AnalyzeDirect Huckert M, Stoetzel C, Morkmued S, Laugel-Haushalter V, Geoffroy V, Muller J, Clauss F, Prasad MK, Obry F, Raymond JL, Switala M, Alembik Y, Soskin S, Mathieu E, Hemmerlé J, Weickert JL, Dabovic B, Rifkin DB, Dheedene A, Boudin E, Caluseriu O, Cholette MC, McLeod R, Antequera R, Gellé MP, Coeuriot JL, Jacquelin LF, Bailleul-Forestier I, Manière MC, Van Hul W, Bertola D, Dollé P, Verloes A, Mortier G, Dollfus H, Bloch-Zupan A. Mutations in the Latent TGF-beta Binding Protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. Hum Mol Genet. February 2015.
Full Text – Open Access
Publication Date
February 2015
How Analyze was Used
“3D data reconstructions were performed using Analyze software (v 11.0).”
Keywords
Amelogenesis Imperfecta
Bone and Bones/abnormalities
Brachyolmia
Disease Models, Animal
Gene Expression
Genetic Diseases, Inborn
Humans
Latent TGF-beta Binding Protein 3
Ltbp3 protein, mouse
Mice
Mice, Knockout
Mice, Mutant Strains
Phenotype
Tooth Diseases
Tomography, X-Ray Computed
Author Affiliation(s)
Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, Université de Strasbourg, 11 rue Humann, 67000 Strasbourg, France. (MH, CS, VG, MKP, HD)
Reference Centre for Orodental Manifestations of Rare Diseases, CRMR, Pôle de Médecine et Chirurgie Bucco-Dentaires, Hôpitaux Universitaires de Strasbourg (HUS), 67000 Strasbourg, France. (MH, FC, FO, MS, MCM, ABZ)
Faculty of Dentistry, University of Strasbourg, 1 place de l’Hôpital, 67000 Strasbourg, France. (MH, SM, FC, FO, JLR, MS, MCM, ABZ)
Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CERBM, Université de Strasbourg, INSERM U 964, CNRS UMR 7104, 1 rue Laurent Fries,nBP 10142, 67404 Illkirch, France. (SM, VLH, JM, JLW, PD, ABZ)
Faculty of Dentistry, Khon Kaen University, Thailand. (SM)
Laboratoire ICube UMR 7357, UdS, CNRS, LBGI, Université de Strasbourg, France. (JM)
Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67091 Strasbourg, France. (JM)
Osteoarticular and Dental Regenerative NanoMedicine, Inserm UMR 1109, Strasbourg, 67000 France. (FC)
Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France. (YA, HD)
Service de Pédiatrie 1, Endocrinologie pédiatrique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France. (SS)
Biomaterials and Bioengineering, Inserm UMR 1121, 11 rue Humann, 67000 Strasbourg, France. (EM, JH)
Department of Cell Biology, NYU Langone Medical Centre, New York, US. (BD, DBR)
Center for Medical Genetics, Ghent University, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium. (AD, GM)
Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, Prins Boudewijnlaan 43, 2650 Edegem, Belgium. (EB, WVH, GM)
Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Calgary, Alberta Children’s Hospital, Calgary AB, Canada. (OC, MCC, RL)
Dentistry Division, HC/FMUSP, São Paulo, Brazil. (RA)
Faculté d’Odontologie, Université de Reims Champagne-Ardenne, 2 rue du Général Koenig, 51100 Reims, France. (MPG, JLC, LFJ)
Laboratoire EA 4691 “BIOS”, 1, rue du Maréchal Juin, 51100 Reims, France. (MPG)
Faculty of Dentistry, Paul Sabatier University, LU51, Pôle Odontologie, Hôpitaux de Toulouse, 3 chemin des maraîchers, Toulouse, France. (IBF)
Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo – Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil. (DB)
Département de Génétique – Hôpital Robert Debré, CRMR “Anomalies du Développement & Syndromes Malformatifs”, CRMR “Déficiences intellectuelles de causes rares”, 48 bd Sérurier, 75019 Paris, France. (AV)
ID# 1751
Tags: Amelogenesis Imperfecta, Animal Disease Models, Bone and Bones/abnormalities, Brachyolmia, Gene Expression, Humans, Inborn Genetic Diseases, Knockout Mice, LTBP3 protein_human, Ltbp3 protein_mouse, Mice, Mutant Strains Mice, Phenotype, Tooth Diseases, X-Ray Computed Tomography