Search Results - "LAUFER, D"
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Disease modeling of a mutation in α‐actinin 2 guides clinical therapy in hypertrophic cardiomyopathy
Published in EMBO molecular medicine (01-12-2019)“…Hypertrophic cardiomyopathy (HCM) is a cardiac genetic disease accompanied by structural and contractile alterations. We identified a rare c.740C>T (p.T247M)…”
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Cellular delivery of small interfering RNA by a non-covalently attached cell-penetrating peptide: quantitative analysis of uptake and biological effect
Published in Nucleic acids research (01-12-2006)“…Cell-penetrating peptides (CPPs) have evolved as promising new tools to deliver nucleic acids into cells. So far, the majority of these delivery systems…”
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3
MicroRNA-mediated regulation of gene expression is affected by disease-associated SNPs within the 3′-UTR via altered RNA structure
Published in RNA biology (01-06-2012)“…Single nucleotide polymorphisms (SNPs) in microRNAs (miRNAs) or their target sites (miR-SNPs) within the 3′-UTR of mRNAs are increasingly thought to play a…”
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4
Generation of a patient-specific hiPS cell line with heterozygous GNB2 mutation (UKMi003-A) causative for human sinus node dysfunction and a corresponding CRISPR/Cas9-corrected isogenic control (UKMi004-A)
Published in Stem cell research (01-08-2024)“…The heterozygous mutation c.155G > T in GNB2 clinically leads to sinus bradycardia and sinus node dysfunction. Here, patient-specific skin fibroblasts of the…”
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Evaluation of MYBPC3 trans-Splicing and Gene Replacement as Therapeutic Options in Human iPSC-Derived Cardiomyocytes
Published in Molecular therapy. Nucleic acids (16-06-2017)“…Gene therapy is a promising option for severe forms of genetic diseases. We previously provided evidence for the feasibility of trans-splicing, exon skipping,…”
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Recent developments in peptide-based nucleic acid delivery
Published in International Journal of Molecular Sciences (16-07-2008)“…Despite the fact that non-viral nucleic acid delivery systems are generally considered to be less efficient than viral vectors, they have gained much interest…”
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Oxytocin response to an experimental psychosocial challenge in adults exposed to traumatic experiences during childhood or adolescence
Published in Neuroscience (10-03-2010)“…Abstract Long-term implications of the exposure to traumatizing experiences during childhood or adolescence, such as sexual abuse, or cancer, have been…”
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8
Physioxia rewires mitochondrial complex composition to protect stem cell viability
Published in Redox biology (01-11-2024)“…Human induced pluripotent stem cells (hiPSCs) are an invaluable tool to study molecular mechanisms on a human background. Culturing stem cells at an oxygen…”
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Disease modeling of a mutation in α‐actinin 2 guides clinical therapy in hypertrophic cardiomyopathy
Published in EMBO molecular medicine (08-08-2022)Get full text
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10
Low-threshold SARS-CoV-2 testing facility for hospital staff: Prevention of COVID-19 outbreaks?
Published in International journal of hygiene and environmental health (01-01-2021)“…The ongoing global SARS-CoV-2 pandemic has caused over 4.7 million infections greatly challenging healthcare workers (HCW) and medical institutions worldwide…”
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Yield and nitrogen use efficiency of fodder and sugar beet (Beta vulgaris L.) in contrasting environments of northwestern Europe
Published in European journal of agronomy (01-02-2016)“…•Yield and nitrogen utilization efficiency is higher for sugar beet than fodder beet.•Increased yield is caused by a higher sucrose concentration in taproot…”
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Generation of bi-allelic MYBPC3 truncating mutant and isogenic control from an iPSC line of a patient with hypertrophic cardiomyopathy
Published in Stem cell research (01-08-2021)“…MYBPC3 is the most frequently affected gene in hypertrophic cardiomyopathy (HCM), which is an autosomal-dominant cardiac disease caused by mutations in…”
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13
Activity of comets at large heliocentric distances pre-perihelion
Published in Icarus (New York, N.Y. 1962) (01-06-2009)“…We present observational data for two long-period and three dynamically new comets observed at heliocentric distances between 5.8 to 14.0 AU. All of the comets…”
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016 Case report: Turner syndrome
Published in European journal of obstetrics & gynecology and reproductive biology (01-06-2022)Get full text
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15
Postlicensure evaluation of the effectiveness of seven valent pneumococcal conjugate vaccine
Published in The Pediatric infectious disease journal (01-12-2001)“…OBJECTIVE.To evaluate the impact of the introduction and routine use of seven valent pneumococcal conjugate vaccine on the epidemiology of invasive…”
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Chemical composition of simulated Titan's midatmospheric aerosols
Published in Journal of Geophysical Research: Planets (01-07-2010)“…A large fraction of the major unsaturated species (C2H2 C2H4, HCN, and HC3N) with mixing ratios of about 3 × 10−6, 10−7–10−8, 3 × 10−7, and 10−9–10−10 reside…”
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Can Simulators Replace Traditional Multiple-Choice Exams in Assessment of Novice Trainees’ Understanding of Hemodynamics Concepts?
Published in The Journal of surgical research (01-02-2014)Get full text
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Small Molecule Inhibitors Targeting HIV-1 Reverse Transcriptase Dimerization
Published in Chembiochem : a European journal of chemical biology (14-04-2008)“…The enzymatic activities of human immunodeficiency virus type 1 (HIV-1) reverse transcriptase (RT) are strictly correlated with the dimeric forms of this vital…”
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Comparison between the findings of Deep Impact and our experimental results on large samples of gas-laden amorphous ice
Published in Icarus (New York, N.Y. 1962) (01-03-2007)“…The findings of Deep Impact on the structure and composition of Tempel-1 are compared with our experimental results on large (20 cm diameter and up to 10 cm…”
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An experimental study of the formation of an ice crust and migration of water vapor in a comet's upper layers
Published in Icarus (New York, N.Y. 1962) (01-05-2009)“…From recent close encounters with Comets Wild-2 and Tempel 1 we learned that their surfaces are very rugged and no simple uniform layers model can be applied…”
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