Somatic Activating PIK3CA Mutations Cause Venous Malformation-Reference-Cited by-同舟云学术

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Somatic Activating PIK3CA Mutations Cause Venous Malformation

Published:2015-12 Issue:6 Volume:97 Page:914-921
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Limaye Nisha,Kangas Jaakko,Mendola Antonella,Godfraind Catherine,Schlögel Matthieu J.,Helaers Raphael,Eklund Lauri,Boon Laurence M.,Vikkula Miikka

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference28 articles.

1. Venous malformation: update on aetiopathogenesis, diagnosis and management;Dompmartin;Phlebology,2010

2. Common and specific effects of TIE2 mutations causing venous malformations;Nätynki;Hum. Mol. Genet.,2015

3. Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2;Vikkula;Cell,1996

4. Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects;Wouters;Eur. J. Hum. Genet.,2010

5. Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations;Limaye;Nat. Genet.,2009

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1. Somatic Loss-of-Function PIK3R1 and Activating Non-hotspot PIK3CA Mutations Associated with Capillary Malformation with Dilated Veins (CMDV);Journal of Investigative Dermatology;2024-09

2. PIK3CA-Related Disorders: From Disease Mechanism to Evidence-Based Treatments;Annual Review of Genomics and Human Genetics;2024-08-27

3. Dysfunctional mechanotransduction regulates the progression of PIK3CA-driven vascular malformations;2024-08-23

4. Targeted treatments for vascular malformations: current state of the art;Journal of Thrombosis and Haemostasis;2024-08

5. Somatic RIT1 delins in arteriovenous malformations hyperactivate RAS-MAPK signaling amenable to MEK inhibition;Angiogenesis;2024-07-05

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