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View article: Altered endoplasmic reticulum calcium loading in human PLN-R14del cardiomyopathy
Altered endoplasmic reticulum calcium loading in human PLN-R14del cardiomyopathy Open
The phospholamban (PLN) R14del genetic variant causes dilated cardiomyopathy. Previous studies suggest involvement of the ER stress response and impairment of ER-related signaling pathways such as autophagy. In this study, human-induced pl…
View article: Chronic Activation of Tubulin Tyrosination Improves Heart Function
Chronic Activation of Tubulin Tyrosination Improves Heart Function Open
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is the most common cardiac genetic disorder caused by sarcomeric gene variants and associated with left ventricular hypertrophy and diastolic dysfunction. The role of the microtubule network ha…
View article: An efficient AAV vector system of Rec2 serotype for intravenous injection to study metabolism in brown adipocytes in vivo
An efficient AAV vector system of Rec2 serotype for intravenous injection to study metabolism in brown adipocytes in vivo Open
Taken together, we describe a novel brown adipocyte-specific rAAV method to express proteins for loss-of-function and gain-of-function metabolic studies. The approach will enable researchers to access brown fat swiftly, reduce animal breed…
View article: Chronic activation of tubulin tyrosination in HCM mice and in human iPSC-engineered heart tissues improves heart function
Chronic activation of tubulin tyrosination in HCM mice and in human iPSC-engineered heart tissues improves heart function Open
Rationale Hypertrophic cardiomyopathy (HCM) is the most common cardiac genetic disorder caused by sarcomeric gene variants and associated with left ventricular (LV) hypertrophy and diastolic dysfunction. The role of the microtubule network…
View article: Supplementary Figure Legends from Cetuximab Resistance in Head and Neck Cancer Is Mediated by EGFR-K<sub>521</sub> Polymorphism
Supplementary Figure Legends from Cetuximab Resistance in Head and Neck Cancer Is Mediated by EGFR-K<sub>521</sub> Polymorphism Open
Supplementary Figure 1. Inhibitory effect of Cetuximab determined by western blot analysis of 12 HNSCC cell line lysates. Supplementary Figure 2. Time course of EGFR phosphorylation in HNSCC cell line UT-SCC 8. Supplementary Figure 3. Corr…
View article: Data from Cetuximab Resistance in Head and Neck Cancer Is Mediated by EGFR-K<sub>521</sub> Polymorphism
Data from Cetuximab Resistance in Head and Neck Cancer Is Mediated by EGFR-K<sub>521</sub> Polymorphism Open
Head and neck squamous cell carcinomas (HNSCC) exhibiting resistance to the EGFR-targeting drug cetuximab poses a challenge to their effective clinical management. Here, we report a specific mechanism of resistance in this setting based up…
View article: Supplementary Table 1 and 2 from Cetuximab Resistance in Head and Neck Cancer Is Mediated by EGFR-K<sub>521</sub> Polymorphism
Supplementary Table 1 and 2 from Cetuximab Resistance in Head and Neck Cancer Is Mediated by EGFR-K<sub>521</sub> Polymorphism Open
Supplementary Table 1 Patient characteristics including EGFRK521 allele frequency. Supplementary Table 2 Characteristics and sequencing data of squamous cell carcinoma cell lines.
View article: Supplementary Table 1 and 2 from Cetuximab Resistance in Head and Neck Cancer Is Mediated by EGFR-K<sub>521</sub> Polymorphism
Supplementary Table 1 and 2 from Cetuximab Resistance in Head and Neck Cancer Is Mediated by EGFR-K<sub>521</sub> Polymorphism Open
Supplementary Table 1 Patient characteristics including EGFRK521 allele frequency. Supplementary Table 2 Characteristics and sequencing data of squamous cell carcinoma cell lines.
View article: Data from Cetuximab Resistance in Head and Neck Cancer Is Mediated by EGFR-K<sub>521</sub> Polymorphism
Data from Cetuximab Resistance in Head and Neck Cancer Is Mediated by EGFR-K<sub>521</sub> Polymorphism Open
Head and neck squamous cell carcinomas (HNSCC) exhibiting resistance to the EGFR-targeting drug cetuximab poses a challenge to their effective clinical management. Here, we report a specific mechanism of resistance in this setting based up…
View article: Supplemental Figures 1 to 6 from Cetuximab Resistance in Head and Neck Cancer Is Mediated by EGFR-K<sub>521</sub> Polymorphism
Supplemental Figures 1 to 6 from Cetuximab Resistance in Head and Neck Cancer Is Mediated by EGFR-K<sub>521</sub> Polymorphism Open
Supplemental Figures 1 to 6 from Cetuximab Resistance in Head and Neck Cancer Is Mediated by EGFR-K521 Polymorphism
View article: Supplemental Figures 1 to 6 from Cetuximab Resistance in Head and Neck Cancer Is Mediated by EGFR-K<sub>521</sub> Polymorphism
Supplemental Figures 1 to 6 from Cetuximab Resistance in Head and Neck Cancer Is Mediated by EGFR-K<sub>521</sub> Polymorphism Open
Supplemental Figures 1 to 6 from Cetuximab Resistance in Head and Neck Cancer Is Mediated by EGFR-K521 Polymorphism
View article: Supplementary Figure Legends from Cetuximab Resistance in Head and Neck Cancer Is Mediated by EGFR-K<sub>521</sub> Polymorphism
Supplementary Figure Legends from Cetuximab Resistance in Head and Neck Cancer Is Mediated by EGFR-K<sub>521</sub> Polymorphism Open
Supplementary Figure 1. Inhibitory effect of Cetuximab determined by western blot analysis of 12 HNSCC cell line lysates. Supplementary Figure 2. Time course of EGFR phosphorylation in HNSCC cell line UT-SCC 8. Supplementary Figure 3. Corr…
View article: ACTN2 Mutant Causes Proteopathy in Human iPSC-Derived Cardiomyocytes
ACTN2 Mutant Causes Proteopathy in Human iPSC-Derived Cardiomyocytes Open
Genetic variants in α-actinin-2 (ACTN2) are associated with several forms of (cardio)myopathy. We previously reported a heterozygous missense (c.740C>T) ACTN2 gene variant, associated with hypertrophic cardiomyopathy, and characterized by …
View article: An Improved Model of Moderate Sleep Apnoea for Investigating Its Effect as a Comorbidity on Neurodegenerative Disease
An Improved Model of Moderate Sleep Apnoea for Investigating Its Effect as a Comorbidity on Neurodegenerative Disease Open
Sleep apnoea is a highly prevalent disease that often goes undetected and is associated with poor clinical prognosis, especially as it exacerbates many different disease states. However, most animal models of sleep apnoea (e.g., intermitte…
View article: Author response: Analyzing the brainstem circuits for respiratory chemosensitivity in freely moving mice
Author response: Analyzing the brainstem circuits for respiratory chemosensitivity in freely moving mice Open
Article Figures and data Abstract Editor's evaluation Introduction Results Discussion Materials and methods Data availability References Decision letter Author response Article and author information Metrics Abstract Regulation of systemic…
View article: Intravitreal gene therapy restores the autophagy-lysosomal pathway and attenuates retinal degeneration in cathepsin D-deficient mice
Intravitreal gene therapy restores the autophagy-lysosomal pathway and attenuates retinal degeneration in cathepsin D-deficient mice Open
Loss of vision due to progressive retinal degeneration is a hallmark of neuronal ceroid lipofuscinoses (NCL), a group of fatal neurodegenerative lysosomal storage diseases. Enzyme substitution therapies represent promising treatment option…
View article: <i>ACTN2</i>mutant causes proteopathy in human iPSC-derived cardiomyocytes
<i>ACTN2</i>mutant causes proteopathy in human iPSC-derived cardiomyocytes Open
Genetic variants in α-actinin-2 (ACTN2) are associated with several forms of (cardio)myopathy. We previously reported a heterozygous missense (c.740C>T) ACTN2 gene variant, associated with hypertrophic cardiomyopathy, and characterized by …
View article: A new physiologically realistic and clinically relevant model of sleep apnoea for investigating it’s effect as a comorbidity on neurodegenerative disease
A new physiologically realistic and clinically relevant model of sleep apnoea for investigating it’s effect as a comorbidity on neurodegenerative disease Open
Sleep apnoea is a highly prevalent disease but often goes undetected and is associated with poor clinical prognoses when combined with many different disease states. However, most animal models of sleep apnoea (e.g., intermittent hypoxia) …
View article: Impairment of the ER/mitochondria compartment in human cardiomyocytes with PLN p.Arg14del mutation
Impairment of the ER/mitochondria compartment in human cardiomyocytes with PLN p.Arg14del mutation Open
The phospholamban (PLN) p.Arg14del mutation causes dilated cardiomyopathy, with the molecular disease mechanisms incompletely understood. Patient dermal fibroblasts were reprogrammed to hiPSC, isogenic controls were established by CRISPR/C…
View article: Endogenous Fatty Acid Synthesis Drives Brown Adipose Tissue Involution
Endogenous Fatty Acid Synthesis Drives Brown Adipose Tissue Involution Open
Thermoneutral conditions typical for standard human living environments result in brown adipose tissue (BAT) involution, characterized by decreased mitochondrial mass and increased lipid deposition. Low BAT activity is associated with poor…
View article: Intermittent Optogenetic Tachypacing of Atrial Engineered Heart Tissue Induces Only Limited Electrical Remodelling
Intermittent Optogenetic Tachypacing of Atrial Engineered Heart Tissue Induces Only Limited Electrical Remodelling Open
Atrial tachypacing is an accepted model for atrial fibrillation (AF) in large animals and in cellular models. Human induced pluripotent stem cells-derived cardiomyocytes (hiPSC-CM) provide a novel human source to model cardiovascular disea…
View article: A novel approach to genetic engineering of T-cell subsets by hematopoietic stem cell infection with a bicistronic lentivirus
A novel approach to genetic engineering of T-cell subsets by hematopoietic stem cell infection with a bicistronic lentivirus Open
Lentiviral modification of hematopoietic stem cells (HSCs) paved the way for in vivo experimentation and therapeutic approaches in patients with genetic disease. A disadvantage of this method is the use of a ubiquitous promoter leads not o…
View article: Force and Calcium Transients Analysis in Human Engineered Heart Tissues Reveals Positive Force-Frequency Relation at Physiological Frequency
Force and Calcium Transients Analysis in Human Engineered Heart Tissues Reveals Positive Force-Frequency Relation at Physiological Frequency Open
Force measurements in ex vivo and engineered heart tissues are well established. Analysis of calcium transients (CaT) is complementary to force, and the combined analysis is meaningful to the study of cardiomyocyte biology and disease. Thi…
View article: Chronic intermittent tachypacing by an optogenetic approach induces arrhythmia vulnerability in human engineered heart tissue
Chronic intermittent tachypacing by an optogenetic approach induces arrhythmia vulnerability in human engineered heart tissue Open
Aims Chronic tachypacing is commonly used in animals to induce cardiac dysfunction and to study mechanisms of heart failure and arrhythmogenesis. Human induced pluripotent stem cells (hiPSC) may replace animal models to overcome species di…
View article: Human serum substitution by artificial sera of scalable allergen reactivity based on polyclonal antibodies and chimeras of human FcγRI and IgE domains
Human serum substitution by artificial sera of scalable allergen reactivity based on polyclonal antibodies and chimeras of human FcγRI and IgE domains Open
Human sera are the first choice as controls for diagnostic applications such as immunoassays, but are limited regarding availability, varying quality, and high costs. In this study, we aimed to circumvent these limitations by the use of a …