|
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 |
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 |
|
CARDIOMYOPATHY, DILATED, 1P
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
|
30681346 |
2019 |
|
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 |
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 |
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 |
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 |
Biomarker
|
group |
CLINGEN |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
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 |
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 |
|
CARDIOMYOPATHY, DILATED, 1P
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Potential new mechanisms of pro-arrhythmia in arrhythmogenic cardiomyopathy: focus on calcium sensitive pathways.
|
28102477 |
2017 |
|
CARDIOMYOPATHY, DILATED, 1P
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
CARDIOMYOPATHY, DILATED, 1P
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Phospholamban p.Arg14del cardiomyopathy is characterized by phospholamban aggregates, aggresomes, and autophagic degradation.
|
26970417 |
2016 |
|
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 |
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 |
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 |
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 |
|
CARDIOMYOPATHY, DILATED, 1P
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
|
25611685 |
2015 |
|
CARDIOMYOPATHY, DILATED, 1P
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genetic modifiers to the PLN L39X mutation in a patient with DCM and sustained ventricular tachycardia?
|
26535225 |
2015 |
|
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 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 |
CausalMutation
|
group |
CLINVAR |
Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.
|
23785128 |
2013 |
|
CARDIOMYOPATHY, DILATED, 1P
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Recurrent and founder mutations in the Netherlands-Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy.
|
23568436 |
2013 |
|
Cardiomyopathies
|
0.700 |
CausalMutation
|
group |
CLINVAR |
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.
|
22820313 |
2012 |