Armando A. Rodriguez ∗ Jeffrey J. Dickeson † Srikanth Sridharan ‡ Akshay Korad § Jaidev Khatri ¶ Dept. of Electrical Eng., Fulton School of Eng., Arizona State University, Tempe, AZ, 85287, U.S.A. Jose Benavides ‖ Don Soloway ∗∗ Guidance, Navigation, and Control, NASA Ames Research Center, Moffett Field, CA, 94035, U.S.A. Atul Kelkar †† Jerald M. Vogel ‡‡ Dept. of Aerospace Eng., College of Eng...

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Hereditary hemorrhagic telangiectasia (HHT) is an inherited autosomal dominant vascular dysplasia caused by mutations in mainly the endoglin gene (ENG) or activin-like kinase receptor 1 (ALK1) gene (ACVRL1). We investigated the molecular basis of HHT in a Japanese patient, and identified a novel missense mutation in ENG (c.38T>A, p.Leu13Gln) located in the signal peptide's hydrophobic core, but...

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Endoglin (ENG), a co-receptor for several TGFβ-family cytokines, is expressed in dividing endothelial cells alongside ALK1, the ACVRL1 gene product. ENG and ACVRL1 are both required for angiogenesis and mutations in either gene are associated with Hereditary Hemorrhagic Telangectasia, a rare genetic vascular disorder. ENG and ALK1 function in the same genetic pathway but the relative contributi...