Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta

Autor: Barbara Gasse, Megana Prasad, Sidney Delgado, Mathilde Huckert, Marzena Kawczynski, Annelyse Garret-Bernardin, Serena Lopez-Cazaux, Isabelle Bailleul-Forestier, Marie-Cécile Manière, Corinne Stoetzel, Agnès Bloch-Zupan, Jean-Yves Sire

Publikováno v: Frontiers in Physiology, Vol 8 (2017)

Amelogenesis imperfecta (AI) designates a group of genetic diseases characterized by a large range of enamel disorders causing important social and health problems. These defects can result from mutations in enamel matrix proteins or protease encodin

Externí odkaz: https://doaj.org/article/0c8261a65e9a4f12a7297875c49457f8

Common SNPs of AmelogeninX (AMELX) and Dental Caries Susceptibility

Autor: Adrien Boillot, E. Moulis, F. Vaysse, O. Laboux, S. Grabar, S. Opsahl Vital, Dominique Droz, Frédéric Courson, J.-Y. Sire, T. Davit-Béal, Anne Gaelle Lafont, J.M. Treluyer, Nawfal Al-Hashimi, Martine Hennequin, Catherine Chaussain, O. Chabadel, Barbara Gasse, Hervé Tassery, J.C. Carel, M. Jeanpierre, C. Beldjord, L. Quinquis

Publikováno v: Journal of Dental Research
Journal of Dental Research, 2013, 92 (5), pp.418-424. ⟨10.1177/0022034513482941⟩
Journal of Dental Research, SAGE Publications (UK and US), 2013, 92 (5), pp.418-424. ⟨10.1177/0022034513482941⟩

International audience; Genetic approaches have shown that several genes could modify caries susceptibility; AmelogeninX (AMELX) has been repeatedly designated. Here, we hypothesized that AMELX mutations resulting in discrete changes of enamel micros

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d83417579adcf80fff8da9d33ca6afe6
https://doi.org/10.1177/0022034513482941

Evolutionary analysis of selective constraints identifies ameloblastin (AMBN) as a potential candidate for amelogenesis imperfecta

Autor: Jean-Yves Sire, Frédéric Delsuc, Barbara Gasse

Publikováno v: BMC Evolutionary Biology
BMC Evolutionary Biology, 2015, 15, pp.148. ⟨10.1186/s12862-015-0431-0⟩
BMC Evolutionary Biology, BioMed Central, 2015, 15, pp.148. ⟨10.1186/s12862-015-0431-0⟩

Background Ameloblastin (AMBN) is a phosphorylated, proline/glutamine-rich protein secreted during enamel formation. Previous studies have revealed that this enamel matrix protein was present early in vertebrate evolution and certainly plays importan

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb7561c353b53b6b3efc7a4dc18ed762
https://hal.sorbonne-universite.fr/hal-01212816/file/s12862-015-0431-0.pdf

Molecular Evolution of the Tissue-nonspecific Alkaline Phosphatase Allows Prediction and Validation of Missense Mutations Responsible for Hypophosphatasia

Autor: Barbara Gasse, Jérémie Silvent, Etienne Mornet, Jean-Yves Sire

Publikováno v: Journal of Biological Chemistry
Journal of Biological Chemistry, American Society for Biochemistry and Molecular Biology, 2014, 289 (35), pp.24168-24179. ⟨10.1074/jbc.M114.576843⟩
Journal of Biological Chemistry, 2014, 289 (35), pp.24168-24179. ⟨10.1074/jbc.M114.576843⟩

International audience; Background: We used evolutionary analysis of alkaline phosphatase (tissue nonspecific alkaline phosphatase, TNSALP) to predict missense mutations leading to hypophosphatasia. Results: We found 469 sensitive positions and valid

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d82bb40e0587a49bdf3e282aedff010
https://hal.archives-ouvertes.fr/hal-01545479

Dental caries and enamelin haplotype

Autor: S. Opsahl Vital, Hervé Tassery, J.-Y. Sire, T. Davit-Béal, Frédéric Courson, A.G. Laffont, Catherine Chaussain, O. Chabadel, O. Laboux, C. Beldjord, E. Moulis, D. Droz, Alexandre Alcaïs, Barbara Gasse, J.M. Treluyer, J.C. Carel, Martine Hennequin, F. Vaysse, N. Bouazza

Publikováno v: Journal of Dental Research
Journal of Dental Research, 2014, 93 (4), pp.360-365. ⟨10.1177/0022034514522060⟩
Journal of Dental Research, SAGE Publications (UK and US), 2014, 93 (4), pp.360-365. ⟨10.1177/0022034514522060⟩

International audience; In the literature, the enamelin gene ENAM has been repeatedly designated as a possible candidate for caries susceptibility. Here, we checked whether ENAM variants could increase caries susceptibility. To this aim, we sequenced

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d6e4293e455dd4d6a2eecb318d23797
https://pubmed.ncbi.nlm.nih.gov/24487377