Literature DB >> 27471098

Mutation in JPH2 cause dilated cardiomyopathy.

M Sabater-Molina1, M Navarro2, E García-Molina Sáez3, I Garrido2, D Pascual-Figal2, J González Carrillo2, J R Gimeno Blanes3,2.   

Abstract

Entities:  

Keywords:  JPH2; SCN5A; dilated cardiomyopathy; family disease; mutation

Mesh：

Substances：

Year:  2016        PMID： 27471098     DOI： 10.1111/cge.12825

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  12 in total

1.  Junctophilin-2 gene therapy rescues heart failure by normalizing RyR2-mediated Ca2+ release.

Authors:  Julia O Reynolds; Ann P Quick; Qiongling Wang; David L Beavers; Leonne E Philippen; Jordan Showell; Giselle Barreto-Torres; Donna J Thuerauf; Shirin Doroudgar; Christopher C Glembotski; Xander H T Wehrens
Journal:  Int J Cardiol       Date:  2016-10-08       Impact factor: 4.164

Review 2.  The role of junctophilin proteins in cellular function.

Authors:  Stephan E Lehnart; Xander H T Wehrens
Journal:  Physiol Rev       Date:  2022-01-10       Impact factor: 37.312

Review 3.  One gene, two modes of inheritance, four diseases: A systematic review of the cardiac manifestation of pathogenic variants in JPH2-encoded junctophilin-2.

Authors:  Lauren E Parker; Ryan J Kramer; Samantha Kaplan; Andrew P Landstrom
Journal:  Trends Cardiovasc Med       Date:  2021-12-01       Impact factor: 8.049

4.  The clinical utility of pediatric cardiomyopathy genetic testing: From diagnosis to a precision medicine-based approach to care.

Authors:  Lauren E Parker; Andrew P Landstrom
Journal:  Prog Pediatr Cardiol       Date:  2021-07-01

Review 5.  Detecting Cardiovascular Protein-Protein Interactions by Proximity Proteomics.

Authors:  Jared S Kushner; Guoxia Liu; Robyn J Eisert; Gary A Bradshaw; Geoffrey S Pitt; J Travis Hinson; Marian Kalocsay; Steven O Marx
Journal:  Circ Res       Date:  2022-01-20       Impact factor: 17.367

Review 6.  Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies.

Authors:  Roddy Walsh; Joost A Offerhaus; Rafik Tadros; Connie R Bezzina
Journal:  Nat Rev Cardiol       Date:  2021-09-15       Impact factor: 32.419

7.  ZBTB17 loss-of-function mutation contributes to familial dilated cardiomyopathy.

Authors:  Yu-Min Sun; Jun Wang; Ying-Jia Xu; Xin-Hua Wang; Fang Yuan; Hua Liu; Ruo-Gu Li; Min Zhang; Yan-Jie Li; Hong-Yu Shi; Liang Zhao; Xing-Biao Qiu; Xin-Kai Qu; Yi-Qing Yang
Journal:  Heart Vessels       Date:  2018-02-14       Impact factor: 1.814

8.  The Drosophila junctophilin gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch pathway.

Authors:  Eduardo Calpena; Víctor López Del Amo; Mouli Chakraborty; Beatriz Llamusí; Rubén Artero; Carmen Espinós; Máximo I Galindo
Journal:  Dis Model Mech       Date:  2018-01-17       Impact factor: 5.758

9.  Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.

Authors:  Sari U M Vanninen; Krista Leivo; Eija H Seppälä; Katriina Aalto-Setälä; Olli Pitkänen; Piia Suursalmi; Antti-Pekka Annala; Ismo Anttila; Tero-Pekka Alastalo; Samuel Myllykangas; Tiina M Heliö; Juha W Koskenvuo
Journal:  PLoS One       Date:  2018-09-20       Impact factor: 3.240

10.  Genome-Wide Analysis Reveals Extensive Changes in LncRNAs during Skeletal Muscle Development in Hu Sheep.

Authors:  Caifang Ren; Mingtian Deng; Yixuan Fan; Hua Yang; Guomin Zhang; Xu Feng; Fengzhe Li; Dan Wang; Feng Wang; Yanli Zhang
Journal:  Genes (Basel)       Date:  2017-08-01       Impact factor: 4.096
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