Published in Nat Genet on February 24, 2003
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science (2006) 10.25
Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. N Engl J Med (2008) 7.31
Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet (2004) 6.15
Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states. Nat Med (2007) 5.25
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TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. J Clin Invest (2004) 4.85
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Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet (2011) 3.93
Noncanonical TGFβ signaling contributes to aortic aneurysm progression in Marfan syndrome mice. Science (2011) 3.49
Angiotensin II type 2 receptor signaling attenuates aortic aneurysm in mice through ERK antagonism. Science (2011) 3.18
Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome. J Clin Invest (2004) 3.01
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Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet (2012) 2.44
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet (2012) 2.34
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Evaluating strategies for the treatment of cerebral cavernous malformations. Stroke (2010) 1.77
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Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites. J Biol Chem (2009) 1.73
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Fibrillin-1 regulates the bioavailability of TGFbeta1. J Cell Biol (2007) 1.67
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Impaired lung homeostasis in neonatal mice exposed to cigarette smoke. Am J Respir Cell Mol Biol (2007) 1.56
Mechanics of carotid arteries in a mouse model of Marfan Syndrome. Ann Biomed Eng (2009) 1.56
Fibrillin controls TGF-beta activation. Nat Genet (2003) 1.53
GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling. Hum Mol Genet (2011) 1.52
Biogenesis and function of fibrillin assemblies. Cell Tissue Res (2009) 1.50
The importance of genetic testing in the clinical management of patients with Marfan syndrome and related disorders. Dtsch Arztebl Int (2008) 1.49
A Pkd1-Fbn1 genetic interaction implicates TGF-β signaling in the pathogenesis of vascular complications in autosomal dominant polycystic kidney disease. J Am Soc Nephrol (2013) 1.49
Fibrillin-1 and -2 differentially modulate endogenous TGF-β and BMP bioavailability during bone formation. J Cell Biol (2010) 1.49
Doxycycline delays aneurysm rupture in a mouse model of Marfan syndrome. J Vasc Surg (2008) 1.48
Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. PLoS Genet (2011) 1.47
Transforming growth factor-beta signaling pathway in patients with Kawasaki disease. Circ Cardiovasc Genet (2010) 1.45
Transforming growth factor-beta signaling mediates hypoxia-induced pulmonary arterial remodeling and inhibition of alveolar development in newborn mouse lung. Am J Physiol Lung Cell Mol Physiol (2008) 1.45
LRP1 functions as an atheroprotective integrator of TGFbeta and PDFG signals in the vascular wall: implications for Marfan syndrome. PLoS One (2007) 1.44
Transforming growth factor-beta signaling in thoracic aortic aneurysm development: a paradox in pathogenesis. J Vasc Res (2008) 1.42
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. Int J Cardiol (2011) 1.41
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Perturbation of transforming growth factor (TGF)-beta1 association with latent TGF-beta binding protein yields inflammation and tumors. Proc Natl Acad Sci U S A (2008) 1.40
Tgfbr2 disruption in postnatal smooth muscle impairs aortic wall homeostasis. J Clin Invest (2014) 1.40
Matrix control of transforming growth factor-β function. J Biochem (2012) 1.39
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. Eur J Hum Genet (2010) 1.39
Microfibrils, elastin fibres and collagen fibres in the human intervertebral disc and bovine tail disc. J Anat (2007) 1.38
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Stromal regulation of vessel stability by MMP14 and TGFbeta. Dis Model Mech (2010) 1.35
High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders. J Allergy Clin Immunol (2013) 1.35
TGFβ signaling and cardiovascular diseases. Int J Biol Sci (2012) 1.35
Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. Am J Hum Genet (2009) 1.34
Extracellular microfibrils in vertebrate development and disease processes. J Biol Chem (2009) 1.34
Angiotensin II-dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis. J Clin Invest (2013) 1.32
p38 MAPK is an early determinant of promiscuous Smad2/3 signaling in the aortas of fibrillin-1 (Fbn1)-null mice. J Biol Chem (2008) 1.32
Matrix-dependent perturbation of TGFβ signaling and disease. FEBS Lett (2012) 1.31
The stumbling block in lung repair of emphysema: elastic fiber assembly. Proc Am Thorac Soc (2006) 1.28
Prolonged mechanical ventilation with air induces apoptosis and causes failure of alveolar septation and angiogenesis in lungs of newborn mice. Am J Physiol Lung Cell Mol Physiol (2009) 1.27
COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets. Hum Mol Genet (2012) 1.26
Deficiency in microfibril-associated glycoprotein-1 leads to complex phenotypes in multiple organ systems. J Biol Chem (2008) 1.26
Specificity of latent TGF-β binding protein (LTBP) incorporation into matrix: role of fibrillins and fibronectin. J Cell Physiol (2012) 1.22
Excessive transforming growth factor-β signaling is a common mechanism in osteogenesis imperfecta. Nat Med (2014) 1.21
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. Hum Mutat (2011) 1.20
LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma. Eur J Hum Genet (2010) 1.20
Diminished type III collagen promotes myofibroblast differentiation and increases scar deposition in cutaneous wound healing. Cells Tissues Organs (2011) 1.19
Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders. Circulation (2008) 1.18
Angiotensin receptor blockade attenuates cigarette smoke-induced lung injury and rescues lung architecture in mice. J Clin Invest (2011) 1.17
Regulation of valvular interstitial cell calcification by components of the extracellular matrix. J Biomed Mater Res A (2009) 1.17
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Characterization of the inflammatory cells in ascending thoracic aortic aneurysms in patients with Marfan syndrome, familial thoracic aortic aneurysms, and sporadic aneurysms. J Thorac Cardiovasc Surg (2008) 1.15
Dual functions for LTBP in lung development: LTBP-4 independently modulates elastogenesis and TGF-beta activity. J Cell Physiol (2009) 1.14
Tissue elasticity and the ageing elastic fibre. Age (Dordr) (2009) 1.14
Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy. Am Heart J (2013) 1.14
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Extracellular movement of signaling molecules. Dev Cell (2011) 1.13
Extracellular microfibrils control osteoblast-supported osteoclastogenesis by restricting TGF{beta} stimulation of RANKL production. J Biol Chem (2010) 1.13
Biglycan and fibromodulin have essential roles in regulating chondrogenesis and extracellular matrix turnover in temporomandibular joint osteoarthritis. Am J Pathol (2009) 1.13
RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: a potential factor in the pathogenesis of the Marfan syndrome. Hum Genet (2004) 1.12
Fibulin-5, an integrin-binding matricellular protein: its function in development and disease. J Cell Commun Signal (2009) 1.11
Transforming growth factor beta signaling in adult cardiovascular diseases and repair. Cell Tissue Res (2011) 1.10
A fibronectin-independent mechanism of collagen fibrillogenesis in adult liver remodeling. Gastroenterology (2011) 1.09
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
Transactivation of miR-34a by p53 broadly influences gene expression and promotes apoptosis. Mol Cell (2007) 14.58
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
Genome-wide association study of blood pressure and hypertension. Nat Genet (2009) 11.54
Widespread microRNA repression by Myc contributes to tumorigenesis. Nat Genet (2007) 10.78
Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science (2006) 10.25
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet (2005) 9.62
Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med (2006) 9.50
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. N Engl J Med (2008) 7.31
The revised Ghent nosology for the Marfan syndrome. J Med Genet (2010) 6.87
Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise. Nat Genet (2004) 6.14
New loci associated with kidney function and chronic kidney disease. Nat Genet (2010) 5.58
Exosome-mediated recognition and degradation of mRNAs lacking a termination codon. Science (2002) 5.46
Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states. Nat Med (2007) 5.25
An mRNA surveillance mechanism that eliminates transcripts lacking termination codons. Science (2002) 5.22
Atenolol versus losartan in children and young adults with Marfan's syndrome. N Engl J Med (2014) 5.11
Marfan's syndrome. Lancet (2005) 4.99
TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. J Clin Invest (2004) 4.85
Multiple loci associated with indices of renal function and chronic kidney disease. Nat Genet (2009) 4.78
A genome-wide linkage and association scan reveals novel loci for autism. Nature (2009) 4.76
Common variants at ten loci modulate the QT interval duration in the QTSCD Study. Nat Genet (2009) 4.10
Common variants in KCNN3 are associated with lone atrial fibrillation. Nat Genet (2010) 3.97
Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein. J Biol Chem (2002) 3.92
Genomic alterations in cultured human embryonic stem cells. Nat Genet (2005) 3.89
Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts. Science (2002) 3.84
Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry. Nat Genet (2009) 3.80
Genome-wide association study of PR interval. Nat Genet (2010) 3.73
Meta-analysis identifies six new susceptibility loci for atrial fibrillation. Nat Genet (2012) 3.71
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet (2010) 3.55
Noncanonical TGFβ signaling contributes to aortic aneurysm progression in Marfan syndrome mice. Science (2011) 3.49
Treatment of aortic disease in patients with Marfan syndrome. Circulation (2005) 3.48
Angiotensin II type 2 receptor signaling attenuates aortic aneurysm in mice through ERK antagonism. Science (2011) 3.18
Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome. J Clin Invest (2004) 3.01
Lessons on the pathogenesis of aneurysm from heritable conditions. Nature (2011) 2.97
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet (2006) 2.94
Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature (2005) 2.90
Human embryonic stem cells have a unique epigenetic signature. Genome Res (2006) 2.89
Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. Circ Cardiovasc Genet (2010) 2.76
CUBN is a gene locus for albuminuria. J Am Soc Nephrol (2011) 2.70
Circulating transforming growth factor-beta in Marfan syndrome. Circulation (2009) 2.69
Association between a functional variant of the KLOTHO gene and high-density lipoprotein cholesterol, blood pressure, stroke, and longevity. Circ Res (2005) 2.63
Genetic variations in nitric oxide synthase 1 adaptor protein are associated with sudden cardiac death in US white community-based populations. Circulation (2009) 2.55
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet (2012) 2.44
Association of human aging with a functional variant of klotho. Proc Natl Acad Sci U S A (2002) 2.38
Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases. PLoS Genet (2012) 2.34
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet (2012) 2.34
Perturbations of vascular homeostasis and aortic valve abnormalities in fibulin-4 deficient mice. Circ Res (2007) 2.32
Associations between genetic variants in the NOS1AP (CAPON) gene and cardiac repolarization in the old order Amish. Hum Hered (2007) 2.26
Prolyl 3-hydroxylase 1, enzyme characterization and identification of a novel family of enzymes. J Biol Chem (2004) 2.23
Fibrillins 1 and 2 perform partially overlapping functions during aortic development. J Biol Chem (2005) 2.19
Rationale and design of a randomized clinical trial of beta-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome. Am Heart J (2007) 2.14
TGFβ receptor mutations impose a strong predisposition for human allergic disease. Sci Transl Med (2013) 2.08
Control of liver cell fate decision by a gradient of TGF beta signaling modulated by Onecut transcription factors. Genes Dev (2005) 2.02
Downregulation and growth inhibitory effect of epithelial-type Krüppel-like transcription factor KLF4, but not KLF5, in bladder cancer. Biochem Biophys Res Commun (2003) 2.01
Marfan syndrome: from molecular pathogenesis to clinical treatment. Curr Opin Genet Dev (2007) 1.99
Type VII collagen is required for Ras-driven human epidermal tumorigenesis. Science (2005) 1.94
The prodomain of BMP-7 targets the BMP-7 complex to the extracellular matrix. J Biol Chem (2005) 1.91
Independent susceptibility markers for atrial fibrillation on chromosome 4q25. Circulation (2010) 1.90
KLOTHO allele status and the risk of early-onset occult coronary artery disease. Am J Hum Genet (2003) 1.90
Identifying allelic loss and homozygous deletions in pancreatic cancer without matched normals using high-density single-nucleotide polymorphism arrays. Cancer Res (2006) 1.89
Integrin-modulating therapy prevents fibrosis and autoimmunity in mouse models of scleroderma. Nature (2013) 1.86
DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. Am J Hum Genet (2006) 1.85
Targeting of bone morphogenetic protein growth factor complexes to fibrillin. J Biol Chem (2008) 1.80
Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease. Ann Thorac Surg (2007) 1.75
Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites. J Biol Chem (2009) 1.73
Polymorphisms in the NOS1AP gene modulate QT interval duration and risk of arrhythmias in the long QT syndrome. J Am Coll Cardiol (2010) 1.73
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nat Genet (2013) 1.72
Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis. Gastroenterology (2006) 1.71
Genome-wide association analysis identifies multiple loci related to resting heart rate. Hum Mol Genet (2010) 1.67
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. J Med Genet (2012) 1.62
Fibrillins can co-assemble in fibrils, but fibrillin fibril composition displays cell-specific differences. J Biol Chem (2002) 1.61
Fibronectin is required for integrin alphavbeta6-mediated activation of latent TGF-beta complexes containing LTBP-1. FASEB J (2005) 1.61
Validation and extension of an empirical Bayes method for SNP calling on Affymetrix microarrays. Genome Biol (2008) 1.61
A resource for analysis of microRNA expression and function in pancreatic ductal adenocarcinoma cells. Cancer Biol Ther (2009) 1.61
Aortic root replacement in 271 Marfan patients: a 24-year experience. Ann Thorac Surg (2002) 1.59
Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance. Am J Med Genet A (2007) 1.54
Recent progress towards a molecular understanding of Marfan syndrome. Am J Med Genet C Semin Med Genet (2005) 1.50
Biogenesis and function of fibrillin assemblies. Cell Tissue Res (2009) 1.50
Differential expression of fibrillin-3 adds to microfibril variety in human and avian, but not rodent, connective tissues. Genomics (2004) 1.49
Synergistic heterozygosity for TGFbeta1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension. Genet Med (2008) 1.49
A Pkd1-Fbn1 genetic interaction implicates TGF-β signaling in the pathogenesis of vascular complications in autosomal dominant polycystic kidney disease. J Am Soc Nephrol (2013) 1.49
Fibrillin-1 and -2 differentially modulate endogenous TGF-β and BMP bioavailability during bone formation. J Cell Biol (2010) 1.49
Doxycycline delays aneurysm rupture in a mouse model of Marfan syndrome. J Vasc Surg (2008) 1.48
Fibrillin microfibrils: multipurpose extracellular networks in organismal physiology. Physiol Genomics (2004) 1.45