Human Genome Epidemiology Literature Finder
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Records 1 - 16 (of 16 Records) |
| Query Trace: Disease and ACTA2[original query] |
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| TGFßRIIb mutations trigger aortic aneurysm pathogenesis by altering transforming growth factor ß2 signal transduction. Circulation. Cardiovascular genetics 2012 Dec 5 (6): 621-9. Bee Katharine J, Wilkes David C, Devereux Richard B, Basson Craig T, Hatcher Cathy |
| Acute aortic dissections with pregnancy in women with ACTA2 mutations. American journal of medical genetics. Part A 2014 Jan 164A (1): 106-12. Regalado Ellen S, Guo Dong-chuan, Estrera Anthony L, Buja L Maximilian, Milewicz Dianna |
| Mutation genotypes of RNF213 gene from moyamoya patients in Taiwan. Journal of the neurological sciences 2015 Jun 353 (1-2): 161-5. Lee Ming-Jen, Chen Ya-Fang, Fan Pi-Chuan, Wang Kuo-Chuan, Wang Kai, Wang Jinyuan, Kuo Meng-F |
| Congenital heart defects are rarely caused by mutations in cardiac and smooth muscle actin genes. BioMed research international 2015 2015 127807. Khodyuchenko Tatiana, Zlotina Anna, Pervunina Tatiana, Zverev Dmitry, Malashicheva Anna, Kostareva An |
| Alpha-actin-2 mutations in Chinese patients with a non-syndromatic thoracic aortic aneurysm. BMC medical genetics 2016 17 (1): 45. Ke Tie, Han Meng, Zhao Miao, Wang Qing Kenneth, Zhang Huazhi, Zhao Yuanyuan, Ruan Xinlong, Li Hui, Xu Chengqi, Sun Tuche |
| RNF213 as the major susceptibility gene for Chinese patients with moyamoya disease and its clinical relevance. Journal of neurosurgery 2017 Apr 126 (4): 1106-1113. Zhang Qian, Liu Yaping, Zhang Dong, Wang Rong, Zhang Yan, Wang Shuo, Yu Lanbing, Lu Chaoxia, Liu Fang, Zhou Jian, Zhang Xue, Zhao Jizo |
| Genetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and Diagnosis. Frontiers in physiology 2017 8 612. Giusti Betti, Sticchi Elena, De Cario Rosina, Magi Alberto, Nistri Stefano, Pepe Guglielmi |
| Search for genetic factors in bicuspid aortic valve disease: ACTA2 mutations do not play a major role. Interactive cardiovascular and thoracic surgery 2017 Nov 25 (5): 813-817. Tortora Giada, Wischmeijer Anita, Berretta Paolo, Alfonsi Jacopo, Di Marco Luca, Barbieri Andrea, Marconi Caterina, Isidori Federica, Rossi Cesare, Leone Ornella, Di Bartolomeo Roberto, Seri Marco, Pacini Davi |
| Genetic diagnosis of acute aortic dissection in South China Han population using next-generation sequencing. International journal of legal medicine 2018 7 132 (5): 1273-1280. Zheng Jinxiang, Guo Jian, Huang Lei, Wu Qiuping, Yin Kun, Wang Lin, Zhang Tongda, Quan Li, Zhao Qianhao, Cheng Jiandi |
| Acute Stanford type B aortic dissection-who benefits from genetic testing? Journal of thoracic disease 2020 12 12 (11): 6806-6812. Erhart Philipp, Gieldon Laura, Ante Marius, Körfer Daniel, Strom Tim, Grond-Ginsbach Caspar, Böckler Dittm |
| Cerebrovascular Disease Progression in Patients With ACTA2 Arg179 Pathogenic Variants. Neurology 2020 11 96 (4): e538-e552. Lauer Arne, Speroni Samantha L, Patel Jay B, Regalado Ellen, Choi Myoung, Smith Edward, Kalpathy-Kramer Jayashree, Caruso Paul, Milewicz Dianna M, Musolino Patricia |
| 99-Case Study of Sporadic Aortic Dissection by Whole Exome Sequencing Indicated Novel Disease-Associated Genes and Variants in Chinese Population. BioMed research international 2020 2020 7857043. Wang Zanxin, Zhuang Xianmian, Chen Bailang, Wen Junmin, Peng Fang, Liu Xiling, Wei Minx |
| First Report: Rare RNF213 Variant Associated with Familial Moyamoya Disease in an African American Family. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2021 10 30 (12): 106123. Sunmonu N Abimbola, Ambati Naveen Kumar, Thomas Matthew J, Ulep Robin D, Worrall Bradfo |
| Comparative Risks of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease. Journal of the American College of Cardiology 2022 Aug 80 (9): 857-869. Regalado Ellen S, Morris Shaine A, Braverman Alan C, Hostetler Ellen M, De Backer Julie, Li Ruosha, Pyeritz Reed E, Yetman Anji T, Cervi Elena, Shalhub Sherene, Jeremy Richmond, LeMaire Scott, Ouzounian Maral, Evangelista Arturo, Boileau Catherine, Jondeau Guillaume, Milewicz Dianna |
| A highly penetrant ACTA2 mutation of thoracic aortic disease. Journal of cardiothoracic surgery 2023 12 18 (1): 352. Christopher M Bobba, Ryan Azarrafiy, John R Spratt, Jill Hendrickson, Tomas D Martin, George J Arnaoutakis, Eric I Jeng, Thomas M Beav |
| Markers of extracellular matrix remodeling and systemic inflammation in patients with heritable thoracic aortic diseases. Frontiers in cardiovascular medicine 2023 1 9 1073069. Seim Bjørn Edvard, Holt Margrethe Flesvig, Ratajska Aleksandra, Michelsen Annika, Ringseth Monica Myklebust, Halvorsen Bente Evy, Skjelland Mona, Kvitting John-Peder Escobar, Lundblad Runar, Krohg-Sørensen Kirsten, Osnes Liv T N, Aukrust Pål, Paus Benedicte, Ueland Th |
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