- Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death
Department of Biomedicine, Aarhus University, DK 8000 Aarhus, Denmark
Am J Hum Genet 91:703-12. 2012
- No association of polymorphisms in human endogenous retrovirus K18 and CD48 with schizophrenia
Department of Haematology, Aalborg Hospital Science and Innovation Center, Aarhus University Hospital, Aalborg, Denmark
Psychiatr Genet 22:146-8. 2012
..However, one HERV-K18 SNP showed a tendency toward an association with T2D in younger SZ patients, in agreement with previous findings, but due to a very low sample size, this result needs to be further investigated...
- Validation and implementation of a method for microarray gene expression profiling of minor B-cell subpopulations in man
Kim Steve Bergkvist
Department of Haematology, Aalborg University Hospital Science and Innovation Center, Sdr Skovvej 15, DK 9000 Aalborg, Denmark
BMC Immunol 15:3. 2014
..However, some of the differentiating compartments involve a low number of cells and therefore it is important to optimize and validate each step in the procedure...
- Exposure time independent summary statistics for assessment of drug dependent cell line growth inhibition
Department of Haematology, Aalborg University Hospital, Aalborg, Denmark
BMC Bioinformatics 15:168. 2014
..This may lead to suboptimal exploitation of data and biased conclusions on the potential of the drug in question. Therefore we set out to improve the dose-response assessments by eliminating the impact of time dependency...
- Association of GRIN1 and GRIN2A-D with schizophrenia and genetic interaction with maternal herpes simplex virus-2 infection affecting disease risk
Department of Human Genetics, Aarhus University, Aarhus, Denmark
Am J Med Genet B Neuropsychiatr Genet 156:913-22. 2011
..0008). The significant associations and interactions were located at the 3' region of GRIN2B suggesting that genetic variation in this part of the gene may be involved in the pathophysiology of schizophrenia...
- The gene encoding the melanin-concentrating hormone receptor 1 is associated with schizophrenia in a Danish case-control sample
Department of Human Genetics, Aarhus University, Arhus, Denmark
Psychiatr Genet 22:62-9. 2012
..Herein we report an association between variations in the MCHR1 gene and schizophrenia, based on analyses of a larger sample and an increased number of single nucleotide polymorphisms (SNPs) than used in the previous study...
- The Schizophrenia and Bipolar Disorder associated BRD1 gene is regulated upon chronic restraint stress
Jane H Christensen
Department of Biomedicine, Aarhus University, Denmark
Eur Neuropsychopharmacol 22:651-6. 2012
- A genome-wide study of panic disorder suggests the amiloride-sensitive cation channel 1 as a candidate gene
Centre for Psychiatric Research, Aarhus University Hospital, Risskov, Aarhus, Denmark
Eur J Hum Genet 20:84-90. 2012
..This suggests that the possible risk alleles associated in the isolated population are not those involved in the development of PD in a larger outbred population...
- A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment
Department of Biomedicine, Aarhus University, Aarhus, Denmark Centre for Integrative Sequencing iSEQ, Aarhus University, Aarhus, Denmark
PLoS Genet 11:e1005386. 2015
..In conclusion, we have identified a new DFNA locus located on chromosome 6q15-21 and implicated CD164 as a novel gene for hearing impairment. ..
- Identification of the BRD1 interaction network and its impact on mental disorder risk
Department of Biomedicine, Aarhus University, Building 1242, Bartholins All 6, 8000, Aarhus C, Denmark
Genome Med 8:53. 2016
..To advance the understanding of BRD1 and its role in mental disorders, we characterized the protein and chromatin interactions of the BRD1 isoforms, BRD1-S and BRD1-L...
- Predicting response to multidrug regimens in cancer patients using cell line experiments and regularised regression models
Department of Haematology, Research Section, Aalborg University Hospital, Sdr Skovvej 15, 9000, Aalborg, Denmark
BMC Cancer 15:235. 2015
..The proposed workflows are tested on diffuse large B-cell lymphoma treated with R-CHOP first-line therapy...
- Triploidy--Observations in 154 Diandric Cases
Nanna Brink Scholz
Department of Biomedicine, Aarhus University, Aarhus, Denmark
PLoS ONE 10:e0142545. 2015
..Although single cases of GTN after a triploid HM have been reported, the results of this study combined with data from previous prospective studies estimate the risk of GTN after a triploid mole to 0% (95% CI: 0-1,4%). ..
- Experimental validation of methods for differential gene expression analysis and sample pooling in RNA-seq
Anto P Rajkumar
Department of Biomedicine, Aarhus University, 6, Bartholins Allé, Aarhus C, Aarhus, 8000, Denmark
BMC Genomics 16:548. 2015
..Moreover, we sequenced RNA-pools and compared their results with sequencing corresponding individual RNA samples...
- A genome-wide search for linkage to allergic rhinitis in Danish sib-pair families
Lisbeth Venø Kruse
Department of Biomedicine, Aarhus University, Aarhus, Denmark
Eur J Hum Genet 20:965-72. 2012
..Likely maternal imprinting was observed at 2q23, and possible maternal imprinting at 3q28...
- A major imprinted gene involved in hydatidiform mole is not located in 2q31.2-qter or 5q34-qter
Aarhus University Hospital, Aalborg, Denmark
Gene 497:280-4. 2012
..However it remains yet to be specified which gene(s) in the molar genome actually causes the molar phenotype when present in a state of "paternal excess" or "maternal deficiency"...
- Paternal Hemizygosity in 11p15 in Mole-like Conceptuses: Two Case Reports
From the Department of Clinical Genetics, Aarhus University Hospital, Aarhus N, Denmark LS Institute of Pathology, Aalborg University Hospital, Aalborg, Denmark HL, AG Trophoblastic Tumour Screening and Treatment Centre, Department of Oncology, Imperial College Healthcare NHS NJS, RF Institute of Child Health, University College London NJS Institute of Reproductive and Developmental Biology, Department of Surgery and Cancer, Imperial College London, London, UK RF Department of Gynaecology and Obstetrics, Aarhus University Hospital, Aarhus N IN Hemodiagnostic Laboratory, CancercytogeneticSection, Aarhus University Hospital, Aarhus C, Denmark EK Department of Immunology and Biochemistry, Vejle Sygehus, Vejle, Denmark LA Department of Pathology, Aarhus University Hospital, Aarhus C, Denmark EH Department of Clinical Genetics, Vejle Sygehus, Vejle, Denmark AB Department of Biomedicine, Aarhus University, Aarhus C, Denmark LS, LB, MN and Beijing Genomics Institute HuaDa Shenzhen, Shenzhen, China LB
Medicine (Baltimore) 94:e1776. 2015
..However, since the present two cases did not exhibit all features of hydatidiform moles, it is likely that abnormal parental imprinting of genes in other regions contribute to the phenotype of a hydatidiform mole. ..
- Clinical impact of leukemic blast heterogeneity at diagnosis in cytogenetic intermediate-risk acute myeloid leukemia
Marianne Hutchings Hoffmann
Department of Haematology, Herlev University Hospital, Copenhagen, Denmark
Cytometry B Clin Cytom 82:123-31. 2012
- Multiparametric flow cytometry for identification and fluorescence activated cell sorting of five distinct B-cell subpopulations in normal tonsil tissue
Malene Krag Kjeldsen
Department of Haematology, Aalborg Hospital, Aarhus University Hospital, Aalborg, Denmark
Am J Clin Pathol 136:960-9. 2011
..This study has established a detailed and fast procedure for simultaneous sorting of up to 5 distinct maturation-associated B-cell subpopulations from human tonsils...
- Promoter polymorphisms in the chitinase 3-like 1 gene influence the serum concentration of YKL-40 in Danish patients with rheumatoid arthritis and in healthy subjects
Kaspar R Nielsen
Department of Clinical Immunology, Aalborg Hospital, Aarhus University Hospital, Reberbansgade, Pobox 561, 9000, Aalborg, Denmark
Arthritis Res Ther 13:R109. 2011
..YKL-40 concentrations are elevated in the serum of patients with RA compared to healthy subjects, and YKL-40 has been suggested to be an auto-antigen and may play a role in development of RA and in inflammation...
- The IGF-1 receptor inhibitor picropodophyllin potentiates the anti-myeloma activity of a BH3-mimetic
Department of Hematology and Immunology Myeloma Center Brussel, Vrije Universiteit Brussel, Brussels, Belgium Department of Haematology, Aalborg Hospital, Aalborg University, Denmark Department of Biomedicine, Aarhus University, Aarhus, Denmark
Oncotarget 5:11193-208. 2014
..After co-treatment, both subpopulations were targeted equally. Together, the combination of an IGF-1R inhibitor and an ABT-analogue displays synergistic anti-myeloma activity providing the rational for further (pre)clinical testing. ..
- The hypercholesterolemia-risk gene SORT1 facilitates PCSK9 secretion
The Lundbeck Foundation Research Center, Mind, Department of Biomedicine, Aarhus University, Vennelyst Boulevard 4, DK 8000 C Aarhus, Denmark
Cell Metab 19:310-8. 2014
..Taken together, our findings establish sortilin as a critical regulator of PCSK9 activity. ..
- A model system for assessing and comparing the ability of exon microarray and tag sequencing to detect genes specific for malignant B-cells
Maria Bro Kloster
Department of Haematology, Aalborg Hospital, Aarhus University Hospital, Sdr Skovvej 15, 9000 Aalborg, Denmark
BMC Genomics 13:596. 2012
..A model system was established by eight serial dilutions of the malignant B-cell lymphoma cell line, OCI-Ly8, into the embryonic kidney cell line, HEK293, prior to parallel analysis by exon microarrays and tag-seq...
- Support for a bipolar affective disorder susceptibility locus on chromosome 12q24.3
Henriette Nørmølle Buttenschøn
Centre for Psychiatric Research, Aarhus University Hospital, Risskov, Denmark
Psychiatr Genet 20:93-101. 2010
..Linkage and association studies of bipolar affective disorder (BAD) point out chromosome 12q24 as a region of interest...