Publications by authors named "A E Antipenko"

Article Synopsis
  • - The study investigates isolated congenital asplenia (ICA), a rare condition affecting the lymphoid organ, linked to mutations in the ribosomal protein SA gene, with a significant number of cases showing a connection to protein-coding mutations and some affecting mRNA splicing.
  • - New research identified 11 additional mutations in the ribosomal protein SA gene and revealed that a majority of the studied kindreds (41%) and over half of patients (55%) have mutations that can lead to ICA.
  • - Notably, the study highlights the variable expressiveness of these mutations, with some demonstrating incomplete penetrance, suggesting that not all individuals with mutations will develop symptoms of ICA.
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We compared whole-exome sequencing (WES) and whole-genome sequencing (WGS) in six unrelated individuals. In the regions targeted by WES capture (81.5% of the consensus coding genome), the mean numbers of single-nucleotide variants (SNVs) and small insertions/deletions (indels) detected per sample were 84,192 and 13,325, respectively, for WES, and 84,968 and 12,702, respectively, for WGS.

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Netrins are secreted proteins that regulate axon guidance and neuronal migration. Deleted in colorectal cancer (DCC) is a well-established netrin-1 receptor mediating attractive responses. We provide evidence that its close relative neogenin is also a functional netrin-1 receptor that acts with DCC to mediate guidance in vivo.

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Recovery from stroke is limited, in part, by an inhibitory environment in the postischemic brain, but factors preventing successful remodeling are not well known. Using cultured cortical neurons from mice, brain endothelial cells, and a mouse model of ischemic stroke, we show that signaling from the axon guidance molecule Sema3A via eicosanoid second messengers can contribute to this inhibitory environment. Either 90 nM recombinant Sema3A, or the 12/15-lipoxygenase (12/15-LOX) metabolites 12-HETE and 12-HPETE at 300 nM, block axon extension in neurons compared to solvent controls, and decrease tube formation in endothelial cells.

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