Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification

Autor: Agnes Bloch-Zupan, Tristan Rey, Alexandra Jimenez-Armijo, Marzena Kawczynski, Naji Kharouf, O-Rare consortium, Muriel de La Dure-Molla, Emmanuelle Noirrit, Magali Hernandez, Clara Joseph-Beaudin, Serena Lopez, Corinne Tardieu, Béatrice Thivichon-Prince, ERN Cranio Consortium, Tatjana Dostalova, Milan Macek, International Consortium, Mustapha El Alloussi, Leila Qebibo, Supawich Morkmued, Patimaporn Pungchanchaikul, Blanca Urzúa Orellana, Marie-Cécile Manière, Bénédicte Gérard, Isaac Maximiliano Bugueno, Virginie Laugel-Haushalter, Yves Alembik, Victorin Ahossi, Isabelle Bailleul-Forestier, Isabelle Blanchet, Ariane Berdal, Marie José Boileau, Nicolas Chassaing, François Clauss, Caroline Delfosse, Anne De-Saint-Martin, Jean-Christophe Dahlet, Bérénice Doray, Jean-Luc Davideau, Tiphaine Davit-Béal, Hélène Dollfus, Jean-Pierre Duprez, Muriel de La Dure Molla, Klauss Dieterich, Dominique Droz, Salima El Chehadeh, Olivier Etienne, Edouard Euvrard, Laurence Faivre, Benjamin Fournier, Elsa Garot, Bruno Grollemund, Nathalie Guffon-Fouilhoux, Mathilde Huckert, Bertand Isidor, Sophie Jung, Didier Lacombe, Alinoe Lavillaurex, Marine Lebrun, Bruno Leheup, Adeline Loing, Sandrine Marlin, Jean-Jacques Morrier, Michèle Muller-Bolla, Sylvie Odent, Marie Paule Gelle, Juliette Piard, Linda Pons, Béatrice Richard, Massimiliano Rossi, Prune Sadones, Elise Schaefer, Jean-Louis Sixou, Sylvie Soskin, Marion Strub, Annick Toutain, Alain Verloes, Frédéric Vaysse, Delphine Wagner

Publikováno v: Frontiers in Physiology, Vol 14 (2023)

Amelogenesis imperfecta (AI) is a heterogeneous group of genetic rare diseases disrupting enamel development (Smith et al., Front Physiol, 2017a, 8, 333). The clinical enamel phenotypes can be described as hypoplastic, hypomineralized or hypomature a

Externí odkaz: https://doaj.org/article/be19745ebc994351a79834498f898534

Sensibilisation à la santé bucco-dentaire du tout-petit

Autor: Dominique Droz, Claire Darsat, Stéphanie Jager

Publikováno v: Actualités Pharmaceutiques. 57:35-40

Resume La premiere consultation au cabinet dentaire reste frequemment associee a une urgence. Pourtant, la carie precoce du jeune enfant est une realite clinique a laquelle le chirurgien-dentiste est trop souvent confronte. Il apparait primordial de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5fdb56c2ba18e06b15c33507f97214c1
https://doi.org/10.1016/j.actpha.2018.07.008

Use of new targeted cancer therapies in children: effects on dental development and risk of jaw osteonecrosis: a review

Autor: Ludovic Mansuy, Dominique Droz, Magali Hernandez, Bérengère Phulpin

Publikováno v: Journal of Oral Pathology & Medicine. 46:321-326

New targeted cancer therapies such as bisphosphonates, denosumab, and bevacizumab are routinely used in adult for the past decades. Their introduction into pediatric medicine is more recent that means there is a paucity of data on long-term effects o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1639279ccf367a005e691d9104ce4de
https://doi.org/10.1111/jop.12516

Common SNPs of AmelogeninX (AMELX) and Dental Caries Susceptibility

Autor: Adrien Boillot, E. Moulis, F. Vaysse, O. Laboux, S. Grabar, S. Opsahl Vital, Dominique Droz, Frédéric Courson, J.-Y. Sire, T. Davit-Béal, Anne Gaelle Lafont, J.M. Treluyer, Nawfal Al-Hashimi, Martine Hennequin, Catherine Chaussain, O. Chabadel, Barbara Gasse, Hervé Tassery, J.C. Carel, M. Jeanpierre, C. Beldjord, L. Quinquis

Publikováno v: Journal of Dental Research
Journal of Dental Research, 2013, 92 (5), pp.418-424. ⟨10.1177/0022034513482941⟩
Journal of Dental Research, SAGE Publications (UK and US), 2013, 92 (5), pp.418-424. ⟨10.1177/0022034513482941⟩

International audience; Genetic approaches have shown that several genes could modify caries susceptibility; AmelogeninX (AMELX) has been repeatedly designated. Here, we hypothesized that AMELX mutations resulting in discrete changes of enamel micros

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d83417579adcf80fff8da9d33ca6afe6
https://doi.org/10.1177/0022034513482941

Aberrant Expression of Polycystin-1 in Renal Cell Tumors

Autor: Dominique Droz, Jean Gogusev, Yves Chretien

Publikováno v: Macedonian Journal of Medical Sciences. 1:18-25

Polycystin-1 (PC1) is a cellular transmembrane protein coded by the polycystic kidney disease (PKD1) gene, prevalently expressed in developing/mature kidney and in autosomal polycystic kidney disease (ADPKD). Limited data are available concerning the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7c5cf8bca61ec31361604ecb33c64e38
https://doi.org/10.3889/mjms.1857-5773.2008.0004