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GenomicsR14del RNA-seq
R14del RNA-seq
PRJNA901405 | ENA
ProteomicsGene editing reverses arrhythmia susceptibility in humanized PLN-R14del mice: modeling a European cardiomyopathy with global impact
Aims: A mutation in the phospholamban (PLN) gene, leading to deletion of Arg14 (R14del), has been associated with malignant arrhythmias and ventricular dilation. Identifying pre-symptomatic carriers with vulnerable myocardium is crucial because arrhythmia can result in sudden cardiac death, especial...
ORGANISM(S): Mus musculus (Mouse) 
2023-03-11 | PXD031612 | Pride
Phospholamban Mouse model Tmt R14del Cardiomyopathy Lc-ms/ms 
TranscriptomicsR14del RNA-seq
Arrhythmogenic cardiomyopathy (ACM) is characterized by life-threatening ventricular arrhythmias and sudden cardiac death and affects hundreds of thousands of patients worldwide. The deletion of Arginine 14 (p.R14del) in the phospholamban (PLN) gene has been implicated in the pathogenesis of ACM. PL...
ORGANISM(S): Homo sapiens 
2022-11-22 | GSE217921 | GEO
GenomicsImpaired Right Ventricular Calcium Cycling Is an Early Risk 2 Factor in R14del-Phospholamban Arrhythmias
Impaired Right Ventricular Calcium Cycling Is an Early Risk 2 Factor in R14del-Phospholamban Arrhythmias
PRJNA726640 | ENA
UnknownMyofilament Alterations Associated with Human R14del-Phospholamban Cardiomyopathy.
Not available
S-EPMC9917359 | biostudies-literature
TranscriptomicsImpaired Right Ventricular Calcium Cycling Is an Early Risk 2 Factor in R14del-Phospholamban Arrhythmias 
We utilized humanized wild-type and R14 deletion (R14del) phospholamban (PLN) knock-in mice to determine the role of the inherited PLN-R14del on malignant right ventricular arrhythmias.
ORGANISM(S): Mus musculus 
2021-07-27 | GSE173684 | GEO
UnknownPhospholamban R14del disease: The past, the present and the future.
Not available
S-EPMC10151546 | biostudies-literature
TranscriptomicsCorrection of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy [RNA-Seq]
Phospholamban R14del mutazion (PLN-R14del) has been identified in a large family pedigree in which heterozygous carriers exhibited inherited dilated cardiomyopathy (DCM) and death by middle age. To better understand the causal link between the mutations in PLN and DCM pathology, we derived induced p...
ORGANISM(S): Homo sapiens 
2015-02-09 | E-GEOD-65761 | biostudies-arrayexpress
GenomicsCorrection of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy [Exome-Seq]
Phospholamban R14del mutazion (PLN-R14del) has been identified in a large family pedigree in which heterozygous carriers exhibited inherited dilated cardiomyopathy (DCM) and death by middle age. To better understand the causal link between the mutations in PLN and DCM pathology, we derived induced p...
ORGANISM(S): Homo sapiens 
2015-02-09 | E-GEOD-65762 | biostudies-arrayexpress
UnknownDilated cardiomyopathy variant R14del increases phospholamban pentamer stability, blunting dynamic regulation of calcium.
Not available
S-EPMC11791128 | biostudies-literature
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