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 …
Consensus guidelines for the use and interpretation of angiogenesis assays
The formation of new blood vessels, or angiogenesis, is a complex process that plays
important roles in growth and development, tissue and organ regeneration, as well as …
important roles in growth and development, tissue and organ regeneration, as well as …
Lymphatic malformations: genetics, mechanisms and therapeutic strategies
Lymphatic vessels maintain tissue fluid homeostasis by returning to blood circulation
interstitial fluid that has extravasated from the blood capillaries. They provide a trafficking …
interstitial fluid that has extravasated from the blood capillaries. They provide a trafficking …
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 …
permeability and pathological vascular remodelling during inflammation, tumour …
A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations
G Canaud, AM Hammill, D Adams, M Vikkula… - Orphanet Journal of …, 2021 - Springer
Background PIK3CA-related disorders include vascular malformations and overgrowth of
various tissues that are caused by postzygotic, somatic variants in the gene encoding …
various tissues that are caused by postzygotic, somatic variants in the gene encoding …
Sirolimus (rapamycin) for slow-flow malformations in children: the observational-phase randomized clinical PERFORMUS trial
A Maruani, E Tavernier, O Boccara… - JAMA …, 2021 - jamanetwork.com
Importance Sirolimus is increasingly being used to treat various vascular anomalies,
although evidence of its efficacy is lacking. Objective To assess the efficacy and safety of …
although evidence of its efficacy is lacking. Objective To assess the efficacy and safety of …
Sirolimus is efficacious in treatment for extensive and/or complex slow-flow vascular malformations: a monocentric prospective phase II study
J Hammer, E Seront, S Duez, S Dupont… - Orphanet journal of rare …, 2018 - Springer
Background Extensive and complex vascular malformations often cause chronic pain and
severe functional restraint. Conventional treatments, such as surgery and/or sclerotherapy …
severe functional restraint. Conventional treatments, such as surgery and/or sclerotherapy …
Somatic activating PIK3CA mutations cause venous malformation
Somatic mutations in TEK, the gene encoding endothelial cell tyrosine kinase receptor TIE2,
cause more than half of sporadically occurring unifocal venous malformations (VMs). Here …
cause more than half of sporadically occurring unifocal venous malformations (VMs). Here …
Tie1 controls angiopoietin function in vascular remodeling and inflammation
EA Korhonen, A Lampinen, H Giri… - The Journal of …, 2016 - Am Soc Clin Investig
The angiopoietin/Tie (ANG/Tie) receptor system controls developmental and tumor
angiogenesis, inflammatory vascular remodeling, and vessel leakage. ANG1 is a Tie2 …
angiogenesis, inflammatory vascular remodeling, and vessel leakage. ANG1 is a Tie2 …
Opposing actions of angiopoietin-2 on Tie2 signaling and FOXO1 activation
M Kim, B Allen, EA Korhonen… - The Journal of …, 2016 - Am Soc Clin Investig
Angiopoietin-2 (ANG2) regulates blood vessel remodeling in many pathological conditions
through differential effects on Tie2 signaling. While ANG2 competes with ANG1 to inhibit …
through differential effects on Tie2 signaling. While ANG2 competes with ANG1 to inhibit …