Publications by authors named "H P Kozakewich"
Intravital Imaging of Disease Mechanisms in a Mouse Model of CCM Skin Lesions-Brief Report.
Arterioscler Thromb Vasc Biol
January 2025
Background: Cerebral cavernous malformation (CCM) is a disease characterized by vascular malformations that primarily develop in the brain. These malformations are prone to leak, and their rupture or thrombotic closure can cause life-threatening hemorrhages and strokes. Mouse models have been instrumental to study the disease, but most cause premature lethality, precluding the investigation of disease mechanisms through intravital microscopy.
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- * Research has shown that the GNAQ p.R183Q variant leads to the formation of abnormal blood vessels in both brain and skin tissues, revealing distinct morphological and functional characteristics of these vessels.
- * CM vessels are enlarged with signs of leakage and immune cell involvement, but show differences in sprouting activity and mural cell localization between brain and skin, which may aid in developing specific therapies for CM.
Introduction: We describe an abnormality in fetal and neonatal vertebral bodies whose most conspicuous characteristic is an increase in cartilaginous matrix within cancellous osseous trabeculae. We have termed this finding fetal chondrostasis (FC).
Methods: We initiated a retrospective review of autopsy reports in which this condition had been prospectively diagnosed during a 36-year period.
Article Synopsis
- Infantile hemangioma (IH) is the most common tumor in children, primarily treated with propranolol, which affects blood vessel formation through a specific mechanism involving a protein called SOX18.
- Recent research identified the mevalonate pathway (MVP) as a target of propranolol, highlighting its role in the formation of hemangiomas and confirming this through studies on stem cells from hemangiomas.
- The study suggests that statins, which also target the MVP, could be repurposed to treat IH, revealing a new regulatory axis (SOX18-MVP) that may influence other conditions related to abnormal blood vessel growth.
Capillary malformations (CM) are congenital vascular irregularities of capillary and venous blood vessels that appear in the skin, leptomeninges of the brain, and the choroid of the eye in the disorder known as Sturge Weber Syndrome (SWS). More common are non-syndromic CM found only in the skin, without brain or ocular involvement. A somatic activating mutation in (p.
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