MOLECULAR GENETICS

Original articles Vineta Fellman
Kallijärvi J, Fellman V. Rapamycin - ”One size does not fit all”. EBioMedicine 42: 30-31, 2019 (doi:10.1016/j.ebiom.2019.03.079)
Kiuru A, Ahola T, Klenberg L, Tommiska V, Lano A, Kleemola P, Haavisto A, Fellman V. Postnatal N-acetylcysteine does not provide neuroprotection in extremely low birth weight infants: A follow-up of a randomized controlled trial. Early Hum Dev 132: 13-17, 2019 (doi: 10.1016/j.earlhumdev.2019.05.004)
Högberg U, Squier W, Andersson J, Högberg G, Fellman V, Thiblin I, Wester K. Do inter-country differences in the frequency of abusive head trauma reflect different proportions of overdiagnosis of abuse or true differences of abuse? J Epidemiol, Jun 8, 2019 [Epub ahead of print] (doi: 10.2188/jea.JE20190066)
Högberg U, Winbo J, Fellman V. Population-based register study of children born in Sweden from 1997 to 2014 showed an increase in rickets during infancy. Acta Paediatr 108: 2034-2040, 2019 (doi: 10.1111/apa.14835)
Purhonen J, Rajendran J, Tegelberg S, Smolander O-P, Pirinen E, Kallijärvi J, Fellman V. NAD+ repletion produces no therapeutic effect in mice with respiratory chain complex III deficiency and chronic energy deprivation. FASEB J 32: 5913-5926, 2018* (doi: 10.1096/fj.201800090R) *Fattades från 2018 års PR-skrift
Rajendran J, Purhonen J, Tegelberg S, Smolander O-P, Mörgelin M, Rozman J, Gailus-Durner V, Fuchs H, Hrabe de Angelis M, Auvinen P, Mervaala E, Jacobs HT, Szibor M, Fellman V, Kallijärvi J. Alternative oxidase-mediated respiration prevents lethal mitochondrial cardiomyopathy. EMBO Mol Med 11(1). pii: e9456, 2019 (doi: 10.15252/emmm.201809456)
Tomašić N, Kotarsky H, de Oliveira Figueiredo R, Hansson E, Mörgelin M, Tomašić I, Kallijärvi J, Elmér E, Jauhiainen M, Eklund EA, Fellman V. Fasting reveals largely intact systemic lipid mobilization mechanisms in respiratory chain complex III deficient mice. Biochim Biophys Acta Mol Basis Dis 1866: 165573 (2020) [Epub ahead of print]2019 Oct 29 (doi:10.1016/j.bbadis.2019.165573)

Original articles Juha Kere
Einarsdottir E, Pekkinen M, Krjutškov K, Katayama S, Kere J, Mäkitie O, Viljakainen H. A preliminary transcriptome analysis suggests a transitory effect of vitamin D on mitochondrial function in obese young Finnish subjects. Endocr Connect 8: 559-570, 2019 (doi:10.1530/EC-18-0537)
Fyhrquist N, Muirhead G, Prast-Nielsen S, Jeanmougin M, Olah P, Skoog T, Jules-Clement G, Feld M, Barrientos-Somarribas M, Sinkko H, van den Bogaard EH, Zeeuwen PLJM, Rikken G, Schalkwijk J, Niehues H, Däubener W, Eller SK, Alexander H, Pennino D, Suomela S, Tessas I, Lybeck E, Baran AM, Darban H, Gangwar RS, Gerstel U, Jahn K, Karisola P, Yan L, Hansmann B, Katayama S, Meller S, Bylesjö M, Hupé P, Levi-Schaffer F, Greco D, Ranki A, Schröder JM, Barker J, Kere J, Tsoka S, Lauerma A, Soumelis V, Nestle FO, Homey B, Andersson B, Alenius H. Microbe-host interplay in human skin homeostasis, atopy and autoimmunity. Nat Commun 10: 4703, 2019 (https://doi.org/10.1038/s41467-019-12253-y)
Gaertner VD, Michel S, Curtin J, Pulkkinen V, Acevedo N, Söderhäll C, von Berg A, Bufe A, Laub O, Rietschel E, Heinzmann A, Simma B, Vogelberg C, Pershagen G, Melén E, Custovic A, Kere J, Kabesch M. Nocturnal asthma is affected by genetic interactions between RORA and NPSR1. Pediatr Pulmonol 54: 847-857, 2019 (doi:10.1002/ppul.24292)
Gialluisi A, Andlauer TFM, Mirza-Schreiber N, Moll K, Becker J, Hoffmann P, Ludwig KU, Czamara D, St Pourcain B, Brandler W, Honbolygó F, Tóth D, Csépe V, Huguet G, Morris AP, Hulslander J, Willcutt EG, DeFries JC, Olson RK, Smith SD, Pennington BF, Vaessen A, Maurer U, Lyytinen H, Peyrard-Janvid M, Leppänen PHT, Brandeis D, Bonte M, Stein JF, Talcott JB, Fauchereau F, Wilcke A, Francks C, Bourgeron T, Monaco AP, Ramus F, Landerl K, Kere J, Scerri TS, Paracchini S, Fisher SE, Schumacher J, Nöthen MM, Müller-Myhsok B, Schulte-Körne G. Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia. Transl Psychiatry 9: 77, 2019 (doi:10.1038/s41398-019-0402-0)
Gruzieva O, Merid SK, Chen S, Mukherjee N, Hedman AM, Almqvist C, Andolf E, Jiang Y, Kere J, Scheynius A, Söderhäll C, Ullemar V, Karmaus W, Melén E, Arshad HS, Pershagen G. DNA methylation trajectories during pregnancy. Epigenet Insights 12: 2516865719867090, 2019 (doi:10.1177/2516865719867090)
Göös H, Fogarty CL, Sahu B, Plagnol V, Rajamäki K, Nurmi K, Liu X, Einarsdottir E, Jouppila A, Pettersson T, Vihinen H, Krjutskov K, Saavalainen P, Järvinen A, Muurinen M, Greco D, Scala G, Curtis J, Nordström D, Flaumenhaft R, Vaarala O, Kovanen PE, Keskitalo S, Ranki A, Kere J, Lehto M, Notarangelo LD, Nejentsev S, Eklund KK, Varjosalo M, Taipale J, Seppänen MRJ. Gain-of-function CEPBE mutation causes non-canonical autoinflammatory inflammasopathy. J All Clin Immunol 144: 1364-1376, 2019 (doi:10.1016/j.jaci.2019.06.003)
Hirabayashi S, Bhagat S, Matsuki Y, Takegami Y, Uehata T, Kanemaru A, Itoh M, Shirakawa K, Takaori-Kondo A, Takeuchi O, Carninci P, Katayama S, Hayashizaki Y, Kere J, Kawaji H, Murakawa Y. NET-CAGE characterizes the dynamics and topology of human transcribed cis-regulatory elements. Nat Genet 51: 1369-1379, 2019 (doi: 10.1038/s41588-019-0485-9)
Jääskeläinen T, Heinonen S, Hämäläinen E, Pulkki K, Romppanen J, Laivuori H; FINNPEC. Impact of obesity on angiogenic and inflammatory markers in the Finnish Genetics of Pre-eclampsia Consortium (FINNPEC) cohort. Int J Obes (Lond) 43: 1070-1081, 2019 (doi: 10.1038/s41366-018-0217-8)
Katayama S, Panelius J, Koskenmies S, Skoog T, Mähönen K, Kisand K, Bondet V, Duffy D, Krjutškov K, Kere J, Ranki A. Delineating the healthy human skin UV response and early induction of interferon pathway in cutaneous lupus erythematosus. J Invest Dermatol 139: 2058-2061.e4, 2019 (doi: 10.1016/j.jid.2019.02.035)
Katayama S, Skoog T, Söderhäll C, Einarsdottir E, Krjutškov K, Kere J. Guide for library design and bias correction for large-scale transcriptome studies using highly multiplexed RNAseq methods. BMC Bioinformatics 20: 418, 2019 (doi: 10.1186/s12859-019-3017-9)
Keskitalo S, Haapaniemi E, Einarsdottir E, Rajamäki K, Heikkilä H, Ilander MM, Pöyhönen M, Morgunova E, Hokynar K, Lagström S, Kivirikko S, Mustjoki S, Eklund K, Saarela J, Kere J, Seppänen MRJ, Ranki A, Hannula-Jouppi K, Varjosalo M. Novel TMEM173 mutation and the role of disease modifying alleles. Front Immunol 10: 2770, 2019 (doi: 10.3389/fimmu.2019.02770)
Keskitalo S, Haapaniemi EM, Glumoff V, Liu X, Lehtinen V, Fogarty C, Rajala H, Chiang SC, Mustjoki S, Kovanen P, Lohi J, Bryceson YT, Seppänen M, Kere J, Heiskanen K, Varjosalo M. Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease. NPJ Genom Med 4: 14, 2019 (doi: 10.1038/s41525-019-0088-5)
Küpers LK, Monnereau C, Sharp GC, Yousefi P, Salas LA, Ghantous A, Page CM, Reese SE, Wilcox AJ, Czamara D, Starling AP, Novoloaca A, Lent S, Roy R, Hoyo C, Breton CV, Allard C, Just AC, Bakulski KM, Holloway JW, Everson TM, Xu C-J, Huang R-C, van der Plaat DA, Wielscher M, Kebede Merid S, Ullemar V, Rezwan FI, Lahti J, van Dongen J, Langie SAS, Richardson TG, Magnus MC, Nohr EA, Xu Z, Duijts L, Zhao S, Zhang W, Plusquin M, DeMeo DL, Solomon O, Heimovaara JH, Jima DD, Gao L, Bustamante M, Perron P, Wright RO, Hertz-Picciotto I, Zhang H, Karagas MR, Gehring U, Marsit CJ, Beilin LJ, Vonk JM, Jarvelin M-R, Bergström A, Örtqvist AK, Ewart S, Villa PM, Moore SE, Willemsen G, Standaert ARL, Håberg SE, Sørensen TIA, Taylor JA, Räikkönen K, Yang IV, Kechris K, Nawrot TS, Silver MJ, Richiardi L, Kogevinas M, Litonjua A, Eskenzi B, Mbarek H, Maguire RL, Dwyer T, Vrijheid M, Bouchard L, Baccarelli AA, Croen LA, Karmaus W, Anderson D, de Vries M, Sebert S, Kere J, Karlsson R, Arshad SH, Hämäläinen E, Routledge MN, Boomsma DI, Feinberg AP, Newschaffer CJ, Govarts E, Moisse M, Fallin MD, Melén E, Prentice AM, Kajantie E, Almqvist C, Oken E, Dabelea D, Boezen HM, Melton PE, Wright RJ, Koppelman GH, Trevisi L, Hivert M-F, Sunyer J, Munthe-Kaas MC, Murphy SK, Corpeleijn E, Wiemels J, Holland N, Herceg Z, Binder E, Smith GD, Jaddoe VWV, Lie RT, Nystad W, London SJ, Lawlor DA, Relton CL, Snieder H, Felix JF. Meta-analysis of epigenome-wide association studies in neonates reveals widespread differential methylation associated with birthweight. Nat Commun 10: 1893, 2019 (doi: 10.1038/s41467-019-09111-2)
Lagus H, Klaas M, Juteau S, Elomaa O, Kere J, Vuola J, Jaks V, Kankuri E. Discovery of increased epidermal DNAH10 expression after regeneration of dermis in a randomized with-in person trial — reflections on psoriatic inflammation. Sci Rep 9: 19136, 2019 (doi: 10.1038/s41598-019-53874-z)
Larson ED, Magno JPM, Steritz MJ, Llanes EGDV, Cardwell J, Pedro M, Roberts TB, Einarsdottir E, Rosanes RAQ, Greenlee C, Santos RAP, Yousaf A, Streubel SO, Santos ATR, Ruiz AG, Lagrana-Villagracia SM, Ray D, Yarza TKL, Scholes MA, Anderson CB, Acharya A; University of Washington Center for Mendelian Genomics, Gubbels SP, Bamshad MJ, Cass SP, Lee NR, Shaikh RS, Nickerson DA, Mohlke KL, Prager JD, Cruz TLG, Yoon PJ, Abes GT, Schwartz DA, Chan AL, Wine TM, Cutiongco-de la Paz EM, Friedman N, Kechris K, Kere J, Leal SM, Yang IV, Patel JA, Tantoco MLC, Riazuddin S, Chan KH, Mattila PS, Reyes-Quintos MRT, Ahmed ZM, Jenkins HA, Chonmaitree T, Hafrén L, Chiong CM, Santos-Cortez RLP. A2ML1 and otitis media: novel variants, differential expression and relevant pathways. Hum Mutat 40: 1156-1171, 2019 (doi: 10.1002/humu.23769)
Leppäaho E, Renvall H, Salmela E, Kere J, Salmelin R, Kaski S. Discovering heritable modes of MEG spectral power. Hum Brain Mapp 40: 1391-1402, 2019 (doi: 10.1002/hbm.24454)
Madissoon E, Damdimopoulos A, Katayama S, Krjutškov K, Einarsdottir E, Mamia K, De Groef B, Hovatta O, Kere J, Damdimopoulou P. Pleomorphic Adenoma Gene 1 is needed for timely zygotic genome activation and early embryo development. Sci Rep 9: 8411, 2019 (doi: 10.1038/s41598-019-44882-0)
Olivé M, Engvall M, Ravenscroft G, Cabrera-Serrano M, Jiao H, Bortolotti CA, Pignataro M, Lambrughi M, Jiang H, Forrest ARR, Benseny-Cases N, Hofbauer S, Obinger C, Battistuzzi G, Bellei M, Borsari M, Di Rocco G, Viola HM, Hool LC, Cladera J, Lagerstedt-Robinson K, Xiang F, Wredenberg A, Miralles F, Baiges JJ, Malfatti E, Romero NB, Streichenberger N, Vial C, Claeys KG, Straathof CSM, Goris A, Freyer C, Lammens M, Bassez G, Kere J, Clemente P, Sejersen T, Udd B, Vidal N, Ferrer I, Edström L, Wedell A, Laing NG. Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions. Nat Commun 10: 1396, 2019 (doi: 10.1038/s41467-019-09111-2)
Reichhardt MP, Lundin K, Lokki AI, Recher G, Vuoristo S, Katayama S, Tapanainen JS, Kere J, Meri S, Tuuri T. Complement in human pre-implantation embryos: attack and defense. Front Immunol 10: 2234, 2019 (doi: 10.3389/fimmu.2019.02234)
Takeda K, Kou I, Otomo N, Grauers A, Fan YH, Ogura Y, Takahashi Y, Momozawa Y, Einarsdottir E, Kere J, Japan Scoliosis Clinical Research Group (JSCRG), Matsumoto M, Qiu Y, Song Y-Q, Gerdhem P, Watanabe K, Ikegawa S. A multiethnic meta-analysis defined the association of rs12946942 with severe adolescent idiopathic scoliosis. J Hum Genet 64: 493-498, 2019 (doi: 10.1038/s10038-019-0575-7)
Vakkilainen S, Skoog T, Einarsdottir E, Middleton A, Pekkinen M, Öhman T, Katayama S, Krjutškov K, Kovanen PE, Varjosalo M, Lindqvist A, Kere J, Mäkitie O. The human long non-coding RNA gene RMRP has pleiotropic effects and regulates cell-cycle progression at G2. Sci Rep 9: 13758, 2019 (doi: 10.1038/s41598-019-50334-6)
Weldatsadik RG, Datta N, Kolmeder C, Vuopio J, Kere J, Wilkman SV, Flatt JW, Vuento R, Haapasalo KJ, Keskitalo S, Varjosalo M, Jokiranta TS. Pool-seq driven proteogenomic database for Group G Streptococcus. J Proteomics 201: 84-92, 2019 (doi: 10.1016/j.jprot.2019.04.015)
Wiesen BM, Hafrén L, Einarsdottir E, Kere J, Mattila PS, Santos-Cortez RLP. ABO genotype and blood type are associated with otitis media. Genet Test Mol Biomarkers 23: 823-827, 2019 (doi: 10.1089/gtmb.2019.0135)

Other publications Juha Kere
Kere J. Hyödyttääkö genomitieto kansanterveyttä? (Does public health benefit from genome medicine?). Editorial. Duodecim 135:2147-2148, 2019
Kere J. Kaupalliset geenitestit lääkärin päänvaivana (Doctors puzzled by commercial gene tests). Lääkärilehti 48: 2792-2793, 2019
Kere J, Sariola H. Ihmisen alku (The beginning of a human). Duodecim 135: 2391-2399, 2019

Original articles Anna-Elina Lehesjoki
Coppola A, Cellini E, Stamberger H, Saarentaus E, Cetica V, Lal D, Djémié T, Bartnik-Glaska M, Ceulemans B, Cross JH, Deconinck T, De Masi S, Dorn T, Guerrini R, Hoffman-Zacharska D, Kooy F, Lagae L, Lench N, Lemke JR, Lucenteforte E, Madia F, Mefford HC, Morrogh D, Nuernberg P, Palotie A, Schoonjans AS, Striano P, Szczepanik E, Tostevin A, Vermeesch JR, Van Esch H, Van Paesschen W, Waters JJ, Weckhuysen S, Zara F, De Jonghe P, Sisodiya SM, Marini C, EuroEPINOMICS-RES Consortium, EpiCNV Consortium. Diagnostic implications of genetic copy number variation in epilepsy plus. Epilepsia 60: 689-706, 2019 (doi:10.1111/epi.14683)
Epi25 Collaborative. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals. Am J Hum Genet 105: 267-282, 2019 (doi: 10.1016/j.ajhg.2019.05.020)
Helbig I, Lopez-Hernandez T, Shor O, Galer P, Ganesan S, Pendziwiat M, Rademacher A, Ellis CA, Hümpfer N, Schwarz N, Seiffert S, Peeden J, Shen J, Sterbova K, Hammer TB, Møller RS, Shinde DN, Tang S, Smith L, Poduri A, Krause R, Benninger F, Helbig KL, Haucke V, Weber YG, EuroEPINOMICS-RES Consortium, GRIN Consortium. A recurrent missense variant in AP2M1 impairs clathrin-mediated endocytosis and causes developmental and epileptic encephalopathy. Am J Hum Genet 104: 1060-1072, 2019 (doi: 10.1016/j.ajhg.2019.04.001)
Johannesen KM, Gardella E, Encinas AC, Lehesjoki AE, Linnankivi T, Petersen MB, Lund ICB, Blichfeldt S, Miranda MJ, Pal DK, Lascelles K, Procopis P, Orsini A, Bonuccelli A, Giacomini T, Helbig I, Fenger CD, Sisodiya SM, Hernandez-Hernandez L, Krithika S, Rumple M, Masnada S, Valente M, Cereda C, Giordano L, Accorsi P, Bürki SE, Mancardi M, Korff C, Guerrini R, von Spiczak S, Hoffman-Zacharska D, Mazurczak T, Coppola A, Buono S, Vecchi M, Hammer MF, Varesio C, Veggiotti P, Lal D, Brünger T, Zara F, Striano P, Rubboli G, Møller RS. The spectrum of intermediate SCN8A-related epilepsy. Epilepsia 60: 830-844, 2019 (doi: 10.1111/epi.14705)
Muir AM, Myers CT, Nguyen NT, Saykally J, Craiu D, De Jonghe P, Helbig I, Hoffman-Zacharska D, Guerrini R, Lehesjoki AE, Marini C, Møller RS, Serratosa J, Štěrbová K, Striano P, von Spiczak S, Weckhuysen S, Mefford HC; EuroEPINOMICS-RES NLES working group, Sarah Weckhuysen. Genetic heterogeneity in infantile spasms. Epilepsy Res 156: 106181, 2019 (doi: 10.1016/j.eplepsyres.2019.106181)
Nevanlinna V, Konovalova S, Ceulemans B, Muona M, Laari A, Hilander T, Gorski K, Valanne L, Anntonen AK, Tyynismaa H, Courage C, Lehesjoki AE. A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome. Eur J Med Genet 103766, 2019 (doi: 10.1016/j.ejmg.2019.103766)

Other publications Anna-Elina Lehesjoki
Lerche H, Berkovic SF, Lowenstein DH; EuroEPINOMICS-CoGIE Consortium; EpiPGX Consortium; Epi4K Consortium/Epilepsy Phenome/Genome Project. Intestinal-cell kinase and juvenile myoclonic epilepsy. (Correspondence) N Engl J Med 380:e24, 2019 (doi: 10.1056/NEJMc1805100)
Tyynelä J, Lehesjoki AE. Kufs or not kufs: challenging diagnostics of a rare adult-onset neurodegenerative disease. Brain 142: 2-5, 2019 (doi: 10.1093/brain/awy312)

Original articles Joni Turunen
Repo P, Järvinen RS, Jäntti JE, Markkinen S, Täll M, Raivio V, Turunen JA, Kivelä TT. Population-based analysis of BAP1 germline variations in patients with uveal melanoma. Hum Mol Genet 215: 2415-2426, 2019

Original articles Hannes Lohi
Anderegg L, Im Hof Gut M, Hetzel U, Howerth EW, Leuthard F, Kyöstilä K, Lohi H, Pettitt L, Mellersh C, Minor KM, Mickelson JR, Batcher K, Bannasch D, Jagannathan V, Leeb T. NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia. PLoS Genet 15: e1008378 2019 (doi: 10.1371/journal.pgen.1008378)
Gershony LC, Belanger JM, Hytönen MK, Lohi H, Oberbauer AM. Novel locus associated with symmetrical lupoid onychodystrophy in the Bearded collie. Genes (Basel) 10. pii: E635, 2019 (doi: 10.3390/genes10090635)
Gershony L, Belanger JM, Short AD, Le M, Hytönen MK, Lohi H, Famula TR, Kennedy LJ, Oberbauer AM. DLA class II risk haplotypes for autoimmune diseases in the Bearded collie offer insight to autoimmunity signatures across dog breeds. Canine Genet Epidemiol 6: 2, 2019 (doi: 10.1186/s40575-019-0070-7)
Hitti RJ, Oliver JAC, Schofield EC, Bauer A, Kaukonen M, Forman OP, Leeb T, Lohi H, Burmeister LM, Sargan D, Mellersh CS. Whole genome sequencing of Giant Schnauzer dogs with progressive retinal atrophy establishes NECAP1 as a novel candidate gene for retinal degeneration. Genes (Basel) 10. pii: E385, 2019 (doi: 10.3390/genes10050385)
Holopainen S, Rautala E, Lilja-Maula L, Lohi H, Rajamäki MM and Lappalainen AK. Thoracic High-Resolution Computed Tomography in Awake West Highland White Terriers with Canine Idiopathic Pulmonary Fibrosis Using VetMousetrap™ Device. Vet Radiol Ultrasound 60: 525-532, 2019 (doi: 10.1111/vru.12779)
Hytönen MK, Arumilli M, Sarkiala E, Nieminen P and Lohi H. Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants. Hum Genet 138: 525-533, 2019 (doi: 10.1007/s00439-019-01997-8)
Hytönen MK and Lohi H. A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds. Hum Genet 138: 535-539, 2019 (doi: 10.1007/s00439-019-02005-9)
Jaffey JA, Reading NS, Giger U, Abdulmalik O, Buckley RM, Johnstone S, Lyons LA and the 99 Lives Cat Genome Consortium. Clinical, metabolic, and genetic characterization of hereditary methemoglobinemia caused by cytochrome b5 reductase deficiency in cats. J Vet Intern Med 33: 2725-2731, 2019 (doi: 10.1111/jvim.15637)
Jagannathan V, Drögemüller C, Leeb T, Dog Biomedical Variant Database Consortium (DBVDC). A comprehensive biomedical variant catalogue based on whole genome sequencing of 6 wolves and 584 dogs. Anim Genet 50: 695-704, 2019 (doi: 10.1111/age.12834)
Laine MK, Wasenius NS, Lohi H, Simonen M, Tiira K, Eriksson JG, Salonen MK. Association between dog ownership and type 2 diabetes in later life: the Helsinki birth cohort study. Int J Circumpolar Health 78:1611328, 2019 (doi: 10.1080/ 22423982.2019.1611328)
Mikkola LI, Holopainen S, Lappalainen AK, Pessa-Morikawa T, Augustine TJP, Arumilli M, Hytönen MK, Hakosalo O, Lohi H, Iivanainen A. Protective regulatory NOG variants against hip dysplasia in German Shepherds. PLoS Genet 15: e1008197, 2019 (doi: 10.1371/journal.pgen.1008197)
Mikkola L, Holopainen S, Pessa-Morikawa T, Lappalainen AK, Hytönen MK, Lohi H, Iivanainen A. Genetic dissection of canine hip dysplasia phenotypes and osteoarthritis reveals three novel loci. BMC Genomics 20: 1027, 2019 (doi: 10.1186/s12864-019-6422-6)
Ostrander EA, Wang GD, Larson G, vonHoldt BM, Davis BW, Jagannathan V, Hitte C, Wayne RK, Zhang YP, Dog10K Consortium. Dog10K: an international sequencing effort to advance studies of canine domestication, phenotypes and health. Natl Sci Rev 6: 810-824, 2019 (doi: 10.1093/nsr/nwz049)
Salonen MK, Vapalahti K, Tiira K, Mäki-Tanila A, Lohi H. Breed differences of heritable behaviour traits in cats. Sci Rep 9: 7949, 2019 (doi: 10.1038/s41598-019-44324-x)
Störk T, Nessler J, Anderegg L, Hünerfauth E, Schmutz I, Jagannathan V, Kyöstilä K, Lohi H, Baumgärtner W, Tipold A, Leeb T. TSEN54 missense variant in Standard Schnauzers with leukodystrophy. PloS Genet 15: e1008411, 2019 (doi: 10.1371/journal.pgen.1008411)
Wiberg M, Niskanen J, Hytönen MK, Dillard K, Hager K, Anttila M, Lohi H. Ventricular arrhythmia and sudden cardiac death in young Leonbergers. J Vet Cardiol 27: 10-22, 2019 (doi: 10.1016/j.jvc.2019.11.006)

Original articles Outi Mäkitie
Ain NU, Iqbal M, Valta H, Emerling CA, Ahmed S, Mäkitie O, Naz S. Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomelic dysplasia type Maroteaux. Eur J Med Genet 62: 103554, 2019 (doi: 10.1016/j.ejmg.2018.10.006)
Costantini A, Valta H, Baratang NV, Yap P, Bertola DR, Yamamoto GL, Kim CA, Chen J, Wierenga KJ, Fanning EA, Escobar L, McWalter K, McLaughlin H, Willaert R, Begtrup A, Alm JJ, Reinhardt DP, Mäkitie O, Campeau PM. Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with ”corner fractures”. Bone 121: 163-171, 2019 (doi: 10.1016/j.bone.2018.12.020)
Einarsdottir E, Pekkinen M, Krjutškov K, Katayama S, Kere J, Mäkitie O, Viljakainen H. A preliminary transcriptome analysis suggests a transitory effect of vitamin D on mitochondrial function in obese young Finnish subjects. Endocr Connect 8 :559-570 (doi: 10.1530/EC-18-0537)
Enlund-Cerullo M, Koljonen L, Holmlund-Suila E, Hauta-Alus H, Rosendahl J, Valkama S, Helve O, Hytinantti T, Viljakainen H, Andersson S, Mäkitie O, Pekkinen M. Genetic variation of the vitamin D binding protein affects vitamin D status and response to supplementation in infants. J Clin Endocrinol Metab 104:5483-5498, 2019 (doi: 10.1210/jc.2019-00630)
Eriksson D, Bacchetta R, Gunnarsson HI, Chan A, Barzaghi F, Ehl S, Hallgren Å, van Gool F, Sardh F, Lundqvist C, Laakso SM, Rönnblom A, Ekwall O, Mäkitie O, Bensing S, Husebye ES, Anderson M, Kämpe O, Landegren. NThe autoimmune targets in IPEX are dominated by gut epithelial proteins. J Allergy Clin Immunol 144: 327-330, 2019 (doi: 10.1016/j.jaci.2019.02.031)
Hauta-Alus HH, Kajantie E, Holmlund-Suila EM, Rosendahl J, Valkama SM, Enlund-Cerullo M, Helve OM, Hytinantti TK, Viljakainen H, Andersson S, Mäkitie O. High pregnancy, cord blood, and infant vitamin D concentrations may predict slower infant growth. J Clin Endocrinol Metab 104: 397-407, 2019 (doi: 10.1210/jc.2018-00602)
Holopainen E, Vakkilainen S, Mäkitie O. Gynecologic health in cartilage-hair hypoplasia: A survey of 26 adult females. Am J Med Genet A 179: 190-195, 2019 (doi: 10.1002/ajmg.a.60684)
Kausar M, Mäkitie RE, Toiviainen-Salo S, Ignatius J, Anees M, Mäkitie O. Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes. Eur J Med Genet 62: 103573, 2019 (doi: 10.1016/j.ejmg.2018.11.007)
Kausar M, Siddiqi S, Yaqoob M, Mansoor S, Mäkitie O, Mir A, Khor CC, Foo JN, Anees M. Correction to: Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta. J Biomed Sci 26: 31, 2019 (doi: 10.1186/s12929-019-0525-x)
Kämpe A, Enlund-Cerullo M, Valkama S, Holmlund-Suila E, Rosendahl J, Hauta-Alus H, Pekkinen M, Andersson S, Mäkitie O. Genetic variation in GC and CYP2R1 affects 25-hydroxyvitamin D concentration and skeletal parameters: A genome-wide association study in 24-month-old Finnish children. PLoS Genet 15: e1008530, 2019 (doi: 10.1371/journal.pgen.1008530)
Lehtovirta S, Mäkitie RE, Casula V, Haapea M, Niinimäki J, Niinimäki T, Peuna A, Lammentausta E, Mäkitie O, Nieminen MT. Defective WNT signaling may protect from articular cartilage deterioration - a quantitative MRI study on subjects with a heterozygous WNT1 mutation. Osteoarthritis Cartilage 27: 1636-1646, 2019 (doi: 10.1016/j.joca.2019.07.001)
Mäkitie RE, Costantini A, Kämpe A, Alm JJ, Mäkitie O. New insights into monogenic causes of osteoporosis. Front Endocrinol (Lausanne) 2019 10: 70, 2019 (doi: 10.3389/fendo.2019.00070)
Pekkinen M, Terhal PA, Botto LD, Henning P, Mäkitie RE, Roschger P, Jain A, Kol M, Kjellberg MA, Paschalis EP, van Gassen K, Murray M, Bayrak-Toydemir P, Magnusson MK, Jans J, Kausar M, Carey JC, Somerharju P, Lerner UH, Olkkonen VM, Klaushofer K, Holthuis JC, Mäkitie O. Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2. JCI Insight 4,2019 (doi: 10.1172/jci.insight.126180)
Rosendahl J, Pelkonen AS, Helve O, Hauta-Alus H, Holmlund-Suila E, Valkama S, Enlund-Cerullo M, Viljakainen H, Hytinantti T, Mäkitie O, Andersson S, Mäkelä MJ. High-dose vitamin D supplementation does not prevent allergic sensitization of infants. J Pediatr 209: 139-145, 2019 (doi: 10.1016/j.jpeds.2019.02.021)
Utriainen P, Suominen A, Mäkitie O, Jahnukainen K. Gonadal failure is common in long-term survivors of childhood high-risk neuroblastoma treated with high-dose chemotherapy and autologous stem cell rescue. Front Endocrinol (Lausanne) 10: 555, 2019 (doi: 10.3389/fendo.2019.00555)
Vakkilainen S, Costantini A, Taskinen M, Wartiovaara-Kautto U, Mäkitie O. Metaphyseal dysplasia without hypotrichosis’ can present with late-onset extraskeletal manifestations. J Med Genet 57: 18-22, 2020. 2019 Aug 14 [Epub ahead of print] (doi: 10.1136/jmedgenet-2019-106131)
Vakkilainen S, Skoog T, Einarsdottir E, Middleton A, Pekkinen M, Öhman T, Katayama S, Krjutškov K, Kovanen PE, Varjosalo M, Lindqvist A, Kere J, Mäkitie O. The human long non-coding RNA gene RMRP has pleiotropic effects and regulates cell-cycle progression at G2. Sci Rep 9: 13758, 2019 (doi: 10.1038/s41598-019-50334-6)
Vakkilainen S, Taskinen M, Klemetti P, Pukkala E, Mäkitie O. A 30-year prospective follow-up study reveals risk factors for early death in cartilage-hair hypoplasia. Front Immunol 10: 1581, 2019 (doi: 10.3389/fimmu.2019.01581)
Wang F, Tarkkonen K, Nieminen-Pihala V, Nagano K, Majidi RA, Puolakkainen T, Rummukainen P, Lehto J, Roivainen A, Zhang FP, Mäkitie O, Baron R, Kiviranta R. Mesenchymal cell-derived juxtacrine wnt1 signaling regulates osteoblast activity and osteoclast differentiation. J Bone Miner Res 34: 1129-1142, 2019 (doi: 10.1002/jbmr.3680)

Original articles Bjarne Udd
Al-Tahan S, Weiss L, Yu H, Tang S, Saporta M, Vihola A, Mozaffar T, Udd B, and Kimonis V. New family with HSPB8 associated autosomal dominant rimmed vacuolar myopathy. Neurol Genet 5: e349, 2019 (doi: 10.1212/NXG.0000000000000349)
Cai S, Gao M, Xi J, Liu Z, Yue D, Wu H, Bi H, Li J, Liang Z, Zhao C, Udd B, Luo S, Lu J. Clinicl spectrum and gene mutations in a Chinese cohort with Anoctaminopathy. Neuromuscul Disord 29: 628-633, 2019 (doi: 10.1016/j.nmd.2019.06.005)
Chertcoff A, Saucedo M, Bandeo L, Pantiu F, León Cejas L, Borsini E, Reisin R, Udd B. Clinical reasoning: A 54-year-old man with dyspnea and muscle weakness. Neurology 92: e1136-e1140, 2019 (doi: 10.1212/WNL.0000000000007040)
Elia N, Palmio J, Castañeda MS, Shieh P, Quinonez M, Suominen T, Männikkö R, Udd B, Cannon S. Myasthenic Congenital Myopathy from Recessive Mutations at a Single Residue in NaV1.4. Neurology 92: e1405-e1415, 2019 (doi: 10.1212/WNL.0000000000007185)
Jokela M, Tasca G, Vihola A, Mercuri E, Jonson PH, Huovinen S, Lehtinen S, Välipakka S, Pane M, Donati M, Johari M, Savarese M, Isohanni P, Hartikainen P, Palmio J, and Udd B. An unusual ryanodine receptor 1 (RYR1) - phenotype: mild, calf-predominant myopathy. Neurology 92: e1600-e1609, 2019 (doi: 10.1212/WNL. 0000000000007246)
Kiiski K, Lehtokari VM, Vihola A, Laitila J, Huovinen S, Sagath L, Evilä A, Paetau A, Sewry C, Hackman P, Pelin K, Wallgren-Pettersson C, Udd B. Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene. Neuromuscul Disord 29: 97-107, 2019 (doi: 10.1016/j.nmd.2018.12.007)
Kuuluvainen L, Kaivola K, Mönkäre S, Laaksovirta H, Jokela M, Udd B, Valori M, Pasanen P, Paetau A, Traynor B, Stone D, Schleutker J, Pöyhönen M, Tienari P, and Myllykangas L. Oligogenic basis of sporadic ALS –the example of SOD1 p.Ala90Val mutation. Neurol Genet 5: e335, 2019 (doi: 10.1212/NXG.0000000000000335)
Lornage X, Johari M, Evangelista T, Cejas C, Barroso F, Dubrovsky A, Bui MT, Brochier G, Saccoliti M, Bohm J, Udd B, Laporte J, Romero N, Taratuto AL Berardo A. HNRNPDL-related muscular dystrophy: Expanding the clinical, morphological and MRI phénotypes. J Neurol 266: 2524-2534, 2019 (doi: 10.1007/s00415-019-09437-3)
Olivé M, Engvall M, Ravenscroft G, Cabrera-Serrano M, Jiao H, Bortolotti C, Pignataro M, Lambrughi M, Jiang H, Forrest A, Benseny-Cases N, Hofbauer S, Obinger C, Battistuzzi G, Bellei M, Borsari M, Di Rocco G, Cladera J, Lagerstedt-Robinson K, Xiang F, Wredenberg A, Miralles F, Baiges J, Malfatti E, Romero N, Streichenberger N, Vial C, Claeys K, Straathof C, Goris A, Freyer C, Lammens M, Bassez G, Kere J, Clemente P, Sejersen T, Udd B, Vidal N, Ferrer I, Edström L, Wedell A, Laing N. MB mutation impairs oxygen binding and causes myoglobinopathy, an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions. Nat Commun 10:1396, 2019 (doi: 10.1016/j.nmd.2018.12.007)
Palmio J, Jonson PH, Inoue M, Sarparanta J, Bengoechea R, Savarese M, Vihola A, Jokela M, Nakagawa M, Noguchi S, Olivé M, Masingue M, Kerty E, Hackman P, Weihl C, Nishino I, Udd B. Mutations in the J domain of DNAJB6 cause dominant distal myopathy. Neuromuscul Disord pii: S0960-8966(19)31201-5, 2019 (doi: 10.1016/j.nmd.2019.11.005)
Palmio J, Leonard-Louis S, Sacconi S, Savarese M, Penttilä S, Semmler AL, Kress W, Mozaffar T, Lai T, Stojkovic T, Berardo A, Reisin R, Attarian S, Urtizberea A, Cobo AM, Maggi L, Kurbatov S, Nikitin S, Milisenda J, Fatehi F, Raimondi M, Silveira F, Hackman P, Claeys K, Udd B. Expanding the importance of HMERF titinopathy: new mutations and clinical aspects. J Neurol 266:680-690, 2019 (doi: 10.1007/s00415-019-09187-2)
Papadopoulos C, Malfatti E, Anagnostou E, Savarese M, Udd B, Papadimas GK. Valosin-containing protein-related myopathy and Meige syndrome: just a coincidence or not? Muscle Nerve 60: E43-E45, 2019 (doi: 10.1002/mus.26704)
Sainio M, Välipakka S, Rinaldi B, Lapatto H, Paetau A, Ojanen S, Brilhante V, Jokela M, Huovinen S, Auranen M, Palmio J, Friant S, Ylikallio E, Udd B, Tyynismaa H. Recessive PYROXD1 mutations cause adult-onset limb-girdle type muscular dystrophy. J Neurol 266: 353-360, 2019 (10.1007/s00415-018-9137-8)
Savarese M, Palmio J, Poza J, Weinberg J, Olive M, Cobo AM, Vihola A, Jonson PH, Sarparanta J, García-Bragado F, Urtizberea A, Hackman P, Udd B. Actininopathy – a new muscular dystrophy caused by ACTN2 dominant mutations. Ann Neurol 85: 899-906, 2019 (doi: 10.1002/ana.25470)
Schoser B, Montagnese F, Bassez G, Fossati B, Gamez J, Heatwole C, Hilbert J, Kornblum C, Kostera-Pruszczyk A, Krahe R, Lusakowska A, Meola G, Moxley R 3rd, Thornton C, Udd B, Formaker P: Myotonic Dystrophy Foundation. Consensus-based Care Recommendations for Adults with Myotonic Dystrophy Type 2. Neurol Clin Pract 9: 343-353, 2019 (doi: 10.1212/CPJ 0000000000000645)
Udd B, Stenzel W, Oldfors A, Olive M, Romero N, Lammens M, Kusters B, Sewry C, Goebel H, Evangelista T. 1st ENMC European meeting: The EURO-NMD Pathology Working Group Recommended Standards for Muscle Pathology 7 December 2018, Amsterdam, the Netherlands. Neuromuscul Disord 29: 483-485, 2019 (doi: 10.1016/j.nmd.2019.03.002)
Vihola A, Palmio J, Danielsson O, Penttila S, Louiselle D, Pittman S, Weihl C, Udd B. A novel mutation in TNPO3 causes congenital limb girdle myopathy with slow progression. Neurol Genet 5: e337, 2019 (doi: 10.1212/NXG.0000000000000337)
Välipakka S, Savarese M, Sagath L, Arumilli M, Giugliano T, Udd B, Hackman P. Improving copy number variant detection from sequencing data with a combination of programs and a predictive model. J Mol Diagn 22: 40-49, 2019 (doi: 10.1016/j.jmoldx.2019.08.009)

Original articles Carina Wallgren-Pettersson
Blondelle J, Tallapaka K, Seto JT, Ghassemian M, Clark M, Laitila JM, Bournazos A, Singer JD, Lange S. Cullin-3 dependent deregulation of ACTN1 represents a new pathogenic mechanism in nemaline myopathy. JCI Insight 4: e125665, 2019 (doi: 10.1172/jci.insight.125665)
Kiiski K, Lehtokari V-L, Vihola A, Laitila J, Huovinen S, Sagath L, Evilä A, Hackman P, Paetau A, Sewry C, Pelin K, Wallgren-Pettersson C, Udd B. Dominantly inherited distal nemaline /cap myopathy caused by a large deletion in the nebulin gene. Neuromuscul Disord 29: 97-107, 2019 (doi: 10.1016/j.nmd.2018.12.007)
Laitila J, Lehtonen J, Lehtokari V-L, Sagath L, Wallgren-Pettersson C, Grönholm M, Pelin K. A nebulin super-repeat panel reveals stronger actin binding towards the ends of the super-repeat region. Muscle Nerve 59: 116-121, 2019 (doi: 10.1002/mus.26350)
Meerschaut I, De Coninck S, Steyaert W, Barnicoat A, Bayat A, Benedicenti F, Berland S, Blair EM, Breckpot J, de Burca A, Destrée A, García-Miñaúr S, Green AJ, Hanna BC, Keymolen K, Koopmans M, Lederer D, Lees M, Longman C, Lynch SA, Male AM, McKenzie F, Migeotte I, Mihci E, Nur B, Petit F, Piard J, Plasschaert FS, Rauch A, Ribaï P, Pacheco IS, Stanzial F, Stolte-Dijkstra I, Valenzuela I, Varghese V, Vasudevan PC, Wakeling E, Wallgren-Pettersson C, Coucke P, De Paepe A, De Wolf D, Symoens S, Callewaert B. A clinical scoring system for congenital contractural arachnodactyly. Genet Med 22: 124-131, 2020 (doi: 10.1038/s41436-019-0609-8)
Pelin K, Wallgren-Pettersson C. Update on the genetics of congenital myopathies. Semin Pediatr Neurol 29: 12-22, 2019 (doi: 10.1016/j.spen.2019.01.005)
Ross JA, Levy Y, Ripolone M, Kolb JS, Turmaine M, Holt M, Lindqvist J, Claeys KG, Weis J, Monforte M, Tasca G, Moggio M, Figeac N, Zammit PS, Jungbluth H, Fiorillo C, Vissing J, Witting N, Granzier H, Zanoteli E, Hardeman EC, Wallgren-Pettersson C, Ochala J. Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy. Acta Neuropathol 138: 477-495, 2019 (doi: 10.1007/s00401-019-02034-8)
Rudnik-Schöneborn, S, Wallgren-Pettersson C. Pregnancy and delivery in women with congenital myopathies. Semin Pediatr Neurol 29: 23-29, 2019 (doi: 10.1016/j.spen.2019.01.006)
Sewry CA, Laitila JM, Wallgren-Pettersson C. Nemaline myopathies: a current view. J Muscle Res Cell Motil 40: 111-126, 2019 (doi: 10.1007/s10974-019-09519-9)

DIABETES GENETICS

Original articles Per-Henrik Groop
Ahluwalia TS, Schulz C-A, Waage J, Skaaby T, Sandholm N, van Zuydam N, Charmet R, Bork-Jensen J, Almgren P, Thuese BH, Brandslund I, Christiansen CK, Linneberg A, Alhqvist E, Groop P-H, Hadjadj S, Tregouet DA, Jörgensaen ME, Grarup N, Simons M, Groop L, Orho-Melander M, McCarthy M, Melander O, Rossing P, Kiulpeläinen TO, Hansen T. A novel rare variant CUBN variant and three additional genes identified in Europeans with and without diabetes: results from an exome-wide association study of albuminuria. Diabetologia 62: 292-305, 2019 (doi: 10.1007/s00125-018-4783-z)
Ahola A, Forsblom C, Harjutsalo V, Groop P-H. Dietary intake in type 1 diabetes at different stages of diabetic kidney disease. Diabets Res Clin Pract 155: 107775, 2019 (doi: 10.1016/j.diabres.2019.06.016)
Ahola A, Forsblom C, Harjutsalo V, Groop P-H, on behalf of the FinnDiane Study Group. Dietary carbohydrate intake and cardiometabolic risk factors in type 1 diabetes. Diabetes Res Clin Pract 155: 107818, 2019 (doi: 10.1016/j.diabres.2019.107818)
Ahola A, Harjutsalo V, Forsblom C, Saraheimo M, Groop P-H, on behalf of the FinnDiane Study. Associations of dietary macronutrient and fibre intake with glycemia in individuals with type 1 diabetes. Diabet Med 36:1391-1398, 2019 (doi: 10.1111/dme.13863)
Ahola AI, Mutter S, Forsblom C, Harjutsalo V, Groop P-H, the Finnish Diabetic Nephropathy Study. Meal timing, meal frequency, and breakfast skipping in adult individuals with type 1 diabetes – associations with glycaemic control. Sci Rep 9: 20063, 2019 (doi 10.1038/s41598-019-56541-5)
Colombo M, Valo E, McGurnaghan SJ, Sandholm N, Blackbourn LAK, Dalton RN, Dunger D, Groop P-H, McKeigue PM, Forsblom C, Colhoun HM, on behalf of the FinnDiane Study Group and the Scottish Diabetes Research Network (SRDN) Type 1 Bioresource Collaboration. Biomarker panels associated with progression of renal disease in type 1 diabetes. Diabetologia 62: 1616-1627, 2019 (doi: 10.1007/s00125-019-4915-0)
Dahlström E, Sandholm N, Forsblom CM, Thorn LM, Jansson FJ, Harjutsalo V, Groop P-H, on behalf of the FinnDiane Study Group. Body mass index and mortality in individuals with type 1 diabetes. J Clin Endocrinol Metab 104: 5195-5204, 2019 (doi: 10.1210/jc.2019-00042)
Finne P, Groop P-H, Arffman M, Kervinen M, Helve J, Grönhagen-Riska C, Sound R. Cumulative incidence of end-stage renal disease among patients with type 2 diabetes - a nationwide inception cohort study. Diabetes Care 42: 539-544, 2019 (doi: 10.2337/dc18-1485)
Gordin D, Saraheimo M, Tuomikangas J, Soro-Paavonen A, Forsblom C, Paavonen K, Steckel-Hamann B, Harjutsalo V, Nicolaou L, Pavo I, Koivisto V, Groop P-H. Insulin exposure mitigates the increase of arterial stiffness in patients with type 2 diabetes and albuminuria. Acta Diabetol 56: 1169-1175, 2019 (doi: 10.1007/s00592-019-01351-4)
Hägg-Holmberg S, Thorn LM, Dahlström E, Forsblom CM, Liebkind R, Putaala J, Tatlisumak T, Groop P-H, on behalf of the FinnDiane Study Group. The role of blood pressure in risk of ischemic and hemorrhagic stroke in type 1 diabetes. Cardiovasc Diabetol 18: 88, 2019 (doi: 10.1186/s12933-019-0891-4)
Ortiz F, Harjutsalo V, Helanterä I, Lempinen M, Forsblom C, Groop P-H. Long-term mortality after kidney transplantation in a nationwide cohort of patients with type 1 diabetes in Finland. Diabets Care 242, 55-61, 2019 (doi: 10.2337/dc18-1029)
Palanca A, Castelblanco E, Betriu A, Soldevila B, Valdivielso JM, Bermúdez M, Perpinan H, Puig C, Puig-Domingo M, Groop P-H, Fernandez E, Alonso N, Mauricio D. Subclinical atheroscleriosis burden predicts cardiovascular events in patients with diabetes and chronic kidney disease. Cardiovasc Diabetol 18: 93, 2019 (doi: 10.1186/s12933-019-0897-y)
Polianskyte-Prause Z, Tolvanen TA, Lindfors S, Latvala M, Wang H, Dash SN, Berg M, Dumont V, Nisen H, Mirtti T, Groop P-H, Wähälä K, Tienari J, Lehtonen S. Metformin increases glucose uptake and acts renoprotectively by reducing SHIP2 acitivity. FASEB J 33:000-000, 2019 (doi: 10.1096/fj.201800529RR)
Pongrac Barlovic D, Harjutsalo V, Groop P-H. Response to comment on Pongrac Barlovic et al. The association of severe diabetic retinopathy with cardiovascular outcomes in long-standing type 1 diabetes: A longitudinal follow-up. Diabetes Care 42: e49-e50, 2019 (doi: 10.2337/dci18-0058)
Roslund K, Lehto M, Pussinen P, Groop P-H, Halonen L, Metsälä M. On-line profiling of volatile compounds produced in vitro by pathogenic oral bacteria. J Breath Res 14: 016010, 2019 (doi: 10.1088/1752-7163/ab5559)
Salem RM, Todd JN, Sandholm N, Cole JB, Chen W.M, Andrews D, Pezzolezi MG, McKeigue PM, Hiraki LT, Qiu C, Nair V, Liao CD, Cao JJ, Valo E, Onengut-Gumuscu S, Smiles AM, McGurnaghan SJ, Haukka JK, Harjutsalo V, Brennan EP, van Zuydam N, Ahlqvist E, Doyle R, Ahluwalia TS, Lajer M, Hughes MF, Park J, Skupien J, Spiliopoulou A, Liu A, Menon R, Boustany-Kari CM, Kang HM, Nelson RG, Klein R, Klein BE, Lee KE, Gao X, Mauer M, Maeastroni S, Caramori ML, de Boer IH, Miller RG, Guo J, Boright AP, Tregouet D, Gyorgy B, Snell-Bergeon JK, Maahs DM, Bull SB, Canty AL, Palmer CNA, Stechemesser L, Paulweber B, Weitgasser R, Sokolovska J, Rovite V, Pirags V, Prakapiene E, Radzeviciene L, Verskauskiene R, Panduru NM, Groop LC, McCarthy MI, Gu HF, Möllsten A, Falhammar H, Brismar K, Martin F, Rossing P, Costacou T, Zerbini G, Marre M, Hadjadj S, McKnight AJ, Forsblom C, McKay G, Godson C, Maxwell AP, Kretzler M, Susztak K, Colhoun HM, Krolewski A, Paterson AD, Groop P-H, Rich SS, Hirschhorn JN, Florez JC, SUMMIT Consortium, DCCT/EDIC Research Group, GENIE Consortium. Genome-wide association study of diabetic kidney disease highlights biology involved in glomerular basement membrane collagen. J Am Soc Nephrol 30: 2000-2016, 2019 (doi: 10.1681/ASN.2019030218)
Skupien J, Smiles AM, Valo E, Ahluwalia TS, Gyorgy B, Sandholm N, Croall S, Lajer M, McDonnell K, Forsblom C, Harjutsalo V, Marre M, Galecki AT, Tregouet D-A, Wu CY, Mychaleckyj JC, Nickerson H, Pragnell M, Rich SS, Pezzolesi MG, Hadjadj S, Rossing P, Groop P-H, Krolewski AS. Variations in risk of end-stage renal disease and risk of mortality in an international study of patients with type 1 diabetes and advanced nephropathy. Diabetes Care 42, 93-101, 2019 (doi: 10.2337/dc18-1369)
Syreeni A, Sandholm NKA, Cao J, Toppila I, Maahs DM, Rewers MJ, Snell-Bergeon JK, Costacou T, Orchard TJ, Caramori ML, Mauer M, Klein BEK, Klein R, Valo E, Parkkonen M, Forsblom C, Harjutsalo V, Paterson AD, Groop P-H, on behalf of the FinnDiane Study Group. Genetic determinants of glycated hemoglobin in type 1 diabetes. Diabetes 68: 858-867, 2019 (doi: 10.2337/db18-0573)
Thorn LM, Shams S, Gordin D, Liebkind R, Forsblom C, Summanen P, Hägg-Holmberg S, Tatlisumak T, Salonen O, Putaala J, Martola J, Groop P-H, on behalf of the FinnDiane Study Group. Clinical and magnetic resonance imaging features of cerebral small vessel disease in type 1 diabetes. Diabetes Care 42: 327-330, 2019 (doi: 10.2337/dc18-1302)
Tikkanen-Dolenc H, Wadén J, Forsblom C, Harjutsalo V, Thorn LM, Saraheimo M, Elonen N, Hietala K, Summanen P, Tikkanen HO, and Groop P-H, on behalf of the FinnDiane Study Group. Frequent physical activity is associated with reduced risk of severe diabetic retinopathy in type 1 diabetes. Acta Diabetol Nov 2019 [Epub ahead of print] (doi: 10.1007/s.00592-019-01454-y)
Vuori N, Hietala K, Sandholm N, Kumar A, Syreeni A, Forsblom C, Juuti-Uusitalo K, Skottman H, Imamura M, Maeda S, Summanen PA, Lehto M, Groop P-H, on behalf of the FinnDiane Study Group. CACNB2 is a novel susceptibility gene for diabetic retinopathy in type 1 diabetes. Diabetes 68: 2165-2174, 2019 (doi: 10.2337/db19-0130)
Wadén JM, Elonen N, Dahlström EH, Thorn L, Wadén J, Sandholm N, Lehto M, Forsblom C, Groop P-H, on behalf of the FinnDiane Study Group. Soluble receptor for AGE in diabetic nephropathy and its progression in Finnish individuals with type 1 diabetes. Diabetologia 62: 1268-1274, 2019 (doi: 10.1007/s00125-019-4883-4)
Wadén JM, Elonen N, Dahlström EH, Thorn L, Wadén J, Sandholm N, Lehto M, Forsblom C, Groop P-H, on behalf of the FinnDiane Study Group. Soluble receptor for AGE in diabetic nephropathy and its progression in Finnish individuals with type 1 diabetes. Diabetologia 62: 1268-1274, 2019 (doi: 10.1007/s00125-019-4883-4)

Other publications Per-Henrik Groop
Fornoni A, Nelson RG, Najafian B, Groop P-H. Textbook Brenner and Rector’s THE KIDNEY (11th Edition) (Edited by Alan SL Yu, Glenn M Chertow, Valerie A Luyckx, Philip A Marsden, Karl Skorecki and Maarten W Taal). Chapter 39: Epidemiology of Diabetic Kidney Disease. ISBN-13: 9780323532655. Volume One, pp. 1327-1379, 2019
Pongrac-Barlovic D, Tikkanen-Dolenc H, Groop P-H. Physical activity in the prevention of development and progression of kidney disease in type 1 diabetes. Curr Diabetes Rep 19:41, 2019 (doi: 10.1007 s11892-019-1157-y)

Original articles Tiinamaija Tuomi
Clark DW, Okada Y, Moore KHS, Mason D, Pirastu N, Gandin I, Mattsson H, Barnes CLK, Lin K, Zhao JH, Deelen P, Rohde R, Schurmann C, Guo X, Giulianini F, Zhang W, Medina-Gomez C, Karlsson R, Bao Y, Bartz TM, Baumbach C, Biino G, Bixley MJ, Brumat M, Chai JF, Corre T, Cousminer DL, Dekker AM, Eccles DA, van Eijk KR, Fuchsberger C, Gao H, Germain M, Gordon SD, de Haan HG, Harris SE, Hofer E, Huerta-Chagoya A, Igartua C, Jansen IE, Jia Y, Kacprowski T, Karlsson T, Kleber ME, Li SA, Li-Gao R, Mahajan A, Matsuda K, Meidtner K, Meng W, Montasser ME, van der Most PJ, Munz M, Nutile T, Palviainen T, Prasad G, Prasad RB, Priyanka TDS, Rizzi F, Salvi E, Sapkota BR, Shriner D, Skotte L, Smart MC, Smith AV, van der Spek A, Spracklen CN, Strawbridge RJ, Tajuddin SM, Trompet S, Turman C, Verweij N, Viberti C, Wang L, Warren HR, Wootton RE, Yanek LR, Yao J, Yousri NA, Zhao W, Adeyemo AA, Afaq S, Aguilar-Salinas CA, Akiyama M, Albert ML, Allison MA, Alver M, Aung T, Azizi F, Bentley AR, Boeing H, Boerwinkle E, Borja JB, de Borst GJ, Bottinger EP, Broer L, Campbell H, Chanock S, Chee ML, Chen G, Chen YI, Chen Z, Chiu YF, Cocca M, Collins FS, Concas MP, Corley J, Cugliari G, van Dam RM, Damulina A, Daneshpour MS, Day FR, Delgado GE, Dhana K, Doney ASF, Dörr M, Doumatey AP, Dzimiri N, Ebenesersdóttir SS, Elliott J, Elliott P, Ewert R, Felix JF, Fischer K, Freedman BI, Girotto G, Goel A, Gögele M, Goodarzi MO, Graff M, Granot-Hershkovitz E, Grodstein F, Guarrera S, Gudbjartsson DF, Guity K, Gunnarsson B, Guo Y, Hagenaars SP, Haiman CA, Halevy A, Harris TB, Hedayati M, van Heel DA, Hirata M, Höfer I, Hsiung CA, Huang J, Hung YJ, Ikram MA, Jagadeesan A, Jousilahti P, Kamatani Y, Kanai M, Kerrison ND, Kessler T, Khaw KT, Khor CC, de Kleijn DPV, Koh WP, Kolcic I, Kraft P, Krämer BK, Kutalik Z, Kuusisto J, Langenberg C, Launer LJ, Lawlor DA, Lee IT, Lee WJ, Lerch MM, Li L, Liu J, Loh M, London SJ, Loomis S, Lu Y, Luan J, Mägi R, Manichaikul AW, Manunta P, Másson G, Matoba N, Mei XW, Meisinger C, Meitinger T, Mezzavilla M, Milani L, Millwood IY, Momozawa Y, Moore A, Morange PE, Moreno-Macías H, Mori TA, Morrison AC, Muka T, Murakami Y, Murray AD, de Mutsert R, Mychaleckyj JC, Nalls MA, Nauck M, Neville MJ, Nolte IM, Ong KK, Orozco L, Padmanabhan S, Pálsson G, Pankow JS, Pattaro C, Pattie A, Polasek O, Poulter N, Pramstaller PP, Quintana-Murci L, Räikkönen K, Ralhan S, Rao DC, van Rheenen W, Rich SS, Ridker PM, Rietveld CA, Robino A, van Rooij FJA, Ruggiero D, Saba Y, Sabanayagam C, Sabater-Lleal M, Sala CF, Salomaa V, Sandow K, Schmidt H, Scott LJ, Scott WR, Sedaghati-Khayat B, Sennblad B, van Setten J, Sever PJ, Sheu WH, Shi Y, Shrestha S, Shukla SR, Sigurdsson JK, Sikka TT, Singh JR, Smith BH, Stančáková A, Stanton A, Starr JM, Stefansdottir L, Straker L, Sulem P, Sveinbjornsson G, Swertz MA, Taylor AM, Taylor KD, Terzikhan N, Tham YC, Thorleifsson G, Thorsteinsdottir U, Tillander A, Tracy RP, Tusié-Luna T, Tzoulaki I, Vaccargiu S, Vangipurapu J, Veldink JH, Vitart V, Völker U, Vuoksimaa E, Wakil SM, Waldenberger M, Wander GS, Wang YX, Wareham NJ, Wild S, Yajnik CS, Yuan JM, Zeng L, Zhang L, Zhou J, Amin N, Asselbergs FW, Bakker SJL, Becker DM, Lehne B, Bennett DA, van den Berg LH, Berndt SI, Bharadwaj D, Bielak LF, Bochud M, Boehnke M, Bouchard C, Bradfield JP, Brody JA, Campbell A, Carmi S, Caulfield MJ, Cesarini D, Chambers JC, Chandak GR, Cheng CY, Ciullo M, Cornelis M, Cusi D, Smith GD, Deary IJ, Dorajoo R, van Duijn CM, Ellinghaus D, Erdmann J, Eriksson JG, Evangelou E, Evans MK, Faul JD, Feenstra B, Feitosa M, Foisy S, Franke A, Friedlander Y, Gasparini P, Gieger C, Gonzalez C, Goyette P, Grant SFA, Griffiths LR, Groop L, Gudnason V, Gyllensten U, Hakonarson H, Hamsten A, van der Harst P, Heng CK, Hicks AA, Hochner H, Huikuri H, Hunt SC, Jaddoe VWV, De Jager PL, Johannesson M, Johansson Å, Jonas JB, Jukema JW, Junttila J, Kaprio J, Kardia SLR, Karpe F, Kumari M, Laakso M, van der Laan SW, Lahti J, Laudes M, Lea RA, Lieb W, Lumley T, Martin NG, März W, Matullo G, McCarthy MI, Medland SE, Merriman TR, Metspalu A, Meyer BF, Mohlke KL, Montgomery GW, Mook-Kanamori D, Munroe PB, North KE, Nyholt DR, O’connell JR, Ober C, Oldehinkel AJ, Palmas W, Palmer C, Pasterkamp GG, Patin E, Pennell CE, Perusse L, Peyser PA, Pirastu M, Polderman TJC, Porteous DJ, Posthuma D, Psaty BM, Rioux JD, Rivadeneira F, Rotimi C, Rotter JI, Rudan I, Den Ruijter HM, Sanghera DK, Sattar N, Schmidt R, Schulze MB, Schunkert H, Scott RA, Shuldiner AR, Sim X, Small N, Smith JA, Sotoodehnia N, Tai ES, Teumer A, Timpson NJ, Toniolo D, Tregouet DA, Tuomi T, Vollenweider P, Wang CA, Weir DR, Whitfield JB, Wijmenga C, Wong TY, Wright J, Yang J, Yu L, Zemel BS, Zonderman AB, Perola M, Magnusson PKE, Uitterlinden AG, Kooner JS, Chasman DI, Loos RJF, Franceschini N, Franke L, Haley CS, Hayward C, Walters RG, Perry JRB, Esko T, Helgason A, Stefansson K, Joshi PK, Kubo M, Wilson JF. Associations of autozygosity with a broad range of human phenotypes. Nat Commun 10: 4957, 2019 (doi: 10.1038/s41467-019-12283-6)
Dwivedi OP, Lehtovirta M, Hastoy B, Chandra V, Kleiner S, Jain D, Richard A-M, Beer N, Krentz NAJ, Prasad RB, Hansson O, Ahlqvist E, Krus U, Artner I, Gomez D, Baras A, Abaitua F, Champon B, Payne AJ, Moralli D, Thomsen SK, Kramer P, Spiliotis I, Ramracheya R, Chabosseau P, Theodoulou A, Cheung R, van de Bunt M, Flannick J, Trombetta M, Bonora E, Wolheim CB, Sarelin L, Bonadonna RC, Rorsman P, Rutter GA, Davies B, Brosnan J, McCarthy MIM, Otonkoski T, Lagerstedt JO, Gromada J, Gloyn AL, Tuomi T, Groop LC. Loss of ZnT8 function protects against diabetes by enhanced insulin secretion. Nat Genet 51: 1596-1606, 2020 (doi: 10.1038/s41588-019-0513-9)
Flannick J, Mercader JM, Fuchsberger C, Udler MS, Mahajan A, Wessel J, Teslovich TM, Caulkins L, Koesterer R, Barajas-Olmos F, Blackwell TW, Boerwinkle E, Brody JA, Centeno-Cruz1 F, Chen L, Chen S, Contreras-Cubas C, Córdova E, Correa A, Cortes M, DeFronzo RA, Dolan L, Drews KL, Elliott A, Floyd JS, Gabriel S, Garay-Sevilla ME, García-Ortiz H, Gross M, Han S, Hanks S, Heard-Costa NL, Jackson AU, Jørgensen ME, Kang HM, Kelsey M, Kim B-J, Koistinen HA, Kuusisto J, Leader JB, Linneberg A, Liu CT, Liu J, Lyssenko V, Manning AK, Marcketta A, Malacara-Hernandez JM, Martínez-Hernández A, Matsuo K, Mayer-Davis E, Mendoza-Caamal E, Mohlke KL, Morrison AC, Ndungu A, Ng MCY, O’Dushlaine C, Payne AJ, Pihoker C, Broad Genomics Platform, Post WS, Preuss M, Psaty BM, Vasan RS, Rayner NW, Reiner AP, Revilla-Monsalve C, Robertson NR, Santoro N, Schurmann C, So Wy, Soberón X, Stringham HM, Strom TM, Tam CHT, Thameem F, Tomlinson B, Torres JM, Tracy RP, van Dam RM, Vujkovic M, Wang S, Welch RP, Witte DR, Wong T-Y, Atzmon G, Barzilai N, Blangero J, Bonnycastle LL, Bowden DW, Chambers JC, Chan E, Cheng C-Y, Cho YS, Collins FS, de Vries PS, Duggirala R, Glaser B, Gonzalez C, Gonzalez ME, Groop L, Kooner JS, Kwak SH, Laakso M, Lehman DM, Nilsson P, Spector TD, Tai ES, Tuomi T, Tuomilehto J, Wilson JG, Aguilar-Salinas CA, Bottinger E, Burke B, Carey DJ, Chan J, Dupuis J, Frossard F, Heckbert SR, Hwang MY, Kim YJ, Kirchner HL, Lee J-Y, Lee J, Loos R, Ma RCW, Morris AD, O’Donnell CJ, Palmer CNA, Pankow J, Park KS, Rasheed A, Saleheen D, Sim X, Small KS, Teo YY, Haiman C, Hanis CL, Henderson BE, Orozco L, Luna TT, Dewey FE, Baras A, Gieger C, Meitinger T, Strauch K, Lange L, Grarup N, Hansen T, Pedersen O, Zeitler P, Dabelea D, Abecasis G, Bell GI, Cox NJ, Seielstad M, Sladek R, Meigs JB, Rich S, RotterJI, DiscovEHR Collaboration, CHARGE, LuCamp, ProDiGY, GoT2D, ESP, SIGMA-T2D, T2D-GENES, AMP-T2D3 GENES, Altshuler D, Bur NP, Scott LJ, Morris AP, Florez JC, McCarthy MI, Boehnke M. Exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls. Nature 570: 71-76, 2020 (doi: 10.1038/s41586-019-1231-2)
Haljas K, Hakaste L, Lahti J, Isomaa B, Groop L, Tuomi T, Räikkönen K. The associations of daylight and melatonin receptor 1B gene rs10830963 variant with glycemic traits: the prospective PPP-Botnia study. Ann Med 51:58-67, 2019 (doi: 10.1080/ 07853890.2018.1564357)
Hjort R, Löfvenborg JE, Ahlqvist E, Alfredsson L, Andersson T, Grill V, Groop L, Sørgjerd EP, Tuomi T, Åsvold BO, Carlsson S. Interaction between overweight and genotypes of HLA, TCF7L2, and FTO in relation to the risk of Latent Autoimmune Diabetes in Adults and type 2 diabetes. J Clin Endocrinol Metab 104: 4815-4826, 2019 (doi: 10.1210/jc.2019-00183)
Löfvenborg JE, Ahlqvist E, Alfredsson L, Andersson T, Dorkhan M, Groop L, Tuomi T, Wolk A, Carlsson S. Genotypes of HLA, TCF7L2, and FTO as potential modifiers of the association between sweetened beverage consumption and risk of LADA and type 2 diabetes. Eur J Nutr, 2019 [Epub ahead of print] (doi: 10.1007/s00394-019-01893-x)
Mishra R, Åkerlund M, Cousminer DL, Ahlqvist E, Bradfield JP, Chesi A, Hodge KM, Guy VC, Brillon DJ, Pratley RE, Rickels MR, Vella A, Ovalle F, Harris RI, Melander O, Varvel S, Hakonarson H, Froguel P, Lonsdale JT, Mauricio D, Schloot NC, Khunti K, Greenbaum CJ, Yderstræde KB, Tuomi T, Voight BF, Schwartz S, Boehm BO, Groop L, Leslie RD, Grant SFA. Genetic Discrimination Between LADA and Childhood-Onset Type 1 Diabetes Within the MHC. Diabetes Care 43: 418-425, 2020. 2019 Dec 16 [Epub ahead of print] (doi: 10.2337/dc19-0986)
Peddinti G, Bergman M, Tuomi T, Groop L. One hour post-OGTT glucose improves the early prediction of type 2 diabetes by clinical and metabolic markers. J Clin Endocrinol Metab 104: 1131–1140, 2019 (doi: 10.1210/jc.2018-01828)

Other publications Tiinamaija Tuomi
Ahlqvist E, Tuomi T, Groop L. Clusters provide a better holistic view of type 2 diabetes than simple clinical features. Lancet Diabetes Endocrinol 7: 668-669, 2019 (doi: 10.1016/S2213-8587(19)30257-8)

Original articles Mikael Knip
Bauer W, Veijola R, Lempainen J, Kiviniemi M, Härkönen T, Toppari J, Knip M, Gyenesei A, Ilonen J. Age at seroconversion, HLA genotype, and specificity of autoantibodies in progression of islet autoimmunity in childhood. J Clin Endocrinol Metab 104: 4521-4530, 2019 (doi: 10.1210/jc.2019-00421)
Ekman I, Ihantola EL, Viisanen T, Rao DA, Näntö-Salonen K, Knip M, Veijola R, Toppari J, Ilonen J, Kinnunen T. Circulating CXCR5PD-1hi peripheral T helper cells are associated with progression to type 1 diabetes. Diabetologia 62:1681-1688, 2019 (doi: 10.1007/s00125-019-4936-8)
Hakola L, Miettinen ME, Syrjälä E, Åkerlund M, Takkinen HM, Korhonen TE, Ahonen S, Ilonen J, Toppari J, Veijola R Nevalainen J, Knip M, Virtanen SM. Association of cereal, gluten, and dietary fiber intake with islet autoimmunity and type 1 diabetes. JAMA Pediatr Aug 12 2019 [Epub ahead of print] (doi: 10.1001/jamapediatrics.2019.2564)
Jääskeläinen AJ, Nurminen N, Kolehmainen P, Smura T, Tauriainen S, Toppari J, Ilonen J, Veijola R, Knip M, Hyöty H, Vapalahti O. No association between ljungan virus seropositivity and the beta-cell damaging process in the Finnish type 1 diabetes prediction and prevention study cohort. Pediatr Infect Dis J 38: 314-316, 2019 (doi: 10.1097/INF.0000000000002201)
Kallionpää H, Somani J, Tuomela S, Ullah U, de Albuquerque R, Lönnberg T, Komsi E, Siljander H, Honkanen J, Härkönen T, Peet A, Tillmann V, Chandra V, Anagandula MK, Frisk G, Otonkoski T, Rasool O, Lund R, Lähdesmäki H, Knip M, Lahesmaa R. Early detection of peripheral blood cell signature in children developing β-cell autoimmunity at a young age. Diabetes 68: 2024-2034, 2019 (doi: 10.2337/db19-0287
Korhonen L, Oikarinen S, Lehtonen J, Mustonen N, Tyni I, Niemelä O, Honkanen H, Huhtala H, Ilonen J, Hämäläinen AM, Peet A, Tillmann V, Siljander H, Knip M, Lönnrot M, Hyöty; DIABIMMUNE Study Group. Rhinoviruses in infancy and risk of immunoglobulin E sensitization. J Med Virol 91: 1470-1478, 2019 (doi: 10.1002/jmv.25455)
Lamichhane S, Ahonen L, Dyrlund TS, Dickens AM, Siljander H, Hyöty H, Ilonen J, Toppari J, Veijola R, Hyötyläinen T, Knip M, Oresic M. Cord-blood lipidome in progression to islet autoimmunity and type 1 diabetes. Biomolecules 9, 2019. pii: E33. (doi: 10.3390/biom9010033)
Lamichhane S, Ahonen L, Dyrlund TS, Siljander H, Hyöty H, Ilonen J, Toppari J, Veijola R, Hyötyläinen T, Knip M, Orešič M. A longitudinal plasma lipidomics dataset from children who developed islet autoimmunity and type 1 diabetes. Sci Data 5: 180250, 2019 (doi: 10.1038/sdata.2018.250)
Lamichhane S, Kemppainen E, Trošt K, Siljander H, Hyöty H, Ilonen J, Toppari J, Veijola R, Hyötyläinen T, Knip M, Orešič M. Circulating metabolites in progression to islet autoimmunity and type 1 diabetes. Diabetologia 62: 2287-2297, 2019 (doi: 10.1007/s00125-019-04980-0)
Malm M, Hyöty H, Knip M, Vesikari T, Blazevic V. Development of T cell immunity to norovirus and rotavirus in children under five years of age. Sci Rep 9: 3199, 2019 (doi: 10.1038/s41598-019-39840-9)
Mustonen N, Siljander H, Peet A, Tillmann V, Härkönen T, Ilonen J, Hyöty H, Knip M; DIABIMMUNE Study Group. Early childhood infections and the use of antibiotics and antipyretic-analgesics in Finland, Estonia and Russian Karelia. Acta Paediatr 108: 2075-2082, 2019 (doi: 10.1111/apa.14874)
Mustonen N, Siljander H, Peet A, Tillmann V, Härkönen T, Niemelä O, Uibo R, Ilonen J, Knip M; DIABIMMUNE Study Group. Coeliac disease and HLA-conferred susceptibility to autoimmunity are associated with IgE sensitization in young children. Allergy Sep 17. 2019 [Epub ahead of print] (doi: 10.1111/all.14055)
Mäkinen M, Löyttyniemi E, Koskinen M, Vähä-Mäkilä M, Siljander H, Nurmio M, Mykkänen J, Virtanen SM, Simell O, Hyöty H, Ilonen J, Knip M, Veijola R, Toppari J. Serum 25-Hydroxyvitamin D concentrations at birth in children screened for HLA-DQB1 conferred eisk for type 1 diabetes. J Clin Endocrinol Metab 104: 2277-2285, 2019 (doi: 10.1210/jc.2018-02094)
Ojwang V, Nwaru BI, Takkinen HM, Kaila M, Niemelä O, Haapala AM, Ilonen J, Toppari J, Hyöty H, Veijola R, Knip M, Virtanen SM. Early exposure to cats, dogs and farm animals and the risk of childhood asthma and allergy. Pediatr Allergy Immunol 2019 Dec 12. [Epub ahead of print] (doi: 10.1111/pai.13186)
Pöllänen PM, Lempainen J, Laine AP, Toppari J, Veijola R, Ilonen J, Siljander H, Knip M. Characteristics of slow progression to type 1 Diabetes in children with increased HLA-conferred disease risk. J Clin Endocrinol Metab 104:5585-5594, 2019 (doi: 10.1210/jc.2019-010699)
Ruohtula T, de Goffau MC, Nieminen JK, Honkanen J, Siljander H, Hämäläinen AM, Peet A, Tillmann V, Ilonen J, Niemelä O, Welling GW, Knip M, Harmsen HJ, Vaarala O. Maturation of gut microbiota and circulating regulatory T cells and development of IgE sensitization in early life. Front Immunol 10: 2494, 2019 (doi: 10.3389/fimmu.2019.02494)
Salo HM, Koponen J, Kiviranta H, Rantakokko P, Honkanen J, Härkönen T, Ilonen J, Virtanen SM, Tillmann V, Knip M, Vaarala O; DIABIMMUNE Study Group. No evidence of the role of early chemical exposure in the development of β-cell autoimmunity. Environ Sci Pollut Res Int 26: 1370-1378, 2019 (doi: 10.1007/s11356-018-3659-6)
Siljander H, Honkanen J, Knip M. Microbiome and type 1 diabetes. EBioMedicine 46: 512-521, 2019 (doi: 10.1016/j.ebiom.2019.06.031)
Simre K, Uibo O, Peet A, Puustinen L, Oikarainen S, Tamminen K, Blazevic V, Tillmann V, Hämäläinen, Härkönen T, Siljander H, Virtanen SM, Ilonen J, Hyöty H, Knip M, Uibo R; DIABIMMUNE Study Group. Early-life exposure to common virus infections did not differ between coeliac disease patients and controls. Acta Paediatr 108: 1709-1716, 2019 (doi: 10.1111/apa.14791)
Syrjälä E, Nevalainen J, Peltonen J, Takkinen HM, Hakola L, Åkerlund M, Veijola R, Ilonen J, Toppari J, Knip M, Virtanen SM. A joint modeling approach for childhood meat, fish and egg consumption and the risk of advanced islet autoimmunity. Sci Rep 9: 7760, 2019 (doi: 10.1038/s41598-019-44196-1)
Turtinen M, Härkönen T, Parkkola A, Ilonen J, Knip M; Finnish Pediatric Diabetes Register. Characteristics of familial type 1 diabetes: effects of the relationship to the affected family member on phenotype and genotype at diagnosis. Diabetologia 62: 2025-2039, 2019 (doi: 10.1007/s00125-019-4952-8)
Valta M, Gazali AM, Viisanen T, Ihantola EL, Ekman I, Toppari J, Knip M, Veijola R, Ilonen J, Lempainen J, Kinnunen T. Type 1 diabetes linked PTPN22 gene polymorphism is associated with the frequency of circulating regulatory T cells. Eur J Immunol 2019 Dec 6 [Epub ahead of print] (doi: 10.1002/eji.201948378)
Vatanen T, Plichta DR, Somani J, Münch PC, Arthur TD, Hall AB, Rudolf S, Oakeley EJ, Ke X, Young RA, Haiser HJ, Kolde R, Yassour M, Luopajärvi K, Siljander H, Virtanen SM, Ilonen J, Uibo R, Tillmann V, Mokurov S, Dorshakova N, Porter JA, McHardy AC, Lähdesmäki H, Vlamakis H, Huttenhower C, Knip M, Xavier RJ. Genomic variation and strain-specific functional adaptation in the human gut microbiome during early life. Nat Microbiol 4: 470-479, 2019 (doi: 10.1038/s41564-018-0321-5)
Vatanen T, Plichta DR, Somani J, Münch PC, Arthur TD, Hall AB, Rudolf S, Oakeley EJ, Ke X1, Young RA, Haiser HJ, Kolde R, Yassour M, Luopajärvi K, Siljander H, Virtanen SM, Ilonen J, Uibo R, Tillmann V, Mokurov S, Dorshakova N, Porter JA, McHardy AC, Lähdesmäki H, Vlamakis H, Huttenhower C, Knip M, Xavier R. Publisher Correction: Genomic variation and strain-specific functional adaptation in the human gut microbiome during early life. Nat Microbiol 4: 545, 2019 (doi: 10.1038/s41564-019-0393-x)
Viisanen T, Gazali AM, Ihantola EL, Ekman I, Näntö-Salonen K, Veijola R, Toppari J, Knip M, Ilonen J, Kinnunen T. FOXP3+ regulatory T cell compartment is altered in children with newly diagnosed type 1 diabetes but not in autoantibody-positive at-risk children. Front Immunol 10: 19, 2019 (doi: 10.3389/fimmu.2019.00019)
Yeo L, Pujol-Autonell I, Baptista R, Eichmann M, Kronenberg-Versteeg D, Heck S, Dolton G, Sewell AK, Härkönen T, Mikk ML, Toppari J, Veijola R, Knip M, Ilonen J, Peakman M. Circulating β cell-specific CD8+ T cells restricted by high-risk HLA class I molecules show antigen experience in children with and at risk of type 1 diabetes. Clin Exp Immunol Oct 29 2019 [Epub ahead of print] (doi: 10.1111/cei.13391)

GENETIC EPIDEMIOLOGY

Original articles Heli Viljakainen
Engberg E, Figueiredo RAO, Rounge TB, Weiderpass E, Viljakainen H. Heavy screen use on weekends in childhood predicts increased body mass index in adolescence: A three- year follow-up study. J Adolesc Health Nov 5, 2019 pii: S1054-139X(19)30445-8. [Epub ahead of print] (doi: 10.1016/j.jadohealth.2019.09.002)
Engberg E, Figueiredo RAO, Rounge TB, Weiderpass E, Viljakainen H. Heavy screen users are the heaviest among 10,000 children. Sci Rep 9: 11158, 2019 (doi: 10.1038/s41598-019-46971-6)
Engberg E, Koivusalo SB, Huvinen E, Viljakainen H. Bone health in women with a history of gestational diabetes or obesity. Acta Obstet Gynecol Scand Nov 29, 2019 [Epub ahead of print] (doi: 10.1111/aogs.13778)
Einarsdottir E, Pekkinen M, Krjutškov K, Katayama S, Kere J, Mäkitie O, Viljakainen H. A preliminary transcriptome analysis suggests a transitory effect of vitamin D on mitochondrial function in obese young Finnish subjects. Endocr Connect 8: 559-570, 2019 (doi: 10.1530/EC-18-0537)
Enlund-Cerullo M, Koljonen L, Holmlund-Suila E, Hauta-Alus H, Rosendahl J, Valkama S, Helve O, Hytinantti T, Viljakainen H, Andersson S, Mäkitie O, Pekkinen M. Genetic variation of the vitamin D binding protein affects vitamin D status and response to supplementation in infants. J Clin Endocrinol Metab 104: 5483-5498, 2019 (doi: 10.1210/jc.2019-00630)
Figueiredo RAO, Viljakainen J, Viljakainen H, Roos E, Rounge TB, Weiderpass E. Identifying eating habits in Finnish children: a cross-sectional study. BMC Public Health 19: 312, 2019 (doi: 10.1186/s12889-019-6603-x)
Haapanen MJ, Perälä MM, Osmond C, Salonen MK, Kajantie E, Rantanen T, Simonen M, Pohjolainen P, Eriksson JG, von Bonsdorff MB. Infant and childhood growth and frailty in old age: the Helsinki Birth Cohort Study. Aging Clin Exp Res 31: 717-721, 2019 (doi: 10.1007/s40520-018-1011-0)
Hauta-Alus HH, Kajantie E, Holmlund-Suila EM, Rosendahl J, Valkama SM, Enlund-Cerullo M, Helve OM, Hytinantti TK, Viljakainen H, Andersson S, Mäkitie O. High pregnancy, cord blood, and infant vitamin D concentrations may predict slower infant growth. J Clin Endocrinol Metab 104: 397-407, 2019 (doi: 10.1210/jc.2018-00602)
Lommi S, Viljakainen H, Weiderpass E, Figueiredo RAO. Children’s eating attitudes test (ChEAT): a validation study in Finnish children. Eat Weight Disord May 22, 2019 [Epub ahead of print] (doi: 10.1007/s40519-019-00712-w)
Rosendahl J, Pelkonen AS, Helve O, Hauta-Alus H, Holmlund-Suila E, Valkama S, Enlund-Cerullo M, Viljakainen H, Hytinantti T, Mäkitie O, Andersson S, Mäkelä MJ. High-dose vitamin D supplementation does not prevent allergic sensitization of infants. J Pediatr 209: 139-145, 2019 (doi: 10.1016/j.jpeds.2019.02.021)
Viljakainen H, Dahlström E, Figueiredo R, Sandholm N, Rounge TB, Weiderpass E. Genetic risk score predicts risk for overweight and obesity in Finnish preadolescents. Clin Obes 9: e12342, 2019 (doi: 10.1111/cob.12342)
Viljakainen J, Figueiredo RAO, Viljakainen H, Roos E, Weiderpass E, Rounge TB. Eating habits and weight status in Finnish adolescents. Public Health Nutr 22: 2617-2624, 2019 (doi: 10.1017/S1368980019001447)