Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity

Journal of Cell Science

Volumn 123, Issue 24, 2010, Pages 4340-4350

  Horbelt, Daniel ^a   Guo, Gao ^b,c   Robinson, Peter N ^b,c,d   Knaus, Petra ^a,d  

^a FREIE UNIVERSITÄT BERLIN   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^d Berlin Brandenburg Center for Regenerative Therapies   (Germany)

Author keywords

Kinase; Loeys Dietz syndrome; Marfan syndrome type II; Smad; TGF beta receptor; Thoracic aortic aneurysms and dissections

Indexed keywords

SMAD PROTEIN; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2;

ARTICLE; DISEASE SEVERITY; EMBRYO; GENE MUTATION; HUMAN; HUMAN CELL; MARFAN SYNDROME; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; PROTEIN STABILITY; QUANTITATIVE ANALYSIS; SIGNAL TRANSDUCTION; THORACIC AORTA ANEURYSM;

ANIMALS; CERCOPITHECUS AETHIOPS; COS CELLS; ENDOCYTOSIS; GENES, REPORTER; HEK293 CELLS; HUMANS; LUCIFERASES; MARFAN SYNDROME; MINK; MUTANT PROTEINS; MUTATION; PHENOTYPE; PROTEIN KINASES; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; SIGNAL TRANSDUCTION; SMAD PROTEINS;

EID: 78649726867     PISSN: 00219533     EISSN: None     Source Type: Journal    
DOI: 10.1242/jcs.074773     Document Type: Article

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