Polygenic mutations in the cytotoxicity pathway increase susceptibility to develop HLH immunopathology in mice
Published in Arthritis & Rheumatism
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome......
Published in Neurobiology of Disease
KIAA0586, the human ortholog of chicken TALPID3, is a centrosomal protein that is essential for primary ciliogenesis. Its disruption in animal models causes defects attributed to abnormal hedgehog signaling; these defects include polydactyly and abnormal dorsoventral patterning of the neural tube. Here, we report homozygous mutations of KIAA0586 in...
Responsable de la plate-forme
Cell Imaging Platform; SFR-Necker; UMR_S 1163, IHU IMAGINE, Institut des maladies génétiques