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 …
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 …
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 …
provide recommendations for optimal diagnosis and treatment. This statement is intended …
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 …
and drainage systems of the body. The blood vasculature carries oxygen, nutrients …
Venous malformation: update on aetiopathogenesis, diagnosis and management
The aim of this review was to discuss the current knowledge on aetiopathogenesis,
diagnosis and therapeutic management of venous malformations (VMs). VMs are slow-flow …
diagnosis and therapeutic management of venous malformations (VMs). VMs are slow-flow …
A PP2A phosphatase high density interaction network identifies a novel striatin-interacting phosphatase and kinase complex linked to the cerebral cavernous …
M Goudreault, LM D'Ambrosio, MJ Kean… - Molecular & Cellular …, 2009 - ASBMB
The serine/threonine protein phosphatases are targeted to specific subcellular locations and
substrates in part via interactions with a wide variety of regulatory proteins. Understanding …
substrates in part via interactions with a wide variety of regulatory proteins. Understanding …
Genetics of cavernous angiomas
P Labauge, C Denier, F Bergametti… - The Lancet …, 2007 - thelancet.com
Cerebral cavernous malformations (CCM) are vascular malformations that can occur as a
sporadic or a familial autosomal dominant disorder. Clinical and cerebral MRI data on large …
sporadic or a familial autosomal dominant disorder. Clinical and cerebral MRI data on large …
Genetic causes of vascular malformations
P Brouillard, M Vikkula - Human molecular genetics, 2007 - academic.oup.com
Vascular malformations are localized defects of vascular development. They usually affect a
limited number of vessels in a restricted area of the body. Although most malformations are …
limited number of vessels in a restricted area of the body. Although most malformations are …
Regulation of cardiovascular development and integrity by the heart of glass–cerebral cavernous malformation protein pathway
B Kleaveland, X Zheng, JJ Liu, Y Blum, JJ Tung… - Nature medicine, 2009 - nature.com
Cerebral cavernous malformations (CCMs) are human vascular malformations caused by
mutations in three genes of unknown function: KRIT1, CCM2 and PDCD10. Here we show …
mutations in three genes of unknown function: KRIT1, CCM2 and PDCD10. Here we show …
A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells
A Pagenstecher, S Stahl, U Sure… - Human molecular …, 2009 - academic.oup.com
Cavernous vascular malformations occur with a frequency of 1: 200 and can cause recurrent
headaches, seizures and hemorrhagic stroke if located in the brain. Familial cerebral …
headaches, seizures and hemorrhagic stroke if located in the brain. Familial cerebral …
Stabilization of VEGFR2 signaling by cerebral cavernous malformation 3 is critical for vascular development
Cerebral cavernous malformations (CCMs) are human vascular malformations caused by
mutations in three genes of unknown function: CCM1, CCM2, and CCM3. CCM3, also …
mutations in three genes of unknown function: CCM1, CCM2, and CCM3. CCM3, also …