Products/Services Used | Details | Operation |
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Mutagenesis Services | … each of six patient variants, which were made by site-directed mutagenesis (Genscript). Plasmids were confirmed to have the correct insert via validation of Sanger sequencing provided by Genscript. Plasmids were transformed into TOP10 competent cells and grown on an LB-… | Get A Quote |
Primary ciliopathies are heterogenous disorders resulting from perturbations in primary cilia form and/or function. Primary cilia are cellular organelles which mediate key signaling pathways during development, such as the sonic hedgehog (SHH) pathway which is required for neuroepithelium and central nervous system development. Joubert syndrome is a primary ciliopathy characterized by cerebellar/brain stem malformation, hypotonia, and developmental delays. At least 35 genes are associated with Joubert syndrome, including the gene KIAA0753, which is part of a complex required for primary ciliogenesis. The phenotypic spectrum associated with biallelic pathogenic variants in KIAA0753 is broad and not well-characte... More