TGFβRIIb mutations trigger aortic aneurysm pathogenesis by altering transforming growth factor β2 signal transduction

Circulation: Cardiovascular Genetics

Volumn 5, Issue 6, 2012, Pages 621-629

  Bee, Katharine J ^a   Wilkes, David C ^a   Devereux, Richard B ^a   Basson, Craig T ^a   Hatcher, Cathy J ^a  

^a WEILL CORNELL MEDICAL COLLEGE   (United States)

Author keywords

Aneurysm; Aorta; Cardiovascular diseases; Genetics; Transforming growth factor pathway

Indexed keywords

ALPHA SMOOTH MUSCLE ACTIN; MYOSIN II; SMAD2 PROTEIN; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2; TRANSFORMING GROWTH FACTOR BETA2;

ADULT; AGED; ANIMAL CELL; ARTICLE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; EXON; FEMALE; GENE FREQUENCY; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HUMAN; IN VITRO STUDY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; RAT; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; THORACIC AORTA ANEURYSM;

ADULT; AGED; AGED, 80 AND OVER; AORTIC ANEURYSM, THORACIC; BASE SEQUENCE; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; FIBROBLASTS; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; MYOSIN HEAVY CHAINS; PEDIGREE; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; RNA, MESSENGER; SIGNAL TRANSDUCTION; TRANSFORMING GROWTH FACTOR BETA1; TRANSFORMING GROWTH FACTOR BETA2; YOUNG ADULT;

EID: 84873913498     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.112.964064     Document Type: Article

References (10)

1. Coady MA, Davies RR, Roberts M, Goldstein LJ, Rogalski MJ, Rizzo JA, et al. Familial patterns of thoracic aortic aneurysms. Arch Surg. 1999;134:361-367.
2. Palmieri V, Bella JN, Arnett DK, Roman MJ, Oberman A, Kitzman DW, et al. Aortic root dilatation at sinuses of valsalva and aortic regurgitation in hypertensive and normotensive subjects: The Hypertension Genetic Epidemiology Network Study. Hypertension. 2001;37:1229-1235.
3. Bella JN, MacCluer JW, Roman MJ, Almasy L, North KE, Welty, T. K.,et al. Genetic influences on aortic root size in American Indians: The Strong Heart Study. Arterioscler Thromb Vasc Biol. 2002;22:1008-1011.
4. Albornoz G, Coady MA, Roberts M, Davies RR, Tranquilli M, Rizzo JA, et al. Familial thoracic aortic aneurysms and dissections-incidence, modes of inheritance, and phenotypic patterns. Ann Thorac Surg. 2006;82:1400-1405.
5. Devereux RB, de Simone G, Arnett DK, Best LG, Boerwinkle E, Howard BH, et al. Two-dimensional echocardiographic aortic root dimensions in adolescents and adults: Normal limits in relation to age, body size and gender. J Am Coll Cardiol. 2010;55:A87.E824.
6. Coady MA, Davies RR, Roberts M, Goldstein LJ, Rogalski MJ, Rizzo JA, et al. Familial patterns of thoracic aortic aneurysms. Arch Surg. 1999;134:361-367.
7. Palmieri V, Bella JN, Arnett DK, Roman MJ, Oberman A, Kitzman DW, et al. Aortic root dilatation at sinuses of valsalva and aortic regurgitation in hypertensive and normotensive subjects: The Hypertension Genetic Epidemiology Network Study. Hypertension. 2001;37:1229-1235.
8. Bella JN, MacCluer JW, Roman MJ, Almasy L, North KE, Welty, T. K.,et al. Genetic influences on aortic root size in American Indians: The Strong Heart Study. Arterioscler Thromb Vasc Biol. 2002;22:1008-1011.
9. Albornoz G, Coady MA, Roberts M, Davies RR, Tranquilli M, Rizzo JA, et al. Familial thoracic aortic aneurysms and dissections-incidence, modes of inheritance, and phenotypic patterns. Ann Thorac Surg. 2006;82:1400-1405.
10. Devereux RB, de Simone G, Arnett DK, Best LG, Boerwinkle E, Howard BH, et al. Two-dimensional echocardiographic aortic root dimensions in adolescents and adults: Normal limits in relation to age, body size and gender. J Am Coll Cardiol. 2010;55:A87.E824.