Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function

Human Molecular Genetics

Volumn 24, Issue 4, 2015, Pages 1142-1154

  Mallet, Christine ^a,b,c   Lamribet, Khadija ^a,b,c   Giraud, Sophie ^d   Dupuis Girod, Sophie ^e   Feige, Jean Jacques ^a,b,c   Bailly, Sabine ^a,b,c   Tillet, Emmanuelle ^a,b,c  

^a INSERM   (France)

^b CEA GRENOBLE   (France)

^c UNIV GRENOBLE ALPES   (France)

^d EDOUARD HERRIOT HOSPITAL   (France)

^e LOUIS PRADEL HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVIN RECEPTOR LIKE KINASE 1; AMINO ACID; BONE MORPHOGENETIC PROTEIN 9; CELL SURFACE PROTEIN; ENDOGLIN; CELL SURFACE RECEPTOR; ENG PROTEIN, HUMAN; GDF2 PROTEIN, HUMAN; GROWTH DIFFERENTIATION FACTOR; LEUKOCYTE ANTIGEN; PROTEIN BINDING;

ARTICLE; CELL SURFACE; ENDOPLASMIC RETICULUM; GENE EXPRESSION; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; LIGAND BINDING; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; PATHOGENICITY; PLACENTA LOCALIZATION; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN FUNCTION; REGULATORY MECHANISM; RENDU OSLER WEBER DISEASE; WILD TYPE; ANIMAL; CELL LINE; CELL MEMBRANE; CHEMISTRY; GENETICS; METABOLISM; MOUSE; MUTATION; PHENOTYPE; PROTEIN MULTIMERIZATION; PROTEIN TRANSPORT; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

ANIMALS; ANTIGENS, CD; CELL LINE; CELL MEMBRANE; GENE EXPRESSION; GROWTH DIFFERENTIATION FACTORS; HUMANS; MICE; MUTATION; PHENOTYPE; PROTEIN BINDING; PROTEIN MULTIMERIZATION; PROTEIN TRANSPORT; RECEPTORS, CELL SURFACE; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 84922440153     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu531     Document Type: Article

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