Publications (original articles or review articles) published in 2011 from OUS - Department of Medical Genetics
64 publications found
Common sequence variants in the major histocompatibility complex region associate with cerebral ventricular size in schizophrenia
Biol Psychiatry, 70 (7), 696-8
DOI 10.1016/j.biopsych.2011.02.034, PubMed 21514568
Obstructive sleep apnea in Treacher Collins syndrome
Eur Arch Otorhinolaryngol, 269 (1), 331-7
DOI 10.1007/s00405-011-1649-0, PubMed 21626120
Association of genetic variants on 15q12 with cortical thickness and cognition in schizophrenia
Arch Gen Psychiatry, 68 (8), 781-90
DOI 10.1001/archgenpsychiatry.2011.81, PubMed 21810643
Accumulation and effects of natural mixtures of persistent organic pollutants (POP) in Zebrafish after two generations of exposure
J Toxicol Environ Health A, 74 (7-9), 407-23
DOI 10.1080/15287394.2011.550455, PubMed 21391088
Time-lapse microscopy of early embryogenesis in Caenorhabditis elegans
J Vis Exp (54)
DOI 10.3791/2852, PubMed 21897352
IL-6 regulates exercise and training-induced adaptations in subcutaneous adipose tissue in mice
Acta Physiol (Oxf), 205 (2), 224-35
DOI 10.1111/j.1748-1716.2011.02373.x, PubMed 21991887
Advances of bioinformatics tools applied in virus epitopes prediction
Virol Sin, 26 (1), 1-7
DOI 10.1007/s12250-011-3159-4, PubMed 21331885
Genome-wide association study identifies genetic variation in neurocan as a susceptibility factor for bipolar disorder
Am J Hum Genet, 88 (3), 372-81
DOI 10.1016/j.ajhg.2011.01.017, PubMed 21353194
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics
Clin Genet, 82 (4), 395-403
DOI 10.1111/j.1399-0004.2011.01810.x, PubMed 22091895
Antibiotic prescribing in nursing homes in an area with low prevalence of antibiotic resistance: compliance with national guidelines
Scand J Prim Health Care, 30 (1), 10-5
DOI 10.3109/02813432.2011.629156, PubMed 22188479
Syndecan-4 is essential for development of concentric myocardial hypertrophy via stretch-induced activation of the calcineurin-NFAT pathway
PLoS One, 6 (12), e28302
DOI 10.1371/journal.pone.0028302, PubMed 22164265
Extensive variation and low heritability of DNA methylation identified in a twin study
Genome Res, 21 (11), 1813-21
DOI 10.1101/gr.119685.110, PubMed 21948560
Epidemiology and mutational analysis of global strains of Crimean-Congo haemorrhagic fever virus
Virol Sin, 26 (4), 229-44
DOI 10.1007/s12250-011-3211-z, PubMed 21847754
At-risk variant in TCF7L2 for type II diabetes increases risk of schizophrenia
Biol Psychiatry, 70 (1), 59-63
DOI 10.1016/j.biopsych.2011.01.031, PubMed 21414605
[New gene map for multiple sclerosis]
Tidsskr Nor Laegeforen, 131 (21), 2126-30
DOI 10.4045/tidsskr.10.0823, PubMed 22048209
Ephrin-B3 binds to a sulfated cell-surface receptor
Biochem J, 433 (1), 215-23
DOI 10.1042/BJ20100865, PubMed 20925654
Ephrin-B3 binds specifically to B lymphocytes in blood and induces migration
Scand J Immunol, 74 (2), 144-54
DOI 10.1111/j.1365-3083.2011.02563.x, PubMed 21447033
Role of the C-terminal domain of PCSK9 in degradation of the LDL receptors
J Lipid Res, 52 (10), 1787-94
DOI 10.1194/jlr.M018093, PubMed 21771976
Removal of acidic residues of the prodomain of PCSK9 increases its activity towards the LDL receptor
Biochem Biophys Res Commun, 406 (2), 234-8
DOI 10.1016/j.bbrc.2011.02.023, PubMed 21324305
[A young woman with a weakening leg]
Tidsskr Nor Laegeforen, 131 (6), 583-6
DOI 10.4045/tidsskr.09.1499, PubMed 21423311
Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness
Am J Psychiatry, 168 (4), 408-17
DOI 10.1176/appi.ajp.2010.09111660, PubMed 21324950
The MDM2 promoter SNP285C/309G haplotype diminishes Sp1 transcription factor binding and reduces risk for breast and ovarian cancer in Caucasians
Cancer Cell, 19 (2), 273-82
DOI 10.1016/j.ccr.2010.12.019, PubMed 21316605
Combinations of SNPs related to signal transduction in bipolar disorder
PLoS One, 6 (8), e23812
DOI 10.1371/journal.pone.0023812, PubMed 21897858
Melatonin stimulates release of tissue factor pathway inhibitor from the vascular endothelium
Blood Coagul Fibrinolysis, 22 (4), 254-9
DOI 10.1097/MBC.0b013e3283442ce2, PubMed 21297449
Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy
Forensic Sci Int, 219 (1-3), 33-8
DOI 10.1016/j.forsciint.2011.11.020, PubMed 22177269
Subjects with molecularly defined familial hypercholesterolemia or familial defective apoB-100 are not being adequately treated
PLoS One, 6 (2), e16721
DOI 10.1371/journal.pone.0016721, PubMed 21364743
Chromosomes 4 and 8 implicated in a genome wide SNP linkage scan of 762 prostate cancer families collected by the ICPCG
Prostate, 72 (4), 410-26
DOI 10.1002/pros.21443, PubMed 21748754
Skewed X inactivation and survival: a 13-year follow-up study of elderly twins and singletons
Eur J Hum Genet, 20 (3), 361-4
DOI 10.1038/ejhg.2011.215, PubMed 22146940
A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism
Am J Med Genet A, 155A (2), 403-8
DOI 10.1002/ajmg.a.33798, PubMed 21271662
Affinity and kinetics of proprotein convertase subtilisin/kexin type 9 binding to low-density lipoprotein receptors on HepG2 cells
FEBS J, 278 (16), 2938-50
DOI 10.1111/j.1742-4658.2011.08219.x, PubMed 21692990
Design and characterization of targeted ultrasound microbubbles for diagnostic use
Ultrasound Med Biol, 37 (1), 136-50
DOI 10.1016/j.ultrasmedbio.2010.10.010, PubMed 21144962
Copy number variations in affective disorders and meta-analysis
Psychiatr Genet, 21 (6), 319-22
DOI 10.1097/YPG.0b013e3283463deb, PubMed 21451435
Emergence of genotype I of Japanese encephalitis virus as the dominant genotype in Asia
J Virol, 85 (19), 9847-53
DOI 10.1128/JVI.00825-11, PubMed 21697481
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4
Nat Genet, 43 (10), 977-83
DOI 10.1038/ng.943, PubMed 21926972
Novel evidence suggests Hepatitis B virus surface proteins participate in regulation of HBV genome replication
Virol Sin, 26 (2), 131-8
DOI 10.1007/s12250-011-3190-0, PubMed 21468936
[Glucose transporter protein type 1 (GLUT-1) deficiency syndrome]
Tidsskr Nor Laegeforen, 131 (8), 828-31
PubMed 21556087
Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing
Invest Ophthalmol Vis Sci, 52 (9), 6814-9
DOI 10.1167/iovs.10-6815, PubMed 21357393
Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations
Orphanet J Rare Dis, 6, 58
DOI 10.1186/1750-1172-6-58, PubMed 21878110
The PTPN22 R263Q polymorphism is a risk factor for rheumatoid arthritis in Caucasian case-control samples
Arthritis Rheum, 63 (2), 365-72
DOI 10.1002/art.30145, PubMed 21279993
Right ventricular mechanical dispersion is related to malignant arrhythmias: a study of patients with arrhythmogenic right ventricular cardiomyopathy and subclinical right ventricular dysfunction
Eur Heart J, 32 (9), 1089-96
DOI 10.1093/eurheartj/ehr069, PubMed 21406439
Genome-wide association study identifies five new schizophrenia loci
Nat Genet, 43 (10), 969-76
DOI 10.1038/ng.940, PubMed 21926974
A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions
Eur J Hum Genet, 20 (1), 58-63
DOI 10.1038/ejhg.2011.126, PubMed 21712855
A pathway-based approach investigating the genes encoding interleukin-1β, interleukin-6 and the interleukin-1 receptor antagonist provides new insight into the genetic susceptibility of Achilles tendinopathy
Br J Sports Med, 45 (13), 1040-7
DOI 10.1136/bjsm.2010.076760, PubMed 21558284
Genomic features and computational identification of human microRNAs under long-range developmental regulation
BMC Genomics, 12, 270
DOI 10.1186/1471-2164-12-270, PubMed 21619633
Multiple loci in the HLA complex are associated with Addison's disease
J Clin Endocrinol Metab, 96 (10), E1703-8
DOI 10.1210/jc.2011-0645, PubMed 21816777
Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis
Am J Med Genet A, 158A (1), 215-9
DOI 10.1002/ajmg.a.34376, PubMed 22105938
Downregulation of TFPI in breast cancer cells induces tyrosine phosphorylation signaling and increases metastatic growth by stimulating cell motility
BMC Cancer, 11, 357
DOI 10.1186/1471-2407-11-357, PubMed 21849050
Binding of human milk to pathogen receptor DC-SIGN varies with bile salt-stimulated lipase (BSSL) gene polymorphism
PLoS One, 6 (2), e17316
DOI 10.1371/journal.pone.0017316, PubMed 21386960
Common variants at VRK2 and TCF4 conferring risk of schizophrenia
Hum Mol Genet, 20 (20), 4076-81
DOI 10.1093/hmg/ddr325, PubMed 21791550
Lecithin: Cholesterol Acyltransferase (LCAT) Deficiency: renal lesions with early graft recurrence
Ultrastruct Pathol, 35 (3), 139-45
DOI 10.3109/01913123.2010.551578, PubMed 21323422
The cytoplasmic domain is not involved in directing Class 5 mutant LDL receptors to lysosomal degradation
Biochem Biophys Res Commun, 408 (4), 642-6
DOI 10.1016/j.bbrc.2011.04.077, PubMed 21531209
Characterization of residues in the cytoplasmic domain of the LDL receptor required for exit from the endoplasmic reticulum
Biochem Biophys Res Commun, 415 (4), 642-5
DOI 10.1016/j.bbrc.2011.10.127, PubMed 22079632
Association analysis of ANK3 gene variants in nordic bipolar disorder and schizophrenia case-control samples
Am J Med Genet B Neuropsychiatr Genet, 156B (8), 969-74
DOI 10.1002/ajmg.b.31244, PubMed 21972176
Protein C mutation (A267T) results in ER retention and unfolded protein response activation
PLoS One, 6 (8), e24009
DOI 10.1371/journal.pone.0024009, PubMed 21901152
Pregnancy outcomes in familial hypercholesterolemia: a registry-based study
Circulation, 124 (15), 1606-14
DOI 10.1161/CIRCULATIONAHA.110.990929, PubMed 21911783
Alpha-nicotinic acetylcholine receptor and tobacco smoke exposure: effects on bronchial hyperresponsiveness in children
Pediatr Allergy Immunol, 23 (1), 40-9
DOI 10.1111/j.1399-3038.2011.01222.x, PubMed 22017462
Interaction between the ligand-binding domain of the LDL receptor and the C-terminal domain of PCSK9 is required for PCSK9 to remain bound to the LDL receptor during endosomal acidification
Hum Mol Genet, 21 (6), 1402-9
DOI 10.1093/hmg/ddr578, PubMed 22156580
Characterization of a naturally occurring degradation product of the LDL receptor
Mol Genet Metab, 105 (1), 149-54
DOI 10.1016/j.ymgme.2011.10.008, PubMed 22078455
Dual association of a TRKA polymorphism with schizophrenia
Psychiatr Genet, 21 (3), 125-31
DOI 10.1097/YPG.0b013e3283437194, PubMed 21317683
Splenic marginal zone lymphoma with VH1-02 gene rearrangement expresses poly- and self-reactive antibodies with similar reactivity
Blood, 118 (12), 3331-9
DOI 10.1182/blood-2011-03-341651, PubMed 21725051
Use of mutual information arrays to predict coevolving sites in the full length HIV gp120 protein for subtypes B and C
Virol Sin, 26 (2), 95-104
DOI 10.1007/s12250-011-3188-7, PubMed 21468932
MiRPara: a SVM-based software tool for prediction of most probable microRNA coding regions in genome scale sequences
BMC Bioinformatics, 12, 107
DOI 10.1186/1471-2105-12-107, PubMed 21504621
Genetic characteristics of 2009 pandemic H1N1 influenza a viruses isolated from Mainland China
Virol Sin, 26 (6), 418-27
DOI 10.1007/s12250-011-3228-3, PubMed 22160942
Serotonin transporter gene polymorphism, childhood trauma, and cognition in patients with psychotic disorders
Schizophr Bull, 38 (1), 15-22
DOI 10.1093/schbul/sbr113, PubMed 21908796