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

Amelogenin in calcified matrices of odontogenic cysts and odontogenic tumors: An immunohistochemical study

Autor: Blanca Urzúa, Richard Ahumada-Ossandón, Daniel Casa-Weisser, María Eugenia Franco-Martínez, Ana Ortega-Pinto

Publikováno v: Journal of Dental Sciences, Vol 16, Iss 1, Pp 7-14 (2021)

Background/purpose: There are few studies comparing the expression of enamel proteins, such as amelogenin, and cytokeratins in cyst and odontogenic tumors like in ameloblastoma and odontogenic keratocyst, indicating that amelogenin could be a potenti

Externí odkaz: https://doaj.org/article/06864033332a46a5a6cdb23d32d2ec24

Case Report: Crown Resorption in a Patient With Junctional Epidermolysis Bullosa and Amelogenesis Imperfecta With LAMB3 Gene Mutations

Autor: Blanca Urzúa, Susanne Krämer, Irene Morales-Bozo, Claudia Camacho, María Joao Yubero, Francis Palisson, Ignacia Fuentes, Ana Ortega-Pinto

Publikováno v: Frontiers in Dental Medicine, Vol 2 (2021)

Background: Epidermolysis bullosa (EB) corresponds to a series of conditions characterized by extreme fragility of the skin and/or mucous membranes. Of the four main types of EB, junctional EB (JEB) is the most associated with alterations in the teet

Externí odkaz: https://doaj.org/article/f0f53c89356e44b18e66a736faf2e308

Characterization of a novel antibiofilm effect of nitric oxide-releasing aspirin (NCX-4040) on Candida albicans isolates from denture stomatitis patients.

Autor: Francisco Madariaga-Venegas, Roberto Fernández-Soto, Luisa Fernanda Duarte, Nicole Suarez, Daniela Delgadillo, José A Jara, Ricardo Fernández-Ramires, Blanca Urzúa, Alfredo Molina-Berríos

Publikováno v: PLoS ONE, Vol 12, Iss 5, p e0176755 (2017)

Candida albicans biofilms play a key role in denture stomatitis, one of the most common oral pathologies in elderly people. Because biofilms are highly resistant to antifungals, new pharmacological strategies are needed. Aspirin and nitric oxide-dono

Externí odkaz: https://doaj.org/article/98106f5489b34706ab755202cc762900

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