PI3K isoforms in cell signalling and vesicle trafficking
B Bilanges, Y Posor, B Vanhaesebroeck - Nature reviews Molecular …, 2019 - nature.com
PI3Ks are a family of lipid kinases that phosphorylate intracellular inositol lipids to regulate
signalling and intracellular vesicular traffic. Mammals have eight isoforms of PI3K, divided …
signalling and intracellular vesicular traffic. Mammals have eight isoforms of PI3K, divided …
Genetic basis and therapies for vascular anomalies
Vascular and lymphatic malformations represent a challenge for clinicians. The identification
of inherited and somatic mutations in important signaling pathways, including the PI3K …
of inherited and somatic mutations in important signaling pathways, including the PI3K …
Shaping the brain vasculature in development and disease in the single-cell era
T Wälchli, J Bisschop, P Carmeliet, G Zadeh… - Nature Reviews …, 2023 - nature.com
The CNS critically relies on the formation and proper function of its vasculature during
development, adult homeostasis and disease. Angiogenesis—the formation of new blood …
development, adult homeostasis and disease. Angiogenesis—the formation of new blood …
Lymphatic malformations: genetics, mechanisms and therapeutic strategies
Lymphatic vessels maintain tissue fluid homeostasis by returning to blood circulation
interstitial fluid that has extravasated from the blood capillaries. They provide a trafficking …
interstitial fluid that has extravasated from the blood capillaries. They provide a trafficking …
PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism
Vascular malformations are thought to be monogenic disorders that result in dysregulated
growth of blood vessels. In the brain, cerebral cavernous malformations (CCMs) arise owing …
growth of blood vessels. In the brain, cerebral cavernous malformations (CCMs) arise owing …
Vascular heterogeneity and specialization in development and disease
M Potente, T Mäkinen - Nature Reviews Molecular Cell Biology, 2017 - nature.com
Blood and lymphatic vessels pervade almost all body tissues and have numerous essential
roles in physiology and disease. The inner lining of these networks is formed by a single …
roles in physiology and disease. The inner lining of these networks is formed by a single …
[HTML][HTML] Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain
SI Nikolaev, S Vetiska, X Bonilla… - … England Journal of …, 2018 - Mass Medical Soc
Background Sporadic arteriovenous malformations of the brain, which are morphologically
abnormal connections between arteries and veins in the brain vasculature, are a leading …
abnormal connections between arteries and veins in the brain vasculature, are a leading …
Therapeutic targeting of the angiopoietin–TIE pathway
P Saharinen, L Eklund, K Alitalo - Nature Reviews Drug Discovery, 2017 - nature.com
The endothelial angiopoietin (ANG)–TIE growth factor receptor pathway regulates vascular
permeability and pathological vascular remodelling during inflammation, tumour …
permeability and pathological vascular remodelling during inflammation, tumour …
Cerebral cavernous malformation: from mechanism to therapy
DA Snellings, CC Hong, AA Ren… - Circulation …, 2021 - Am Heart Assoc
Cerebral cavernous malformations are acquired vascular anomalies that constitute a
common cause of central nervous system hemorrhage and stroke. The past 2 decades have …
common cause of central nervous system hemorrhage and stroke. The past 2 decades have …
New insights into the generation and role of de novo mutations in health and disease
Aside from inheriting half of the genome of each of our parents, we are born with a small
number of novel mutations that occurred during gametogenesis and postzygotically. Recent …
number of novel mutations that occurred during gametogenesis and postzygotically. Recent …