Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Marie Lucile Figueres"'
Autor:
Nicolas S. Merle, Anne Grunenwald, Marie-Lucile Figueres, Sophie Chauvet, Marie Daugan, Samantha Knockaert, Tania Robe-Rybkine, Remi Noe, Olivia May, Marie Frimat, Nathan Brinkman, Thomas Gentinetta, Sylvia Miescher, Pascal Houillier, Veronique Legros, Florence Gonnet, Olivier P. Blanc-Brude, Marion Rabant, Regis Daniel, Jordan D. Dimitrov, Lubka T. Roumenina
Publikováno v:
Frontiers in Immunology, Vol 9 (2018)
Intravascular erythrocyte destruction, accompanied by the release of pro-oxidative and pro-inflammatory components hemoglobin and heme, is a common event in the pathogenesis of numerous diseases with heterogeneous etiology and clinical features. A fr
Externí odkaz:
https://doaj.org/article/bb438c2a6781455db45860b5d624b879
Autor:
Patrick A. Curmi, Rachid C. Maroun, Stéphanie Leclerc-Mercier, Rosa Vargas-Poussou, Christine Bodemer, Olivier Devuyst, Yasser Al-Sarraj, Vandana Joshi, Marios Kambouris, Rowaida Z. Taha, Marie Lucile Figueres, Bertrand Knebelmann, Dominique Nochy, Eric Olinger, Smail Hadj-Rabia, Pascal Houillier, Stéphanie Baron, Gaëlle Brideau, Catherine Chaussain, Hatem El-Shanti
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2018, 20 (2), pp.190-201. ⟨10.1038/gim.2017.71⟩
Genetics in Medicine, 2018, 20 (2), pp.190-201. ⟨10.1038/gim.2017.71⟩
Genetics in Medicine, Nature Publishing Group, 2018, 20 (2), pp.190-201. ⟨10.1038/gim.2017.71⟩
Genetics in Medicine, 2018, 20 (2), pp.190-201. ⟨10.1038/gim.2017.71⟩
PurposeWe aimed to identify the genetic cause to a clinical syndrome encompassing hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX syndrome), and to comprehensively delineate the phenotype.MethodsWe p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02b901980359a15e8e8035ca93922a75
https://hal-univ-evry.archives-ouvertes.fr/hal-02173103
https://hal-univ-evry.archives-ouvertes.fr/hal-02173103
Autor:
Dominik N. Müller, Maria Morawietz, Dominique Bazin, Suzanne Menashi, Alain Schmitt, Jean Marc Massé, Marie Lucile Figueres, Agnès Linglart, Francisco de Assis Rocha Neves, Jianghui Hou, Rosa Vargas-Poussou, Ana Carolina Acevedo, Frédéric Courson, Dominique Le Denmat, Alejandro Garcia-Castaño, Matthias Petzold, Delphine Zenaty, Ariane Berdal, Julia Thumfart, Renato Demontis, Andreas Kiesow, Yong Wu, Maria Cristina Manzanares, Jean Christophe Fricain, Catherine Chaussain, Claire Bardet, Patricia Carvalho-Lobato, Georg Lorenz, Benoit Vallée, Sandy Ribes, Paulo Marcio Yamaguti, Mayssam Khaddam, Brigitte Baroukh, Deborah Talmud, Pascal Houillier, Thomas Guilbert, Benjamin Salmon, Tilman Breiderhoff, Gaël Y. Rochefort
Publikováno v:
Journal of Bone and Mineral Research. 31:498-513
Claudin-16 protein (CLDN16) is a component of tight junctions (TJ) with a restrictive distribution so far demonstrated mainly in the kidney. Here, we demonstrate the expression of CLDN16 also in the tooth germ and show that claudin-16 gene (CLDN16) m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b809f0cf3dd1cbae6a92985a7abe2c0d
https://doi.org/10.1002/jbmr.2726
https://doi.org/10.1002/jbmr.2726
Autor:
Marie-Laure Kottler, Agnès Linglart, Gwenaelle Roussey-Kessler, Emma Allain-Launay, Frank Bienaimé, Maryvonne Hourmant, Marie-Lucile Figueres, Amélie Ryckewaert
Publikováno v:
American Journal of Kidney Diseases. 65:122-126
Loss-of-function mutations of CYP24A1, the enzyme that converts the major circulating and active forms of vitamin D to inactive metabolites, recently have been implicated in idiopathic infantile hypercalcemia. Patients with biallelic mutations in CYP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02a35b0261f0f07cd1936d4198a590f2
https://doi.org/10.1053/j.ajkd.2014.06.037
https://doi.org/10.1053/j.ajkd.2014.06.037
Autor:
Anne Grunenwald, Viviane Gnemmi, Sara Petrillo, Samantha Knockaert, Dominique Charue, Olivier Blanc-Brude, Marion Rabant, Sylvain Le Jeune, Helena Rajaratnam, Lubka T. Roumenina, Tania Robe-Rybkine, Sylvia Miescher, Jordan D. Dimitrov, Pascal Houillier, Emanuela Tolosano, Marie-Lucile Figueres, Sanah Bouzekri, Nicolas S. Merle, Véronique Frémeaux-Bacchi, Marie Frimat, Marie Le-Hoang, Nathan Brinkman, Monika Edler, Remi Noe, Sophie Chauvet, Thomas Gentinetta
Publikováno v:
JCI insight. 3(12)
In hemolytic diseases, such as sickle cell disease (SCD), intravascular hemolysis results in the release of hemoglobin, heme, and heme-loaded membrane microvesicles in the bloodstream. Intravascular hemolysis is thus associated with inflammation and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92e83af7979c1146959fd97cf0efb7d7
https://pubmed.ncbi.nlm.nih.gov/29925688
https://pubmed.ncbi.nlm.nih.gov/29925688
Autor:
Colin A. Johnson, Ariane Berdal, Craig B. Langman, Detlef Bockenhauer, P. Suzanne Hart, Alan J. Mighell, Pascal Houillier, Marie-Claude Addor, Denise Ruehmann, Naomi Issler, Alain Verloes, Arnaud Picard, Audrey Asselin, Gwenaelle Roussey, Mickael Quentric, Virginie Laugel, Cédric Le Caignec, H.P.N. Safatle, David A. McCredie, Hercílio Martelli-Júnior, Robert Kleta, Enriko Klootwijk, Thomas C. Hart, Agnès Bloch-Zupan, Miikka Vikkula, Toshiyasu Koike, Marie Lucile Figueres, Bertrand Isidor, Ricardo D. Coletta, Ana Carolina Acevedo, Sandra Gruessel, Hiroshi Kitagawa, Emmanuelle Ginglinger, James A. Poulter, Anita Rauch, Sue Povey, Ute Neugebauer, Graciana Jaureguiberry, Deborah Bartholdi, Stephen B. Walsh, Alexander J. Howie, Muriel De La Dure-Molla, Julien Guiol, Chris F. Inglehearn, Eberhard Schlatter, Jeremy K. Nicholson, Vaksha Patel, Markus Bleich, Robert J. Unwin, Matthieu Schmittbuhl, François Clauss, Horia Stanescu, Clare V. Logan, Steven J. Scheinman, Sandra Pajarola, Pedro E. Dos Santos Netos, Nina Himmerkus, Alan Medlar, Giuseppina Spartà, David A. Parry, Chris Laing, Aurore Coulomb, Suhaila Al-Bahlani, Carolin Sandmann, Isabelle Bailleul-Forestier, Paulo Marcio Yamaguti, Didem Ozdemir-Ozenen, Roger C. Shore, William A. Gahl, Mathilde Huckert, Steven L. Robinette
Publikováno v:
Nephron. Physiology
Nephron. Physiology, vol. 122, no. 1-2, pp. 1-6
Nephron. Physiology, vol. 122, no. 1-2, pp. 1-6
Background/Aims: Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, import
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66a9da0d46a0cce56715c53f3a9ed3b8
https://doi.org/10.1159/000349989
https://doi.org/10.1159/000349989
Autor:
Ana Carolina Acevedo, Ariane Berdal, Pascal Houiller, Muriel De La Dure-Molla, Christophe Ditsch, Luiz Claudio Castro, Paulo Marcio Yamaguti, Marie-Lucile Figueres, D. Hotton, Rosa Vargas-Poussou, Maria do Carmo Scher, Renaud de la Faille, Catherine Chaussain, Maristela Estevão Barbosa, Jean-Christophe Fricain, Claire Bardet, Francisco de Assis Rocha Neves, Sylvie Babajko
Publikováno v:
Journal of medical genetics. 54(1)
Background Amelogenesis imperfecta (AI) is a group of genetic diseases characterised by tooth enamel defects. AI was recently described in patients with familial hypercalciuria and hypomagnesaemia with nephrocalcinosis (FHHNC) caused by CLDN16 mutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ff93ac5d69687869d3b019b41ed073f
https://pubmed.ncbi.nlm.nih.gov/28947560
https://pubmed.ncbi.nlm.nih.gov/28947560
Autor:
Nathan Brinkman, Jordan D. Dimitrov, Sylvain Le Jeune, Marie-Lucile Figueres, Nicolas S. Merle, Helena Rajaratnam, Véronique Frémeaux-Bacchi, Sylvia Miescher, Anne Grunenwald, Sanah Bouzekri, Viviane Gnemmi, Pascal Houillier, Lubka T. Roumenina, Tania Robe-Rybkine, Olivier Blanc-Brude, Dominique Charue, Marie Frimat, Remi Noe
Publikováno v:
Molecular Immunology. 89:164
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c783db8ca2b7594472f7f1429cc4d171
https://doi.org/10.1016/j.molimm.2017.06.135
https://doi.org/10.1016/j.molimm.2017.06.135
Autor:
Marie-Lucile Figueres, Laure-Hélène Noël, Julie Beaume, Guy Touchard, M. Herody, Marion Rabant, Nader Bassilios, Vincent Vuiblet
Publikováno v:
Human pathology. 46(1)
A 39-year-old female patient was admitted to explore chronic renal failure. Clinical history included silicone breast implants. Clinical examination was normal. Urinalysis revealed tubular proteinuria with Bence-Jones κ protein. Monoclonal immunoglo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e2c8b94233da24f572cab582e1d2dcb
https://pubmed.ncbi.nlm.nih.gov/25454480
https://pubmed.ncbi.nlm.nih.gov/25454480
Autor:
Marion Rabant, Martin Flamant, Marie-Lucile Figueres, Laure-Hélène Noël, Thomas Stehlé, Bertrand Arnulf, Anita Rodenas, Marguerite Vignon, Emmanuelle Vidal-Petiot
Publikováno v:
Medicine
Light chain proximal tubulopathy (LCPT) is a rare disease, characterized by cytoplasmic inclusions of light chain (usually kappa) immunoglobulins. Clinical presentation is usually a Fanconi syndrome. The proximal tubular dysfunction can be incomplete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0a429c3a38308f0a6facce7b04ca088
https://doi.org/10.1097/md.0000000000003815
https://doi.org/10.1097/md.0000000000003815