Literature DB >> 30565988

Functional Annotation of TNNT2 Variants of Uncertain Significance With Genome-Edited Cardiomyocytes.

Wenjian Lv1, Lyon Qiao1, Nataliya Petrenko1, Wenjun Li1, Anjali T Owens1, Chris McDermott-Roe1, Kiran Musunuru1.   

Abstract

Entities:  

Keywords:  cardiomyocyte; cardiomyopathy; gene mutation; genetics; genome editing; stem cell

Mesh：

Substances：

Year:  2018        PMID： 30565988      PMCID： PMC6309910          DOI： 10.1161/CIRCULATIONAHA.118.035028

Source DB:  PubMed          Journal:  Circulation        ISSN： 0009-7322            Impact factor:   29.690


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  5 in total

1.  Genetic Misdiagnoses and the Potential for Health Disparities.

Authors:  Arjun K Manrai; Birgit H Funke; Heidi L Rehm; Morten S Olesen; Bradley A Maron; Peter Szolovits; David M Margulies; Joseph Loscalzo; Isaac S Kohane
Journal:  N Engl J Med       Date:  2016-08-18       Impact factor: 91.245

2.  Epigenetic Regulation of Phosphodiesterases 2A and 3A Underlies Compromised β-Adrenergic Signaling in an iPSC Model of Dilated Cardiomyopathy.

Authors:  Haodi Wu; Jaecheol Lee; Ludovic G Vincent; Qingtong Wang; Mingxia Gu; Feng Lan; Jared M Churko; Karim I Sallam; Elena Matsa; Arun Sharma; Joseph D Gold; Adam J Engler; Yang K Xiang; Donald M Bers; Joseph C Wu
Journal:  Cell Stem Cell       Date:  2015-06-18       Impact factor: 24.633

3.  Knock-in mouse model of dilated cardiomyopathy caused by troponin mutation.

Authors:  Cheng-Kun Du; Sachio Morimoto; Kiyomasa Nishii; Reiko Minakami; Mika Ohta; Naoto Tadano; Qun-Wei Lu; Yuan-Yuan Wang; Dong-Yun Zhan; Misato Mochizuki; Satomi Kita; Yoshikazu Miwa; Fumi Takahashi-Yanaga; Takahiro Iwamoto; Iwao Ohtsuki; Toshiyuki Sasaguri
Journal:  Circ Res       Date:  2007-06-07       Impact factor: 17.367

4.  Determining the Pathogenicity of a Genomic Variant of Uncertain Significance Using CRISPR/Cas9 and Human-Induced Pluripotent Stem Cells.

Authors:  Ning Ma; Joe Z Zhang; Ilanit Itzhaki; Sophia L Zhang; Haodong Chen; Francois Haddad; Tomoya Kitani; Kitchener D Wilson; Lei Tian; Rajani Shrestha; Haodi Wu; Chi Keung Lam; Nazish Sayed; Joseph C Wu
Journal:  Circulation       Date:  2018-12-04       Impact factor: 29.690

5.  DICE, an efficient system for iterative genomic editing in human pluripotent stem cells.

Authors:  Fangfang Zhu; Matthew Gamboa; Alfonso P Farruggio; Simon Hippenmeyer; Bosiljka Tasic; Birgitt Schüle; Yanru Chen-Tsai; Michele P Calos
Journal:  Nucleic Acids Res       Date:  2013-12-04       Impact factor: 16.971
  5 in total
  13 in total

1.  Arrhythmogenic cardiomyopathy: in search of unifying genetic theory.

Authors:  Jacob A Hoffman; Rishi Arora
Journal:  Cardiovasc Res       Date:  2019-03-15       Impact factor: 10.787

Review 2.  Genetics of dilated cardiomyopathy: practical implications for heart failure management.

Authors:  Andrew N Rosenbaum; Katherine E Agre; Naveen L Pereira
Journal:  Nat Rev Cardiol       Date:  2019-10-11       Impact factor: 32.419

3.  Investigation of a dilated cardiomyopathy-associated variant in BAG3 using genome-edited iPSC-derived cardiomyocytes.

Authors:  Chris McDermott-Roe; Wenjian Lv; Tania Maximova; Shogo Wada; John Bukowy; Maribel Marquez; Shuping Lai; Amarda Shehu; Ivor Benjamin; Aron Geurts; Kiran Musunuru
Journal:  JCI Insight       Date:  2019-11-14

4.  Patient-independent human induced pluripotent stem cell model: A new tool for rapid determination of genetic variant pathogenicity in long QT syndrome.

Authors:  Nikhil V Chavali; Dmytro O Kryshtal; Shan S Parikh; Lili Wang; Andrew M Glazer; Daniel J Blackwell; Brett M Kroncke; Moore Benjamin Shoemaker; Bjorn C Knollmann
Journal:  Heart Rhythm       Date:  2019-04-18       Impact factor: 6.343

Review 5.  Promise and Peril of Population Genomics for the Development of Genome-First Approaches in Mendelian Cardiovascular Disease.

Authors:  Victoria N Parikh
Journal:  Circ Genom Precis Med       Date:  2021-02-01

Review 6.  Deciphering pathogenicity of variants of uncertain significance with CRISPR-edited iPSCs.

Authors:  Hongchao Guo; Lichao Liu; Masataka Nishiga; Le Cong; Joseph C Wu
Journal:  Trends Genet       Date:  2021-09-08       Impact factor: 11.639

Review 7.  Genetics of Anthracycline-Associated Cardiotoxicity.

Authors:  Talal Khalid Al-Otaibi; Benjamin Weitzman; Usman A Tahir; Aarti Asnani
Journal:  Front Cardiovasc Med       Date:  2022-04-21

Review 8.  Modeling Cardiovascular Diseases with hiPSC-Derived Cardiomyocytes in 2D and 3D Cultures.

Authors:  Claudia Sacchetto; Libero Vitiello; Leon J de Windt; Alessandra Rampazzo; Martina Calore
Journal:  Int J Mol Sci       Date:  2020-05-11       Impact factor: 5.923

9.  hiPSC-Derived Cardiomyocyte Model of LQT2 Syndrome Derived from Asymptomatic and Symptomatic Mutation Carriers Reproduces Clinical Differences in Aggregates but Not in Single Cells.

Authors:  Disheet Shah; Chandra Prajapati; Kirsi Penttinen; Reeja Maria Cherian; Jussi T Koivumäki; Anna Alexanova; Jari Hyttinen; Katriina Aalto-Setälä
Journal:  Cells       Date:  2020-05-07       Impact factor: 6.600

Review 10.  Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing?

Authors:  Francesco Mazzarotto; Iacopo Olivotto; Beatrice Boschi; Francesca Girolami; Corrado Poggesi; Paul J R Barton; Roddy Walsh
Journal:  J Am Heart Assoc       Date:  2020-04-18       Impact factor: 5.501
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