Searchable abstracts of presentations at key conferences on calcified tissues

ba0005oc6.1 | Development and differentiation (or Aging) | ECTS2016

Analyses of structural and functional impact of three FGFR3 mutations localized at position K650 leading to both mild and lethal dwarfism

Ebri Davide Komla , Dambroise Emilie , Benoist-Lasselin Catherine , Kaci Nabil , Barbault Florent , Legeai-Mallet Laurence

The fibroblast growth factor receptor 3 (FGFR3) activation leads to dwarfism with a spectrum of severity, hypochondroplasia (HCH), severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN), and thanatophoric dysplasia (TD). Interestingly, FGFR3 mutations localized at the same position in the tyrosine kinase domain are responsible for HCH (p. Lys650Asn), SADDAN (p. Lys650Met) and TD (p. Lys650Glu).The mechanisms of FGFR3 activation ...

ba0003pp185 | Chondrocytes and cartilage | ECTS2014

Disturbed cartilages of the mandible in achondroplasia are associated with defective mandible shape and position

Duplan Martin Biosse , Di Rocco Federico , Heuze Yann , Gaudas Emilie , Komla-Ebri Davide , Kaci Nabil , Benoist-Lasselin Catherine , Legeai-Mallet Laurence

FGFR3 activating mutations are responsible for achondroplasia (ACH), the most common form of dwarfism. ACH clinical features include short stature, midface hypoplasia, frontal bossing and prognathism and both endochondral and membranous ossifications are disturbed. It is unknown if abnormal mandibles are present in ACH. To date, it is believed that primary (Meckel’s) and secondary (angular and condylar) cartilages play important roles in determining the final shape and po...