|
Cardiomyopathy, Familial Idiopathic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To assess therapeutic potential, we used a hiPSC-CM model of dilated cardiomyopathy (DCM) containing PLB mutation R14del, where we observed that rAAV2-driven expression of PLB<sub>M</sub> rescues arrhythmic Ca<sup>2+</sup> transients and alleviates decreased Ca<sup>2+</sup> transport.
|
31751570 |
2020 |
|
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 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
|
30681346 |
2019 |
|
Atrial Fibrillation
|
0.450 |
AlteredExpression
|
disease |
BEFREE |
Compared with the control group, the ibrutinib group showed (1) a higher incidence and longer duration of AF with transesophageal burst stimulation; (2) increased left atrial mass, as indicated by echocardiography; (3) significant myocardial fibrosis in the left atrium on Masson trichrome staining; (4) Ca<sup>2+</sup> handling disorders in atrial myocytes, such as reduced Ca<sup>2+</sup> transient amplitude, enhanced spontaneous Ca<sup>2+</sup> release, and reduced sarcoplasmic Ca<sup>2+</sup> capacity; (5) enhanced delayed afterdepolarization in atrial myocytes; and (6) increased CaMKII expression and phosphorylation of RyR2-Ser2814 and PLN-Thr17.
|
30959203 |
2019 |
|
Atrial Fibrillation
|
0.450 |
Biomarker
|
disease |
BEFREE |
We tested the hypothesis that reduced PPP1R3A levels contribute to AF pathogenesis by reducing PP1 binding to both RyR2 and PLN.
|
31185731 |
2019 |
|
Atrial Fibrillation
|
0.450 |
Biomarker
|
disease |
BEFREE |
Atrial rhythm instability caused by Tbx5 haploinsufficiency was rescued by a decreased dose of phospholamban, a sarco/endoplasmic reticulum Ca2+-ATPase inhibitor, consistent with a role for decreased sarcoplasmic reticulum calcium flux in Tbx5-dependent AF susceptibility.
|
31609246 |
2019 |
|
Congestive heart failure
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In this work, we have designed and synthesized an aptamer-based near-infrared fluorescence nanoprobe for fluorescence imaging of phospholamban (PLN), which is an intracellular micropeptide that affects calcium homeostasis, and is closely associated with human heart failure in the clinic.
|
30777430 |
2019 |
|
Congestive heart failure
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variants in human phospholamban coding gene (PLN) are known to cause hereditary dilated cardiomyopathy with heart failure in an autosomal dominant mode.
|
30638982 |
2019 |
|
Congestive heart failure
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The p.Arg14del founder mutation in the gene encoding phospholamban (PLN) is associated with an increased risk of malignant ventricular arrhythmia (VA) and heart failure.
|
29635323 |
2019 |
|
Familial dilated cardiomyopathy
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
Causative mutations for familial dilated cardiomyopathy (DCM) have been identified in the phospholamban gene.
|
30794913 |
2019 |
|
Heart failure
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variants in human phospholamban coding gene (PLN) are known to cause hereditary dilated cardiomyopathy with heart failure in an autosomal dominant mode.
|
30638982 |
2019 |
|
Heart failure
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
In this work, we have designed and synthesized an aptamer-based near-infrared fluorescence nanoprobe for fluorescence imaging of phospholamban (PLN), which is an intracellular micropeptide that affects calcium homeostasis, and is closely associated with human heart failure in the clinic.
|
30777430 |
2019 |
|
Heart failure
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
The p.Arg14del founder mutation in the gene encoding phospholamban (PLN) is associated with an increased risk of malignant ventricular arrhythmia (VA) and heart failure.
|
29635323 |
2019 |
|
Cardiomyopathy, Dilated
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Pathogenic variants in human phospholamban coding gene (PLN) are known to cause hereditary dilated cardiomyopathy with heart failure in an autosomal dominant mode.
|
30638982 |
2019 |
|
Hypertrophic Cardiomyopathy
|
0.180 |
Biomarker
|
disease |
BEFREE |
Scoring by "diagnostic effectiveness" highlighted that PLN should also be routinely screened besides historically validated genes for HCM and its mimics.
|
29875424 |
2019 |
|
Ventricular arrhythmia
|
0.160 |
GeneticVariation
|
disease |
BEFREE |
This study sought to investigate ventricular function, the extent and localization of myocardial fibrosis and the associations with ECG features and VA in PLN p.Arg14del mutation carriers.
|
29635323 |
2019 |
|
Cardiomyopathy, Familial Idiopathic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Causative mutations for familial dilated cardiomyopathy (DCM) have been identified in the phospholamban gene.
|
30794913 |
2019 |
|
Cardiac Arrhythmia
|
0.040 |
GeneticVariation
|
phenotype |
BEFREE |
Upon cardiac I/R, WT, and S2814D hearts exhibited abundant arrhythmias that were prevented by PLN ablation.
|
30169578 |
2019 |
|
Cardiac Arrhythmia
|
0.040 |
GeneticVariation
|
phenotype |
BEFREE |
The deletion of Arginine 14 of the phosholamban gene (PLN p.R14del) is associated with the pathogenesis of an inherited form of cardiomyopathy with prominent arrhythmias.
|
31513489 |
2019 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Patients carrying the PLN R14del mutation are at risk of developing dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy.
|
31513489 |
2019 |
|
Idiopathic pulmonary arterial hypertension
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
The expression of phospholamban (PLB) and tumor necrosis factor-α (TNF-α) significantly increased and the expression of SERCA2a significantly decreased in PAH rats after LPS administration.
|
29251561 |
2019 |
|
Epilepsy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In the years 2014-2016, the total direct cost of epilepsy amounted to, respectively, 355 mln PLN (84 mln EUR), 368 mln PLN (87 mln EUR), and 373 mln PLN (88 mln EUR), but the total indirect cost amounted to 1 bn PLN (239 mln EUR), 949 mln PLN (224 mln EUR), and 848 mln PLN (200 mln EUR).
|
30293466 |
2019 |
|
Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
The modulation of tumor PD-L1 by flavonoids or polyphenols is proposed to improve the response to PLB in low PD-L1 tumors.
|
31783532 |
2019 |