Miikka Vikkula

TL;DR: It is reported that LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass accrual during growth and is important for the establishment of peak bone mass.

TL;DR: The updated official ISSVA classification of vascular anomalies is presented, acknowledging that it will require modification as new scientific information becomes available.

TL;DR: It is concluded that an activating mutation in TIE2 causes inherited VMs in the two families and that the TIE1 signaling pathway is critical for endothelial cell-smooth muscle cell communication in venous morphogenesis.

TL;DR: In this article, a new array-based method allowed screening of genome-wide copy number and loss of heterozygosity in single cells, which revealed not only mosaicism for whole-chromosome aneuploidies and uniparental disomies in most cleavage-stage embryos but also frequent segmental deletions, duplications and amplifications that were reciprocal in sister blastomeres, implying the occurrence of breakage-fusion-bridge cycles.

TL;DR: A newly identified association caused by RASA1 mutations is named "CM-AVM," for capillary malformation-arteriovenous malformation, which can be explained by the involvement of p120-RasGAP in signaling for various growth factor receptors that control proliferation, migration, and survival of several cell types, including vascular endothelial cells.