Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Hélène Louis dit Picard"'
Autor:
Stephen Murtough, Deepak Babu, Catherine M. Webb, Hélène Louis dit Picard, Lisa A. McGinty, Jennifer Chao-Chu, Ryan Pink, Andrew R. Silver, Howard L. Smart, John K. Field, Philip Woodland, Janet M. Risk, Diana C. Blaydon, Daniel J. Pennington, David P. Kelsell
Publikováno v:
Gastro Hep Advances, Vol 3, Iss 3, Pp 385-395 (2024)
Background and Aims: Survival rates for esophageal squamous cell carcinoma (ESCC) are extremely low due to the late diagnosis of most cases. An understanding of the early molecular processes that lead to ESCC may facilitate opportunities for early di
Externí odkaz:
https://doaj.org/article/a85cc09e91124fee910a8d340d8707ab
Autor:
Ilektra Kouranti, Rosa Vargas-Poussou, Gerardo Gamba, Marguerite Hureaux, Richard Grimm, Eric Clauser, Robert J. Unwin, Tiffany Migeon, Nirubiah Thurairajasingam, Marcio Do Cruzeiro, Richard A. Coleman, Chloé Rafael, Eduardo R. Argaiz, Xavier Jeunemaitre, Kevin O’Shaugnessy, Stéphanie Baron, Hélène Louis-Dit-Picard, Ivan Tack, Juliette Hadchouel, María Chávez-Canales, Paolo Mulatero, Paul A. Welling, Waed Abdel-Khalek, Xavier Girerd, Stéphane Decramer, Irmine Loisel-Ferreira, Olivier Staub, Sarah Vacle, Gwenaelle Roussey
Publikováno v:
J Clin Invest
Journal of Clinical Investigation
Journal of Clinical Investigation, 2020, 130 (12), pp.6379-6394. ⟨10.1172/JCI94171⟩
Journal of Clinical Investigation
Journal of Clinical Investigation, 2020, 130 (12), pp.6379-6394. ⟨10.1172/JCI94171⟩
International audience; Gain-of-function mutations in with no lysine (K) 1 (WNK1) and WNK4 genes are responsible for familial hyperkalemic hypertension (FHHt), a rare, inherited disorder characterized by arterial hypertension and hyperkalemia with me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9488687e9cc026cdacde94426bd4b0f5
https://pubmed.ncbi.nlm.nih.gov/32790646
https://pubmed.ncbi.nlm.nih.gov/32790646
Publikováno v:
médecine/sciences. 28:703-706
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2542c413bfd160d482946c84a5567a5d
https://doi.org/10.1051/medsci/2012288010
https://doi.org/10.1051/medsci/2012288010
Autor:
Michael Bandell, Stuart M. Cahalan, Ardem Patapoutian, Jayanti Mathur, Gérard Tertian, Juliette Albuisson, Swetha E. Murthy, Pierre-Simon Rohrlich, Pierre Yves Syfuss, Fabienne Toutain, Hélène Louis-Dit-Picard, Jean Pierre De Jaureguiberry, Bertrand Coste, Jean Delaunay, Véronique Picard, Loïc Garçon, Madeleine Fénéant-Thibault, Xavier Jeunemaitre
Publikováno v:
Nature Communications. 4
Nature Communications 4: Article number: 1884 (2013); Published: 21 May 2013; Updated: 23 September 2013. In the first paragraph of the Methods section in this Article, case 8 (K8 in Table 1) was incorrectly referred to as case 4. The following is th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6f50d4ff041de9f2ac5f77df2597b494
https://doi.org/10.1038/ncomms3440
https://doi.org/10.1038/ncomms3440
Autor:
Jean Pierre De Jaureguiberry, Pierre-Simon Rohrlich, Loïc Garçon, Gérard Tertian, Swetha E. Murthy, Madeleine Fénéant-Thibault, Michael Bandell, Xavier Jeunemaitre, Fabienne Toutain, Véronique Picard, Bertrand Coste, Juliette Albuisson, Pierre Yves Syfuss, Stuart M. Cahalan, Ardem Patapoutian, Hélène Louis-Dit-Picard, Jean Delaunay, Jayanti Mathur
Publikováno v:
Nature Communications
Nature Communications, Nature Publishing Group, 2013, 4 (1), pp.1884. ⟨10.1038/ncomms2899⟩
Nature communications
Nature Communications, 2013, 4 (1), pp.1884. ⟨10.1038/ncomms2899⟩
Nature Communications, Nature Publishing Group, 2013, 4, pp.1884. 〈10.1038/ncomms2899〉
Nature Communications, Nature Publishing Group, 2013, 4 (1), pp.1884. ⟨10.1038/ncomms2899⟩
Nature communications
Nature Communications, 2013, 4 (1), pp.1884. ⟨10.1038/ncomms2899⟩
Nature Communications, Nature Publishing Group, 2013, 4, pp.1884. 〈10.1038/ncomms2899〉
International audience; Dehydrated hereditary stomatocytosis is a genetic condition with defective red blood cell membrane properties that causes an imbalance in intracellular cation concentrations. Recently, two missense mutations in the mechanicall
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef77f03fa7a8efed7c51c6357c397d40
https://doi.org/10.1038/ncomms2899
https://doi.org/10.1038/ncomms2899
Autor:
Daniel Trujillano, Patrick Niaudet, Amélie Bonnefond, Xavier Jeunemaitre, Pascal Houillier, Olivier Sand, Mark J. Caulfield, Geneviève Beaurain, Stéphanie Miserey-Lenkei, Paul Landais, Robert J. Unwin, Georg Ehret, Chebel Mourani, Olivier Chabre, Vincent L.M. Esnault, Corinne Isnard Bagnis, Christophe Simian, Juliette Hadchouel, Patrick Bruneval, Stephan Ossowski, Béatrice Fiquet, Christelle Soukaseum, Hélène Louis-Dit-Picard, Christel Thauvin, Emmanuelle Vidal-Petiot, Julien Barc, Olena Pylypenko, Steven D. Soroka, Nabila Bouatia-Naji, Michel Delahousse, Philippe Froguel, Jean-Jacques Schott, Xavier Estivill, Jens Koenig, Chantal Mandet, Vincent Probst, Martin Konrad, Françoise Broux
Publikováno v:
Nature Genetics
Nature Genetics, Nature Publishing Group, 2012, 44 (4), pp.456-460. ⟨10.1038/ng.2218⟩
Nature Genetics, Vol. 44, No 4 (2012) pp. 456-60,S1-3
Nature Genetics, 2012, 44 (4), pp.456-460. ⟨10.1038/ng.2218⟩
Nature Genetics; Vol 44
Nature Genetics, Nature Publishing Group, 2012, 44 (4), pp.456-460. ⟨10.1038/ng.2218⟩
Nature Genetics, Vol. 44, No 4 (2012) pp. 456-60,S1-3
Nature Genetics, 2012, 44 (4), pp.456-460. ⟨10.1038/ng.2218⟩
Nature Genetics; Vol 44
Familial hyperkalemic hypertension (FHHt) is a Mendelian form of arterial hypertension that is partially explained by mutations in WNK1 and WNK4 that lead to increased activity of the Na(+)-Cl(-) cotransporter (NCC) in the distal nephron. Using combi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b30783810c3005d879db53ce63e20ef
https://hal.archives-ouvertes.fr/hal-02349651
https://hal.archives-ouvertes.fr/hal-02349651
Autor:
Christel Thauvin, Amélie Bonnefond, Pascal Houillier, Olivier Chabre, Xavier Jeunemaitre, Olena Pylypenko, Steven D. Soroka, Michel Delahousse, Olivier Sand, Philippe Froguel, Robert J. Unwin, Emmanuelle Vidal-Petiot, Corinne Isnard Bagnis, Martin Konrad, Christelle Soukaseum, Xavier Estivill, Jens Koenig, Vincent L.M. Esnault, Patrick Bruneval, Françoise Broux, Julien Barc, Daniel Trujillano, Stephan Ossowski, Béatrice Fiquet, Juliette Hadchouel, Chantal Mandet, Vincent Probst, Hélène Louis-Dit-Picard, Mark J. Caulfield, Geneviève Beaurain, Jean-Jacques Schott, Patrick Niaudet, Stéphanie Miserey-Lenkei, Georg Ehret, Chebel Mourani, Paul Landais, Nabila Bouatia-Naji, Christophe Simian
Publikováno v:
Nature Genetics. 44:609-609
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2317894394142039b6347c0bb9f08b85
https://doi.org/10.1038/ng0512-609
https://doi.org/10.1038/ng0512-609