Rare dentin defects: Understanding the pathophysiological mechanisms of COLXVA1 mutations

• Isaac Maximiliano Bugueno,
• Tristan Rey,
• Alexandra Jimenez-Armijo,
• Marzena Kawczynski,
• Naji Kharouf,
• Marie-Cécile Manière,
• Yann Herault,
• Agnès Bloch-Zupan,
• Virginie Haushalter-Laugel

Affiliations

Isaac Maximiliano Bugueno

Institute of Genetics and Molecular and Cellular Biology (IGBMC), CNRS- UMR7104, INSERM U1258, Université de Strasbourg, Illkirch 67400, France; Faculty of Dentistry, Université de Strasbourg, Strasbourg 67000, France; Reference Center for Rare Oral and Dental Diseases (CRMR-O-Rares), Oral Medicine and Surgery Department, Hôpitaux Universitaires de Strasbourg (HUS), Strasbourg 67000, France; Rare Diseases Health Network “TETE COU” & European Reference Network ERN CRANIO, Strasbourg 67000, France; Orofacial Development and Regeneration, Faculty of Medicine, Institute of Oral Biology, Centre of Dental Medicine, University of Zürich, Zürich 8032, Switzerland

Tristan Rey

Institute of Genetics and Molecular and Cellular Biology (IGBMC), CNRS- UMR7104, INSERM U1258, Université de Strasbourg, Illkirch 67400, France; “Institut de Génétique Médicale d'Alsace”, Laboratory of Genetic Diagnostic, Hôpitaux Universitaires de Strasbourg (HUS), Strasbourg 67000, France

Alexandra Jimenez-Armijo

Institute of Genetics and Molecular and Cellular Biology (IGBMC), CNRS- UMR7104, INSERM U1258, Université de Strasbourg, Illkirch 67400, France; Faculty of Dentistry, Université de Strasbourg, Strasbourg 67000, France; Reference Center for Rare Oral and Dental Diseases (CRMR-O-Rares), Oral Medicine and Surgery Department, Hôpitaux Universitaires de Strasbourg (HUS), Strasbourg 67000, France; Rare Diseases Health Network “TETE COU” & European Reference Network ERN CRANIO, Strasbourg 67000, France

Marzena Kawczynski

Reference Center for Rare Oral and Dental Diseases (CRMR-O-Rares), Oral Medicine and Surgery Department, Hôpitaux Universitaires de Strasbourg (HUS), Strasbourg 67000, France; Rare Diseases Health Network “TETE COU” & European Reference Network ERN CRANIO, Strasbourg 67000, France

Naji Kharouf

Faculty of Dentistry, Université de Strasbourg, Strasbourg 67000, France; Biomaterials and Bioengineering Laboratory, Inserm UMR_S 1121, Strasbourg 67000, France

Marie-Cécile Manière

Faculty of Dentistry, Université de Strasbourg, Strasbourg 67000, France; Reference Center for Rare Oral and Dental Diseases (CRMR-O-Rares), Oral Medicine and Surgery Department, Hôpitaux Universitaires de Strasbourg (HUS), Strasbourg 67000, France; Rare Diseases Health Network “TETE COU” & European Reference Network ERN CRANIO, Strasbourg 67000, France

Yann Herault

Institute of Genetics and Molecular and Cellular Biology (IGBMC), CNRS- UMR7104, INSERM U1258, Université de Strasbourg, Illkirch 67400, France

Agnès Bloch-Zupan

Institute of Genetics and Molecular and Cellular Biology (IGBMC), CNRS- UMR7104, INSERM U1258, Université de Strasbourg, Illkirch 67400, France; Faculty of Dentistry, Université de Strasbourg, Strasbourg 67000, France; Institute of Advanced Studies (USIAS), Université de Strasbourg, Strasbourg 67045, France; Reference Center for Rare Oral and Dental Diseases (CRMR-O-Rares), Oral Medicine and Surgery Department, Hôpitaux Universitaires de Strasbourg (HUS), Strasbourg 67000, France; Rare Diseases Health Network “TETE COU” & European Reference Network ERN CRANIO, Strasbourg 67000, France; Corresponding author. Hôpitaux Universitaires de Strasbourg, 1 Place de L’Hôpital, Strasbourg 67000, France.

Virginie Haushalter-Laugel

Institute of Genetics and Molecular and Cellular Biology (IGBMC), CNRS- UMR7104, INSERM U1258, Université de Strasbourg, Illkirch 67400, France; Faculty of Dentistry, Université de Strasbourg, Strasbourg 67000, France; Reference Center for Rare Oral and Dental Diseases (CRMR-O-Rares), Oral Medicine and Surgery Department, Hôpitaux Universitaires de Strasbourg (HUS), Strasbourg 67000, France; “Institut de Génétique Médicale d'Alsace”, Laboratory of Genetic Diagnostic, Hôpitaux Universitaires de Strasbourg (HUS), Strasbourg 67000, France