High impact publications

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Recent publications with one or several authors from Karolinska Institutet in high impact journals.

The immunometabolite S-2-hydroxyglutarate regulates fate in CD8+ T-lymphocytes
Petros A. Tyrakis PA, Palazon A, Macias D, Lee KL, Phan AT, Veliça P, You J, Chia GS, Sim J, ADoedens A, Abelanet A, Evans CE, Griffiths JR, Poellinger L, Goldrath AW,  Johnson RS
Nature (2016) Online 26 October. Article.

Common variants at PVT1, ATG13–AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency
Bronson PG, ChangD, Bhangale T, Seldin MS, Ortmann W, Ferreira RC, Urcelay E, Fernández Pereira L, JMartin J, Plebani A, Lougaris V, Friman V, Freiberger T, Litzman J, Thon V, Pan-Hammarström Q, Hammarström L, Graham RG, Behrens TW
Nature Genetics (2016) Online 10 October. Letter.

Genome-wide association analysis identifies variation in vitamin D receptor and other host factors influencing the gut microbiota
Wang J, Thingholm, LB, Skieceviciene J et al.
Nature Genetics (2016) Online 10 October. Article.

Daratumumab, Lenalidomide, and Dexamethasone for Multiple Myeloma
Dimopoulos MA, Oriol A, Nahi H et al.
NEJM (2016) Online 6 October. Original Article. 

Pooled Analysis of CNS Response to Alectinib in Two Studies of Pretreated Patients With ALK-Positive Non–Small-Cell Lung Cancer
Gadgeel SM, Shaw AT, Govindan R et al.
JCO (2016) Online 3 October. Original Reports.

Initial seeding of the embryonic thymus by immune-restricted lympho-myeloid progenitors
Luis TC, Luc S, Mizukami T, Boukarabila H, Thongjuea S, Woll PS, Azzoni E, Giustacchini A, Lutteropp M, Bouriez-Jones T, Vaidya H, Mead AJ, Atkinson D, Böiers C, Carrelha J, Macaulay IC, Patient R, Geissmann F, Nerlov C, Sandberg R, de Bruijn M, Blackburn CC, Godin I, Jacobsen SEW
Nature Immunology (2016) Online 3 October. Article.

Analysis of allelic expression patterns in clonal somatic cells by single-cell RNA-seq
Reinius B, Mold JE, Ramsköld D, Deng Q, Johnsson P, Michaëlsson J, Frisén J and Sandberg R
Nature Genetics (2016) Online 26 September. Letter.
On KI News: How our cells use mother’s and father’s genes

Gene expression elucidates functional impact of polygenic risk for schizophrenia
Fromer M, Roussos P, Sieberts SK et al.
Nature Neuroscience (2016) online 26 September. Article.

TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons
Caubit X, Gubellini P, Andrieux J et al.
Nature Genetics (2016) online 26 september. Article.

Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps
Iotchkova V, Huang J, Morris JA et al  
Nature Genetics (2016) online 26 september. Analysis.

Single-Cell Transcriptome Profiling of Human Pancreatic Islets in Health and Type 2 Diabetes
Segerstolpe Å, Palasantza A, Eliasson P, Andersson E, Andréasson A, Sun X, Picelli S, Sabirsh A, Clausen M, Bjursell MK, Smith DM, Kasper M, Ämmälä C, Sandberg R
Cell Metabolism (2016) Online 22 September. Resource.
On KI News: Unique molecular atlas of pancreas produced

Risk for Congenital Malformation With H1N1 Influenza Vaccine: A Cohort Study With Sibling Analysis
Ludvigsson JF, Ström P, Lundholm C, Cnattingius S, Ekbom A, Örtqvist Å, Feltelius N, Granath F, Stephansson O
Annals of Internal Medicine (2016) Online 20 September 2016. Original research.
On KI News: Swine flu jab harmless to unborn babies

Measuring the health-related Sustainable Development Goals in 188 countries: a baseline analysis from the Global Burden of Disease Study 2015
GBD 2015 SDG Collaborators
The Lancet (2016) Online 21 September. Article.

Beyond too little, too late and too much, too soon: a pathway towards evidence-based, respectful maternity care worldwide
Miller S, Abalos E, Chamillard M, Ciapponi A, Colaci D, Comandé D, Diaz V, Geller S,  Hanson C,  Langer A, Manuelli V, Millar K, Morhason-Bello I, Pileggi Castro C, Nogueira Pileggi V, Robinson N, Skaer M,  Souza JP, Vogel JP, Althabe F
The Lancet (2016) Online 16 September. Series.

Drivers of maternity care in high-income countries: can health systems support woman-centred care?
Shaw D, Guise J-M, Shah N, Gemzell-Danielsson K, Joseph KS, Levy B, Wong F, Woodd S, Main EK
The Lancet (2016) Online 16 September. Series.

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals
Ehret GB, Ferreira T,  Chasman DI et al.
Nature Genetics (2016) Online 12 September. Article.

Sunscreen Use and Subsequent Melanoma Risk: A Population-Based Cohort Study
Reza Ghiasvand R, Weiderpass E, Green AC, Lund E,  Veierød MB
JCO (2016) Online 12 September. Original Report.

Blood pressure regulation by CD4+ lymphocytes expressing choline acetyltransferase
Olofsson PS, Steinberg BE, Sobbi R, Cox MA, Ahmed MN, Oswald M, Szekeres F, Hanes WM, Introini A, Fang Liu S, Holodick NE, Rothstein TL, Lövdahl C, Chavan SS, Yang H, Pavlov VA, Broliden K, Andersson U, Diamond B, Miller EJ, Arner A, Gregersen PK, Backx PH, Mak TW, Tracey KJ
Nature Biotechnology (2016) Online 12 September. Letter.
On KI News: Immune cells can regulate blood pressure

Glioma-induced caspase-3 inhibition in microglia promotes a tumor-supportive phenotype
Shen X, Burguillos MA, Osman AM, Frijhoff J, Carrillo-Jiménez A, Kanatani S, Augsten M, Saidi D, Rodhe J, Kavanagh E, Rongvaux A, Rraklli V, Nyman U, Holmberg J, Östman A, Flavell RA, Barragan A, Venero JL, Blomgren K, Joseph B
Nature Immunology (2016) Online 12 September. Article.
On KI News: Study explains mechanisms behind glioblastoma influence on the immune system

Novel glucose-sensing technology and hypoglycaemia in type 1 diabetes: a multicentre, non-masked, randomised controlled trial
Bolinder J, Antuna R, Geelhoed-Duijvestijn P, Kröger J, Weitgasser R
The Lancet (2016) Online 12 September. Article.
On KI News: New technique improves blood sugar control for people with diabetes

Adenosine-to-inosine RNA editing controls cathepsin S expression in atherosclerosis by enabling HuR-mediated post-transcriptional regulation
Stellos K, Gatsiou A, Stamatelopoulos K, Perisic Matic L, John D, Francesca Lunella F, Jaé N, Rossbach O, Amrhein C, Sigala F, Boon RA, Fürtig B, Manavski Y, You X, Uchida S, Keller T, Boeckel J-N, Franco-Cereceda A, Maegdefessel L, Chen W, Schwalbe H, Bindereif A, Eriksson P, Hedin U, Zeiher AM, Dimmeler S
Nature Medicine (2016) Online 5 September. Article.

Origin of the U87MG glioma cell line: Good news and bad news
Allen M, Bjerke M, Edlund H, Nelander S, Westermark B
Science Translational Medicine (2016) Online 31 August. Report.

Visceral motor neuron diversity delineates a cellular basis for nipple- and pilo-erection muscle control
Furlan A, La Manno G, Lübke M, Häring M, Abdo H, Hochgerner H, Kupari J, Usoskin D, Airaksinen MS , Oliver G, Linnarsson S,  Ernfors P
Nature Neuroscience (2016) Online 29 August. Article.
On KI News: Special nerve cells cause goose bumps and nipple erection

An AMPK-stabilizing peptide ameliorates adipose tissue wasting in cancer cachexia in mice
Rohm M, Schäfer M, Laurent V, Üstünel BE, Niopek K, Algire C, Hautzinger O, Sijmonsma TP, Zota A, Medrikova D, Pellegata NS, Ryden M, Kulyte A, Dahlman I, Arner P, Petrovic N, Cannon B, Amri E-Z, Kemp BE, Steinberg GR, Janovska P, Kopecky J, Wolfrum C, Blüher M, Berriel Diaz M, Herzig S
Nature Medicine (2016) Online 29 August. Article.

Disentangling neural cell diversity using single-cell transcriptomics
Poulin J-F, Tasic B, Hjerling-Leffler J, Trimarchi JM, Awatramani R
Nature Neuroscience (2016) Online 26 August. Review.

Bariatric Surgery and Preterm Birth
Stephansson O, Johansson K, Näslund  I, Neovius M
NEJM (2016) Online 24 August. Letter to the Editor.
On KI News: Obesity surgery increases the risk of preterm birth

Restricted diet delays accelerated ageing and genomic stress in DNA-repair-deficient mice
Vermeij WP, Dollé MET, Reiling E et al.
Nature (2016) Online 24 August. Letter.

Cardiometabolic risk loci share downstream cis- and trans-gene regulation across tissues and diseases
Franzén O, Ermel R, Cohain A, Akers NK, Di Narzo A, Talukdar HA, Foroughi-Asl HGiambartolomei C, Fullard JF, Sukhavasi K, Köks S, Gan L-M, Giannarelli C, Kovacic JC, Betsholtz CLosic B, Michoel T, Hao K,1 Roussos P, Skogsberg JRuusalepp A, Schadt EE, Björkegren JLM
Science (2016) Online 19 August. Report.
On KI News: Genes responsible for risk of heart attack, stroke, and related cardiometabolic diseases identified

Analysis of protein-coding genetic variation in 60,706 humans
Lek M, Karczewski KJ, Minikel EV et al
Nature (2018) Online 18 August. Article.
On KI News: Deep genetic catalog powers studies of disease and dna variation

Pioglitazone use and risk of bladder cancer in patients with type 2 diabetes: retrospective cohort study using datasets from four European countries
Pasi Korhonen P, Heintjes EM, Williams R, Hoti F, Christopher S, Majak M, Kool-Houweling L, Strongman H, Linder M, Dolin P, Bahmanyar S.
BMJ (2016) Online 16 August. Research.

Metabolic Control of Longevity
López-Otín C, Galluzzi L, Freije JMP, Madeo F, Kroemer G
Cell (2016) Online 11 August. Review.

The chaperone co-inducer BGP-15 alleviates ventilation-induced diaphragm dysfunction
Salah H, Li M, Cacciani N, Gastaldello S, Ogilvie H, Akkad H, Namuduri AV, Morbidoni V, Artemenko KA, Balogh G, Martinez-Redondo V, Jannig P, Hedström Y, Dworkin BBergquist J, Ruas J, Vigh L, Salviati L, Larsson L
Science Translational Medicine (2016) Online 3 August. Research Article.

C13orf31 (FAMIN) is a central regulator of immunometabolic function
Cader MZ, Boroviak K, Zhang Q, Assadi G, Kempster SL, Sewell GW, Saveljeva S, Ashcroft JW, Clare S, Mukhopadhyay S, Brown KP, Tschurtschenthaler M, Raine T, Doe B, Chilvers ER, Griffin JL, Kaneider NC, Floto RA, D’Amato M, Bradley A, Wakelam MJO, Dougan G & Kaser A
Nature Immunology (2016) Online 1 August. Article.

A pleiotropic missense variant in SLC39A8 is associated with Crohn’s disease and human gut microbiome composition
Li D, Achkar J-P, Haritunians T et al.
Gastroentereology (2016) Online1  August. Article in press.

Enantioselective Organocatalyzed Transformations of β-Ketoesters
Govender T, Arvidsson PI, Maguire GEM, Kruger HG & Naicker T.
Chemical Reviews (2016) Online 27 July. Review.

Principles for RNA metabolism and alternative transcription initiation within closely spaced promoters
Chen Y, Pai A, Herudek J, Lubas M, Meola N, Järvelin AI, Andersson R, Pelechano V,  Steinmetz L, Heick Jensen T, Jensen H, Sandelin A.
Nature Genetics (2016) Online 25 July. Analysis.

CD47-blocking antibodies restore phagocytosis and prevent atherosclerosis
Kojima Y, Volkmer J-P,  McKenna K, Civelek, Lusis AJ, Miller CL, Direnzo D, Nanda V, Ye J, Connolly AJ, Schadt EE, Quertermous T, Betancur P,  Maegdefessel L, Perisic Matic L , Hedin U, Weissman IL, Leeper NJ.
Nature (2016) Online 20 July. Letter.

Effects of alteplase on survival after ischaemic stroke (IST-3): 3 year follow-up of a randomised, controlled, open-label trial
Berge E, Cohen G, Roaldsen M, Lundström E, Isaksson E, Rudberg A-S, Bruins Slot K, Forbes J, Smith J, Drever J, Wardlaw J, Sandercock P, Whiteley
The Lancet Neurology (2016) Online 19 July. Article.

Cloche is a bHLH-PAS transcription factor that drives endothelial and hematopoietic specification
Reischauer S, Stone OA, Villasenor A et al.
Nature (2016) Online 14 July. Letter. 

The global burden of viral hepatitis from 1990 to 2013: findings from the Global Burden of Disease Study 2013.
Stanaway JD, Flaxman AD, Naghavi M et al.
The Lancet (2016) Online July 6. Article.

Use of evidence based practices to improve survival without severe morbidity for very preterm infants: results from the EPICE population based cohort 
Zeitlin J, Manktelow BN, Piedvache A et al.
BMJ (2016) Online 5 July. Research.
Editorial: Lost in translation – evidence to improve outcomes of very preterm infants

The role of enhancers in cancer
Sur I, Taipale J
Nature Reviews Cancer (2016). Online 1 July. Review.

Patient focused registries can improve health, care, and science
Nelson EC, Dixon-Woods M, Batalden PB, Homa K, Van Citters AD,
Morgan TS, Eftimovska E, Fisher ES, Ovretveit J,  Harrison W,  Lind C, Lindblad S
BMJ (2016) Online 1 July. Analysis.  

Visualization and analysis of gene expression in tissue sections by spatial transcriptomics
Ståhl PL, Salmén F, Vickovic S, Lundmark A, Fernández Navarro J, Magnusson J, Giacomello S, Asp M, Westholm JO, Huss M, Mollbrink A, Linnarsson SCodeluppi S, Borg Å, Pontén F, Costea PI, Sahlén P, Mulder J, Bergmann O, Lundeberg J, Frisén J
Science (2016) Online 1 July. Report.
On KI News: New method provides better information on gene expression

Transmission of Neurodegenerative Disorders Through Blood Transfusion: A Cohort Study
Edgren G, Hjalgrim H, Rostgaard K, Lambert P, Wikman A, Norda R, Titlestad K-E, Erikstrup C, Ullum H, Melbye M, Busch MP, Nyrén O
Annals of Internal Medicine (2016) Online 28 June. Original Research.
On KI News: No risk of contracting dementia through blood transfusion

Single-cell 5hmC sequencing reveals chromosome-wide cell-to-cell variability and enables lineage reconstruction
Mooijman D, Dey SS, Boisset J-C, Crosetto N, van Oudenaarden A
Nature Biotechnology (2016) Online 27 June. Letter.

Life Expectancy of Patients With Chronic Myeloid Leukemia Approaches the Life Expectancy of the General Population
Bower HBjörkholm MDickman PW, Höglund M, Lambert  PC, Andersson TML
Journal of Clinical Oncology (2016) Online 20 June. Original Report.

Ovarian Cancer Risk Factors by Histologic Subtype: An Analysis From the Ovarian Cancer Cohort Consortium
Wentzensen N, Poole EM, Trabert B et al.
Journal of Clinical Oncology (2016) Online 20 June. Original Report.

Chronic p53-independent p21 expression causes genomic instability by deregulating replication licensing
Galanos P, Vougas K, Walter D et al.
Nature Cell Biology (2016) Online 20 June. Article.

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine
Gormley P, Anttila V, Winsvold BS et al.
Nature Genetics (2016) Online 20 June. Article.

Cardiovascular Events Associated with use of Tyrosine Kinase Inhibitors in Chronic Myeloid Leukemia. A Population-Based Cohort Study
Dahlén T, Edgren G, Lambe M, Höglund M, Björkholm M, Sandin F, Själander A, Richter J, Olsson-Strömberg U, Ohm L, Bäck M, Stenke L
Annals of Internal Medicine (2016) Online 14 Juni. Original Research.

Exercise Promotes Healthy Aging of Skeletal Muscle
Cartee GD, Hepple RT, Bamman MM, Zierath JR
Cell Metabolism (2016) Online 14 June. Perspective.

Oligodendrocyte heterogeneity in the mouse juvenile and adult central nervous system
Marques S, Zeisel A, Codeluppi S, van Bruggen D, Mendanha Falcão A, Xiao L, Huiliang L, Häring M, Hochgerner H, Romanov RA, Gyllborg D, Muñoz Manchado A, La Manno G, Lönnerberg P, Floriddia EM, Rezayee F, Ernfors P, Arenas EHjerling-Leffler J, Harkany T, Richardson WD, Linnarsson S, Castelo-Branco G
Science (2016) Online 9 June. Report. 
On KI News: Nerve-insulating cells more diverse than previously thought

Age- and Tumor Subtype–Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers
Schmidt MK, Hogervorst F, van Hien R et al.
JCO (2016) Online 6 June. Original Report.

Comparative Effectiveness of Treatment Strategies for Bladder Cancer With Clinical Evidence of Regional Lymph Node Involvement 
Galsky MD, Stensland K, Sfakianos JP, Mehrazin R, Diefenbach M, Mohamed N, Tsao C-K, Boffetta P, Wiklund P, Oh WK, Mazumdar M, Ferket B
JCO (2016) Online 6 June. Original Report.

Loss of the corepressor GPS2 sensitizes macrophage activation upon metabolic stress induced by obesity and type 2 diabetes
Fan R, Toubal A, Goñi S, Drareni K, Huang Z, Alzaid F, Ballaire R, Ancel P, Liang N, Damdimopoulos A, Hainault I, Soprani A, Aron-Wisnewsky J, Foufelle F, Lawrence T, Gautier J-F, Venteclef N, Treuter E
Nature Medicine (2016) Online 6 June. Article.
On KI News: Epigenomic alterations contribute to obesity-associated diabetes

Drugging DNA Repair – Inhibiting DNA repair can have a positive outcome for various therapeutic interventions
Jackson SP, Helleday T
Science (2016) Online 3 June. Perspective.

Adjuvant-dependent innate and adaptive immune signatures of risk of SIVmac251 acquisition
Vaccari M, Gordon SN, Fourati S et al.
Nature Medicine (2016) Online 30 May. Article.

The neuroscience of working memory capacity and training
Constantinidis C, Klingberg T
Nature Reviews Neuroscience (2016) Online 26 May. Review.

Proteogenomics connects somatic mutations to signaling in breast cancer
Mertins P, Mani DR, Ruggles KV et al.
Nature (2016) Online 25 May. Article.

Deep sequencing of the MHC region in the Chinese population contributes to studies of complex
Zhou F, Cao H, Zuo X et al.
Nature Genetics (2016) Online 23 May. Article.

A method to decipher pleiotropy by detecting underlying heterogeneity driven by hidden subgroups applied to autoimmune and neuropsychiatric diseases
Han B, Pouget JP, Slowikowski K et al.
Nature Genetics (2016) Online 16 May. Technical Report.

Protection against malaria at 1 year and immune correlates following PfSPZ vaccination
Ishizuka AS, Lyke KE, DeZure A et al.
Nature Medicine (2016) Online 9 May. Article.

Five endometrial cancer risk loci identified through genome-wide association analysis
Cheng THT, Thompson DJ, O'Mara TA et al
Nature Genetics (2016) Online 2 May. Letter.

Origin, fate and dynamics of macrophages at central nervous system interfaces
Goldmann T, Wieghofer P, Costa Jordão MJ et al
Nature Immunology (2016) Online 2 May. Article.

Fundamentals of Neurogastroenterology: Physiology/Motility – Sensation
Boeckxstaens G, Camilleri M, Sifrim D, Houghton LA, Elsenbruch S, Lindberg G, Azpiroz F, Parkman HP
Gastroenterology (2016) Online 1 May. Original research article.

ESC working group position paper on myocardial infarction with non-obstructive coronary arteries
Agewall S, Beltrame JF, Reynolds HR, Niessner A, Rosano G, Caforio ALP, De Caterina R, Zimarino M, Roffi M, Kjeldsen K, Atar D, Kaski JC, Sechtem U, Tornvall P – on behalf of the WG on Cardiovascular Pharmacotherapy
European Heart Journal (2016) Online 28 April. Current Opinion.  

Health anxiety: the silent, disabling epidemic
Tyrer P, Eilenberg T, Fink P, Hedman E, Tyrer H
BMJ (2016) Online 25 April. Editorial.

Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses
Okbay A, Baselmans BML, De Neve J-E et al.
Nature Genetics (2016) Online 18 April. Article.

A Case-Control Study of Risk Markers and Mortality in Takotsubo Stress Cardiomyopathy
Tornvall P, Collste O, Ehrenborg E, Järnbert-Pettersson H
JACC (2016) Online 18 April. Original Investigation.
On KI News: Broken heart linked to other risk factors than heart attack

Recurrent activating mutations of G-protein-coupled receptor CYSLTR2 in uveal melanoma
Moore AR, Ceraudo E, Sher JJ et al.
Nature Genetics (2016) Online 18 April. Letter.

Iron alters valvular interstitial cell function and is associated with calcification in aortic stenosis
Laguna-Fernandez A, Carracedo M, Jeanson G, Nagy E, Eriksson P, Caligiuri G, Franco-Cereceda A, Bäck M
European Heart Journal (2016) Online 18 April. Brief Communication.

Impact of Donor Epstein-Barr Virus Serostatus on the Incidence of Graft-Versus-Host Disease in Patients With Acute Leukemia After Hematopoietic Stem-Cell Transplantation: A Study From the Acute Leukemia and Infectious Diseases Working Parties of the European Society for Blood and Marrow Transplantation
Styczynski J, Tridello G , Gil L, Ljungman P et al
Journal of Clinical Oncology (2016) Online 18 April. Original Report.

A Randomized, Controlled Trial of Fusion Surgery for Lumbar Spinal Stenosis
Försth P, Ólafsson G, Carlsson T, Frost A, Borgström F, Fritzell P, Öhagen P, Michaëlsson K, Sandén S
NEJM (2016) Online 14 April. Original Article.

Age-dependent modulation of vascular niches for haematopoietic stem cells
Kusumbe AP, Ramasamy SK, Itkin T, Andaloussi Mäe M, Langen UH, Betsholtz C, Lapidot T, Adams RH
Nature (2016) Online 13 April. Letter.

Single-Cell RNA-Seq Reveals Lineage and X Chromosome Dynamics in Human Preimplantation Embryos
Petropoulos S, Edsgärd D, Reinius B, Deng Q, Panula SP, Codeluppi S, Plaza Reyes A, Linnarsson S, Sandberg R, Lanner F
Cell (2016). Online 7 April. Resource.
On KI News: Fresh insights into early human embryo development

Cyclodextrin promotes atherosclerosis regression via macrophage reprogramming
Zimmer S, Grebe A, Bakke SS, Bode N, Halvorsen B, Ulas T, Skjelland M, De Nardo D, Labzin LI, Kerksiek A, Hempel C, Heneka MT, Hawxhurst V, Fitzgerald ML, Trebicka J, Björkhem IGustafsson J-Å,  Westerterp M, Tall AR, Wright SD,  Espevik T,  Schultze JL,  Nickenig G,  Lütjohann D,  Latz E
Science Translational Medicine (2016) Online 6 April. Research Article.

Scoring System Prognostic of Outcome in Patients Undergoing Allogeneic Hematopoietic Cell Transplantation for Myelodysplastic Syndrome
Shaffer BC,  Ahn KW, Hu Z-H et al.
Journal of Clinical Oncology (2016). Online 4 April. Original Report.