Mutations in transforming growth factor-β receptor type II cause familial thoracic aortic aneurysms and dissections

Circulation

Volumn 112, Issue 4, 2005, Pages 513-520

  Pannu, Hariyadarshi ^a   Fadulu, Van Tran ^a   Chang, Jessica ^a   Lafont, Andrea ^g   Hasham, Sumera N ^a   Sparks, Elizabeth ^c   Giampietro, Philip F ^d   Zaleski, Christina ^d   Estrera, Anthony L ^a   Safi, Hazim J ^a   Shete, Sanjay ^e   Willing, Marcia C ^f   Raman, C S ^b   Milewicz, Dianna M ^a,g  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF TEXAS   (United States)

^c OHIO STATE UNIVERSITY   (United States)

^d MARSHFIELD CLINIC   (United States)

^e UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^f UNIVERSITY OF IOWA   (United States)

^g NONE

Author keywords

Aneurysm; Aorta; Dissection; Genetics; Receptors, transforming growth factor beta

Indexed keywords

ARGININE; GENOMIC DNA; PROTEIN SERINE THREONINE KINASE; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2;

ADULT; AGED; AMINO ACID SUBSTITUTION; AORTA DISSECTING ANEURYSM; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 3P; DESCENDING AORTA; EXON; FAMILIAL DISEASE; FEMALE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; HUMAN; MAJOR CLINICAL STUDY; MALE; MARFAN SYNDROME; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; THORACIC AORTA ANEURYSM;

ADULT; AGED; ANEURYSM, DISSECTING; AORTIC ANEURYSM, THORACIC; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; SIGNAL TRANSDUCTION;

EID: 23044438103     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/CIRCULATIONAHA.105.537340     Document Type: Article

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