Original articles Vineta Fellman
Purhonen J, Rajendran J, Mörgelin M, Uusi-Rauva K, Katayama S, Krjutskov K, Einarsdottir E, Velagapudi V, Kere J, Jauhiainen M, Fellman V, Kallijärvi J. Ketogenic diet attenuates hepatopathy in mouse model of respiratory chain complex III deficiency caused by a Bcs1l mutation. Sci Rep 7(1): 957, 2017 doi: 10.1038/s41598-017-01109-4)
Tegelberg S, Tomašić N, Kallijärvi J, Purhonen J, Elmér E, Lindberg E, Nord DG, Soller M, Lesko N, Wedell A, Bruhn H, Freyer C, Stranneheim H, Wibom R, Nennesmo I, Wredenberg A, Eklund EA, Fellman V. Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model. Orphanet J Rare Dis 12(1): 73, 2017 (doi: 10.1186/s13023-017-0624-2)
Original articles Juha Kere
Acevedo N, Ezer S, Kebede Merid S, Gaertner VD, Söderhäll C, D’Amato M, Kabesch M, Melén E, Kere J, Pulkkinen V. NPS variants modify the signaling and risk effects of NPSR1 variants in asthma. PLoS One 12: e0176568, 2017
Darki F, Massinen S, Salmela S, Matsson H, Peyrard-Janvid M, Klingberg T, Kere J. Human ROBO1 regulates white matter structure in corpus callosum. Brain Struct Funct 222: 707-716, 2017
Einarsdottir E, Grauers A, Wang J, Jiao H, Escher SA, Danielsson A, Simony A, Andersen M, Bach Christensen S, Åkesson K, Kou I, Khanshour AM, Ohlin A, Wise C, Ikegawa S, Kere J, Gerdhem P. CELSR2 is a candidate susceptibility gene in idiopathic scoliosis. PLoS One 12: e0189591, 2017
Einarsdottir E, Peyrard-Janvid M, Darki F, Tuulari JJ, Merisaari H, Karlsson L, Scheinin NM, Saunavaara J, Parkkola R, Kantojärvi K, Ämmälä A-J, Yu N, Matsson H, Nopola-Hemmi J, Karlsson H, Paunio T, Klingberg T, Leinonen E, Kere J. Identification of NCAN as a candidate gene for developmental dyslexia. Sci Rep 7: 9294, 2017
Gref A, Kebede Merid S, Gruzieva O, Ballereau S, Becker A, Bellander T, Bergström A, Bossé Y, Bottai M, Chan-Yeung M, Fuertes E, Ierodiakonou D, Jiang R, Joly S, Jones M, Kobor MS, Korek M, Kozyrskyj AL, Kumar A, Lemonnier N, MacIntyre E, Ménard C, Nickle D, Obeidat M, Pellet J, Standl M, Sääf A, Söderhäll C, Tiesler CM, van den Berge M, Vonk JM, Vora H, Xu CJ, Antó JM, Auffray C, Brauer M, Bousquet J, Brunekreef B, Gauderman WJ, Heinrich J, Kere J, Koppelman GH, Postma D, Carlsten C, Pershagen G, Melén E. Genome-wide interaction analysis of air pollution exposure and childhood asthma with functional follow-up. Am J Respir Crit Care Med 195: 1373-1383, 2017
Gruzieva O, Merid SK, Gref A, Gajulapuri A, Lemonnier N, Ballereau S, Gigante B, Kere J, Auffray C, Melén E, Pershagen G. Exposure to traffic-related air pollution and serum inflammatory cytokines in children. Environ Health Perspect 125: 067007, 2017
Gruzieva O, Xu C-J, Breton CV, Annesi-Maesano I, Antó JM, Auffray C, Ballereau S, Bellander T, Bousquet J, Bustamante M, Charles M-A, de Kluizenaar Y, den Dekker HT, Duijts L, Felix JF, Gehring U, Guxens M, Jaddoe VVW, Jankipersadsing SA, Kebede Merid S, Kere J, Kumar A, Lemonnier N, Lepeule J, Nystad W, Page CM, Panasevich S, Postma D, Slama R, Sunyer J, Söderhäll C, Yao J, London SJ, Pershagen G, Koppelman GH, Melén E. Epigenome-wide meta-analysis of methylation in children related to prenatal NO2 air pollution exposure. Env Health Persp 125: 104-110, 2017
Haapaniemi EM, Fogarty CL, Keskitalo S, Katayama S, Vihinen H, Ilander M, Mustjoki S, Krjutškov K, Lehto M, Hautala T, Eriksson O, Jokitalo E, Velagapudi V, Varjosalo M, Seppänen M, Kere J. Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1. J All Clin Immunol 139: 1391-1393, 2017
Kaustio M, Haapaniemi E, Göös H, Hautala T, Park G, Syrjänen J, Einarsdottir E, Sahu B, Kilpinen S, Rounioja S, Fogarty CL, Glumoff V, Kulmala P, Katayama S, Tamene F, Trotta L, Morgunova E, Krjutškov K, Nurmi K, Eklund K, Lagerstedt A, Helminen M, Martelius T, Mustjoki S, Taipale J, Saarela J, Kere J, Varjosalo M, Seppänen M. Damaging heterozygous mutations in NFKB1 lead to diverse immunological phenotypes. J All Clin Immunol 140: 782-796, 2017
Koel M, Võsa U, Krjutškov K, Einarsdottir E, Kere J, Tapanainen J, Katayama S, Ingerpuu S, Jaks V, Stenman U-H, Lundin K, Tuuri T, Salumets A. Optimizing bone morphogenic protein 4-mediated human embryonic stem cell differentiation into trophoblast-like cells using fibroblast growth factor 2 and transforming growth factor-β/activin/nodal signalling inhibition. Reprod BioMed Online 35: 253-263, 2017
Lokki AI, DalyE, TriebwasserM, KurkiMI, RobersonEDO, HäppöläP, AuroK, PerolaM, HeinonenS, KajantieE, KereJ, KivinenK, PoutaA, SalmonJE, MeriS, DalyM, AtkinsonJP, Laivuori H. Protective low frequency variants for preeclampsia in the Fms Related Tyrosine Kinase 1 gene in the Finnish population. Hypertension 70: 365-371, 2017
Lokki AI, Kaartokallio T, Holmberg V, Onkamo P, Koskinen LLE, Saavalainen P, Heinonen S, Kajantie E, Kere J, Kivinen K, Pouta A, Villa PM, Hiltunen L, Laivuori H, Meri S. Analysis of complement C3 gene reveals susceptibility to severe pre-eclampsia. Front Immunol 8: 589, 2017
McGinnis R, Steinthorsdottir V, Williams NO, Thorleifsson G, Shooter S, Hjartardottir S, Bumpstead S, Stefansdottir L, Hildyard L, Sigurdsson JK, Kemp JP, Silva GB, Thomsen LCV, Jääskeläinen T, Kajantie E, Chappell S, Kalsheker N, Moffett A, Hiby S, Lee WK, Padmanabhan S, Simpson NAB, Dolby VA, Staines-Urias E, Engel SM, Haugan A, Trogstad L, Svyatova G, Zakhidova N, Najmutdinova D; FINNPEC Consortium (incl. Kere J); GOPEC Consortium, Dominiczak AF,
Gjessing HK, Casas JP, Dudbridge F, Walker JJ, Pipkin FB, Thorsteinsdottir U, Geirsson RT, Lawlor DA, Iversen AC, Magnus P, Laivuori H, Stefansson K, Morgan L. Variants in the fetal genome near FLT1 are associated with risk of preeclampsia. Nat Genet 49: 1255-1260, 2017
Muurinen M, Hannula-Jouppi K, Reinius LE, Söderhäll C, Kebede Merid S, Bergström A, Melén E, Pershagen G, Lipsanen-Nyman M, Greco D, Kere J. Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children. Sci Rep 7: 15693, 2017
Noguchi S, Arakawa T, Fukuda S, Furuno M, Hasegawa A, Hori F, Ishikawa-Kato S, Kaida K, Kaiho A, Kanamori-Katayama M, Kawashima T, Kojima M, Kubosaki A, Manabe RI, Murata M, Nagao-Sato S, Nakazato K, Ninomiya N, Nishiyori-Sueki H, Noma S, Saijyo E, Saka A, Sakai M, Simon C, Suzuki N, Tagami M, Watanabe S, Yoshida S, Arner P, Axton RA, Babina M, Baillie JK, Barnett TC, Beckhouse AG, Blumenthal A, Bodega B, Bonetti A, Briggs J, Brombacher F, Carlisle AJ, Clevers HC, Davis CA, Detmar M, Dohi T, Edge ASB, Edinger M, Ehrlund A, Ekwall K, Endoh M, Enomoto H, Eslami A, Fagiolini M, Fairbairn L, Farach-Carson MC, Faulkner GJ, Ferrai C, Fisher ME, Forrester LM, Fujita R, Furusawa JI, Geijtenbeek TB, Gingeras T, Goldowitz D, Guhl S, Guler R, Gustincich S, Ha TJ, Hamaguchi M, Hara M, Hasegawa Y, Herlyn M, Heutink P, Hitchens KJ, Hume DA, Ikawa T, Ishizu Y, Kai C, Kawamoto H, Kawamura YI, Kempfle JS, Kenna TJ,Kere J, et al. FANTOM5 CAGE profiles of human and mouse samples. Sci Data 29: 170112, 2017
Purhonen J, Rajendran J, Mörgelin M, Uusi-Rauva K, Katayama S, Krjutskov K, Einarsdottir E, Velagapudi V, Kere J, Jauhiainen M, Fellman V, Kallijärvi J. Ketogenic diet attenuates hepatopathy in mouse model of respiratory chain complex III deficiency caused by a Bcs1l mutation. Sci Rep 7: 957, 2017
Selenius J, Martelius T, Pikkarainen S, Siitonen S, Mattila E, Pietikäinen R, Suomalainen P, Aalto A, Janna Saarela J, Einarsdottir E, Järvinen A, Färkkilä M, Kere J, Seppänen M. Common Variable Immunodeficiency in Finnish adults – a high prevalence country. Front Immunol 8: 1190, 2017
Tobiasson M, Abdulkadir H, Lennartsson A, Katayama S, Marabita F, De Paepe A, Karimi M, Krjutskov K, Einarsdottir E, Grövdal M, Jansson M, Ben Azenkoud A, Ekwall K, Kere J, Hellström-Lindberg E, Ungerstedt J. DNA demethylation by Azacitidine correlates to changes in H3K9me3-associated heterochromatin in primary MDS cells. Oncotarget 8: 28812-28825, 2017
Wedenoja S, Anbtawe-Jomaa S, Elomaa O, Toppari J, Höglund P, Aittomäki K, Holmberg C, Hovatta O, Tapanainen JS, Ohana E, Kere J. A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR. Sci Rep 7: 14208, 2017
Weldatsadik RG, Wang J, Puhakainen K, Jiao H, Jalava J, Räisänen K, Datta N, Skoog T, Vuopio J, Jokiranta TS, Kere J. Sequence analysis of pooled bacterial samples enables identification of strain variation in group A streptococcus. Sci Rep 7: 45771, 2017
Wu W, Maneix L, Inzunza J, Nalvarte I, Antonson P, Kere J, Yu N, Tohonen V, Katayama S, Einarsdottir E, Krjutskov K, Dai Y, Huang B, Gustafsson J-Å. Estrogen receptor β, a regulator of androgen receptor signaling in the mouse ventral prostate. Proc Natl Acad Sci USA 114: E3816-E3822, 2017
Xu CJ, Bonder MJ, Söderhäll C, Bustamante M, Baïz N, Gehring U, Jankipersadsing SA, van der Vlies P, van Diemen CC, van Rijkom B, Just J, Kull I, Kere J, Antó JM, Bousquet J, Zhernakova A, Wijmenga C, Annesi-Maesano I, Sunyer J, Melén E, Li Y, Postma DS, Koppelman GH. The emerging landscape of dynamic DNA methylation in early childhood. BMC Genomics 18: 25, 2017
Kere J. Acute doses of caffeine shift nervous system cell expression profiles toward promotion of neuronal projection growth. Sci Rep 7: 11458, 2017
Other publications Juha Kere
Kere J. Kansallinen genomistrategia teoriasta käytäntöön — kaikki mukaan! (National genome strategy from theory to practice – get involved!) Duodecim 133: 1621-1622, 2017
Kere J. Saalistajat jatkavat voittokulkuaan (Predator triumph continues). Duodecim 133: 627-628, 2017
Kere J. Galenoksen temperamenttityypeistä sydäninfarktin molekyyligeneettisiin riskiennustuksiin (From Galenos' temperament types to the molecular genetic risk prediction of myocardial infarction) Duodecim 133: 2279-2285, 2017
Original articles Anna-Elina Lehesjoki
Anttonen AK, Lehesjoki AE. Reply: The phenotypic and molecular spectrum of PEHO and PEHO-like disorders. Brain 140: e50, 2017 (doi: 10.1093/brain/awx157)
Anttonen A-K, Laari A, Kousi M, Yang YJ, Jääskeläinen T, Somer M, Siintola E, Jakkula E, Muona M, Tegelberg S, Lönnqvist T, Pihko H, Valanne L, Paetau A, Lun MP, Hästbacka J, Kopra O, Joensuu T, Katsanis N, Lehtinen MK, Palvimo JJ, Lehesjoki A-E. ZNHIT3 is defective in PEHO syndrome, a severe encephalopathywith cerebellar granule neuron loss. Brain 140: 1267-1279, 2017 (doi: 10.1093/brain/awx040)
Epi4K Consortium, EuroEPINOMICS-RES Consortium, Epilepsy Phenome Genome Project. Application of Rare Variant Transmission Disequilibrium Tests to Epileptic Encephalopathy Trio Sequence Data. Eur J Hum Genet 25: 894-899, 2017 (doi: 10.1038/ejhg.2017.61)
EuroEPINOMICS-RES Consortium. Electronic address: euroepinomics-RES@ua.ac.be; Epilepsy Phenome/Genome Project; Epi4K Consortium; EuroEPINOMICS-RES Consortium. De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies. Am J Hum Genet 100: 179, 2017 (doi: 10.1016/j.ajhg.2016.12.012)
Oliver KL, Franceschetti S, Milligan C,Muona M, Mandelstam SA, Canafoglia L, Boguszewska-Chachulska A, Korczyn A, Bisulli F, Di Bonaventura C, Ragona F, Michelucci R, Ben-Zeev B, Straussberg R, Panzica F, Massano J, Friedman D, Crespel A, Engelsen BA, Andermann F, Andermann E, Spodar K, Lasek-Bal A, Riguzzi P, Pasini E, Tinuper P, Licchetta L, Gardella E, Lindenau M, Wulf A, Møller RS, Benninger F, Afawi Z, Rubboli G, Reid CA, Maljevic S, LercheH, LehesjokiA-E, Petrou S, BerkovicSF. Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties. Ann Neurol 81: 677-689, 2017 (doi: 10.1002/ana.24929)
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. J Med Genet 54: 460-470, 2017 (doi: 10.1136/jmedgenet-2016-104509)
Özkara Ç, Gündüz A, Coşkun T, Alpaslan BG, Zeydan B, Delil Ş, Muona M, Lehesjoki AE, Kızıltan ME. Long-term follow-up of two siblings with adult-onset neuronal ceroid lipofuscinosis, Kufs type A. Epileptic Disord 19: 147-151, 2017 (doi: 10.1684/epd.2017.0911)
Other publications Anna-Elina Lehesjoki
Anttonen AK, Lehesjoki A-E. Epilepsian geenitutkimuksen nykytila. Epilepsialehti 5: 8-11, 2017
Original articles Hannes Lohi
Ahola MK, Vapalahti K, Lohi H. Early weaning increases aggression and stereotypic behavior in cats. Sci Rep 7(1): 10412, 2017
Chew T, Haase B, Bathgate R, Willet CE, Kaukonen MK, Mascord LJ, Lohi H, Wade CM. A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) is Associated with a Novel Form of Canine Progressive Retinal Atrophy. G3 (Bethesda) 7: 2327-2335, 2017 (doi: 10.1534/g3.117.043109)
Cox ML, Evans JM, Davis AG, Guo LT, Levy JR, Campbell KP, Starr-Moss AN, Salmela E, Hytönen MK, Lohi H, Clark LA, Shelton GD. Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers. Skelet Muscle 7:15, 2017
Everson R, Pettitt L, Forman OP, Dower-Tylee O, McLaughlin B, Ahonen S, Kaukonen M, Komáromy AM, Lohi H, Mellersh CM, Sansom J, Ricketts SL. An Comment [VAMT9]: https://www.folkhals.fi/en/research/genetics/group-lohi/
intronic LINE-1 insertion in MERTK is strongly associated with retinopathy in Swedish Vallhund dogs. PLoS One 12(8): e0183021, 2017
Holopainen S, Hytönen MK, Syrjä P, Arumilli M, Järvinen A-K, Rajamäki M, Lohi H. ANLN Truncation Causes a Familial Fatal Acute Respiratory Distress Syndrome in Dalmatian Dogs. PloS Genet 13(2): e1006625, 2017
James FMK, Monteith G, Cortez M, Jokinen TS, Sanders S, Fischer A, Lohi H. Diagnostic Yield of Unsedated Wireless Video-Electroencephalography for Canine Transient Paroxysmal Events. J Vet Intern Med Jul 31, 2017 (doi: 10.1111/jvim.14789)
Johari M, Arumilli M, Palmio J, Savarese M, Tasca G, Mirabella M, Sandholm N, Lohi H, Hackman P, Udd B. Association study reveals novel risk loci for sporadic inclusion body myositis. Eur J Neurol 24(4): 572-577, 2017 (doi: 10.1111/ene.13244)
KoskinenLLE, SeppäläEH, WeisslJ, JokinenTS, ViitmaaR, HänninenRL, QuignonP, FischerA, AndréC, Lohi H.ADAM23 is a common risk gene for canine idiopathic epilepsy. BMC Genet 18: 8, 2017
Must K, Hytönen MK, Orro T, Lohi H, Jokelainen P. Toxoplasma gondiiseroprevalence affected by cat breed. PLoS One 12(9): e0184659, 2017
Niskanen J, Dillard K, Arumilli M, SalmelaE, Anttila M, LohiH, Hytönen MK. Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd Dogs. PLoS One 12(5): e0177527, 2017
OhA, PearceJW, GandolfiB, CreightonEK, SuedmeyerWK, SeligM, BosiackAP, CastanerLJ, WhitingREH, BelknapEB, LyonsLA, 99 Lives Consortium (incl. Lohi H). Early-Onset Progressive Retinal Atrophy Associated with an IQCB1 Variant in African Black-Footed Cats (Felis nigripes). Sci Rep 7: 43918, 2017 (doi: 10.1038/srep43918)
Stassen QEM, Koskinen LL, van Steenbeek FG, Seppälä ES, Jokinen TS, Prins PGM, Bok HGJ, Zandvliet MMJM, Vos-Loohuis M, Leegwater PAJ, Lohi H. Moving forward - Episodic Movement Disorder in Border Terriers: clinical, epidemiological and genetic investigations. J Vet Intern Med 31(4): 1123-1131, 2017
Stronen AV, Salmela E, Baldursdóttir BK, Berg P, Espelien IS, Gautun H, Järvi K, Jensen H, Kristensen TN, Melis C, Lohi H, Pertoldi C. Genetic rescue of an endangered domestic animal through outcrossing with closely related breeds: a case study of the Norwegian Lundehund. PLoS One 12(6): e0177429, 2017
Syrjä P, Anwar T, Jokinen T, Kyöstilä K, Hultin-Jäderlund K, Cozzi F, Rohdin C, Hahn K, Wohlsein P, Baumgärtner W, Henke D, Oevermann A, Sukura A, Leeb T, Lohi H, Eskelinen EL. Basal Autophagy is altered in Lagotto Romagnolo Dogs with Mutated ATG4D. Vet Pat 1:300985817712793, 2017 (doi: 10.1177/0300985817712793)
Wielaender F, Sarviaho R, James F, Hytönen MK, Cortez MA, Kluger G, Koskinen LLE, Arumilli M, Kornberg M, Bathen-Noethen A, Tipold A, Rentmeister K, Bhatti SFM, Hülsmeyer V, Boettcher IC, Tästensen C, Flegel T, Dietschi E, Leeb T, Matiasek K, Fischer A, Lohi H. Canine juvenile myoclonic epilepsy with photosensitivity caused by a defective Ras family GTPase DIRAS1.Proc Natl Acad Sci USA 114(10): 2669-2674, 2017 (doi: 10.1073/pnas.1614478114)
Wucher V, Legeai F, Hédan B, Rizk G, Lagoutte .. L, Leeb T, Jagannathan V, Cadieu E, David A, Lohi H, Cirera S, Fredholm M, Botherel N, Leegwater PAJ, Le BéguecC, Fieten H, Johnson J, Alföldi J, André C, Lindblad-Toh K, Hitte C, Derrien T. FEELnc: A tool for long non-coding RNA annotation and its application to the dog transcriptome. Nucleic Acids Res Jan 3 pii: gkw1306, 2017 (doi: 10.1093/nar/gkw1306)
Original articles Outi Mäkitie
Hauta-Alus H, Holmlund-Suila E, Andersson S, Mäkitie O, Viljakainen H. Reply to Letter to the Editor to Maternal vitamin D status during pregnancy in Europe: the two sides of the story. Eur J Nutr 56: 2209-2210, 2017
Hauta-Alus HH, Korkalo L, Holmlund-Suila EM, Rosendahl J, Valkama SM, Enlund-Cerullo M, Helve OM, Hytinantti TK, Mäkitie OM, Andersson S, Viljakainen HT. Food and Nutrient Intake and Nutrient Sources in 1-Year-Old Infants in Finland: A Cross-Sectional Analysis. Nutrients 9(12) pii: E1309, 2017 (doi: 10.3390/nu9121309)
Hauta-Alus HH, Viljakainen HT, Holmlund-Suila EM, Enlund-Cerullo M, Rosendahl J, Valkama SM, Helve OM, Hytinantti TK, Mäkitie OM, Andersson S. Maternal vitamin D status, gestational diabetes and infant birth size. BMC Pregnancy Childbirth 17(1): 420, 2017 (doi: 10.1186/s12884-017-1600-5)
Helve O, Viljakainen H, Holmlund-Suila E, Rosendahl J, Hauta-Alus H, Enlund-Cerullo M, Valkama S, Heinonen K, Räikkönen K, Hytinantti T, Mäkitie O, Andersson S. Towards evidence-based vitamin D supplementation in infants: vitamin D intervention in infants (VIDI) - study design and methods of a randomised controlled double-blinded intervention study. BMC Pediatr 17: 91, 2017 (doi: 10.1186/s12887-017-0845-5)
Holmlund-Suila E, Enlund-Cerullo M, Valkama S, Hauta-Alus H, Rosendahl J, Helve O, Hytinantti T, Viljakainen H, Andersson S, Mäkitie O. Sex and Iron Modify Fibroblast Growth Factor 23 Concentration in 1-Year-Old Children. J Clin Endocrinol Metab 102: 4526-4533, 2017 (doi: 10.1210/jc.2017-01211)
Pekkinen M, Grigelioniene G, Akin L, Shah K, Karaer K, Kurtoğlu S, Ekbote A, Aycan Z, Sağsak E, Danda S, Åström E, Mäkitie O. Novel mutations in the LRP5 gene in patients with Osteoporosis-pseudoglioma syndrome. Am J Med Genet A173(12): 3132-3135l 2017 (doi: 10.1002/ajmg.a.38491)
Pettersson M, Viljakainen H, Loid P, Mustila T, Pekkinen M, Armenio M, Andersson-Assarsson JC, Mäkitie O, Lindstrand A. Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways. J Clin Endocrinol Metab 102(8): 3029-3039, 2017 (doi: 10.1210/jc.2017-00565)
Rosendahl J, Holmlund-Suila E, Helve O, Viljakainen H, Hauta-Alus H, Valkama S, Enlund-Cerullo M, Hytinantti T, Tervahartiala T, Sorsa T, Mäkitie O, Andersson S. 25-hydroxyvitamin D correlates with inflammatory markers in cord blood of healthy newborns. Pediatr Res 81(5): 731-735, 2017 (doi: 10.1038/pr.2017.9)
Valkama S, Holmlund-Suila E, Enlund-Cerullo M, Rosendahl J, Hauta-Alus H, Helve O, Hytinantti T, Viljakainen H, Andersson S, Mäkitie O. No Severe Hypercalcemia with Daily Vitamin D3 Supplementation of up to 30 μg during the First Year of Life. Horm Res Paediatr 88(2): 147-154, 2017 (doi: 10.1159/000477298)
Viljakainen HT, Koistinen HA, Tervahartiala T, Sorsa T, Andersson S, Mäkitie O. Metabolic milieu associates with impaired skeletal characteristics in obesity. PLoS One 12(6): e0179660, 2017 (doi: 10.1371/journal.pone.0179660)
Välimäki VV, Mäkitie O, Pereira R, Laine C, Wesseling-Perry K, Määttä J, Kirjavainen M, Viljakainen H, Välimäki MJ. Teriparatide Treatment in Patients with WNT1 or PLS3 Mutation-Related Early-Onset Osteoporosis: A Pilot Study. JClin Endocrinol Metab 102: 535-544, 2017
Original articles Bjarne Udd
Balcin H, Palmio J, Penttilä S, Nennesmo I, Lindfors M, Solders G, Udd B. Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations. Neuromuscul Disord 27(7): 627-630, 2017 (doi: 10.1016/j.nmd.2017.04.006)
D'Amico A, Fattori F, Tasca G, Petrini S, Gualandi F, Bruselles A, D'Oria V, Verardo M, Carrozzo R, Niceta M, Udd B, Ferlini A, Tartaglia M, Bertini E. Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders. Eur J Paediatr Neurol 21(6): 873-883, 2017 (doi: 10.1016/j.ejpn.2017.07.009)
Hackman P, Ferreiro A, Bönnemann C, Udd B, Titinopathy Database Consortium. 19th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April-1 May 2016. Neuromusc Disord 27: 396-407, 2017 (doi: 10.1016/j.nmd.2017.01.009)
Harris E, Töpf A, Vihola A, Evilä A, Barresi R, Hudson J, Hackman P, Herron B, MacArthur D, Lochmüller H, Bushby K, Udd B, Straub V. A 'second truncation' in TTN causes early onset recessive muscular dystrophy. Neuromuscul Disord 27(11): 1009-1017, 2017 (doi: 10.1016/j.nmd.2017.06.013)
Johari M, Arumilli M, Palmio J, Savarese M, Tasca G, Massimiliano M, Sandholm N, Lohi H, Hackman P, Udd B. Association study reveals novel risk loci for Sporadic Inclusion Body Myositis. Eur J Neurol 24(4): 572-577, 2017
Jokela M, Huovinen S, Palmio J, Saukkonen AM, Penttilä S, Udd B. Gluteus maximus hypertrophy: A diagnostic clue in four and a half LIM domain 1-mutated reducing body myopathy. Neuromuscul Disord 27(10): 962-963, 2017 (doi: 10.1016/j.nmd.2017.06.014)
Marsolier J, Laforet P, Pegoraro E, Vissing J, Richard I; Sarcoglycanopathies Working Group (incl. Tasca G, Udd B). 1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15-16 November 2016, Evry, France. Neuromuscul Disord 27(7): 683-692, 2017 (doi: 10.1016/j.nmd.2017.02.011)
Palmio J, Sandell S, Hanna MG, Männikkö R, Penttilä S, Udd B. Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene. Neurology 88(16): 1520-1527, 2017 (doi: 10.1212/WNL.0000000000003846)
Penttilä S, Jokela M, Saukkonen AM, Toivanen J, Palmio J, Lähdesmäki J, Sandell S, Shcherbii M, Auranen M, Ylikallio E, Tyynismaa H, Udd B. CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients. J Neurol Neurosurg Psychiatry 88(3): 272-277, 2017 (doi: 10.1136/jnnp-2016-314154)
Rossi D, Palmio J, Evilä A, Galli L, Barone V, Caldwell T, Policke R, Aldkheil E, Berndsen C, Wright N, Malfatti E, Brochier G, Pierantozzi E, Jordanova A, Guergueltcheva V, Romero N, Hackman P, Eymard B, Udd B, Sorrentino V. A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy. PLoS One 12(10): e0186642, 2017 (doi: 10.1371/journal.pone.0186642)
Other publications Carina Wallgren-Pettersson
Sewry CA, Wallgren-Pettersson C. Myopathology in congenital myopathies. Neuropathol Appl Neurobiol 43(1): 5-23, 2017 (Review) (doi: 10.1111/nan.1236)
Original articles Elisabete Weiderpass
Figueiredo RAO, Roos E, Eriksson JG, Simola-Ström S, Weiderpass E. Maternal alcohol and tobacco consumption and the association with their 9 to 14-year-old children's Body Mass Index. Scand J Public Health 45(5): 503-510, 2017
Original articles Per-Henrik Groop
Ahola A, Sandholm N, Forsblom C, Harjutsalo V, Groop P-H on behalf of the FinnDiane Study Group. The serum uric acid concentration is not causally linked to diabetic nephropathy in type 1 diabetes. Kidney Int 91(5): 1178-1185, 2017
Ahola AJ, Harjutsalo V, Thorn LM, Freese R, Forsblom C, Mäkimattila S, Groop P-H, on behalf of the FinnDiane Study Group. The association between macronutrient intake and the metabolic syndrome and its components in type 1 diabetes. Br J Nutr117(3): 450-456, 2017
Ahola AJ, Saraheimo M, Freese R, Forsblom C, Mäkimattila S, Groop P-H, on behalf of the FinnDiane Study Group. Association between adherence to dietary recommendations and high-sensitivity C-reactive protein level in type 1 diabetes. Diab Res Clin Pract 126: 122-128, 2017
Ahola AJ, Lassenius MI, Forsblom C, Lehto M, Groop P-H, on behalf of the FinnDiane Study Group. Diet patterns reflecting healthy food choices are associated with lower serum LPS activity. Sci Rep 7(1): 6511, 2017
Ahola AJ, Harjutsalo V, Forsblom C, Freese R, Mäkimattila S, Groop P-H, on behalf of the FinnDiane Study Group. The self-reported use of probiotics is associated with better glycaemic control and lower odds of metabolic syndrome and its components in type 1 diabetes. J Prob Health 5: 4, 2017 (Doi: 10.4172/2329-8901.1000188)
Bernardi L, Gordin D, Bordino M, Rosengård-Bärlund M, Forsblom C, Groop P-H, on behalf of the FinnDiane Study Group. Oxygen-induced impairment in arterial function is corrected by slow breathing in patients with type 1 diabetes. Sci Rep 7(1): 6001, 2017
Gordin D, Fadl Elmula FEM, Andersson B, Gottsäter A, Elf J, Kahan T, Lodberg Christense K, Vikatmaa P, Vikatmaa L, Bastholm Olesen T, Groop P-H, Hecht Olsen M, Tikkanen I, on behalf of the Nordic BAT Study Group. The effects of baroreflex activation therapy on blood pressure and sympathetic function in patients with refractory hypertension - the rationale and design of the Nordic BAT Study. Blood Press 26(5): 294-302, 2017
Groop P-H, Cooper ME, Perkovic V, Hocher B, Kanasaki K, Haneda M, Schernthaner G, Sharma K, Stanton RC, Toto R, Cescutti J, Gordat M, Meinicke T, Koitka-Weber A, Thiemann S, von Eynatten M. Linagliptin and its effects on hyperglycaemia and albuminuria in patients with type 2 diabetes and renal dysfunction: the randomised MARLINA-T2D trial. Diabetes Obes Metab 19: 1610-1619, 2017
Hägg-Holmberg S, Thorn LM, Forsblom CM, Gordin D, Elonen N, Harjutsalo V, Liebkind R, Putaala J, Tatlisumak T, Groop P-H, on behalf of the FinnDiane Study Group. Prognosis and its predictors after incident stroke in patients with type 1 diabetes. Diabetes Care 40: 1394-1400, 2017
Janssen JAML, Llaurado G, Varewijck AJ, Groop P-H, Forsblom C, Fernández-Veledo S, van den Dungen ESR, Vendrell J, Hofland LJ, Yki-Järvinen H. Serum insulin bioassay reflects insulin sensitivity and requirements in type 1 diabetes. J Clin Endocrinol Metab 102(10): 3814-3821, 2017
Johari M, Arumilli M, Palmio J, Savarese M, Tasca G, Mirabella M, Sandholm N, Lohi H, Hackman P, Udd B. Association study reveals novel risk loci for sporadic inclusion body myositis. Eur J Neurol 24(4): 572-577, 2017 (doi: 10.1111/ene.13244)
Lassenius MI, Fogarty CL, Blaut M, Haimila K, Riittinen L, Paju A, Kirveskari J, Järvelä J, Ahola AJ, Gordin D, Härma A-M, Kumar A, Hamarneh SR, Hodin RA, Sorsa T, Tervahartiala T, Hörkkö S, Pussinen PJ, Forsblom C, Jauhiainen M, Taskinen M-R, Groop P-H, Lehto M, on behalf of the FinnDiane Study Group. Intestinal alkaline phosphatase at the crossroad of intestinal health and disease - a putative role in type 1 diabetes. J Intern Med 281(6): 586-600, 2017
Lithovius R, Toppila I, Harjutsalo V, Forsblom C, Groop P-H, Mäkinen V-P, on behalf of the FinnDiane Study Group. Data-driven metabolic subtypes predict future adverse events in individuals with type 1 diabetes. Diabetologia 60(7): 1234-1243, 2017
Mardinoglu A, Stancakova A, Kuusisto J, Bore J, Blüher M, Ferrannini E, Groop P-H, Laakso M, Langenberg C, Lotta LA, Wareham NJ, Smith U. Plasma mannose levels are associated with incident type 2 diabetes and cardiovascular disease. Cell Metab 26 (2): 281-283, 2017
Miettinen ME, Kinnunen L, Harjutsalo V, Aimonen K, Surcel HM, Lamberg-Allardt C, Tuomilehto J. Association of serum 25-hydroxyvitamin D concentration with HLA-B, -DRB1 and -DQB1 genetic polymorphisms. Eur J Clin Nutr 71(1): 128-131, 2017
Miettinen ME, Smart MC, Kinnunen L, Harjutsalo V, Reinert-Hartwall L, Ylivinkka I, Surcel HM, Lamberg-Allardt C, Hitman GA, Tuomilehto J. Genetic determinants of serum 25-hydroxyvitamin D concentration during pregnancy and type 1 diabetes in the child. PLoS One 12(10): e0184942, 2017
Panduru NM, Forsblom C, Saraheimo M, Thorn LM, Gordin D, Tolonen N, Harjutsalo V, Bierhaus A, Humpert PM, Groop P-H, on behalf of the FinnDiane Study Group. Urinary liver-type fatty acid binding protein is an independent predictor of stroke and mortality in individuals with type 1 diabetes. Diabetologia 60 (9): 1782-1790, 2017
Parsa A, Kanetsky PA, Mitra N, Gupta J, Anderson AH, Limou S, Xiao R, Ojo A, Kusek JW, Lora CM, Hamm LL, He J, Xu H, Sandholm N, Jeff J, Raj DE, Böger CA, Bottinger E, Salimi S, Parekh RS, Adler SG, Langefeld CD, Bowden DW, FIND Consortium, Groop P-H, Forsblom C, Freedman BI, Lipkowitz M, Fox CS, Winkler CA, Feldman HI, and the Chronic Renal Insufficiency Cohort (CRIC) Study Investigators.Genome-wide association of CKD progression: The Chronic Renal Insufficiency Cohort Study. J Am Soc Nephrol 28(9): 923-934, 2017
Putaala J, Martinez-Majander N, Saeed S, Yesilot N, Jäkälä P, Nerg O, Tsivgoulis, G, Numminen H, Gordin D, von Sarnowski B, Waje-Andreassen U, Ylikotila P, Roine RO, Zedde M, Huhtakangas J, Fonseca C, Redfors P, de Leeuw F-E, Pezzini A, Kõrv J, Schneider S, Tanislav C, Enzinger C, Dalius Jatuzis D, Siegerink B, Martínez-Sánchez P, Grau AJ, Palm F, Groop P-H, Lanthier S, Ten Cate H, Pussinen P, Paju S, Sinisalo J, Lehto M, Lindgren A, Ferro J, Kittner S, Fazekas F, Gerdts E, Tatlisumak T. Searching for Explanations for Cryptogenic Stroke in the Young: Revealing the Triggers, Causes, and Outcome (SECRETO): Rationale and Design. Eur Stroke J2: 116-125, 2017
SalonenKM, RyhänenSJ, ForbesJM, HärkönenT, IlonenJ, SimellO, VeijolaR, GroopP-H, Knip M. A drop in the circulating concentrations of soluble receptor forAGEs is associated with seroconversion to autoantibody positivity but not with subsequent progression to clinical disease in children en route to type 1 diabetes. Diabetes Metab Res Rev 33(4): e2872, 2017 (doi: 10.1002/dmrr.2872)
Sandholm N, Van Zuydam N, Ahlqvist E, Juliusdottir T, Deshmukh HA, Rayner NW, Di Camillo B, Forsblom C, Fadista J, Ziemek D, Salem RM, Hiraki LT, Pezzolesi M, Trégouët D, Dahlström E, Valo E, Oskolkov N, Ladenvall C, Marcovecchio ML, Cooper J, Sambo F, Malovini A, Manfrini M, McKnight AJ, Lajer M, Harjutsalo V, Gordin D, Parkkonen M, Tuomilehto J, Lyssenko V, McKeigue PM, Rich SS, Brosnan MJ, Fauman E, Bellazzi R, Rossing P, Hadjadj S, Krolewski AS, Paterson AD, Florez JC, Hirschhorn JN, Maxwell AP, Dunger D, The DCCT/EDIC Study Group, GENIE Consortium, The FinnDiane Study Group, Cobelli C, Colhoun HM, Groop L, McCarthy MI, Groop P-H, on behalf of The SUMMIT Consortium. Genetic landscape of renal complications in type 1 diabetes. J Am Soc Nephrol 28: 557-574, 2017
Skyler JS, Bakris GL, Bonifacio E, Darrow T, Eckel RH, Groop L, Groop P-H, Handelsman Y, Insel RA, Mathieu C, McElvaine AT, Palmer JP, Pugliese A, Schatz DA, Sosenko JM, Wilding JPH, Ratner RE. Differentiation of diabetes by pathophysiology, natural history and prognosis. Diabetes 66: 241-255, 2017
Tikkanen-Dolenc H, Wadén J, Forsblom C, Harjutsalo V, Thorn LM, Saraheimo M, Elonen N, Tikkanen H, Groop P-H, on behalf of the FinnDiane Study Group. Physical activity reduces risk of premature mortality in patients with type 2 diabetes with and without kidney disease. Diabetes Care 40: 1727-1732, 2017
Tikkanen-Dolenc H, Wadén J, Forsblom J, Harjutsalo V, Thorn LM, Saraheimo M, Tolonen N, Rosengård-Bärlund M, Gordin D, Tikkanen HO, Groop P-H, on behalf of the FinnDiane Study Group. Frequent and intensive physical activity exercise reduces risk of cardiovascular events in type 1 diabetes. Diabetologia 60: 574-580, 2017
Wasik AA, Dumont V, Tienari J, Nyman TA, Fogarty CL, Forsblom C, Lehto M, Groop P-H, Lehtonen S. Septin 7 reduces nonmuscle myosin IIA activity in the SNAP23 complex and hinders GLUT4 storage vesicle docking and fusion. Experimental Cell Res 350: 336-348, 2017
Other publications Per-Henrik Groop
Dahlström E, Sandholm N. Progress in Defining the Genetic Basis of Diabetic Complications. (Review) Curr Diab Rep 17(9): 80, 2017 (doi: 10.1007/s11892-017-0906-z)
Original articles Tiinamaija Tuomi
Flannick J, Fuchsberger C, Mahajan A, Teslovich TM, Agarwala V, Gaulton KJ, Caulkins L, Koesterer R, Ma C, Moutsianas L, McCarthy DJ, Rivas MA, Perry JRB, Sim X, Blackwell TW, Robertson NR, Rayner NW, Cingolani P, Locke AE, Tajes JF, Highland HM, Dupuis J, Chines PS, Lindgren CM, Hartl C, Jackson AU, Chen H, Huyghe JR, van de Bunt M, et al. Sci Data 4:170179, 2017 (doi: 10.1038/sdata.2017.179)
Hjort R, Alfredsson L, Andersson T, Carlsson PO, Grill V, Groop L, Martinell M, Rasouli B, Storm P, Tuomi T, Carlsson S. Family history of type 1 and type 2 diabetes and risk of latent autoimmune diabetes in adults (LADA). Diabetes Metab 43(6): 536-542, 2017 (doi: 10.1016/j.diabet.2017.05.010)
Kettunen JLT, Parviainen H, Miettinen PJ, Färkkilä M, Tamminen M, Salonen P, Lantto E, Tuomi T. Biliary Anomalies in Patients With HNF1B Diabetes. J Clin Endocrinol Metab 102(6): 2075-2082, 2017 (doi: 10.1210/jc.2017-00061)
Kraja AT, Cook JP, Warren HR, Surendran P, Liu C, Evangelou E, Manning AK, Grarup N, Drenos F, Sim X, Smith AV, Amin N, Blakemore AIF, Bork-Jensen J, Brandslund I, Farmaki AE, Fava C, Ferreira T, Herzig KH, Giri A, Giulianini F, Grove ML, Guo X, Harris SE, Have CT, Havulinna AS, Zhang H, Jørgensen ME, Käräjämäki A, Kooperberg C, Linneberg A, Little L, Liu Y, Bonnycastle LL, Lu Y, Mägi R, Mahajan A, Malerba G, Marioni RE, et al. New Blood Pressure-Associated Loci Identified in Meta-Analyses of 475000 Individuals. Circ Cardiovasc Genet 10(5) pii: e001778, 2017 (doi: 10.1161/CIRCGENETICS.117.001778)
Manning A, Highland HM, Gasser J, Sim X, Tukiainen T, Fontanillas P, Grarup N, Rivas MA, Mahajan A, Locke AE, Cingolani P, Pers TH, Viñuela A, Brown AA, Wu Y, Flannick J, Fuchsberger C, Gamazon ER, Gaulton KJ, Im HK, Teslovich TM, Blackwell TW, Bork-Jensen J, Burtt NP, Chen Y, Green T, Hartl C, Kang HM, Kumar A, Ladenvall C, Ma C, Moutsianas L, Pearson RD, Perry JRB, Rayner NW, Robertson NR, Scott LJ, van de Bunt M, Eriksson JG, et al. A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk. Diabetes 66(7): 2019-2032, 2017 (doi: 10.2337/db16-1329)
Patel KA, Kettunen J, Laakso M, Stančáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, Shepherd MH, Flanagan SE, Ellard S, Comment [VAMT15]: https://www.folkhan.fi/en/research/genetics/group-tuomi/ Inagaki N, Hattersley AT, Tuomi T, Cnop M, Weedon MN. Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance. Nat Commun 8(1): 888, 2017 (doi: 10.1038/s41467-017-00895-9)
Peddinti G, Cobb J, Yengo L, Froguel P, Kravić J, Balkau B, Tuomi T, Aittokallio T, Groop L. Early metabolic markers identify potential targets for the prevention of type 2 diabetes. Diabetologia 60(9): 1740-1750, 2017 (doi: 10.1007/s00125-017-4325-0)
Rasouli B, Andersson T, Carlsson PO, Grill V, Groop L, Martinell M, Midthjell K, Storm P, Tuomi T, Carlsson S. Use of Swedish smokeless tobacco (snus) and the risk of Type 2 diabetes and latent autoimmune diabetes of adulthood (LADA). Diabet Med 34(4): 514-521, 2017 (doi: 10.1111/dme.13179)
Rasouli B, Andersson T, Carlsson PO, Hjort R, Löfvenborg JE, Martinell M, Groop L, Tuomi T, Carlsson S. Serious life events and the risk of latent autoimmune diabetes in adults (LADA) and Type 2 diabetes. Diabet Med 34(9): 1259-1263, 2017 (doi: 10.1111/dme.13410)
Scott RA, Scott LJ, Mägi R, Marullo L, Gaulton KJ, Kaakinen M, Pervjakova N, Pers TH, Johnson AD, Eicher JD, Jackson AU, Ferreira T, Lee Y, Ma C, Steinthorsdottir V, Thorleifsson G, Qi L, Van Zuydam NR, Mahajan A, Chen H, Almgren P, Voight BF, Grallert H, Müller-Nurasyid M, Ried JS, Rayner NW, Robertson N, Karssen LC, van Leeuwen EM, Willems SM, Fuchsberger C, Kwan P, Teslovich TM, Chanda P, Li M, Lu Y, Dina C, Thuillier D, Yengo L, Jiang L, Sparso T, Kestler HA, Chheda H, Eisele L, Gustafsson S, Frånberg M, Strawbridge RJ, Benediktsson R, Hreidarsson AB, Kong A, Sigurðsson G, Kerrison ND, Luan J, Liang L, Meitinger T, Roden M, Thorand B, Esko T, Mihailov E, Fox C, Liu CT, Rybin D, Isomaa B, Lyssenko V, Tuomi T, et al. An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans. Diabetes 66(11): 2888-2902, 2017 (doi: 10.2337/db16-1253)
Wagner R, Hakaste LH, Ahlqvist E, Heni M, Machann J, Schick F, Van Obberghen E, Stefan N, Gallwitz B, Tuomi T, Häring HU, Groop L, Fritsche A. Nonsuppressed Glucagon After Glucose Challenge as a Potential Predictor for Glucose Tolerance. Diabetes 66(5): 1373-1379, 2017 (doi: 10.2337/db16-0354)
Original articles Mikael Knip
Haghighi M, Johnson SB, Qian X, Lynch KF, Vehik K, Huang S; TEDDY Study Group.Corrigendum: A Comparison of Rule-based Analysis with Regression Methods in Understanding the Risk Factors for Study Withdrawal in a Pediatric Study. Sci Rep 7: 39723, 2017 (doi: 10.1038/srep39723)
Hakola L, Takkinen HM, Niinistö S, Ahonen S, Erlund I, Rautanen J, Veijola R, Ilonen J, Toppari J, Knip M, Virtanen SM, Lehtinen-Jacks S. Maternal fatty acid intake during pregnancy and the development of childhood overweight: a birth cohort study. Pediatr Obes 12(Suppl 1): 26-37, 2017 (doi: 10.1111/ijpo.12170)
Honkanen H, Oikarinen S, Nurminen N, Laitinen OH, Huhtala H, Lehtonen J, Ruokoranta T, Hankaniemi MM, Lecouturier V, Almond JW, Tauriainen S, Simell O, Ilonen J, Veijola R, Viskari H, Knip M, Hyöty H. Detection of enteroviruses in stools precedes islet autoimmunity by several months: possible evidence for slowly operating mechanisms in virus-induced autoimmunity. Diabetologia 60(3): 424-431, 2017 (doi: 10.1007/s00125-016-4177-z)
Hyytinen M, Savilahti E, Virtanen SM, Härkönen T, Ilonen J, Luopajärvi K, Uibo R, Vaarala O, Åkerblom HK, Knip M; Finnish TRIGR Pilot Study Group. Avoidance of Cow's Milk-Based Formula for At-Risk Infants Does Not Reduce Development of Celiac Disease: A Randomized Controlled Trial. Gastroenterology 153(4): 961-970.e3, 2017 (doi: 10.1053/j.gastro.2017.06.049)
Hämäläinen N, Nwaru BI, Erlund I, Takkinen HM, Ahonen S, Toppari J, Ilonen J, Veijola R, Knip M, Kaila M, Virtanen SM. Serum carotenoid and tocopherol concentrations and risk of asthma in childhood: a nested case-control study. Clin Exp Allergy 47(3): 401-409, 2017 (doi: 10.1111/cea.12904)
Knip M. Metabolically inactive insulin: friend or foe in the prevention of autoimmune diabetes? Diabetologia 60(8): 1382-1384, 2017 (doi: 10.1007/s00125-017-4319-y)
Knip M, Luopajärvi K, Härkönen T. Early life origin of type 1 diabetes. Semin Immunopathol 39(6): 653-667, 2017 (doi: 10.1007/s00281-017-0665-6)
Knip M, Selvenius J, Siljander H, Veijola R. Reclassification of asymptomatic beta cell autoimmunity: a critical perspective. Diabetologia 60(1): 39-42, 2017
Köhler M, Beyerlein A, Vehik K, Greven S, Umlauf N, Lernmark Å, Hagopian WA, Rewers M, She JX, Toppari J, Akolkar B, Krischer JP, Bonifacio E, Ziegler AG; TEDDY study group. Joint modeling of longitudinal autoantibody patterns and progression to type 1 diabetes: results from the TEDDY study. Acta Diabetol 54(11): 1009-1017, 2017 (doi: 10.1007/s00592-017-1033-7)
Lundgren M, Steed LJ, Tamura R, Jonsdottir B, Gesualdo P, Crouch C, Sjöberg M, Hansson G, Hagopian WA, Ziegler AG, Rewers MJ, Lernmark Å, Toppari J, She JX, Akolkar B, Krischer JP, Haller MJ, Elding Larsson H; TEDDY Study Group. Analgesic antipyretic use among young children in the TEDDY study: no association with islet autoimmunity. BMC Pediatr 17(1): 127, 2017 (doi: 10.1186/s12887-017-0884-y)
Mikk ML, Heikkinen T, El-Amir MI, Kiviniemi M, Laine AP, Härkönen T, Veijola R, Toppari J, Knip M, Ilonen J; Finnish Paediatric Diabetes Register. The association of the HLA-A*24:02, B*39:01 and B*39:06 alleles with type 1 diabetes is restricted to specific HLA-DR/DQ haplotypes in Finns. HLA 89(4): 215-224, 2017 (doi: 10.1111/tan.12967)
Niinistö S, Takkinen HM, Erlund I, Ahonen S, Toppari J, Ilonen J, Veijola R, Knip M, Vaarala O, Virtanen SM. Fatty acid status in infancy is associated with the risk of type 1 diabetes-associated autoimmunity. Diabetologia 60(7): 1223-1233, 2017 (doi: 10.1007/s00125-017-4280-9)
Nucci AM, Virtanen SM, Sorkio S, Bärlund S, Cuthbertson D, Uusitalo U, Lawson ML, Salonen M, Berseth CL, Ormisson A, Lehtonen E, Savilahti E, Becker DJ, Dupré J, Krischer JP, Knip M, Åkerblom HK; TRIGR Investigators. Regional differences in milk and complementary feeding patterns in infants participating in an international nutritional type 1 diabetes prevention trial. Matern Child Nutr 13(3), 2017. (doi: 10.1111/mcn.12354)
Nwaru BI, Hadkhale K, Hämäläinen N, Takkinen HM, Ahonen S, Ilonen J, Toppari J, Niemelä O, Haapala AM, Veijola R, Knip M, Virtanen SM. Vitamin D intake during the first 4 years and onset of asthma by age 5: A nested case-control study. Pediatr Allergy Immunol 28(7): 641-648, 2017 (doi: 10.1111/pai.12773)
Parkkola A, Laine AP, Karhunen M, Härkönen T, Ryhänen SJ, Ilonen J, Knip M; Finnish Pediatric Diabetes Register. HLA and non-HLA genes and familial predisposition to autoimmune diseases in families with a child affected by type 1 diabetes. PLoS One 12(11): e0188402, 2017 (doi: 10.1371/journal.pone.0188402)
Pöllänen PM, Lempainen J, Laine AP, Toppari J, Veijola R, Vähäsalo P, Ilonen J, Siljander H, Knip M. Characterisation of rapid progressors to type 1 diabetes among children with HLA-conferred disease susceptibility. Diabetologia 60(7): 1284-1293, 2017 (doi: 10.1007/s00125-017-4258-7)
SalonenKM, RyhänenSJ, ForbesJM, HärkönenT, IlonenJ, SimellO, VeijolaR, GroopP-H, Knip M. A drop in the circulating concentrations of soluble receptor for AGEs is associated with seroconversion to autoantibody positivity but not with subsequent progression to clinical disease in children en route to type 1 diabetes.Diabetes Metab Res Rev 33(4): e2872, 2017 (doi: 10.1002/dmrr.2872)
Simre K, Uibo O, Tillmann V, Knip M, Uibo R. Reply to "Antibiotics, intestinal dysbiosis and risk of celiac disease" by Hakim Rahmoune et al. [Digestive and Liver Disease]. Dig Liver Dis 49(1): 106-107, 2017 (doi: 10.1016/j.dld.2016.10.009)
Tuokkola J, Luukkainen P, Nevalainen J, Ahonen S, Toppari J, Ilonen J, Veijola R, Knip M, Virtanen SM, Kaila M. Eliminating cows' milk, but not wheat, barley or rye, increases the risk of growth deceleration and nutritional inadequacies. Acta Paediatr106(7): 1142-1149, 2017 (doi: 10.1111/apa.13846)
Viisanen T, Ihantola EL, Näntö-Salonen K, Hyöty H, Nurminen N, Selvenius J, Juutilainen A, Moilanen L, Pihlajamäki J, Veijola R, Toppari J, Knip M, Ilonen J, Kinnunen T. Circulating CXCR5+PD-1+ICOS+ Follicular T Helper Cells Are Increased Close to the Diagnosis of Type 1 Diabetes in Children With Multiple Autoantibodies. Diabetes 66(2): 437-447, 2017 (doi: 10.2337/db16-0714)
Wood PL, Siljander H, Knip M. Lipidomics of human umbilical cord serum: identification of unique sterol sulfates. Future Sci OA 3(3): FSO193, 2017 (doi: 10.4155/fsoa-2017-0012)
Zhao G, Vatanen T, Droit L, Park A, Kostic AD, Poon TW, Vlamakis H, Siljander H, Härkönen T, Hämäläinen AM, Peet A, Tillmann V, Ilonen J, Wang D, Knip M, Xavier RJ, Virgin HW. Intestinal virome changes precede autoimmunity in type I diabetes-susceptible children. Proc Natl Acad Sci U S A 114(30): E6166-E6175, 2017 (doi: 10.1073/pnas.1706359114)
Other publications Mikael Knip
Knip M, Honkanen J. Modulation of Type 1 Diabetes Risk by the Intestinal Microbiome. Curr Diab Rep (Review) 17(11): 105, 2017 (doi: 10.1007/s11892-017-0933-9)