Published in PLoS One on February 24, 2014
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature (1991) 11.44
Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet (2003) 11.01
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
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
Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. J Cell Biol (1986) 5.22
TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. J Clin Invest (2004) 4.85
Matrix metalloproteinases 2 and 9 work in concert to produce aortic aneurysms. J Clin Invest (2002) 4.79
In vivo molecular target assessment of matrix metalloproteinase inhibition. Nat Med (2001) 4.30
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet (2011) 3.93
Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet (1995) 3.42
TGF-beta receptor type II deficiency results in defects of yolk sac hematopoiesis and vasculogenesis. Dev Biol (1996) 3.29
Abnormal angiogenesis but intact hematopoietic potential in TGF-beta type I receptor-deficient mice. EMBO J (2001) 3.24
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat Genet (2012) 2.50
Isolation of vascular smooth muscle cells from a single murine aorta. Methods Cell Sci (2001) 2.48
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet (2012) 2.44
Double-outlet right ventricle and overriding tricuspid valve reflect disturbances of looping, myocardialization, endocardial cushion differentiation, and apoptosis in TGF-beta(2)-knockout mice. Circulation (2001) 2.23
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. Hum Mutat (2006) 1.93
Syndromic and non-syndromic aneurysms of the human ascending aorta share activation of the Smad2 pathway. J Pathol (2009) 1.74
The Loeys-Dietz syndrome: an update for the clinician. Curr Opin Cardiol (2010) 1.44
Cardiovascular malformations with normal smooth muscle differentiation in neural crest-specific type II TGFbeta receptor (Tgfbr2) mutant mice. Dev Biol (2005) 1.40
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. Nat Genet (2011) 1.39
Absence of TGFbeta signaling in embryonic vascular smooth muscle leads to reduced lysyl oxidase expression, impaired elastogenesis, and aneurysm. Genesis (2009) 1.37
Compensatory signalling induced in the yolk sac vasculature by deletion of TGFbeta receptors in mice. J Cell Sci (2007) 1.31
Fibrillln mutations in Marfan syndrome and related phenotypes. Curr Opin Genet Dev (1996) 1.27
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. Circulation (2009) 1.21
Defective ALK5 signaling in the neural crest leads to increased postmigratory neural crest cell apoptosis and severe outflow tract defects. BMC Dev Biol (2006) 1.20
Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome. Eur J Hum Genet (2006) 1.11
Efficient and fast targeted production of murine models based on ENU mutagenesis. Mamm Genome (2005) 1.11
Genetic modifiers interact with maternal determinants in vascular development of Tgfb1(-/-) mice. Hum Mol Genet (2003) 1.03
Multimodality imaging reveals a gradual increase in matrix metalloproteinase activity at aneurysmal lesions in live fibulin-4 mice. Circ Cardiovasc Imaging (2010) 1.03
Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions. Genesis (2008) 0.93
Epistatic interactions between modifier genes confer strain-specific redundancy for Tgfb1 in developmental angiogenesis. Genomics (2005) 0.90
TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating. J Recept Signal Transduct Res (2012) 0.80
Transforming growth factor-β signaling pathway in Marfan's syndrome: a preliminary histopathological study. Vasa (2011) 0.77
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet (2017) 1.39
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. Hum Mutat (2011) 1.20
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. Hum Mutat (2012) 0.93
Pharmacologic activation of wild-type p53 by nutlin therapy in childhood cancer. Cancer Lett (2013) 0.91
Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta. J Bone Miner Res (2015) 0.90
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. Mol Genet Metab (2014) 0.87
Reference values for echocardiographic assessment of the diameter of the aortic root and ascending aorta spanning all age categories. Am J Cardiol (2014) 0.86
Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum. J Invest Dermatol (2014) 0.81
Molecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporter. PLoS One (2014) 0.79
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. Genet Med (2016) 0.79
Redefining the MED13L syndrome. Eur J Hum Genet (2015) 0.77
BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment. Sci Rep (2016) 0.77
Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type. Genet Med (2016) 0.75
(99m)Tc-labelled S-HYNIC certolizumab pegol in rheumatoid arthritis and spondyloarthritis patients: a biodistribution and dosimetry study. EJNMMI Res (2016) 0.75
Micromelic dysplasia-like syndrome in a captive colony of common marmosets (Callithrix jacchus). Comp Med (2014) 0.75
Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene. J Pediatr Genet (2014) 0.75
The fate of the vitelline and umbilical veins during the development of the human liver. J Anat (2017) 0.75
Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability. Am J Med Genet A (2017) 0.75
A novel approach for regional anaesthesia of the auricular region in horses: an anatomic and imaging study. Vet Anaesth Analg (2017) 0.75
A Preclinical Study of an Implanted Device in the Pulmonary Veins, Intended for the Treatment of Atrial Fibrillation in an Ovine Model. Pacing Clin Electrophysiol (2016) 0.75
Infrahepatic inferior caval and azygos vein formation in mammals with different degrees of mesonephric development. J Anat (2015) 0.75
Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation. Am J Med Genet A (2015) 0.75