Publications 2015

427 publications

Exploring water as building bricks in enzyme engineering.
Hendil-Forssell P, Martinelle M, Syrén PO
Chem. Commun. (Camb.) 51 (97) 17221-17224 [2015-12-18; online 2015-10-02]
Protein Science Facility (PSF)
Multi-level omics analysis in a murine model of dystrophin loss and therapeutic restoration.
Roberts TC, Johansson HJ, McClorey G, ..., El Andaloussi S, Wood MJ
Hum. Mol. Genet. 24 (23) 6756-6768 [2015-12-01; online 2015-09-20]
Bioinformatics and Expression Analysis (BEA)
Protein profiling reveals consequences of lifestyle choices on predicted biological aging.
Enroth S, Enroth SB, Johansson Å, Gyllensten U
Sci Rep 5 (-) 17282 [2015-12-01; online 2015-12-01]
Clinical Biomarkers
Identification of proteins from human permanent erupted enamel.
Castiblanco GA, Rutishauser D, Ilag LL, ..., Castellanos JE, Mejía W
Eur. J. Oral Sci. 123 (6) 390-395 [2015-12-00; online 2015-10-04]
Advanced Mass Spectrometry Proteomics
Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.
Gaulton KJ, Ferreira T, Lee Y, ..., Morris AP, DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium
Nat. Genet. 47 (12) 1415-1425 [2015-12-00; online 2015-11-09]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
Discovery of New Risk Markers for Ischemic Stroke Using a Novel Targeted Proteomics Chip.
Lind L, Siegbahn A, Lindahl B, ..., Sundström J, Ärnlöv J
Stroke 46 (12) 3340-3347 [2015-12-00; online 2015-11-07]
Clinical Biomarkers
Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.
Paternoster L, Standl M, Waage J, ..., Weidinger S, EArly Genetics and Lifecourse Epidemiology (EAGLE) Eczema Consortium
Nat. Genet. 47 (12) 1449-1456 [2015-12-00; online 2015-10-21]
Mutation Analysis Facility (MAF)
Meta-analysis identifies seven susceptibility loci involved in the atopic march.
Marenholz I, Esparza-Gordillo J, Rüschendorf F, ..., Henderson AJ, Lee YA
Nat Commun 6 (-) 8804 [2015-11-06; online 2015-11-06]
Mutation Analysis Facility (MAF)
Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.
Ekvall S, Wilbe M, Dahlgren J, ..., Annerén G, Bondeson ML
BMC Med. Genet. 16 (-) 95 [2015-10-14; online 2015-10-14]
Clinical Genomics Uppsala
The folate-coupled enzyme MTHFD2 is a nuclear protein and promotes cell proliferation.
Gustafsson Sheppard N, Jarl L, Mahadessian D, ..., Jain M, Nilsson R
Sci Rep 5 (-) 15029 [2015-10-13; online 2015-10-13]
Spatial Proteomics
The Human Glioblastoma Cell Culture Resource: Validated Cell Models Representing All Molecular Subtypes.
Xie Y, Bergström T, Jiang Y, ..., Forsberg-Nilsson K, Uhrbom L
EBioMedicine 2 (10) 1351-1363 [2015-10-00; online 2015-08-15]
Array and Analysis Facility
Acid-Base Catalyst Discriminates between a Fructose 6-Phosphate Aldolase and a Transaldolase
Stellmacher L, Sandalova T, Leptihn S, ..., Sprenger GA, Samland AK
ChemCatChem 7 (19) 3140-3151 [2015-10-00; online 2015-08-06]
Protein Science Facility (PSF)
Trimeric microsomal glutathione transferase 2 displays one third of the sites reactivity.
Ahmad S, Thulasingam M, Palombo I, ..., Haeggström JZ, Rinaldo-Matthis A
Biochim. Biophys. Acta 1854 (10 Pt A) 1365-1371 [2015-10-00; online 2015-06-13]
Protein Science Facility (PSF)
A New Method for Detecting Associations with Rare Copy-Number Variants.
Tzeng JY, Magnusson PK, Sullivan PF, Swedish Schizophrenia Consortium , Szatkiewicz JP
PLoS Genet. 11 (10) e1005403 [2015-10-00; online 2015-10-02]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
The use of gene arrays and corresponding connectivity mapping (Cmap) to identify novel anti-ageing ingredients.
Gillbro JM, Merinville E, Olsson M, ..., Visdal-Johnsen L, Mavon A
Int J Cosmet Sci 37 Suppl 1 (-) 9-14 [2015-10-00; online 2015-06-27]
Array and Analysis Facility
Dormant phages of Helicobacter pylori reveal distinct populations in Europe.
Vale FF, Vadivelu J, Oleastro M, ..., Mégraud F, Lehours P
Sci Rep 5 (-) 14333 [2015-09-21; online 2015-09-21]
Clinical Genomics Stockholm [Collaborative]
Genetics and Prognostication in Splenic Marginal Zone Lymphoma: Revelations from Deep Sequencing.
Parry M, Rose-Zerilli MJ, Ljungström V, ..., Oscier D, Strefford JC
Clin. Cancer Res. 21 (18) 4174-4183 [2015-09-15; online 2015-03-18]
Clinical Genomics Uppsala
Surface Chemistry of Nanocellulose Fibers Directs Monocyte/Macrophage Response.
Hua K, Ålander E, Lindström T, ..., Strømme M, Ferraz N
Biomacromolecules 16 (9) 2787-2795 [2015-09-14; online 2015-08-08]
BioMaterial Interactions (BioMat)
Half-of-the-Sites Reactivity of the Castor Δ9-18:0-Acyl Carrier Protein Desaturase.
Liu Q, Chai J, Moche M, ..., Lindqvist Y, Shanklin J
Plant Physiol. 169 (1) 432-441 [2015-09-00; online 2015-08-01]
Protein Science Facility (PSF)
Use of a proximity extension assay proteomics chip to discover new biomarkers for human atherosclerosis.
Lind L, Ärnlöv J, Lindahl B, ..., Sundström J, Ingelsson E
Atherosclerosis 242 (1) 205-210 [2015-09-00; online 2015-07-24]
Clinical Biomarkers
Synthesis of enantiopure angiotensin II type 2 receptor [AT2R] antagonist EMA401
Wakchaure PB, Bremberg U, Wannberg J, Larhed M
Tetrahedron 71 (38) 6881-6887 [2015-09-00; online 2015-09-00]
Drug Discovery and Development (DDD)
In Vitro and In Vivo Response to Low-Modulus PMMA-Based Bone Cement.
Carlsson E, Mestres G, Treerattrakoon K, ..., Larsson S, Persson C
Biomed Res Int 2015 (-) 594284 [2015-08-20; online 2015-08-20]
BioMaterial Interactions (BioMat)
Comprehensive genomic profiles of small cell lung cancer.
George J, Lim JS, Jang SJ, ..., Sage J, Thomas RK
Nature 524 (7563) 47-53 [2015-08-06; online 2015-07-15]
Clinical Genomics Uppsala [Collaborative]
Heat differentiated complement factor profiling.
Hamsten C, Skattum L, Truedsson L, ..., Nilsson P, Neiman M
J Proteomics 126 (-) 155-162 [2015-08-03; online 2015-06-07]
Affinity Proteomics Stockholm [Technology development]
Effect of genetic variations on ticagrelor plasma levels and clinical outcomes.
Varenhorst C, Eriksson N, Johansson Å, ..., Wallentin L, PLATO Investigators
Eur. Heart J. 36 (29) 1901-1912 [2015-08-01; online 2015-05-04]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
Epigenetic activation of a cryptic TBC1D16 transcript enhances melanoma progression by targeting EGFR.
Vizoso M, Ferreira HJ, Lopez-Serra P, ..., Marais R, Esteller M
Nat. Med. 21 (7) 741-750 [2015-07-00; online 2015-06-01]
Tissue Profiling [Collaborative]
CTCF/cohesin-binding sites are frequently mutated in cancer.
Katainen R, Dave K, Pitkänen E, ..., Taipale J, Aaltonen LA
Nat. Genet. 47 (7) 818-821 [2015-07-00; online 2015-06-09]
Karolinska High Throughput Center (KHTC)
Dynamics of Cell Generation and Turnover in the Human Heart.
Bergmann O, Zdunek S, Felker A, ..., Druid H, Frisén J
Cell 161 (7) 1566-1575 [2015-06-18; online 2015-06-16]
Integrated Microscopy Technologies Stockholm [Service]
Zebrafish: A possible tool to evaluate bioactive ions.
Montazerolghaem M, Nyström L, Engqvist H, Karlsson Ott M
Acta Biomater 19 (-) 10-14 [2015-06-00; online 2015-03-17]
Genome Engineering Zebrafish
Differential Gene Regulation in Fibroblasts in Co-culture with Keratinocytes and Head and Neck SCC Cells.
Hakelius M, Saiepour D, Göransson H, ..., Gerdin B, Nowinski D
Anticancer Res. 35 (6) 3253-3265 [2015-06-00; online 2015-05-31]
Array and Analysis Facility
The impact of low-frequency and rare variants on lipid levels.
Surakka I, Horikoshi M, Mägi R, ..., Ripatti S, ENGAGE Consortium
Nat. Genet. 47 (6) 589-597 [2015-06-00; online 2015-05-12]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.
Coffee and Caffeine Genetics Consortium , Cornelis MC, Byrne EM, ..., van Dam RM, Chasman DI
Mol. Psychiatry 20 (5) 647-656 [2015-05-00; online 2014-10-08]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
NOTA: a potent metallo-β-lactamase inhibitor.
Somboro AM, Tiwari D, Bester LA, ..., Naicker T, Essack SY
J. Antimicrob. Chemother. 70 (5) 1594-1596 [2015-05-00; online 2015-01-06]
Drug Discovery and Development (DDD) [Collaborative]
Diagnostic urinary proteome profile for immunoglobulin a nephropathy.
Samavat S, Kalantari S, Nafar M, ..., Parvin M, Zubarev RA
Iran J Kidney Dis 9 (3) 239-248 [2015-05-00; online 2015-05-10]
Advanced Mass Spectrometry Proteomics
Genetically determined height and coronary artery disease.
Nelson CP, Hamby SE, Saleheen D, ..., Samani NJ, CARDIoGRAM+C4D Consortium
N. Engl. J. Med. 372 (17) 1608-1618 [2015-04-23; online 2015-04-09]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
Adiposity as a cause of cardiovascular disease: a Mendelian randomization study.
Hägg S, Fall T, Ploner A, ..., Ingelsson E, European Network for Genetic and Genomic Epidemiology Consortium
Int J Epidemiol 44 (2) 578-586 [2015-04-00; online 2015-05-27]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
Birth weight as an independent predictor of ADHD symptoms: a within-twin pair analysis.
Pettersson E, Sjölander A, Almqvist C, ..., Lichtenstein P, Larsson H
J Child Psychol Psychiatry 56 (4) 453-459 [2015-04-00; online 2014-07-22]
Mutation Analysis Facility (MAF)
Low elastin content of carotid plaques is associated with increased risk of ipsilateral stroke.
Asciutto G, Dias NV, Edsfeldt A, ..., Nilsson J, Gonçalves I
PLoS ONE 10 (3) e0121086 [2015-03-24; online 2015-03-24]
Clinical Biomarkers [Service]
New genetic loci link adipose and insulin biology to body fat distribution.
Shungin D, Winkler TW, Croteau-Chonka DC, ..., Lindgren CM, Mohlke KL
Nature 518 (7538) 187-196 [2015-02-12; online 2015-02-13]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
Associations between the 17q21 region and allergic rhinitis in 5 birth cohorts.
Fuertes E, Söderhäll C, Acevedo N, ..., Carlsten C, Melén E
J. Allergy Clin. Immunol. 135 (2) 573-576 [2015-02-00; online 2014-09-30]
Mutation Analysis Facility (MAF)
Defects of CRB2 cause steroid-resistant nephrotic syndrome.
Ebarasi L, Ashraf S, Bierzynska A, ..., Hildebrandt F, Majumdar A
Am. J. Hum. Genet. 96 (1) 153-161 [2015-01-08; online 2015-01-06]
Genome Engineering Zebrafish
A genetic study on C5-TRAF1 and progression of joint damage in rheumatoid arthritis.
van Steenbergen HW, Rodríguez-Rodríguez L, Berglin E, ..., Rantapää-Dahlqvist S, van der Helm-van Mil AH
Arthritis Res. Ther. 17 (-) 1 [2015-01-08; online 2015-01-08]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
A secretagogin locus of the mammalian hypothalamus controls stress hormone release.
Romanov RA, Alpár A, Zhang MD, ..., Hökfelt T, Harkany T
EMBO J. 34 (1) 36-54 [2015-01-02; online 2014-11-27]
Fluorescence Tissue Profiling
The Biobanking Analysis Resource Catalogue (BARCdb): a new research tool for the analysis of biobank samples.
Galli J, Oelrich J, Taussig MJ, ..., Ortega-Paino E, Landegren U
Nucleic Acids Res. 43 (Database issue) D1158-D1162 [2015-01-00; online 2014-10-23]
Affinity Proteomics Uppsala