used transpose-mediated transgenesis to attempt to stably express wild-type and mutant forms of human PTDSS1 ubiquitously or specifically in chondrocytes osteoblasts or osteoclasts in zebrafish
we report here three patients with LMS and heterozygous mutations in PTDSS1. We describe an adult phenotype and two novel PTDSS1 mutations. We suggest that LMS should be considered in the differential diagnosis of a newborn with CL.
PSS1 mutations not only affect cellular PS levels and distribution but also lead to a more complex imbalance in lipid homeostasis by disturbing PI4P metabolism.
RYR2 PTDSS1 and AREG are autism susceptibility genes that are implicated in a Lebanese population-based study of copy number variations in this disease.
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