Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 30 Records) |
| Query Trace: Disease and TPM1[original query] |
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| Hypertrophic cardiomyopathy caused by a novel alpha-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling, and poor prognosis. Circulation 2001 1 103 (1): 65-71. Karibe A, Tobacman L S, Strand J, Butters C, Back N, Bachinski L L, Arai A E, Ortiz A, Roberts R, Homsher E, Fananapazir |
| Shared genetic causes of cardiac hypertrophy in children and adults. The New England journal of medicine 2008 May 358 (18): 1899-908. Morita Hiroyuki, Rehm Heidi L, Menesses Andres, McDonough Barbara, Roberts Amy E, Kucherlapati Raju, Towbin Jeffrey A, Seidman J G, Seidman Christine |
| Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives. Human mutation 2009 Mar 30 (3): 363-70. Andersen Paal Skytt, Havndrup Ole, Hougs Lotte, Sørensen Karina M, Jensen Morten, Larsen Lars Allan, Hedley Paula, Thomsen Alex Rojas Bie, Moolman-Smook Johanna, Christiansen Michael, Bundgaard Henni |
| The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. European journal of human genetics : EJHG 2009 Oct 17 (10): 1241-9. Møller Daniel Vega, Andersen Paal Skytt, Hedley Paula, Ersbøll Mads Kristian, Bundgaard Henning, Moolman-Smook Johanna, Christiansen Michael, Køber La |
| Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. Circulation. Cardiovascular genetics 2009 Oct 2 (5): 436-41. Kaski Juan Pablo, Syrris Petros, Esteban Maria Teresa Tome, Jenkins Sharon, Pantazis Antonios, Deanfield John E, McKenna William J, Elliott Perry |
| Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. Journal of the American College of Cardiology 2010 Apr 55 (14): 1444-53. Girolami Francesca, Ho Carolyn Y, Semsarian Christopher, Baldi Massimo, Will Melissa L, Baldini Katia, Torricelli Francesca, Yeates Laura, Cecchi Franco, Ackerman Michael J, Olivotto Iaco |
| Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. Circulation. Cardiovascular genetics 2010 Apr 3 (2): 155-61. Hershberger Ray E, Norton Nadine, Morales Ana, Li Duanxiang, Siegfried Jill D, Gonzalez-Quintana Jor |
| Polymorphisms in the tropomyosin TPM1 short isoform promoter alter gene expression and are associated with increased risk of metabolic syndrome. American journal of hypertension 2010 Apr 23 (4): 399-404. Savill Stuart A, Leitch Helen F, Daly Ann K, Harvey John N, Thomas Trevor |
| Genetic testing for dilated cardiomyopathy in clinical practice. Journal of cardiac failure 2012 Apr 18 (4): 296-303. Lakdawala Neal K, Funke Birgit H, Baxter Samantha, Cirino Allison L, Roberts Amy E, Judge Daniel P, Johnson Nicole, Mendelsohn Nancy J, Morel Chantal, Care Melanie, Chung Wendy K, Jones Carolyn, Psychogios Apostolos, Duffy Elizabeth, Rehm Heidi L, White Emily, Seidman J G, Seidman Christine E, Ho Carolyn |
| Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy. Circulation journal : official journal of the Japanese Circulation Society 2013 77 (9): 2358-65. Núñez Lucía, Gimeno-Blanes Juan Ramón, Rodríguez-García María Isabel, Monserrat Lorenzo, Zorio Esther, Coats Caroline, McGregor Christopher G, Hernandez del Rincón Juan Pedro, Castro-Beiras Alfonso, Hermida-Prieto Manu |
| Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. European journal of heart failure 2013 Jan . van Spaendonck-Zwarts KY, van Rijsingen IA, van den Berg MP, Lekanne Deprez RH, Post JG, van Mil AM, Asselbergs FW, Christiaans I, van Langen IM, Wilde AA, de Boer RA, Jongbloed JD, Pinto YM, van Tintelen JP |
| 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 |
| Significance of sarcomere gene mutation in patients with dilated cardiomyopathy. Genetics and molecular research : GMR 2015 14 (3): 11200-10. Li Y D, Ji Y T, Zhou X H, Li H L, Zhang H T, Zhang Y, Li J X, Xing Q, Zhang J H, Hong Y F, Tang B |
| 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 |
| 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 |
| Coexistence of Digenic Mutations in Both Thin (TPM1) and Thick (MYH7) Filaments of Sarcomeric Genes Leads to Severe Hypertrophic Cardiomyopathy in a South Indian FHCM. DNA and cell biology 2015 May 34 (5): 350-9. Selvi Rani Deepa, Nallari Pratibha, Dhandapany Perundurai S, Rani Jhansi, Meraj Khunza, Ganesan Mala, Narasimhan Calambur, Thangaraj Kumarasa |
| Inflammatory Adipokines Decrease Expression of Two High Molecular Weight Isoforms of Tropomyosin Similar to the Change in Type 2 Diabetic Patients. PloS one 2016 11 (9): e0162908. Savill Stuart A, Leitch Helen F, Harvey John N, Thomas Trevor |
| 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 genetic modifiers of age-at-onset for familial Parkinson's disease.
Human molecular genetics 2016 Sep 25 (17): 3849-3862. Hill-Burns Erin M, Ross Owen A, Wissemann William T, Soto-Ortolaza Alexandra I, Zareparsi Sepideh, Siuda Joanna, Lynch Timothy, Wszolek Zbigniew K, Silburn Peter A, Mellick George D, Ritz Beate, Scherzer Clemens R, Zabetian Cyrus P, Factor Stewart A, Breheny Patrick J, Payami Hayd |
| 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 |
| Presence of Hypertrophic Cardiomyopathy Related Gene Mutations and Clinical Manifestations in Vietnamese Patients With Hypertrophic Cardiomyopathy. Circulation journal : official journal of the Japanese Circulation Society 2019 Jul . Tran Vu Minh Thu, Nguyen Thuy Vy, Huynh Nha Van, Nguyen Thai Hoang Tam, Pham Nguyen Vinh, Ho Huynh Thuy Duo |
| Yield of Rare Variants Detected by Targeted Next-Generation Sequencing in a Cohort of Romanian Index Patients with Hypertrophic Cardiomyopathy. Diagnostics (Basel, Switzerland) 2020 Dec 10 (12): . Micheu Miruna Mihaela, Popa-Fotea Nicoleta-Monica, Oprescu Nicoleta, Bogdan Stefan, Dan Monica, Deaconu Alexandru, Dorobantu Lucian, Gheorghe-Fronea Oana, Greavu Maria, Iorgulescu Corneliu, Scafa-Udriste Alexandru, Ticulescu Razvan, Vatasescu Radu Gabriel, Doroban?u Mar |
| 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 |
| Sarcomeric gene variants among Indians with hypertrophic cardiomyopathy: A scoping review. The Indian journal of medical research 2023 10 158 (2): 119-135. Linda Koshy, Sanjay Ganapathi, Panniyammakal Jeemon, M Madhuma, Y Vysakh, L R Lakshmikanth, Sivadasanpillai Harikrishn |
| Exome-Wide Association Study Identified Clusters of Pleiotropic Genetic Associations with Alzheimer's Disease and Thirteen Cardiovascular Traits. Genes 2023 10 14 (10): . Yury Loika, Elena Loiko, Irina Culminskaya, Alexander M Kulmins |
| Natural history and clinical outcomes of patients with hypertrophic cardiomyopathy from thin filament mutations. ESC heart failure 2024 5 . Tatiana Saul, Quan M Bui, Alessia Argiro, Lucas Keyt, Iacopo Olivotto, Eric Adl |
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