Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 42 Records) |
Query Trace: DSG2[original query] |
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Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome. PloS one 2015 10 (7): e0133037. Allegue Catarina, Coll Mònica, Mates Jesus, Campuzano Oscar, Iglesias Anna, Sobrino Beatriz, Brion Maria, Amigo Jorge, Carracedo Angel, Brugada Pedro, Brugada Josep, Brugada Ram |
Epilepsy-related sudden unexpected death: targeted molecular analysis of inherited heart disease genes using next-generation DNA sequencing. Brain pathology (Zurich, Switzerland) 2016 May . Hata Yukiko, Yoshida Koji, Kinoshita Koshi, Nishida Nao |
Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia. PloS one 2017 8 12 (8): e0181840. Fedida Joel, Fressart Veronique, Charron Philippe, Surget Elodie, Hery Tiphaine, Richard Pascale, Donal Erwan, Keren Boris, Duthoit Guillaume, Hidden-Lucet Françoise, Villard Eric, Gandjbakhch Estel |
Association and interaction effects of Alzheimer's disease-associated genes and lifestyle on cognitive aging in older adults in a Taiwanese population. Oncotarget 2017 Feb . Lin Eugene, Tsai Shih-Jen, Kuo Po-Hsiu, Liu Yu-Li, Yang Albert C, Kao Chung-Fe |
Alzheimer's Disease-Related Polymorphisms in Shunt-Responsive Idiopathic Normal Pressure Hydrocephalus. Journal of Alzheimer's disease : JAD 2017 60 (3): 1077-1085. Huovinen Joel, Helisalmi Seppo, Paananen Jussi, Laiterä Tiina, Kojoukhova Maria, Sutela Anna, Vanninen Ritva, Laitinen Marjo, Rauramaa Tuomas, Koivisto Anne M, Remes Anne M, Soininen Hilkka, Kurki Mitja, Haapasalo Annakaisa, Jääskeläinen Juha E, Hiltunen Mikko, Leinonen Vil |
An autoantibody identifies arrhythmogenic right ventricular cardiomyopathy and participates in its pathogenesis. European heart journal 2018 Sep . Chatterjee Diptendu, Fatah Meena, Akdis Deniz, Spears Danna A, Koopmann Tamara T, Mittal Kirti, Rafiq Muhammad A, Cattanach Bruce M, Zhao Qili, Healey Jeff S, Ackerman Michael J, Bos Johan Martijn, Sun Yu, Maynes Jason T, Brunckhorst Corinna, Medeiros-Domingo Argelia, Duru Firat, Saguner Ardan M, Hamilton Robert |
Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database. European journal of human genetics : EJHG 2018 5 26 (9): 1312-1318. Hall Charlotte L, Sutanto Henry, Dalageorgou Chrysoula, McKenna William John, Syrris Petros, Futema Mar |
Involvement of human monogenic cardiomyopathy genes in experimental polygenic cardiac hypertrophy. Physiological genomics 2018 5 50 (9): 680-687. Prestes P R, Marques F Z, Lopez-Campos G, Lewandowski P, Delbridge L M D, Charchar F J, Harrap S |
Genetic variants in post myocardial infarction patients presenting with electrical storm of unstable ventricular tachycardia. Indian pacing and electrophysiology journal 2018 2 18 (3): 91-94. Rangaraju Advithi, Krishnan Shuba, Aparna G, Sankaran Satish, Mannan Ashraf U, Rao B Hygr |
PKP2 and DSG2 genetic variations in Latvian arrhythmogenic right ventricular dysplasia/cardiomyopathy registry patients. Anatolian journal of cardiology 2018 11 20 (5): 296-302. Bidina Luize, Kupics Kaspars, Sokolova Emma, Pavlovics Mihails, Dobele Zane, Caunite Laima, Kalejs Oskars, Gailite Lin |
A founder homozygous DSG2 variant in East Asia results in ARVC with full penetrance and heart failure phenotype. International journal of cardiology 2018 11 274 263-270. Chen Liang, Rao Man, Chen Xiao, Chen Kai, Ren Jie, Zhang Ningning, Zhao Qian, Yu Wenhua, Yuan Bin, Song Jiangpi |
Translating Alzheimer's disease-associated polymorphisms into functional candidates: a survey of IGAP genes and SNPs. Neurobiology of aging 2018 11 74 135-146. Katsumata Yuriko, Nelson Peter T, Estus Steven, , Fardo David |
Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo. Circulation. Genomic and precision medicine 2019 8 12 (8): e002467. van Lint Freyja H M, Murray Brittney, Tichnell Crystal, Zwart Rob, Amat Nuria, Lekanne Deprez Ronald H, Dittmann Sven, Stallmeyer Birgit, Calkins Hugh, van der Smagt Jasper J, van den Wijngaard Arthur, Dooijes Dennis, van der Zwaag Paul A, Schulze-Bahr Eric, Judge Daniel P, Jongbloed Jan D H, van Tintelen J Peter, James Cynthia |
A common indel polymorphism of the Desmoglein-2 (DSG2) is associated with sudden cardiac death in Chinese populations. Forensic science international 2019 Jun 301 382-387. Zou Yan, Zhang Qing, Zhang Jianhua, Chen Xuekun, Zhou Wei, Yang Zhenzhen, Yang Qi, Yu Huan, Li Lijuan, He Yan, Li Chengtao, Zhang Suhua, Zhu Shaohua, Luo Bin, Gao Yuzh |
Rare non-coding Desmoglein-2 variant contributes to Arrhythmogenic right ventricular cardiomyopathy. Journal of molecular and cellular cardiology 2019 5 131 164-170. Christensen Alex Hørby, Andersen Claus B, Wassilew Katharina, Svendsen Jesper Hastrup, Bundgaard Henning, Brand Stefan-Martin, Schmitz Bor |
Minimal inflammatory foci of unknown etiology may be a tentative sign of early stage inherited cardiomyopathy. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2019 4 32 (9): 1281-1290. Hata Yukiko, Hirono Keiichi, Yamaguchi Yoshiaki, Ichida Fukiko, Oku Yuko, Nishida Nao |
Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation. Molecular genetics & genomic medicine 2019 4 7 (6): e593. Headrick Andrew T, Rosenfeld Jill A, Yang Yaping, Tunuguntla Hari, Allen Hugh D, Penny Daniel J, Kim Jeffrey J, Landstrom Andrew |
High risk of heart failure associated with desmoglein-2 mutations compared to plakophilin-2 mutations in arrhythmogenic right ventricular cardiomyopathy/dysplasia. European journal of heart failure 2019 Feb . Hermida Alexis, Fressart Véronique, Hidden-Lucet Francoise, Donal Erwan, Probst Vincent, Deharo Jean-Claude, Chevalier Philippe, Klug Didier, Mansencal Nicolas, Delacretaz Etienne, Cosnay Pierre, Scanu Patrice, Extramiana Fabrice, Keller Dagmar I, Rouanet Stephanie, Charron Philippe, Gandjbakhch Estel |
Distal myopathy induced arrhythmogenic right ventricular cardiomyopathy in a pedigree carrying novel DSG2 null variant. International journal of cardiology 2019 10 298 25-31. Chen Peng, Li Zongzhe, Yu Bo, Ma Fei, Li Xianqing, Wang Dao W |
Genetic associations of in vivo pathology influence Alzheimer's disease susceptibility. Alzheimer's research & therapy 2020 11 12 (1): 156. Seo Jieun, Byun Min Soo, Yi Dahyun, Lee Jun Ho, Jeon So Yeon, Shin Seong A, Kim Yu Kyeong, Kang Koung Mi, Sohn Chul-Ho, Jung Gijung, Park Jong-Chan, Han Sun-Ho, Byun Jayoung, Mook-Jung Inhee, Lee Dong Young, Choi Murim, |
Deleterious Rare Desmosomal Variants Contribute to Hypertrophic Cardiomyopathy and Are Associated With Distinctive Clinical Features. The Canadian journal of cardiology 2021 Sep . Wu Guixin, Liu Jie, Ruan Jieyun, Yu Shiqin, Wang Limei, Zhao Shihua, Wang Shuiyun, Kang Lianming, Wang Jizheng, Song L |
Genotype-phenotype correlation in arrhythmogenic right ventricular cardiomyopathy-risk of arrhythmias and heart failure. Journal of medical genetics 2021 8 59 (9): 858-864. Christensen Alex Hørby, Platonov Pyotr G, Jensen Henrik Kjærulf, Chivulescu Monica, Svensson Anneli, Dahlberg Pia, Madsen Trine, Frederiksen Tanja Charlotte, Heliö Tiina, Lie Øyvind Haugen, Haugaa Kristina H, Hastrup Svendsen Jesper, Bundgaard Henni |
Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy to Sport Restriction. Frontiers in cardiovascular medicine 2021 6 8 635141. Leone Maria Pia, Palumbo Pietro, Saenen Johan, Mastroianno Sandra, Castellana Stefano, Amico Cesare, Mazza Tommaso, Potenza Domenico Rosario, Petracca Antonio, Castori Marco, Carella Massimo, Di Stolfo Giusep |
Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes. PeerJ 2021 2 9 e10711. Guelly Christian, Abilova Zhannur, Nuralinov Omirbek, Panzitt Katrin, Akhmetova Ainur, Rakhimova Saule, Kozhamkulov Ulan, Kairov Ulykbek, Molkenov Askhat, Seisenova Ainur, Trajanoski Slave, Abildinova Rashbayeva Gulzhaina, Kaussova Galina, Windpassinger Christian, Lee Joseph H, Zhumadilov Zhaxybay, Bekbossynova Makhabbat, Akilzhanova Ain |
Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population. Human genome variation 2022 8 9 (1): 28. Murakami Haruka, Tanimoto Yoko, Tanimoto Kojiro, Inoue Satomi, Ishikawa Taisuke, Makita Naomasa, Yamazawa Kazu |
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insights for molecular diagnosis and clinical management. Human mutation 2022 7 43 (9): 1333-1342. Goudal Adeline, Karakachoff Matilde, Lindenbaum Pierre, Baron Estelle, Bonnaud Stéphanie, Kyndt Florence, Arnaud Marine, Minois Damien, Bourcereau Emmanuelle, Thollet Aurélie, Deleuze Jean-François, Genin Emmanuelle, Wiart François, Pasquié Jean-Luc, Galand Vincent, Sacher Frédéric, Dina Christian, Redon Richard, Bezieau Stéphane, Schott Jean-Jacques, Probst Vincent, Barc Juli |
Association of Circulating Cathepsin B Levels With Blood Pressure and Aortic Dilation. Frontiers in cardiovascular medicine 2022 4 9 762468. Chai Tianci, Tian Mengyue, Yang Xiaojie, Qiu Zhihuang, Lin Xinjian, Chen Liangw |
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy. NPJ genomic medicine 2022 3 7 (1): 18. Lesurf Robert, Said Abdelrahman, Akinrinade Oyediran, Breckpot Jeroen, Delfosse Kathleen, Liu Ting, Yao Roderick, Persad Gabrielle, McKenna Fintan, Noche Ramil R, Oliveros Winona, Mattioli Kaia, Shah Shreya, Miron Anastasia, Yang Qian, Meng Guoliang, Yue Michelle Chan Seng, Sung Wilson W L, Thiruvahindrapuram Bhooma, Lougheed Jane, Oechslin Erwin, Mondal Tapas, Bergin Lynn, Smythe John, Jayappa Shashank, Rao Vinay J, Shenthar Jayaprakash, Dhandapany Perundurai S, Semsarian Christopher, Weintraub Robert G, Bagnall Richard D, Ingles Jodie, , Melé Marta, Maass Philipp G, Ellis James, Scherer Stephen W, Mital See |
Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel. Orphanet journal of rare diseases 2022 10 17 (1): 394. Chen Jia, Li Hong, Guo Sicheng, Yang Zhe, Sun Shaoping, Zeng JunJie, Gou Hongjuan, Chen Yechang, Wang Feng, Lin Yanping, Huang Kun, Yue Hong, Ma Yuting, Lin Yu |
Development and Validation of a Prognosis-Prediction Signature for Patients with Lung Adenocarcinoma Based on 11 Telomere-Related Genes. Frontiers in bioscience (Landmark edition) 2023 11 28 (10): 254. Jia Liu, Sha Sha, Jian Wang, Xiaowei Gu, Menghua Du, Xu |
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- Page last updated:Apr 16, 2024
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