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Objective
Mutations in the genes encoding neuronal ion channels are a common cause of Mendelian neurological diseases. We sought to identify novel de novo sequence variants in cases with early infantile epileptic phenotypes and neurodevelopmental anomalies.
Methods
Following clinical diagnosis, we performed whole exome sequencing of the index cases and their parents. Identified channel variants...
Microphthalmia, coloboma, and aniridia are congenital ocular phenotypes with a strong genetic component but often unknown cause. We present a likely causative novel variant in MAB21L1, c.152G>T p.(Arg51Leu), in two family members with microphthalmia and aniridia, as well as novel or rare compound heterozygous variants of uncertain significance, c.184C>T p.(Arg62Cys)/c.‐68T>C, and c.658G>C...
Mechanical load plays a significant role in bone and growth-plate development. Chondrocytes sense and respond to mechanical stimulation; however, the mechanisms by which those signals exert their effects are not fully understood. The primary cilium has been identified as a mechano-sensor in several cell types, including renal epithelial cells and endothelium, and accumulating evidence connects it...
The relationship between load and the structure and mechanical properties of mature bones has been thoroughly described. In contrast, this relationship has been studied much less in immature bones, which consist of bony tissue and cartilaginous growth plate, during the postnatal period. This paper describes the effect of an externally applied load on the bones of young fast-growing chicks; in particular,...
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