Capillary Malformation–Arteriovenous Malformation, a New Clinical and Genetic Disorder Caused by RASA1 Mutations

2003/12/01 by Iiro Eerola, Laurence M. Boon, John B. Mulliken +8 · 27 citations
Medicine · #Vascular Malformations Diagnosis and Treatment #Vascular Malformations and Hemangiomas #Neurofibromatosis and Schwannoma Cases

paper · pdf · doi:10.1086/379793

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• Venous malformation: update on aetiopathogenesis, diagnosis and management. [europepmc]
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• Nonredundant functions for Ras GTPase-activating proteins in tissue homeostasis. [europepmc]
• Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. [europepmc]
• The RASopathies. [europepmc]
• RASA1 functions in EPHB4 signaling pathway to suppress endothelial mTORC1 activity. [europepmc]
• Two susceptibility loci identified for prostate cancer aggressiveness. [europepmc]
• Pathogenetics of the RASopathies. [europepmc]
• The pathobiology of vascular malformations: insights from human and model organism genetics. [europepmc]
• Expansion of the RASopathies. [europepmc]
• RASA1 regulates the function of lymphatic vessel valves in mice. [europepmc]
• Vascular Anomalies: From a Clinicohistologic to a Genetic Framework. [europepmc]
• Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM). [europepmc]
• Mechanisms of Connexin-Related Lymphedema. [europepmc]
• The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation. [europepmc]
• The Ras Superfamily of Small GTPases in Non-neoplastic Cerebral Diseases. [europepmc]
• Comparative Genomics Reveals Shared Mutational Landscape in Canine Hemangiosarcoma and Human Angiosarcoma. [europepmc]
• Somatic mutations in intracranial arteriovenous malformations. [europepmc]
• Somatic Gain of KRAS Function in the Endothelium Is Sufficient to Cause Vascular Malformations That Require MEK but Not PI3K Signaling. [europepmc]
• Endothelial sprouting, proliferation, or senescence: tipping the balance from physiology to pathology. [europepmc]
• The RASopathies: from pathogenetics to therapeutics. [europepmc]