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 …

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 …

Identification of 64 novel genetic loci provides an expanded view on the genetic architecture of coronary artery disease

P Van Der Harst, N Verweij - Circulation research, 2018 - Am Heart Assoc
Rationale: Coronary artery disease (CAD) is a complex phenotype driven by genetic and
environmental factors. Ninety-seven genetic risk loci have been identified to date, but the …

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 …

Management of stroke in infants and children: a scientific statement from a Special Writing Group of the American Heart Association Stroke Council and the Council on …

ES Roach, MR Golomb, R Adams, J Biller, S Daniels… - Stroke, 2008 - Am Heart Assoc
Purpose—The purpose of this statement is to review the literature on childhood stroke and to
provide recommendations for optimal diagnosis and treatment. This statement is intended …

Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations

F Bergametti, C Denier, P Labauge, M Arnoult… - The American Journal of …, 2005 - cell.com
Cerebral cavernous malformations (CCMs) are hamartomatous vascular malformations
characterized by abnormally enlarged capillary cavities without intervening brain …

Targeting Robo4-dependent Slit signaling to survive the cytokine storm in sepsis and influenza

NR London, W Zhu, FA Bozza, MCP Smith… - Science translational …, 2010 - science.org
The innate immune system provides a first line of defense against invading pathogens by
releasing multiple inflammatory cytokines, such as interleukin-1β and tumor necrosis factor …

Cavernous malformations: natural history, diagnosis and treatment

S Batra, D Lin, PF Recinos, J Zhang… - Nature Reviews …, 2009 - nature.com
Cavernous malformations (CMs) consist of dilated vascular channels that have a
characteristic appearance on MRI. CMs are usually found intracranially, although such …

Somatic MAP3K3 and PIK3CA mutations in sporadic cerebral and spinal cord cavernous malformations

T Hong, X **ao, J Ren, B Cui, Y Zong, J Zou, Z Kou… - Brain, 2021 - academic.oup.com
Cavernous malformations affecting the CNS occur in∼ 0.16–0.4% of the general population.
The majority (85%) of cavernous malformations are in a sporadic form, but the genetic …

Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity

RA Stockton, R Shenkar, IA Awad… - Journal of Experimental …, 2010 - rupress.org
Endothelial cell–cell junctions regulate vascular permeability, vasculogenesis, and
angiogenesis. Familial cerebral cavernous malformations (CCMs) in humans result from …