Research Topics
| Andre SchallerSummaryAffiliation: University Hospital Country: Switzerland Publications
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Detail Information
Publications
Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegiaA Schaller
Division of Human Genetics, University Hospital Bern, Switzerland
Mitochondrion 11:488-96. 2011..These results suggest that structural perturbations reduce efficiency of tRNA(Ile) precursor 3' end processing and contribute to the molecular pathomechanism of this mutation...
Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndromeAndre Schaller
Division of Human Genetics, University Hospital Bern, Bern, Switzerland
BMC Neurol 11:4. 2011..In compound heterozygote patients the p.A467T mutation has been described to be associated amongst others with fatal childhood encephalopathy. These patients have a poorer survival rate compared to homozygotes...
Quantitative 1-step DNA methylation analysis with native genomic DNA as templateThomas von Kanel
Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern, Bern, Switzerland
Clin Chem 56:1098-106. 2010..To facilitate DNA methylation analysis, we have developed a quantitative 1-step assay for DNA methylation analysis...
Age-dependent suppression of SERCA2a mRNA in pediatric atrial myocardiumMladen Pavlovic
Division of Pediatric Cardiology, University Children s Hospital, 3010 Berne, Switzerland
Biochem Biophys Res Commun 326:344-8. 2005..Age itself did not influence the SERCA2a and PLB expression, if the hemodynamic overload was not taken into account. This study is the first to show a combined influence of volume overload and age on atrial SERCA2a expression...
Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvementMartin Konrad
University Children s Hospital, Inselspital, Bern, Switzerland
Am J Hum Genet 79:949-57. 2006....
Sodium pump reduction correlates with aortic clamp time in pediatric heart surgeryMladen Pavlovic
Division of Pediatric Cardiology, University Children s Hospital, Freiburgstrasse 23, 3010 Berne, Switzerland
Exp Biol Med (Maywood) 231:1300-5. 2006..In contrast, only dilated right atrium seemed to be susceptible to CPB in terms of sodium pump expression, showing a reduction during the operation and a correlation of sodium pump with postoperative troponin-I values...
Reduced atrial connexin43 expression after pediatric heart surgeryMladen Pavlovic
Division of Pediatric Cardiology, University Children s Hospital, Berne, Switzerland
Biochem Biophys Res Commun 342:310-5. 2006..006) and Cx43 higher (p=0.017) expressed, without significant change during CPB. This study revealed a significant influence of CPB and the underlying heart defect on Cx43 expression...
Gender modulates the expression of calcium-regulating proteins in pediatric atrial myocardiumMladen Pavlovic
Division of Pediatric Cardiology, University Children s Hospital, Berne, Switzerland
Exp Biol Med (Maywood) 230:853-9. 2005..To our knowledge, this study is the first to show the impact of gender on the differential expression of calcium-regulating components in pediatric cardiac patients...
Cardiopulmonary bypass reduces atrial Na+-K+-ATPase expression in childrenMladen Pavlovic
Division of Pediatric Cardiology, Department of Pediatrics, University Hospital, 3010 Berne, Switzerland
Biochem Biophys Res Commun 335:700-4. 2005..This seemed to be an early molecular event, as apart from one, none of the patients showed heart failure before or after surgery...
Identification of SNPs in the cystic fibrosis interactome influencing pulmonary progression in cystic fibrosisFranziska M Gisler
Division of Human Genetics, Department of Pediatrics and Clinical Research, University of Bern, Bern, Switzerland
Eur J Hum Genet 21:397-403. 2013..Phe508del-CFTR while variants in KRT19 may modulate the amount of p.Phe508del-CFTR at the apical membrane and consequently modify CF disease...
qPCR-based mitochondrial DNA quantification: influence of template DNA fragmentation on accuracyChristopher B Jackson
Division of Human Genetics, Departement of Pediatrics, Inselspital, University of Berne, Freiburgstrasse, CH 3010 Berne, Switzerland
Biochem Biophys Res Commun 423:441-7. 2012..To our knowledge this is the first time different degradation impact of the two genomes is demonstrated and which evaluates systematically the impact of DNA degradation on quantification of mtDNA copy number...
Rapid typing of Moraxella catarrhalis subpopulations based on outer membrane proteins using mass spectrometryAndre Schaller
Division of Human Genetics, University of Bern, Friedbuehlstrasse 51, CH 3010 Bern, Switzerland
Proteomics 6:172-80. 2006..catarrhalis isolates to the correct subpopulation. Therefore, MALDI-TOF of intact M. catarrhalis provides a rapid and robust tool for M. catarrhalis strain typing that could be applied in epidemiological studies...
The CFTR frameshift mutation 3905insT and its effect at transcript and protein levelJavier Sanz
Department of Paediatrics, Division of Human Genetics, University of Bern, Bern, Switzerland
Eur J Hum Genet 18:212-7. 2010..However, further experiments are needed to elucidate the fate of the 3905insT CFTR in the cell after its biosynthesis...
