Publications by authors named "Andre Schaller"

49Publications

A Novel Van der Woude Syndrome-Causing Variant Is Subject to Incomplete Non-sense-Mediated mRNA Decay Affecting the Phenotype of Keratinocytes.

Front Cell Dev Biol 2020 29;8:583115. Epub 2020 Sep 29.

Laboratory for Oral Molecular Biology, Dental Research Center, Department of Orthodontics and Dentofacial Orthopedics, University of Bern, Bern, Switzerland.

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http://dx.doi.org/10.3389/fcell.2020.583115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7552806PMC
September 2020

Longitudinal case study and phenotypic multimodal characterization of McArdle disease-linked retinopathy: insight into pathomechanisms.

Ophthalmic Genet 2020 02 3;41(1):73-78. Epub 2020 Mar 3.

Department of BioMedical Research, University of Bern, Bern, Switzerland.

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http://dx.doi.org/10.1080/13816810.2020.1727536DOI Listing
February 2020

Diagnosis of adult-onset MELAS syndrome in a 63-year-old patient with suspected recurrent strokes - a case report.

BMC Neurol 2019 May 8;19(1):91. Epub 2019 May 8.

Neurologic Clinic and Policlinic, Departments of Medicine, Clinical Research and Biomedical Engineering, University Hospital and University of Basel, Petersgraben 4, CH-4031, Basel, Switzerland.

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https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-
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http://dx.doi.org/10.1186/s12883-019-1306-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6505262PMC
May 2019

Analysis of Inherited Optic Neuropathies.

Klin Monbl Augenheilkd 2019 Apr 4;236(4):451-461. Epub 2019 Mar 4.

Department of Ophthalmology, University of Basel, Basel, Switzerland.

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http://www.thieme-connect.de/DOI/DOI?10.1055/a-0829-6828
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http://dx.doi.org/10.1055/a-0829-6828DOI Listing
April 2019

Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?

Eur J Hum Genet 2018 09 11;26(9):1329-1338. Epub 2018 Jun 11.

Pediatric Endocrinology and Diabetology, Department of Pediatrics and Department of Biomedical Research, University Children's Hospital Bern, 3010, Bern, Switzerland.

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http://dx.doi.org/10.1038/s41431-018-0202-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117353PMC
September 2018

Phenotypic Spectrum of Mutations: A Clinical Case.

Circ Genom Precis Med 2018 02;11(2):e002033

From the Department of Cardiology (H.S., B.A., H.T., S.F.d.M., L.R., J.S., A.H., S.H.B., F.N., A.L., J.F., A.M.-D.) and Division of Human Genetics, Department of Pediatrics (A.S.), Inselspital, Bern University Hospital, University of Bern, Switzerland; Artificial Organ Center for Biomedical Engineering Research, University of Bern, Switzerland (A.H.); Department of Biosciences, CNR IBF-Milano, Università degli Studi di Milano, Italy (A.P., A.M.); and Department of Drug Design and Pharmacology, Center for Biopharmaceuticals, University of Copenhagen, Denmark (S.A.P.).

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http://dx.doi.org/10.1161/CIRCGEN.117.002033DOI Listing
February 2018

Effects of endurance training on skeletal muscle mitochondrial function in Huntington disease patients.

Orphanet J Rare Dis 2017 12 19;12(1):184. Epub 2017 Dec 19.

Department of Neurology, University Hospital Zurich, , University of Zurich, Frauenklinikstrasse 26, 8091, Zurich, Switzerland.

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http://dx.doi.org/10.1186/s13023-017-0740-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735536PMC
December 2017

Late-onset severe long QT syndrome.

Ann Noninvasive Electrocardiol 2018 07 30;23(4):e12517. Epub 2017 Nov 30.

University Clinic of Cardiology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.

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http://dx.doi.org/10.1111/anec.12517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6931632PMC
July 2018

[Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example].

Rev Med Suisse 2017 Jan;13(546):159-163

Centre des maladies moléculaires, Service de génétique médicale, CHUV, 1011 Lausanne.

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January 2017

A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy.

Eur J Med Genet 2017 Jun 13;60(6):345-351. Epub 2017 Apr 13.

Division of Human Genetics, Bern, University Hospital Bern, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.04.006DOI Listing
June 2017

Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing.

BMC Med Genet 2017 02 28;18(1):22. Epub 2017 Feb 28.

Division of Human Genetics, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Freiburgstrasse 15, 3010, Bern, Switzerland.

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http://dx.doi.org/10.1186/s12881-017-0383-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5331656PMC
February 2017

Mitochondrial cytopathy with common MELAS mutation presenting as multiple system atrophy mimic.

Neurol Genet 2016 Dec 17;2(6):e121. Epub 2016 Nov 17.

Neurologic Clinic and Policlinic (A.-K.P., P.F., L.K., M.S.), Departments of Medicine and Biomedicine; Division of Neuroradiology (J.L.), Department of Radiology; and Division of Neuropathology (J.H., S.F.), Department of Pathology, University Hospital Basel, University of Basel, Switzerland; Division of Human Genetics (A.S.), Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Switzerland.

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http://dx.doi.org/10.1212/NXG.0000000000000121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5114693PMC
December 2016

SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement.

Am J Med Genet A 2017 Jan 28;173(1):225-230. Epub 2016 Sep 28.

Division of Human Genetics, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.37986DOI Listing
January 2017

The Vacuolar H+-ATPase B1 Subunit Polymorphism p.E161K Associates with Impaired Urinary Acidification in Recurrent Stone Formers.

J Am Soc Nephrol 2016 05 9;27(5):1544-54. Epub 2015 Oct 9.

Swiss National Centres of Competence in Research Kidney.CH and TransCure and Divisions of Nephrology, Hypertension and Clinical Pharmacology, Clinical Research, Bern University Hospital, University of Bern, Switzerland; and Institute of Biochemistry and Molecular Medicine, University of Bern, Bern, Switzerland;

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http://dx.doi.org/10.1681/ASN.2015040367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4849828PMC
May 2016

Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype.

Br J Ophthalmol 2014 Oct 17;98(10):1453-9. Epub 2014 Jul 17.

Division of Human Genetics, Departments of Pediatrics and Clinical Research, Inselspital, University of Berne, Berne, Switzerland.

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http://dx.doi.org/10.1136/bjophthalmol-2014-305300DOI Listing
October 2014

Mitochondrial leucine tRNA level and PTCD1 are regulated in response to leucine starvation.

Amino Acids 2014 Jul 8;46(7):1775-83. Epub 2014 Apr 8.

Institute of Clinical Chemistry, Inselspital, Bern University Hospital and University of Bern, Bern, Switzerland,

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http://dx.doi.org/10.1007/s00726-014-1730-2DOI Listing
July 2014

Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.

J Med Genet 2014 Mar 23;51(3):170-5. Epub 2013 Dec 23.

Division of Human Genetics, Departments of Paediatrics and Clinical Research, University of Bern, Bern, Switzerland.

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http://dx.doi.org/10.1136/jmedgenet-2013-101932DOI Listing
March 2014

Clinical and molecular characterization of the potential CF disease modifier syntaxin 1A.

Eur J Hum Genet 2013 Dec 10;21(12):1462-6. Epub 2013 Apr 10.

Division of Human Genetics, Departments of Pediatrics and Clinical Research, Inselspital, University of Bern, Bern, Switzerland.

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http://dx.doi.org/10.1038/ejhg.2013.57DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3831073PMC
December 2013

Identification of SNPs in the cystic fibrosis interactome influencing pulmonary progression in cystic fibrosis.

Eur J Hum Genet 2013 Apr 15;21(4):397-403. Epub 2012 Aug 15.

Division of Human Genetics, Department of Pediatrics and Clinical Research, University of Bern, Bern, Switzerland.

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http://dx.doi.org/10.1038/ejhg.2012.181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3598332PMC
April 2013

qPCR-based mitochondrial DNA quantification: influence of template DNA fragmentation on accuracy.

Biochem Biophys Res Commun 2012 Jul 5;423(3):441-7. Epub 2012 Jun 5.

Division of Human Genetics, Departement of Pediatrics, Inselspital, University of Berne, Freiburgstrasse, CH-3010 Berne, Switzerland.

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http://dx.doi.org/10.1016/j.bbrc.2012.05.121DOI Listing
July 2012

Sensitive and rapid detection of ganciclovir resistance by PCR based MALDI-TOF analysis.

J Clin Virol 2012 Aug 24;54(4):359-63. Epub 2012 May 24.

Institute for Infectious Diseases, University of Bern, 3010 Bern, Switzerland.

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http://dx.doi.org/10.1016/j.jcv.2012.04.019DOI Listing
August 2012

Quantitative 1-step DNA methylation analysis with native genomic DNA as template.

Clin Chem 2010 Jul 14;56(7):1098-106. Epub 2010 May 14.

Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern, Bern, Switzerland.

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http://www.clinchem.org/content/56/7/1098.full.pdf
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http://www.clinchem.org/cgi/doi/10.1373/clinchem.2009.142828
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http://dx.doi.org/10.1373/clinchem.2009.142828DOI Listing
July 2010

Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study.

J Inherit Metab Dis 2010 Dec 11;33 Suppl 3:S219-26. Epub 2010 May 11.

Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, CI 02-35, Av P Decker 2, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1007/s10545-010-9098-2DOI Listing
December 2010

Outer membrane porin M35 of Moraxella catarrhalis mediates susceptibility to aminopenicillins.

BMC Microbiol 2009 Sep 4;9:188. Epub 2009 Sep 4.

Institute for Infectious Diseases, University of Bern, CH-3010 Bern, Switzerland.

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http://dx.doi.org/10.1186/1471-2180-9-188DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3224680PMC
September 2009

The CFTR frameshift mutation 3905insT and its effect at transcript and protein level.

Eur J Hum Genet 2010 Feb 2;18(2):212-7. Epub 2009 Sep 2.

Department of Paediatrics, Division of Human Genetics, University of Bern, Bern, Switzerland.

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http://dx.doi.org/10.1038/ejhg.2009.140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987192PMC
February 2010

Handling mammalian mitochondrial tRNAs and aminoacyl-tRNA synthetases for functional and structural characterization.

Methods 2008 Feb;44(2):176-89

Architecture et Réactivité de l'ARN, Université Louis Pasteur de Strasbourg, CNRS, IBMC, 15 rue René Descartes, 67084 Strasbourg, France.

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http://dx.doi.org/10.1016/j.ymeth.2007.11.002DOI Listing
February 2008

Rapid and reliable genotyping of polymorphic loci modifying correct splicing of CFTR pre-mRNA using mass spectrometry.

Eur J Hum Genet 2007 Jan 4;15(1):53-61. Epub 2006 Oct 4.

Division of Human Genetics, University of Bern, Bern, Switzerland.

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http://dx.doi.org/10.1038/sj.ejhg.5201725DOI Listing
January 2007

Sodium pump reduction correlates with aortic clamp time in pediatric heart surgery.

Exp Biol Med (Maywood) 2006 Sep;231(8):1300-5

Division of Pediatric Cardiology, University Children's Hospital, Freiburgstrasse 23, 3010 Berne, Switzerland.

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http://dx.doi.org/10.1177/153537020623100803DOI Listing
September 2006

Reduced atrial connexin43 expression after pediatric heart surgery.

Biochem Biophys Res Commun 2006 Mar 6;342(1):310-5. Epub 2006 Feb 6.

Division of Pediatric Cardiology, University Children's Hospital, Berne, Switzerland.

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http://dx.doi.org/10.1016/j.bbrc.2006.01.146DOI Listing
March 2006

Gender modulates the expression of calcium-regulating proteins in pediatric atrial myocardium.

Exp Biol Med (Maywood) 2005 Dec;230(11):853-9

Division of Pediatric Cardiology, University Children's Hospital, Berne, Switzerland.

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http://dx.doi.org/10.1177/153537020523001110DOI Listing
December 2005

Rapid typing of Moraxella catarrhalis subpopulations based on outer membrane proteins using mass spectrometry.

Proteomics 2006 Jan;6(1):172-80

Division of Human Genetics, University of Bern, Friedbuehlstrasse 51, CH-3010 Bern, Switzerland.

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http://dx.doi.org/10.1002/pmic.200500086DOI Listing
January 2006

Cardiopulmonary bypass reduces atrial Na+-K+-ATPase expression in children.

Biochem Biophys Res Commun 2005 Sep;335(3):700-4

Division of Pediatric Cardiology, Department of Pediatrics, University Hospital, 3010 Berne, Switzerland.

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http://dx.doi.org/10.1016/j.bbrc.2005.07.134DOI Listing
September 2005

The stem-loop binding protein stimulates histone translation at an early step in the initiation pathway.

RNA 2005 Jul;11(7):1030-42

MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, Scotland, United Kingdom.

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http://dx.doi.org/10.1261/rna.7281305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1370788PMC
July 2005

Age-dependent suppression of SERCA2a mRNA in pediatric atrial myocardium.

Biochem Biophys Res Commun 2005 Jan;326(2):344-8

Division of Pediatric Cardiology, University Children's Hospital, 3010 Berne, Switzerland.

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http://dx.doi.org/10.1016/j.bbrc.2004.11.040DOI Listing
January 2005

The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles.

Hum Mutat 2004 Aug;24(2):120-9

Department of Pediatrics, Division of Human Genetics, Inselspital, University of Berne, Switzerland.

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http://doi.wiley.com/10.1002/humu.20064
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http://dx.doi.org/10.1002/humu.20064DOI Listing
August 2004