Literature DB >> 26729852

Clinical Spectrum of PRKAG2 Syndrome.

Andrea Giuseppe Porto1, Francesca Brun1, Giovanni Maria Severini2, Pasquale Losurdo1, Enrico Fabris1, Matthew R G Taylor3, Luisa Mestroni3, Gianfranco Sinagra1.   

Abstract

Entities:  

Keywords:  Wolff-Parkinson-White syndrome; atrioventricular block; cardiomyopathy, hypertrophic; death, sudden, cardiac; defibrillators, implantable

Mesh：

Substances：

Year:  2016        PMID： 26729852      PMCID： PMC4704128          DOI： 10.1161/CIRCEP.115.003121

Source DB:  PubMed          Journal:  Circ Arrhythm Electrophysiol        ISSN： 1941-3084


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  45 in total

1.  A familial form of conduction defect related to a mutation in the PRKAG2 gene.

Authors:  Philippe Charron; Marc Genest; Pascale Richard; Michel Komajda; Gilbert Pochmalicki
Journal:  Europace       Date:  2007-05-04       Impact factor: 5.214

2.  Familial pseudo-Wolff-Parkinson-White syndrome.

Authors:  Eduardo Back Sternick; Antonio Oliva; Luiz P Magalhães; Luiz M Gerken; Kui Hong; Oto Santana; Pedro Brugada; Josep Brugada; Ramon Brugada
Journal:  J Cardiovasc Electrophysiol       Date:  2006-07

3.  Increased alpha2 subunit-associated AMPK activity and PRKAG2 cardiomyopathy.

Authors:  Ferhaan Ahmad; Michael Arad; Nicolas Musi; Huamei He; Cordula Wolf; Dorothy Branco; Antonio R Perez-Atayde; David Stapleton; Deeksha Bali; Yanqiu Xing; Rong Tian; Laurie J Goodyear; Charles I Berul; Joanne S Ingwall; Christine E Seidman; J G Seidman
Journal:  Circulation       Date:  2005-11-07       Impact factor: 29.690

4.  Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: natural history.

Authors:  Ross T Murphy; Jens Mogensen; Kate McGarry; Ajay Bahl; Alison Evans; Eyman Osman; Petros Syrris; Grainne Gorman; Michael Farrell; Janice L Holton; Michael G Hanna; Sian Hughes; Perry M Elliott; Calum A Macrae; William J McKenna
Journal:  J Am Coll Cardiol       Date:  2005-03-15       Impact factor: 24.094

5.  Supraventricular tachyarrhythmia as a cause of sudden cardiac arrest.

Authors:  B Brembilla-Perrot; O Marçon; F Chometon; J Bertrand; A Terrier de la Chaise; P Louis; H Belhakem; H Blangy; O Claudon; O Selton; E Khaldi; N Sadoul; D Beurrier; M Abbas; M Andronache; M Abbas; N Zhang
Journal:  J Interv Card Electrophysiol       Date:  2006-11-14       Impact factor: 1.900

6.  Ventricular pre-excitation and cardiac hypertrophy mimicking hypertrophic cardiomyopathy in a Turkish family with a novel PRKAG2 mutation.

Authors:  Fatih Bayrak; Evrim Komurcu-Bayrak; Bulent Mutlu; Gokhan Kahveci; Yelda Basaran; Nihan Erginel-Unaltuna
Journal:  Eur J Heart Fail       Date:  2006-05-22       Impact factor: 15.534

7.  AMPK-mediated increase in myocardial long-chain fatty acid uptake critically depends on sarcolemmal CD36.

Authors:  Daphna D J Habets; Will A Coumans; Peter J Voshol; Marion A M den Boer; Maria Febbraio; Arend Bonen; Jan F C Glatz; Joost J F P Luiken
Journal:  Biochem Biophys Res Commun       Date:  2007-02-02       Impact factor: 3.575

8.  A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis.

Authors:  Pascal Laforêt; Pascale Richard; Mina Ait Said; Norma Beatriz Romero; Emmanuelle Lacene; Jean-Paul Leroy; Christiane Baussan; Jean-Yves Hogrel; Thomas Lavergne; Karim Wahbi; Bernard Hainque; Denis Duboc
Journal:  Neuromuscul Disord       Date:  2006-02-17       Impact factor: 4.296

9.  Shared genetic causes of cardiac hypertrophy in children and adults.

Authors:  Hiroyuki Morita; Heidi L Rehm; Andres Menesses; Barbara McDonough; Amy E Roberts; Raju Kucherlapati; Jeffrey A Towbin; J G Seidman; Christine E Seidman
Journal:  N Engl J Med       Date:  2008-04-09       Impact factor: 91.245

10.  Identification of a novel de novo mutation associated with PRKAG2 cardiac syndrome and early onset of heart failure.

Authors:  Yang Liu; Rong Bai; Lin Wang; Cuntai Zhang; Ruifu Zhao; Deli Wan; Xinshan Chen; Gabriel Caceres; Daniel Barr; Hector Barajas-Martinez; Charles Antzelevitch; Dan Hu
Journal:  PLoS One       Date:  2013-05-31       Impact factor: 3.240
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  25 in total

1.  Infantile Onset Hypertrophic Cardiomyopathy Secondary to PRKAG2 Gene Mutation is Associated with Poor Prognosis.

Authors:  Sudheer R Gorla; Kishore R Raja; Ashish Garg; Deborah S Barbouth; Paolo G Rusconi
Journal:  J Pediatr Genet       Date:  2018-06-02

Review 2.  Genetic Infiltrative Cardiomyopathies.

Authors:  Mary E Sweet; Luisa Mestroni; Matthew R G Taylor
Journal:  Heart Fail Clin       Date:  2018-04       Impact factor: 3.179

3.  AKT-mTOR signaling-mediated rescue of PRKAG2 R302Q mutant-induced familial hypertrophic cardiomyopathy by treatment with β-adrenergic receptor (β-AR) blocker metoprolol.

Authors:  Jian Zhuo; Haihua Geng; Xiaohui Wu; Mengkang Fan; Hongzhuan Sheng; Jian Yao
Journal:  Cardiovasc Diagn Ther       Date:  2022-06

4.  Altered Enhancer and Promoter Usage Leads to Differential Gene Expression in the Normal and Failed Human Heart.

Authors:  Anthony M Gacita; Lisa Dellefave-Castillo; Patrick G T Page; David Y Barefield; J Andrew Wasserstrom; Megan J Puckelwartz; Marcelo A Nobrega; Elizabeth M McNally
Journal:  Circ Heart Fail       Date:  2020-09-30       Impact factor: 8.790

5.  A novel PRKAG2 mutation in a Chinese family with cardiac hypertrophy and ventricular pre-excitation.

Authors:  Kun-Qi Yang; Chao-Xia Lu; Ying Zhang; Yan-Kun Yang; Jia-Cheng Li; Tian Lan; Xu Meng; Peng Fan; Tao Tian; Lin-Ping Wang; Ya-Xin Liu; Xue Zhang; Xian-Liang Zhou
Journal:  Sci Rep       Date:  2017-05-25       Impact factor: 4.379

Review 6.  Adenosine Monophosphate (AMP)-Activated Protein Kinase: A New Target for Nutraceutical Compounds.

Authors:  Fabiola Marín-Aguilar; Luis E Pavillard; Francesca Giampieri; Pedro Bullón; Mario D Cordero
Journal:  Int J Mol Sci       Date:  2017-01-29       Impact factor: 5.923

Review 7.  Storage diseases with hypertrophic cardiomyopathy phenotype.

Authors:  Luis Ruiz-Guerrero; Roberto Barriales-Villa
Journal:  Glob Cardiol Sci Pract       Date:  2018-08-12

8.  Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene: Warning for chlorpheniramine prescription.

Authors:  Giuseppe Di Stolfo; Maria Accadia; Sandra Mastroianno; Maria P Leone; Orazio Palumbo; Pietro Palumbo; Domenico Potenza; Pasquale Maccarone; Michele Sacco; Aldo Russo; Massimo Carella
Journal:  Mol Genet Genomic Med       Date:  2019-07-25       Impact factor: 2.183

Review 9.  Hypertrophic Cardiomyopathy and Primary Restrictive Cardiomyopathy: Similarities, Differences and Phenocopies.

Authors:  Riccardo Vio; Annalisa Angelini; Cristina Basso; Alberto Cipriani; Alessandro Zorzi; Paola Melacini; Gaetano Thiene; Alessandra Rampazzo; Domenico Corrado; Chiara Calore
Journal:  J Clin Med       Date:  2021-05-01       Impact factor: 4.241

10.  A Two-Stage Study Identifies Two Novel Polymorphisms in PRKAG2 Affecting Metformin Response in Chinese Type 2 Diabetes Patients.

Authors:  Di Xiao; Jun-Yan Liu; Si-Min Zhang; Rang-Ru Liu; Ji-Ye Yin; Xue-Yao Han; Xi Li; Wei Zhang; Xiao-Ping Chen; Hong-Hao Zhou; Li-Nong Ji; Zhao-Qian Liu
Journal:  Pharmgenomics Pers Med       Date:  2021-06-23
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