6 research outputs found
Syndrome de Bardet-Biedl: cils et obésité - de la génétique aux approches intégratives. [Bardet-Biedl syndrome: cilia and obesity - from genes to integrative approaches]:
No full textThe primary cilium is a specialized organelle, present at the surface of most eukaryotic cells, whose main function is to detect, integrate and transmit intra- and extra-cellular signals. Its dysfunction usually results in a group of severe clinical manifestations nowadays termed ciliopathies. The latter can be of syndromic nature with multi-organ dysfunctions and can also be associated with a morbid obese phenotype, like it is the case in the iconic ciliopathy, the Bardet Biedl syndrome (BBS). This review will discuss the contribution of the unique context offered by the emblematic BBS for understanding the mechanisms leading to obesity via the involvement of the primary cilium together with identification of novel molecular players and signaling pathways it has helped to highlight. In the current context of translational medicine and system biology, this article will also discuss the potential benefits and challenges posed by these techniques via multi-level approaches to better dissect the underlying mechanisms leading to the complex condition of obesity
MYO-xIA : Quantification de marqueurs pathologiques sur coupes histologiques et exploitation de rapport de biopsie par intelligence artificielle explicative pour le diagnostic de myopathies congénitales
No full textInternational audienc
