Access the full text.
Sign up today, get DeepDyve free for 14 days.
A Moustakas, CH Heldin (2009)
The regulation of TGFbeta signal transductionDevelopment, 136
M Pauschinger, D Knopf, S Petschauer (1999)
Dilated cardiomyopathy is associated with significant changes in collagen type I/III ratioCirculation, 99
X Liu, Y Shan, B Xue (2013)
Int7G24A polymorphism (rs334354) and cancer riskArch. Med. Sci., 9
L Zacchigna, C Vecchione, A Notte (2006)
Emilin1 links TGF-beta maturation to blood pressure homeostasisCell, 124
S Rosenkranz (2004)
TGF-beta 1 and angiotensin networking in cardiac remodelingCardiovasc. Res., 63
T Doetschman, J Barnett, B Runyan (2012)
Transforming growth factor beta signaling in adult cardiovascular diseases and repairCell Tissue Res., 347
M Orita, H Jmahana, H Kanazawa (1989)
Detection of polymorphism of human DNA by gel electrophoresis as single cell conformation polymorphismProc. Natl. Acad. Sci. U.S.A., 86
C Stheneur, G Collod-Béroud, L Faivre (2008)
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disordersHum. Mutat., 29
T Chen, CR Jackson, A Link (2006)
Int7G24A variant of transforming growth factor-B receptor type I is associated with invasive breast cancerClin. Cancer Res., 12
M Rao, D Guo, BL Jaber (2004)
Transforming growth factor-beta 1 gene polymorphisms and cardiovascular disease in hemodialysis patientsKidney Int., 66
CC Mathhew (1984)
Methods in Molecular Biology
RK Li, G Li, DA Mickle (1997)
Overexpression of transforming growth factor-beta1 and insulin-like growth factor-I in patients with idiopathic hypertrophic cardiomyopathyCirculation, 96
CT Holweg, CC Baan, HG Niesters (2001)
TGF-beta1 gene polymorphisms in patients with end-stage heart failureJ. Heart Lung Transplant., 20
T Doetschman (1999)
Interpretation of phenotype in genetically engineered miceLab. Anim. Sci., 49
LP Sanford, S Kallapur, I Ormsby, T Doetschman (2001)
Influence of genetic background on knockout mouse phenotypesMethods Mol. Biol., 158
J Saltis, A Agrotis, A Bobik (1996)
Regulation and interactions of transforming growth factor-beta with cardiovascular cells: implications for development and diseaseClin. Exp. Pharmacol. Physiol., 23
HB Deng, CQ Jiang, B Tomlinson (2011)
A polymorphism in transforming growth factor-1 is associated with carotid plaques and increased carotid intimamedia thickness in older Chinese men: the Guangzhou Biobank Cohort Study-Cardiovascular Disease SubcohortAtherosclerosis, 214
S Hein, E Arnon, S Kostin (2003)
Progression from compensated hypertrophy to failure in the pressureoverloaded human heart: structural deterioration and compensatory mechanismsCirculation, 107
KK Singh, K Rommel, A Mishra (2006)
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndromeHum. Mutat., 27
G Xia, Sh Chen (2012)
Transforming growth factor- and smooth muscle differentiationWorld J. Biol. Chem., 26
F Vincent, VM Reiss (1997)
Cloning and genomic organization of the human transforming growth factor-b type I receptor geneGenomics, 46
We examined nine exons of transforming growth factor β receptor type 1 (TGFβR1) gene in patients with chronic heart failure with different types of heart remodelling. We identified two missense mutations (c.457G>A (p.V1531) and c.1285A>C (p.Y229S)) and two synonym substitutions (c.1125A>C (p.Y377Y) and c.516A>G (p.S172S)), as well as polymorphisms at splicing site c.1024+24G>A (rs334354). Substitutions c.1285A>C (p.Y229S) and c.516A>G (p.S172S) were not previously described.
Russian Journal of Genetics – Springer Journals
Published: May 30, 2014
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.