Human Genome Epidemiology Literature Finder
Records 1 - 14 (of 14 Records) |
Query Trace: Disease and ACTC1[original query] |
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Polymorphism in the alpha cardiac muscle actin 1 gene is associated to susceptibility to chronic inflammatory cardiomyopathy. PloS one 2013 8 (12): e83446. Frade Amanda Farage, Teixeira Priscila Camilo, Ianni Barbara Maria, Pissetti Cristina Wide, Saba Bruno, Wang Lin Hui Tzu, Kuramoto Andréia, Nogueira Luciana Gabriel, Buck Paula, Dias Fabrício, Giniaux Helene, Llored Agnes, Alves Sthefanny, Schmidt Andre, Donadi Eduardo, Marin-Neto José Antonio, Hirata Mario, Sampaio Marcelo, Fragata Abílio, Bocchi Edimar Alcides, Stolf Antonio Noedir, Fiorelli Alfredo Inacio, Santos Ronaldo Honorato Barros, Rodrigues Virmondes, Pereira Alexandre Costa, Kalil Jorge, Cunha-Neto Edecio, Chevillard Christop |
A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction. Heart and vessels 2015 Mar 30 (2): 258-64. Tian Tao, Wang Jizheng, Wang Hu, Sun Kai, Wang Yilu, Jia Lei, Zou Yubao, Hui Rutai, Zhou Xianliang, Song L |
Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk group. Clinica chimica acta; international journal of clinical chemistry 2015 Jun 446 132-40. Glotov Andrey S, Kazakov Sergey V, Zhukova Elena A, Alexandrov Anton V, Glotov Oleg S, Pakin Vladimir S, Danilova Maria M, Poliakova Irina V, Niyazova Svetlana S, Chakova Natalia N, Komissarova Svetlana M, Kurnikova Elena A, Sarana Andrey M, Sherbak Sergey G, Sergushichev Alexey A, Shalyto Anatoly A, Baranov Vladislav |
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 |
Targeted next-generation sequencing of candidate genes reveals novel mutations in patients with dilated cardiomyopathy. International journal of molecular medicine 2015 Oct . Zhao Yue, Feng Yue, Zhang Yun-Mei, Ding Xiao-Xue, Song Yu-Zhu, Zhang A-Mei, Liu Li, Zhang Hong, Ding Jia-Huan, Xia Xue-Sh |
Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy. American journal of medical genetics. Part A 2016 Sep . Ploski Rafal, Rydzanicz Malgorzata, Ksiazczyk Tomasz M, Franaszczyk Maria, Pollak Agnieszka, Kosinska Joanna, Michalak Ewa, Stawinski Piotr, Ziolkowska Lidia, Bilinska Zofia T, Werner Boze |
Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients. Genetic testing and molecular biomarkers 2016 Nov 20 (11): 674-679. Jaafar Nawel, Gómez Juan, Kammoun Ikram, Zairi Ihsen, Amara Wael Ben, Kachboura Salem, Kraiem Sondes, Hammami Mohamed, Iglesias Sara, Alonso Belén, Coto Eliec |
Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system. International journal of molecular medicine 2016 Apr . Zhao Yue, Cao Hong, Song Yindi, Feng Yue, Ding Xiaoxue, Pang Mingjie, Zhang Yunmei, Zhang Hong, Ding Jiahuan, Xia Xuesh |
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy. PloS one 2017 12 (8): e0181465. Mademont-Soler Irene, Mates Jesus, Yotti Raquel, Espinosa Maria Angeles, Pérez-Serra Alexandra, Fernandez-Avila Ana Isabel, Coll Monica, Méndez Irene, Iglesias Anna, Del Olmo Bernat, Riuró Helena, Cuenca Sofía, Allegue Catarina, Campuzano Oscar, Picó Ferran, Ferrer-Costa Carles, Álvarez Patricia, Castillo Sergio, Garcia-Pavia Pablo, Gonzalez-Lopez Esther, Padron-Barthe Laura, Díaz de Bustamante Aranzazu, Darnaude María Teresa, González-Hevia José Ignacio, Brugada Josep, Fernandez-Aviles Francisco, Brugada Ram |
Sarcomere gene variants act as a genetic trigger underlying the development of left ventricular noncompaction. Pediatric research 2018 9 84 (5): 733-742. Takasaki Asami, Hirono Keiichi, Hata Yukiko, Wang Ce, Takeda Masafumi, Yamashita Jun K, Chang Bo, Nakaoka Hideyuki, Okabe Mako, Miyao Nariaki, Saito Kazuyoshi, Ibuki Keijiro, Ozawa Sayaka, Sekine Michikazu, Yoshimura Naoki, Nishida Naoki, Bowles Neil E, Ichida Fuki |
Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion. Circulation 2018 5 138 (12): 1184-1194. Sheikh Nabeel, Papadakis Michael, Wilson Mathew, Malhotra Aneil, Adamuz Carmen, Homfray Tessa, Monserrat Lorenzo, Behr Elijah R, Sharma Sanj |
Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy. Journal of personalized medicine 2022 Apr 12 (5): . Kurzlechner Leonie M, Jones Edward G, Berkman Amy M, Tadros Hanna J, Rosenfeld Jill A, Yang Yaping, Tunuguntla Hari, Allen Hugh D, Kim Jeffrey J, Landstrom Andrew |
Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality. JAMA cardiology 2022 5 7 (7): 723-732. Patel Aniruddh P, Dron Jacqueline S, Wang Minxian, Pirruccello James P, Ng Kenney, Natarajan Pradeep, Lebo Matthew, Ellinor Patrick T, Aragam Krishna G, Khera Amit |
The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye. Anatolian journal of cardiology 2023 7 . Veysel Oktay, Omaç Tüfekçio?lu, Dilek Çicek Y?lmaz, Ersel Onrat, Dilay Karabulut, Murat Çelik, Akif Serhat Balc?o?lu, Mehmet Murat Sucu, Güllü Özdemir, Hakk? Kaya, Mehmet K??, Bar?? Güven, Oktay Ba?dato?lu, Fatma Nihan Turhan Ça?lar, Uygar Ça?da? Yüksel, ?rfan Veysel Düzen, Ahmet Barutçu, Özgüç Semih ?im?ir, ?brahim Ba?ar?c?, Af?in Parspur, Onur Dalg?ç, Fatma Özlem Ar?can Özlük, Mert Evlice, Saim Sa?, Muhammed Furkan Deniz, Arslan Öcal, Emine Gazi, Taner ?en, Osman Özdabako?lu, Nermin Bayar Çak?c?, Eren Ozan Bak?r, Ay?egül Ülgen Kunak, Gizem Çayl?, Aybike Gül Ta?delen, Ercan Ak?it, ?efika Uslu Çil, Hüseyin On |
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