Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.
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M. Rieder | J. Shendure | D. Nickerson | S. Leal | J. Coselli | M. Bamshad | D. Milewicz | D. Guo | G. Jondeau | Choel Kim | C. Boileau | D. Casteel | J. J. Kim | R. Santos-Cortez | Darren E. Casteel | G. Chang | S. Dyack | E. Regalado | L. Gong | S. G. Horne | Zhenyu Li | D. Guo | Ellen S. Regalado
[1] E. Boerwinkle,et al. Normal limits in relation to age, body size and gender of two-dimensional echocardiographic aortic root dimensions in persons ≥15 years of age. , 2012, The American journal of cardiology.
[2] Jay Shendure,et al. TGFB2 loss of function mutations cause familial thoracic aortic aneurysms and acute aortic dissections associated with mild systemic features of the Marfan syndrome , 2012, Nature Genetics.
[3] M. Rieder,et al. Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial Aneurysms , 2011, Circulation research.
[4] Timothy Palzkill,et al. Co-Crystal Structures of PKG Iβ (92–227) with cGMP and cAMP Reveal the Molecular Details of Cyclic-Nucleotide Binding , 2011, PloS one.
[5] G. Vriend,et al. Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis , 2011, Nature Genetics.
[6] D. Milewicz,et al. TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections. , 2010, Cardiovascular research.
[7] S. Shete,et al. Mutations in myosin light chain kinase cause familial aortic dissections. , 2010, American journal of human genetics.
[8] J. Corbin,et al. cGMP-Dependent Protein Kinases and cGMP Phosphodiesterases in Nitric Oxide and cGMP Action , 2010, Pharmacological Reviews.
[9] D. Milewicz,et al. Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction. , 2008, Annual review of genomics and human genetics.
[10] I. Lim,et al. Involvement of Protein Kinase A in Nitric Oxide Stimulating Effect on a BKCa Channel of Human Dermal Fibroblasts , 2007 .
[11] D. Milewicz,et al. MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II. , 2007, Human molecular genetics.
[12] K. Eagle,et al. Aortic Diameter ≥5.5 cm Is Not a Good Predictor of Type A Aortic Dissection: Observations From the International Registry of Acute Aortic Dissection (IRAD) , 2007, Circulation.
[13] I. Lim,et al. Involvement of protein kinase A in nitric oxide stimulating effect on a BK(Ca) channel of human dermal fibroblasts. , 2007, The Journal of investigative dermatology.
[14] Robert K. Yu,et al. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections (vol 39, pg 1488, 2007) , 2008 .
[15] P. Byers,et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. , 2006, The New England journal of medicine.
[16] George H. Thomas,et al. Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor , 2006 .
[17] B. Zimmermann,et al. Biomolecular interaction analysis in functional proteomics , 2006, Journal of Neural Transmission.
[18] S. Shete,et al. Familial thoracic aortic aneurysms and dissections: Three families with early‐onset ascending and descending aortic dissections in women , 2006, American journal of medical genetics. Part A.
[19] M Silberstein,et al. Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers. , 2006, American journal of human genetics.
[20] A. Lalande,et al. Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus , 2006, Nature Genetics.
[21] S. Shete,et al. Mutations in Transforming Growth Factor-&bgr; Receptor Type II Cause Familial Thoracic Aortic Aneurysms and Dissections , 2005, Circulation.
[22] J. Corbin,et al. Cyclic nucleotide-dependent protein kinases: intracellular receptors for cAMP and cGMP action. , 1999, Critical reviews in clinical laboratory sciences.
[23] J. Beckwith,et al. Genetic Characterization of Mutations Which Affect Catabolite-Sensitive Operons in Escherichia coli, Including Deletions of the Gene for Adenyl Cyclase , 1973, Journal of bacteriology.