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Snævar Sigurðsson - Research Specialist
–
School of Health Sciences
Snævar Sigurðsson
Íslenska
Research Specialist
Location
Læknagarður / Lg-456
Email
snaevar [at] hi.is
Unit
BioMedical Center
ORCID site
https://orcid.org/0000-0003-4860-6311
Courses 2021 - 2022
LEI603G - Molecular biology
Published works
2021
Metabolic and Transcriptional Changes across Osteogenic Differentiation of Mesenchymal Stromal Cells
Bioengineering
2020
Azithromycin ameliorates sulfur dioxide-induced airway epithelial damage and inflammatory responses.
Respiratory research
Azithromycin has lung barrier protective effects in a cell model mimicking ventilator-induced lung injury.
ALTEX
Expression of ncRNAs on the DLK1-DIO3 Locus Is Associated With Basal and Mesenchymal Phenotype in Breast Epithelial Progenitor Cells.
Frontiers in cell and developmental biology
2019
Azithromycin induces epidermal differentiation and multivesicular bodies in airway epithelia.
Respiratory research
Common and rare sequence variants influencing tumor biomarkers in blood.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
2018
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.
Nature communications
2017
Sequence variant at 4q25 near PITX2 associates with appendicitis.
Scientific reports
Effect of sequence variants on variance in glucose levels predicts type 2 diabetes risk and accounts for heritability.
Nature genetics
Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations.
NPJ genomic medicine
Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis.
Nature communications
2014
Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24.
Rare mutations associating with serum creatinine and chronic kidney disease.
Candidate genes and functional noncoding variants identified in a canine model of obsessive-compulsive disorder.
2013
Genome-wide profiling of target genes for the systemic lupus erythematosus-associated transcription factors IRF5 and STAT4.
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
Genome-wide analyses implicate 33 loci in heritable dog osteosarcoma, including regulatory variants near CDKN2A/B.
2012
Copy number expansion of the STX17 duplication in melanoma tissue from Grey horses.
2011
Identification of genomic regions associated with phenotypic variation between dog breeds using selection mapping.
Mutation discovery in mice by whole exome sequencing.
Performance of microarray and liquid based capture methods for target enrichment for massively parallel sequencing and SNP discovery.
A candidate gene study of the type I interferon pathway implicates IKBKE and IL8 as risk loci for SLE.
2010
Identification of the bovine Arachnomelia mutation by massively parallel sequencing implicates sulfite oxidase (SUOX) in bone development.
A STAT4 risk allele is associated with ischaemic cerebrovascular events and anti-phospholipid antibodies in systemic lupus erythematosus.
Genetic variants and disease-associated factors contribute to enhanced interferon regulatory factor 5 expression in blood cells of patients with systemic lupus erythematosus.
Fine-mapping and mutation analysis of TRPM1: a candidate gene for leopard complex (LP) spotting and congenital stationary night blindness in horses.
2008
Comprehensive evaluation of the genetic variants of interferon regulatory factor 5 (IRF5) reveals a novel 5 bp length polymorphism as strong risk factor for systemic lupus erythematosus.
A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5.
Variants of the interferon regulatory factor 5 gene regulate expression of IRF5 mRNA in atherosclerotic tissue but are not associated with myocardial infarction.
2007
An insertion-deletion polymorphism in the interferon regulatory Factor 5 (IRF5) gene confers risk of inflammatory bowel diseases.
Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus.
Association of a haplotype in the promoter region of the interferon regulatory factor 5 gene with rheumatoid arthritis.
2005
Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus.
2003
Quantitative evaluation by minisequencing and microarrays reveals accurate multiplexed SNP genotyping of whole genome amplified DNA.
2002
Structural basis for the inhibitory efficacy of efavirenz (DMP-266), MSC194 and PNU142721 towards the HIV-1 RT K103N mutant.
Multiplex SNP genotyping in pooled DNA samples by a four-colour microarray system.
Keywords for Specialisation:
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RNA-seq
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