|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Otherwise, mutations in the PLN gene are not a frequent cause of cardiomyopathies in our population.
|
16829191 |
2007 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Phospholamban p.Arg14del cardiomyopathy is characterized by a distinct molecular signature compared to desmosomal ACM, specifically a different desmosomal protein distribution.
|
30763825 |
2019 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy.
|
25923014 |
2015 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
No nucleotide change in the phospholamban coding region was found in 99 patients with cardiomyopathy.
|
12705874 |
2003 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
Sarco(endo)plasmic reticulum Ca<sup>2+</sup> ATPase and its regulatory protein phospholamban (PLN) are potential therapeutic targets for DMD cardiomyopathy owing to their key role in regulating intracellular Ca<sup>2+</sup> cycling.
|
30118340 |
2018 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Transgenic mice overexpressing the mutant PLN-R14Del recapitulated human cardiomyopathy exhibiting similar histopathologic abnormalities and premature death.
|
16432188 |
2006 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Phospholamban p.Arg14del cardiomyopathy is characterized by phospholamban aggregates, aggresomes, and autophagic degradation.
|
26970417 |
2016 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
We collected mortality data from mutation-positive subjects with either DPP6-associated idiopathic ventricular fibrillation, SCN5A overlap syndrome, and PLN-R14del-mediated arrhythmogenic cardiomyopathy >2 to 10 years of ongoing clinical/cascade genetic screening.
|
30354299 |
2018 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Our aim was to screen 315 patients with arrhythmogenic right ventricular cardiomyopathy (n = 111), DCM (n = 95), hypertrophic cardiomyopathy (n = 40) and peripartum cardiomyopathy (n = 69) for disease-causing PLN mutations by high resolution melt analysis and DNA sequencing.
|
26917049 |
2016 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
Studies with knockout and transgenic mice show that gain of inhibitory function of phospholamban alters cardiac contractility and could be a causal feature in some cardiomyopathies.
|
10951187 |
2000 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
Here, we focus on a subgroup of cardiomyopathy genes [TTN, FHL1, CSRP3, FLNC and PLN, coding for Titin, Four and a Half LIM domain 1, Muscle LIM Protein, Filamin C and Phospholamban, respectively], which, despite their diverse biological functions, all have important signalling functions in the heart, suggesting that disturbances in signalling networks can contribute to cardiomyopathies.
|
29119312 |
2017 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
Phospholamban (PLN) is a modest modulator of intracellular Ca2+ homeostasis and may be a candidate gene responsible for cardiomyopathy.
|
16382369 |
2005 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
To determine the cross-signaling between Ca2+ and cAMP pathways, the phosphorylation of Ser16-PLB and Thr17-PLB was studied at increasing stimulation frequencies as well as in the presence of beta-adrenergic stimulation in isolated ventricular trabeculae from failing (dilative cardiomyopathy, DCM, heart transplants, n=9) and non-failing human myocardium (donor hearts, NF, n=9).
|
14530977 |
2003 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.
|
22820313 |
2012 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
With the generous support of the Leducq Foundation, our Transatlantic Network of Excellence consortium to cure Phospholamban (PLN)-induced cardiomyopathy (CURE-PLaN) unites 6 leading centers to address the current challenges associated with arrhythmogenic right ventricular cardiomyopathy/dilated cardiomyopathy (DCM) with an initial focus on PLN and development of effective treatments.
|
31513489 |
2019 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations.
|
25928149 |
2015 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
The variant AF177763.1:g.203A>C (at position -36 bp relative to the PLN transcriptional start site) was found only in the heterozygous form in 1 out of 296 normal subjects and in 22 out of 381 cardiomyopathy patients (heart failure at age of 18-44 years, ejection fraction=22+/-9%).
|
18241046 |
2008 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
A naturally occurring R9C mutation of phospholamban (PLB) triggers cardiomyopathy and premature death by altering regulation of sarco/endoplasmic reticulum calcium-ATPase (SERCA).
|
25593317 |
2015 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
In this genetic cardiomyopathy cohort, PLN Immunohistochemical analysis in LVAD biopsies was found to be a highly sensitive (100%) and specific (95%) method for demonstration of PLN protein aggregates in PLN p.Arg14del cardiomyopathy.
|
28759816 |
2018 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
The pathogenic phospholamban R14del mutation causes dilated and arrhythmogenic right ventricular cardiomyopathies and is associated with an increased risk of malignant ventricular arrhythmias and end-stage heart failure.
|
24909667 |
2014 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
In the present study a comprehensive analysis was made of mediators of the βAR pathway, myofilament properties and cardiac structure in patients with idiopathic (IDCM; n = 13) and ischemic (ISHD; n = 10) cardiomyopathy in comparison to non-failing hearts (donor; n = 10) for the following parameters: βAR density, G-coupled receptor kinases 2 and 5, stimulatory and inhibitory G-proteins, phosphorylation of myofilament targets of PKA, protein phosphatase 1, phospholamban, SERCA2a and single myocyte contractility.
|
21132354 |
2010 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
In PLN p.Arg14del mutation associated cardiomyopathy, myocardial fibrosis is predominantly present in the left posterolateral wall and to a lesser extent in the right ventricular wall, whereas fatty changes are more pronounced in the right ventricular wall.
|
24732829 |
2014 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Four major procedures are discussed in this chapter: (1) preparation of hECTs from human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) on single-tissue and multitissue bioreactors; (2) data acquisition of hECT contractile function on both of these platforms; (3) hECT modeling of hereditary phospholamban-R14 deletion-dilated cardiomyopathy; and (4) cryo-injury and doxorubicin-induced hECT models of acquired cardiomyopathy.
|
29987817 |
2018 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Cardiomyopathies associated with lamin A/C (n = 5), sarcomeric (n = 8), and desmin (n = 3) mutations all showed a different pattern from that of the desmosomal and PLN mutation carriers.
|
28365402 |
2017 |
|
Cardiomyopathies
|
0.700 |
CausalMutation
|
group |
CLINVAR |
Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.
|
23785128 |
2013 |