Rare dentin defects:Understanding the pathophysiological mechanisms of COLXVA1 mutations  

作　　者：Isaac Maximiliano Bugueno Tristan Rey Alexandra Jimenez-Armijo Marzena Kawczynski Naji Kharouf Marie-Cecile Maniere Yann Herault Agnes Bloch-Zupan Virginie HaushalterLaugel 

机构地区：[1]Institute of Genetics and Molecular and Cellular Biology(IGBMC),CNRS-UMR7104,INSERM U1258,Universitede Strasbourg,Illkirch 67400,France [2]Faculty of Dentistry,Universitede Strasbourg,Strasbourg 67000,France [3]Institute of Advanced Studies(USIAS),Universitede Strasbourg,Strasbourg 67045,France [4]Reference Center for Rare Oral and Dental Diseases(CRMR-O-Rares),Oral Medicine and Surgery Department,Hopitaux Universitaires de Strasbourg(HUS),Strasbourg 67000,France [5]Rare Diseases Health Network“TETE COU”&European Reference Network ERN CRANIO,Strasbourg 67000,France [6]“Institut de Genetique Medicale d’Alsace”,Laboratory of Genetic Diagnostic,Hopitaux Universitaires de Strasbourg(HUS),Strasbourg 67000,France [7]Biomaterials and Bioengineering Laboratory,Inserm UMR_S 1121,Strasbourg 67000,France [8]Orofacial Development and Regeneration,Faculty of Medicine,Institute of Oral Biology,Centre of Dental Medicine,University of Zurich,Zurich 8032,Switzerland

出　　处：《Genes & Diseases》2024年第5期1-5,共5页基因与疾病（英文）

基　　金：the actions of the projects Offensives Sciences INTERREG IV A27 and“RARENET:No.1.7,a trinational network for education,research and management of complex and rare disorders in the Upper Rhine”co-financed by the European Regional Development Fund(ERDF)of the European Union in the framework of the INTERREG V Upper Rhine program as well as to the ERN(European reference network)CRANIO initiative.ABZ is a USIAS 2015 Fellow of the Institute of Advanced Studies(Institut d’Etudes Avancees)de l’Universite´de Strasbourg,France.It was also supported by the grant ANR10-LABX-0030-INRT,a French State fund managed by the Agence Nationale de la Recherche under the frame programme Investissements d’Avenir labelled ANR-10-IDEX0002-02.;the Projet E-GENODENT financed by the Fonds d’Intervention Re´gionale(FIR)of the Agence Re´gionale de Sante´Grand Est(2019-2022);the“Impulsion Recherche”financial support of the“Filie`re de Sante´Maladies Rares TETECOU”2021 and 2022 and acknowledge the Fondation Force for supporting the DIAGNODENT project(2023-2026);the study design,data collection and analysis,decision to publish,or preparation of the manuscript.

摘　　要：Dentin is a mineralized tissue with a chemical composition similar to bone but with a higher mineralized density and rigidity.It constitutes the central structure of the tooth between the internal pulp and external enamel toward the oral cavity or cementum toward the underlying roots.Inherited dentin defects occur in a variety of rare genetic diseases.They can manifest as“isolated”occurrences such as in dentinogenesis imperfecta(DI)or dentin dysplasia(DD)or can be associated with other symptoms in diseases such as osteogenesis imperfecta,Goldblatt syndrome,microcephalic osteodysplastic primordial dwarfism type Ⅱ,among others.

关 键 词：diseases DEN RIGIDITY 

分 类 号：R363[医药卫生—病理学]