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

Exploring the Pool of Pathogenic Variants of Amelogenesis Imperfecta: An Approach to the Understanding of Its Genetic Architecture

Autor: Blanca Urzúa, Ana Ortega-Pinto, Daniela Adorno-Farias, Irene Morales-Bozo, Sandra Rojas-Flores, Diego Briones-Marín, Constanza Lepiman-Torres

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

Objective: To identify which genes are associated with the clinical phenotype of amelogenesis Imperfecta (AI) and to elucidate which of these genes participate in the determination of isolated and syndromic forms.Methods: In this review, all data on

Externí odkaz: https://doaj.org/article/480615746acb4d24acab42a9a3d05ac9

Diversity of clinical, radiographic and genealogical findings in 41 families with amelogenesis imperfecta

Autor: Daniela Adorno-Farias, Ana Ortega-Pinto, Paulina Gajardo, Ana Salazar, Irene Morales-Bozo, Fabiola Werlinger, Sandra Rojas-Flores, Alfredo Molina-Berríos, Sonia Echeverría-López, José Jara-Sandoval, Lilian Jara, Blanca Urzúa

Publikováno v: Journal of Applied Oral Science, Vol 27, Iss 0 (2019)

Abstract Amelogenesis imperfecta (AI) is a group of enamel development disorders that alter the structure and chemical composition of the tissue. There is great variability in the clinical presentation; according to Witkop, AI can be categorized into

Externí odkaz: https://doaj.org/article/b2d97fe6ed0647cc98b80bd33e6aede8

Integrity of the Oral Tissues in Patients with Solid-Organ Transplants

Autor: Gonzalo Rojas, Loreto Bravo, Karina Cordero, Luis Sepúlveda, Leticia Elgueta, Juan Carlos Díaz, Blanca Urzúa, Irene Morales

Publikováno v: Journal of Transplantation, Vol 2012 (2012)

The relationship between the use of immunosuppressants in solid-organ transplant patients and oral tissue abnormalities has been recognized. The objective of this study was to determine the state of oral tissue integrity in renal, heart, and liver tr

Externí odkaz: https://doaj.org/article/1f19b9d50db2414d9fa3b05ba7c2d4d2

Unraveling the Molecular Basis of Mycosporine Biosynthesis in Fungi

Autor: Dionisia Sepúlveda, Sebastián Campusano, Martín Moliné, Salvador Barahona, Marcelo Baeza, Jennifer Alcaíno, Fernando Colabella, Blanca Urzúa, Diego Libkind, Víctor Cifuentes

Publikováno v: International Journal of Molecular Sciences; Volume 24; Issue 6; Pages: 5930

The Phaffia rhodozyma UCD 67-385 genome harbors a 7873 bp cluster containing DDGS, OMT, and ATPG, encoding 2-desmethy-4-deoxygadusol synthase, O-methyl transferase, and ATP-grasp ligase, respectively, of the mycosporine glutaminol (MG) biosynthesis p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55998daef5cc30f6de6fc46a037a2097