Andre Schaller

Summary

Affiliation: University Hospital
Country: Switzerland

Publications

  1. pmc Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia
    A Schaller
    Division of Human Genetics, University Hospital Bern, Switzerland
    Mitochondrion 11:488-96. 2011
  2. pmc Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome
    Andre Schaller
    Division of Human Genetics, University Hospital Bern, Bern, Switzerland
    BMC Neurol 11:4. 2011
  3. ncbi request reprint The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles
    Bernhard Steiner
    Department of Pediatrics, Division of Human Genetics, Inselspital, University of Berne, Switzerland
    Hum Mutat 24:120-9. 2004
  4. pmc Identification of SNPs in the cystic fibrosis interactome influencing pulmonary progression in cystic fibrosis
    Franziska 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
  5. doi request reprint Quantitative 1-step DNA methylation analysis with native genomic DNA as template
    Thomas von Kanel
    Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern, Bern, Switzerland
    Clin Chem 56:1098-106. 2010
  6. ncbi request reprint Gender modulates the expression of calcium-regulating proteins in pediatric atrial myocardium
    Mladen Pavlovic
    Division of Pediatric Cardiology, University Children s Hospital, Berne, Switzerland
    Exp Biol Med (Maywood) 230:853-9. 2005
  7. ncbi request reprint Cardiopulmonary bypass reduces atrial Na+-K+-ATPase expression in children
    Mladen Pavlovic
    Division of Pediatric Cardiology, Department of Pediatrics, University Hospital, 3010 Berne, Switzerland
    Biochem Biophys Res Commun 335:700-4. 2005
  8. ncbi request reprint Sodium pump reduction correlates with aortic clamp time in pediatric heart surgery
    Mladen Pavlovic
    Division of Pediatric Cardiology, University Children s Hospital, Freiburgstrasse 23, 3010 Berne, Switzerland
    Exp Biol Med (Maywood) 231:1300-5. 2006
  9. pmc Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement
    Martin Konrad
    University Children s Hospital, Inselspital, Bern, Switzerland
    Am J Hum Genet 79:949-57. 2006
  10. ncbi request reprint Age-dependent suppression of SERCA2a mRNA in pediatric atrial myocardium
    Mladen Pavlovic
    Division of Pediatric Cardiology, University Children s Hospital, 3010 Berne, Switzerland
    Biochem Biophys Res Commun 326:344-8. 2005

Detail Information

Publications16

  1. pmc Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia
    A 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...
  2. pmc Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome
    Andre 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...
  3. ncbi request reprint The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles
    Bernhard Steiner
    Department of Pediatrics, Division of Human Genetics, Inselspital, University of Berne, Switzerland
    Hum Mutat 24:120-9. 2004
    ..In addition, cSNPs may be responsible for variation in the phenotypic expression of CFTR mutations. Quantitative approaches rather than conventional genomic analysis are required to interpret the role of cSNPs...
  4. pmc Identification of SNPs in the cystic fibrosis interactome influencing pulmonary progression in cystic fibrosis
    Franziska 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...
  5. doi request reprint Quantitative 1-step DNA methylation analysis with native genomic DNA as template
    Thomas 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...
  6. ncbi request reprint Gender modulates the expression of calcium-regulating proteins in pediatric atrial myocardium
    Mladen 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...
  7. ncbi request reprint Cardiopulmonary bypass reduces atrial Na+-K+-ATPase expression in children
    Mladen 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...
  8. ncbi request reprint Sodium pump reduction correlates with aortic clamp time in pediatric heart surgery
    Mladen 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...
  9. pmc Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement
    Martin Konrad
    University Children s Hospital, Inselspital, Bern, Switzerland
    Am J Hum Genet 79:949-57. 2006
    ....
  10. ncbi request reprint Age-dependent suppression of SERCA2a mRNA in pediatric atrial myocardium
    Mladen 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...
  11. ncbi request reprint Reduced atrial connexin43 expression after pediatric heart surgery
    Mladen 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...
  12. doi request reprint Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency
    Christopher Benjamin Jackson
    Division of Human Genetics, Departments of Paediatrics and Clinical Research, University of Bern, Bern, Switzerland
    J Med Genet 51:170-5. 2014
    ..Recessive germline mutations in SDHB have recently been associated with complex II deficiency and leukodystrophy in one patient...
  13. pmc Clinical and molecular characterization of the potential CF disease modifier syntaxin 1A
    Thomas von Kanel
    Division of Human Genetics, Departments of Pediatrics and Clinical Research, Inselspital, University of Bern, Bern, Switzerland
    Eur J Hum Genet 21:1462-6. 2013
    ..Our findings show that genes interacting with CFTR can modify CF disease progression. ..
  14. doi request reprint qPCR-based mitochondrial DNA quantification: influence of template DNA fragmentation on accuracy
    Christopher 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...
  15. ncbi request reprint Rapid typing of Moraxella catarrhalis subpopulations based on outer membrane proteins using mass spectrometry
    Andre 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...
  16. pmc The CFTR frameshift mutation 3905insT and its effect at transcript and protein level
    Javier 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...