Evon DeBose-Scarlett

Abstract 4363073: Somatic activating mutation in Phosphoinositide 3-kinase in a plexiform lesion of a patient with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension

Katharina Schimmel, Evon DeBose-Scarlett, Yue Qi, Serena Y. Tan et autres

Background: Hereditary hemorrhagic telangiectasia (HHT) and hereditary pulmonary arterial hypertension (HPAH) are genetic diseases that affect the pulmonary vasculature. HHT and HPAH are due to a haploinsufficiency in components of the bone morphogenetic protein receptor type 2 (BMPR2) pathway. Despite shared genetics, …

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The Role of Somatic Mutation in Hereditary Hemorrhagic Telangiectasia Pathogenesis

Evon DeBose-Scarlett, Douglas A. Marchuk

were discovered in individuals with HHT, haploinsufficiency, a 50% reduction in the encoded protein, was proposed as the molecular mechanism of HHT. However, the focal and discrete nature of HHT-associated vascular malformations suggested to others that vascular malformation genesis requires an additional, …

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Investigating Somatic Mutations in Pulmonary Lesions of Patients With Hereditary Pulmonary Arterial Hypertension and Hereditary Hemorrhagic Telangiectasia

Katharina Schimmel, Evon DeBose-Scarlett, Serena Y. Tan, Micheala A. Aldred et autres

Abstract Introduction Hereditarypulmonary arterial hypertension (HPAH) and hereditary hemorrhagic telangiectasia(HHT) are two rare genetic diseases affecting the pulmonary vasculature. Theyare both characterized by haploinsufficiency in different components of the bonemorphogenetic protein receptor type 2 (BMPR2) pathway. Despite shared genetics, the vascular phenotype …

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Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesis

Evon DeBose-Scarlett, Andrew K. Ressler, Carol J. Gallione, Gonzalo Sapisochin Cantis et autres

Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesis

Evon DeBose-Scarlett, Andrew K. Ressler, Carol J. Gallione, Gonzalo Sapisochin Cantis et autres

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Except for Robust Outliers, Rapamycin Increases Lesion Burden in a Murine Model of Cerebral Cavernous Malformations

Roberto J. Alcazar‐Félix, Robert Shenkar, Christian R. Benavides, Akash Bindal et autres

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