Analysis of several endoglin mutants reveals no endogenous mature or secreted protein capable of interfering with normal endoglin function

Hereditary hemorrhagic telangiectasia type 1 (HHT1) is associated with mutations in the ENDOGLIN gene which normally codes for a polypeptide of 653 amino acids expressed at the cell surface as a dimeric glycoprotein. To maximize the detection of potential mutant proteins, we analyzed by pulse-chase...

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Veröffentlicht in:	Human molecular genetics 2001-06, Vol.10 (13), p.1347-1357
Hauptverfasser:	PAQUET, Marie-Eve, PECE-BARBARA, Nadia, VERA, Sonia, CYMERMAR, Urszula, KARABEGOVIC, Amna, SHOVLIN, Claire, LETARTE, Michelle
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Antigens, CD Biological and medical sciences Blood and lymphatic vessels Cardiology. Vascular system Cell Line Child, Preschool Classical genetics, quantitative genetics, hybrids COS Cells Culture Media, Conditioned - metabolism Dimerization DNA - chemistry DNA - genetics DNA Mutational Analysis Endoglin ENDOGLIN gene Endothelium, Vascular - cytology Endothelium, Vascular - metabolism Female Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Hereditary hemorrhagic telangiectasia Human Humans Infant Infant, Newborn Male Medical sciences Miscellaneous Mutation Mutation, Missense Peptide Fragments - genetics Peptide Fragments - metabolism Receptors, Cell Surface Recombinant Fusion Proteins - chemistry Recombinant Fusion Proteins - genetics Recombinant Fusion Proteins - metabolism Sequence Deletion Telangiectasia, Hereditary Hemorrhagic - genetics Umbilical Veins - cytology Umbilical Veins - metabolism Vascular Cell Adhesion Molecule-1 - chemistry Vascular Cell Adhesion Molecule-1 - genetics Vascular Cell Adhesion Molecule-1 - physiology
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