DEVELOPMENT AND CHARACTERISATION OF A NOVEL KNOCK-IN MODEL OF PRKAG2 CARDIOMYOPATHY

DEVELOPMENT AND CHARACTERISATION OF A NOVEL KNOCK-IN MODEL OF PRKAG2 CARDIOMYOPATHY

Xehetasun bibliografikoak
Egile Nagusiak:	Yavari, A, Pinter, K, Ashrafian, H, Redwood, C, Watkins, H
Formatua:	Conference item
Argitaratua:	2009

Antzeko izenburuak

P387Knock-in mouse model of PRKAG2 cardiomyopathy (R299Q) exhibits altered Ca2+-dependent cardiac contractility and reduced protein kinase A activity.
nork: Turtle, C, et al.
Argitaratua: (2014)

Characterisation of a novel gene-targeted model for PRKAG2 disease
nork: Yavari, A
Argitaratua: (2013)

Inherited cardiomyopathies.
nork: Watkins, H, et al.
Argitaratua: (2011)

Inherited cardiomyopathies.
nork: Watkins, H, et al.
Argitaratua: (2011)

Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutation
nork: Jing Zhang, et al.
Argitaratua: (2022-10-01)

Cardiomiopatia PRKAG2
nork: Eduardo Back Sternick
Argitaratua: (2022-11-01)

Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion.
nork: Ashrafian, H, et al.
Argitaratua: (2003)

Differential diagnosis of PRKAG2 Cardiac syndrome in hypertrophic cardiomyopathy patients of han nationality
nork: Xue-Jie Li, et al.
Argitaratua: (2021-01-01)

Cardiac manifestations of PRKAG2 mutation
nork: Pooya Banankhah, et al.
Argitaratua: (2018-01-01)

PRKAG2 and PRKAG3 genes in patients with Wolff-Parkinson-White syndrome: a literature review
nork: Yu. A. Tolstokorova, et al.
Argitaratua: (2023-11-01)

Abnormal expression of PRKAG2-AS1 in endothelial cells induced inflammation and apoptosis by reducing PRKAG2 expression
nork: Xiao-Wei Song, et al.
Argitaratua: (2024-06-01)

Abnormal expression of PRKAG2-AS results in dysfunction of cardiomyocytes through regulating PRKAG2 transcription by interacting with PPARG
nork: Xiao-Wei Song, et al.
Argitaratua: (2023-11-01)

Cardiomyopathies
nork: Chan, K, et al.
Argitaratua: (2018)

Inherited cardiomyopathies
nork: Harper, A, et al.
Argitaratua: (2014)

Inherited cardiomyopathies
nork: Harper, A, et al.
Argitaratua: (2014)

Integrative Analysis of PRKAG2 Cardiomyopathy iPS and Microtissue Models Identifies AMPK as a Regulator of Metabolism, Survival, and Fibrosis
nork: J. Travis Hinson, et al.
Argitaratua: (2016-12-01)

Integrative Analysis of PRKAG2 Cardiomyopathy iPS and Microtissue Models Identifies AMPK as a Regulator of Metabolism, Survival, and Fibrosis
nork: J. Travis Hinson, et al.
Argitaratua: (2017-06-01)

Disease pathways and novel therapeutic targets in hypertrophic cardiomyopathy.
nork: Ashrafian, H, et al.
Argitaratua: (2011)

Generation of two iPSC lines from hypertrophic cardiomyopathy patients carrying MYBPC3 and PRKAG2 variants
nork: Amit Manhas, et al.
Argitaratua: (2022-05-01)

Myocardial dysfunction in hypertrophic cardiomyopathy.
nork: Ashrafian, H, et al.
Argitaratua: (2001)

Focando no Ventrículo Direito na Síndrome PRKAG2
nork: Luís Rocha Lopes
Argitaratua: (2022-12-01)

PRKAG2 syndrome, a rare hypertrophic cardiomyopathy: a Brazilian long-term follow-up with extracardiac disorders
nork: Lenises de Paula van der Steld, et al.
Argitaratua: (2024-07-01)

Metabolic perturbations in the pathogenesis of hypertrophic cardiomyopathy
nork: Ashrafian, H, et al.
Argitaratua: (2005)

Genetic cardiomyopathies causing heart failure.
nork: Cahill, T, et al.
Argitaratua: (2013)

Delineating the role of adenosine monophosphate (AMP)-activated protein kinase (AMP) gamma 2 subunit in hypertrophic cardiomyopathy (HCM)
nork: Grignani, R, et al.
Argitaratua: (2005)

Echocardiographic characteristics of PRKAG2 syndrome: a research using three-dimensional speckle tracking echocardiography compared with sarcomeric hypertrophic cardiomyopathy
nork: Lu Tang, et al.
Argitaratua: (2022-05-01)

Ascertainment strategies and genotype:phenotype correlations in hypertrophic cardiomyopathy.
nork: Blair, E, et al.
Argitaratua: (2003)

Exercise-induced ventricular dysfunction in hypertrophic cardiomyopathy: stunning by any other name?
nork: Ashrafian, H, et al.
Argitaratua: (2008)

The genetics of hypertrophic cardiomyopathy: Teare redux.
nork: Watkins, H, et al.
Argitaratua: (2008)

Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy.
nork: Elliott, K, et al.
Argitaratua: (2000)

Controversial molecular functions of CBS versus non‐CBS domain variants of PRKAG2 in arrhythmia and cardiomyopathy: A case report and literature review
nork: Xue Gong, et al.
Argitaratua: (2022-07-01)

A novel PRKAG2 mutation in a Chinese family with cardiac hypertrophy and ventricular pre-excitation
nork: Kun-Qi Yang, et al.
Argitaratua: (2017-05-01)

Identification of novel single nucleotide polymorphisms in the PRKAG3 gene of Pakistani river buffalo
nork: W. A. Khan, et al.
Argitaratua: (2019-09-01)

Novel PRKAG2 variant presenting as liver cirrhosis: report of a family with 2 cases and review of literature
nork: Zahra Beyzaei, et al.
Argitaratua: (2021-01-01)

Embryonic expression of AMPK γ subunits and the identification of a novel γ2 transcript variant in adult heart
nork: Pinter, K, et al.
Argitaratua: (2012)

Embryonic expression of AMPK γ subunits and the identification of a novel γ2 transcript variant in adult heart.
nork: Pinter, K, et al.
Argitaratua: (2012)

Altered inhibitory and troponin C-binding activities in cardiac troponin I mutants known to cause hypertrophic cardiomyopathy
nork: Elliott, K, et al.
Argitaratua: (2000)

PRKAG2 mutation: An easily missed cardiac specific non-lysosomal glycogenosis
nork: Varun Aggarwal, et al.
Argitaratua: (2015-01-01)

Identification and functional analysis of cardiac troponin I as a novel disease gene in autosomal dominant familial dilated cardiomyopathy
nork: Carballo, S, et al.
Argitaratua: (2006)

Reviews of translational medicine and genomics in cardiovascular disease: new disease taxonomy and therapeutic implications cardiomyopathies: therapeutics based on molecular phenotype.
nork: Ashrafian, H, et al.
Argitaratua: (2007)