Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms.
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Times Cited: 190
Times Cited: 190
Times Cited
Times Co-cited
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Mutations in NOTCH1 cause aortic valve disease.
Vidu Garg, Alecia N Muth, Joshua F Ransom, Marie K Schluterman, Robert Barnes, Isabelle N King, Paul D Grossfeld, Deepak Srivastava. Nature 2005
Vidu Garg, Alecia N Muth, Joshua F Ransom, Marie K Schluterman, Robert Barnes, Isabelle N King, Paul D Grossfeld, Deepak Srivastava. Nature 2005
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Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve.
Salah A Mohamed, Zouhair Aherrahrou, Henrike Liptau, Armin W Erasmi, Carolin Hagemann, Sandra Wrobel, Katja Borzym, Heribert Schunkert, Hans H Sievers, Jeanette Erdmann. Biochem Biophys Res Commun 2006
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Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.
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NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.
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Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve.
Ilenia Foffa, Lamia Ait Alì, Paola Panesi, Massimiliano Mariani, Pierluigi Festa, Nicoletta Botto, Cecilia Vecoli, Maria Grazia Andreassi. BMC Med Genet 2013
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Bicuspid aortic valve is heritable.
Linda Cripe, Gregor Andelfinger, Lisa J Martin, Kerry Shooner, D Woodrow Benson. J Am Coll Cardiol 2004
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Notch promotes epithelial-mesenchymal transition during cardiac development and oncogenic transformation.
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Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease.
Ratnasari Padang, Richard D Bagnall, David R Richmond, Paul G Bannon, Christopher Semsarian. J Mol Cell Cardiol 2012
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A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve.
K Huntington, A G Hunter, K L Chan. J Am Coll Cardiol 1997
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A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications: insights from the International BAVCon (Bicuspid Aortic Valve Consortium).
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Human disease modeling reveals integrated transcriptional and epigenetic mechanisms of NOTCH1 haploinsufficiency.
Christina V Theodoris, Molong Li, Mark P White, Lei Liu, Daniel He, Katherine S Pollard, Benoit G Bruneau, Deepak Srivastava. Cell 2015
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Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome.
Guglielmina Pepe, Stefano Nistri, Betti Giusti, Elena Sticchi, Monica Attanasio, Cristina Porciani, Rosanna Abbate, Robert O Bonow, Magdi Yacoub, Gian Franco Gensini. BMC Med Genet 2014
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Loss of Gata5 in mice leads to bicuspid aortic valve.
Brigitte Laforest, Gregor Andelfinger, Mona Nemer. J Clin Invest 2011
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Bicuspid aortic valve: identifying knowledge gaps and rising to the challenge from the International Bicuspid Aortic Valve Consortium (BAVCon).
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Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families.
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Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation.
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MAT2A mutations predispose individuals to thoracic aortic aneurysms.
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Incidence of aortic complications in patients with bicuspid aortic valves.
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Endothelial nitric oxide signaling regulates Notch1 in aortic valve disease.
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Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.
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Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
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2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).
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ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm.
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Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus.
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Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve.
Elizabeth M Bonachea, Sheng-Wei Chang, Gloria Zender, Stephanie LaHaye, Sara Fitzgerald-Butt, Kim L McBride, Vidu Garg. Pediatr Res 2014
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Mutations in myosin light chain kinase cause familial aortic dissections.
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Abnormal aortic valve development in mice lacking endothelial nitric oxide synthase.
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TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
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A novel NKX2.5 loss-of-function mutation associated with congenital bicuspid aortic valve.
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A classification system for the bicuspid aortic valve from 304 surgical specimens.
Hans-H Sievers, Claudia Schmidtke. J Thorac Cardiovasc Surg 2007
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Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance.
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Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.
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The incidence of congenital heart disease.
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Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.
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Bicuspid aortic valves with different spatial orientations of the leaflets are distinct etiological entities.
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Genetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and Diagnosis.
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Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.