase, Arne W. J. H. Dielis, S. Harvey Mudd, Christian Simon, Oliver Schildgen, Suncanica Ljubin Sternak, Gordana Mlinaric-Galinovic, Eggert Stockfleth, Ingo Nindl, Inga Zerr, Mathias Bähr, Nicole Stankus, Katrin S. Lindenberg, G. Bernhard Landwehrmeyer, Jonas Denecke, Shoichi Katsuragi, Bodo Grimbacher, Cristina Woellner, Steven Holland, Christian A. Koch, Michael T. Geraghty, Peter L. M. Jansen, Robert P. Whitehead, Edward M. Brown, Mei Bai, T. John Martin, Joaquin Escribano, Victor M. Garca Nieto, Patrick TS Ma, Lucia K Ma, Alexander K. C Leung, Angelika F. Hahn, Mallikarjuna Nallegowda, Upinderpal Singh, Mangajji R. Umapathi, Rakesh Kumar, Raffaele Badolato, Benjamin Glaser, Ruth Schreiber, Daniel Landau, Goo Taeg Oh, Carla Kallen, Joel Michels Topf, Patrick Murray, Jaime Tejedor, Manish Kumar Varshney, Kanya Suphapeetiporn, Vorasuk Shotelersuk, Bernd Hoppe, Albrecht Hesse, Geoffrey N. Hendy, David E. C. Cole, Charles R. Nolan, Haruo Shintaku, Hiroshi Ichinose, Henry J. Mankin, Gabriel I. Uwaifo, Bettina C. Reulecke, Werner Heppt, Annette Cryer, Rade Tomic, Jesse Roman, Jan Rémi, Soheyl Noachtar, Miki Nagase, Toshiro Fujita, Angel Cogolludo, Jason X.-J. Yuan, Lewis J. Rubin, Manning R. Davis, T. Balakrishna Poduval, Saurabh Chatterjee, Hulya Iliksu Gozu, Markus Eszlinger, Rifat Bircan, Julia Lüblinghoff, Julia Lüblighoff, Roland Pfäffle, Shui-Ping Zhao, Hui-Jun Ye, Jens Mogensen, Rejin Kebudi, Sezer Saglam, Michael A. Becker, John R. Asplin, Robert W. Gotshall, Hubert Scharnagl, Winfried März, John A. Sayer, Simon H. Pearce, James J. Paparello, Philip J. Klemmer, Abhijit V. Kshirsagar, Patrick T. S. Ma, Lucia K. Ma, Marco Castori, Roswitha Siener, Pirmin Habermehl, Markus Knuf, Christoph Michalski, Jörg Kleeff, Annette Richter-Unruh, Denis J. Headon, Paul A. Overbeek, Alanna F. Bree, Hendrica Belge, Eva Riveira-Munoz, Olivier Devuyst, Stefanie Weber, Michael L. Moritz, Juan Carlos Ayus, Simon H. S. Pearce, Michael P. Whyte, Masafumi Fukagawa, Motoko Tanaka, Harriet S. Tenenhouse, Angelika Gutenberg, Patrizio Caturegli, Christy T. Oswalt, Pirooz Eghtesady, Manish Suneja, Christie P. Thomas, Hirokazu Sasaki, Tetsuo Yukioka, Maurice A. M. Van Steensel, Rongqian Wu, Ping Wang, Giora Feuerstein, Robert Ruffolo, Hyder A. Jinnah, James C. Harris, Holger K. Eltzschig, Almut Grenz

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::654406890d6cbc13b91ac384d38e697b
https://doi.org/10.1007/978-3-540-29676-8_8688