Sha** 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 - ahajournals.org
Vascular and lymphatic malformations represent a challenge for clinicians. The identification
of inherited and somatic mutations in important signaling pathways, including the PI3K …

Vascular anomalies classification: recommendations from the International Society for the Study of Vascular Anomalies

M Wassef, F Blei, D Adams, A Alomari, E Baselga… - …, 2015‏ - publications.aap.org
Vascular anomalies represent a spectrum of disorders from a simple “birthmark” to life-
threatening entities. Incorrect nomenclature and misdiagnoses are commonly experienced …

Lymphatic system in cardiovascular medicine

A Aspelund, MR Robciuc, S Karaman… - Circulation …, 2016‏ - ahajournals.org
The mammalian circulatory system comprises both the cardiovascular system and the
lymphatic system. In contrast to the blood vascular circulation, the lymphatic system forms a …

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 …

Recent advances in RASopathies

Y Aoki, T Niihori, S Inoue, Y Matsubara - Journal of human genetics, 2016‏ - nature.com
RASopathies or RAS/mitogen-activated protein kinase (MAPK) syndromes are a group of
phenotypically overlap** syndromes caused by germline mutations that encode …

Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK …

M Amyere, N Revencu, R Helaers, E Pairet, E Baselga… - Circulation, 2017‏ - ahajournals.org
Background: Most arteriovenous malformations (AVMs) are localized and occur
sporadically. However, they also can be multifocal in autosomal-dominant disorders, such …

Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era

J McDonald, W Wooderchak-Donahue… - Frontiers in …, 2015‏ - frontiersin.org
Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia characterized by
telangiectases and arteriovenous malformations (AVMs) in particular locations described in …

Genetics of lymphatic anomalies

P Brouillard, L Boon, M Vikkula - The Journal of clinical investigation, 2014‏ - jci.org
Lymphatic anomalies include a variety of developmental and/or functional defects affecting
the lymphatic vessels: sporadic and familial forms of primary lymphedema, secondary …

[PDF][PDF] Central conducting lymphatic anomaly: from bench to bedside

LD Garlisi Torales, BA Sempowski, GL Krikorian… - Journal of Clinical …, 2024‏ - jci.org
Central conducting lymphatic anomaly (CCLA) is a complex lymphatic anomaly
characterized by abnormalities of the central lymphatics and may present with nonimmune …