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 …

Genetic basis and therapies for vascular anomalies

A Queisser, E Seront, LM Boon, M Vikkula - Circulation research, 2021 - Am Heart Assoc
Vascular and lymphatic malformations represent a challenge for clinicians. The identification
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 …

Lymphatic malformations: genetics, mechanisms and therapeutic strategies

T Mäkinen, LM Boon, M Vikkula, K Alitalo - Circulation research, 2021 - Am Heart Assoc
Lymphatic vessels maintain tissue fluid homeostasis by returning to blood circulation
interstitial fluid that has extravasated from the blood capillaries. They provide a trafficking …

PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism

AA Ren, DA Snellings, YS Su, CC Hong, M Castro… - Nature, 2021 - nature.com
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 …

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 …

[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 …

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 …

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 …

New insights into the generation and role of de novo mutations in health and disease

R Acuna-Hidalgo, JA Veltman, A Hoischen - Genome biology, 2016 - Springer
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 …