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 …

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 …

[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 …

The RASopathies: from pathogenetics to therapeutics

KE Hebron, ER Hernandez… - Disease models & …, 2022 - journals.biologists.com
The RASopathies are a group of disorders caused by a germline mutation in one of the
genes encoding a component of the RAS/MAPK pathway. These disorders, including …

Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations

S Zhao, KY Mekbib, MA van der Ent, G Allington… - Nature …, 2023 - nature.com
To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common
and most severe of congenital brain arteriovenous malformations, we performed an …

Childhood stroke

PB Sporns, HJ Fullerton, S Lee, H Kim, WD Lo… - Nature Reviews …, 2022 - nature.com
Stroke is an important cause of neurological morbidity in children; most survivors have
permanent neurological deficits that affect the remainder of their life. Stroke in childhood, the …

Vascular endothelial cell specification in health and disease

C Marziano, G Genet, KK Hirschi - Angiogenesis, 2021 - Springer
There are two vascular networks in mammals that coordinately function as the main supply
and drainage systems of the body. The blood vasculature carries oxygen, nutrients …

Arteriovenous malformations—current understanding of the pathogenesis with implications for treatment

K Schimmel, MK Ali, SY Tan, J Teng, HM Do… - International Journal of …, 2021 - mdpi.com
Arteriovenous malformations are a vascular anomaly typically present at birth, characterized
by an abnormal connection between an artery and a vein (bypassing the capillaries). These …

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

L Al-Olabi, S Polubothu, K Dowsett… - The Journal of …, 2018 - Am Soc Clin Investig
BACKGROUND. Sporadic vascular malformations (VMs) are complex congenital anomalies
of blood vessels that lead to stroke, life-threatening bleeds, disfigurement, overgrowth …

Updates on sturge-weber syndrome

SE Yeom, AM Comi - Stroke, 2022 - Am Heart Assoc
Sturge-Weber syndrome (SWS) is a rare, noninherited neurovascular disorder characterized
by abnormal vasculature in the brain, skin, and eye. Patients with SWS characteristically …