Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Mickael Quentric"'
Autor:
Guilhem Lignon, Fleur Beres, Mickael Quentric, Stephan Rouzière, Raphael Weil, Muriel De La Dure-Molla, Adrien Naveau, Renata Kozyraki, Arnaud Dessombz, Ariane Berdal
Publikováno v:
Frontiers in Physiology, Vol 8 (2017)
Background and objective:FAM20A gene mutations result in enamel renal syndrome (ERS) associated with amelogenesis imperfecta (AI), nephrocalcinosis, gingival fibromatosis, and impaired tooth eruption. FAM20A would control the phosphorylation of ename
Externí odkaz:
https://doaj.org/article/acf8b6b1584e4edc9845bf93a9d70eb4
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:
Muriel De La Dure-Molla, Mathilde Huckert, Alan J. Mighell, Mickael Quentric, Ana Carolina Acevedo, Paulo Marcio Yamaguti, Ariane Berdal, Agnès Bloch-Zupan, Miikka Vikkula
Publikováno v:
Orphanet Journal of Rare Diseases
Amelogenesis imperfecta (AI) is a genetically and clinically heterogeneous group of inherited dental enamel defects. Commonly described as an isolated trait, it may be observed concomitantly with other orodental and/or systemic features such as nephr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6d0166f0aa3abb0c9bdcef0ca1e238b
https://doi.org/10.1186/1750-1172-9-84
https://doi.org/10.1186/1750-1172-9-84
Autor:
Victor Simancas Escorcia, Abdoulaziz Diarra, Adrien Naveau, Arnaud Dessombz, Rufino Felizardo, Vidjeacoumary Cannaya, Christos Chatziantoniou, Mickaël Quentric, Miikka Vikkula, Olivier Cases, Ariane Berdal, Muriel De La Dure-Molla, Renata Kozyraki
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 8 (2020)
Enamel renal syndrome (ERS) is a rare recessive disorder caused by loss-of-function mutations in FAM20A (family with sequence similarity 20 member A, OMIM #611062). Enamel renal syndrome is characterized by amelogenesis imperfecta, delayed or failed
Externí odkaz:
https://doaj.org/article/406c84b6f3bc4895964e613dd15074e0