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Items: 1 to 50 of 514

1.

A putative silencer variant in a spontaneous canine model of retinitis pigmentosa.

Kaukonen M, Quintero IB, Mukarram AK, Hytönen MK, Holopainen S, Wickström K, Kyöstilä K, Arumilli M, Jalomäki S, Daub CO, Kere J, Lohi H; DoGA Consortium.

PLoS Genet. 2020 Mar 9;16(3):e1008659. doi: 10.1371/journal.pgen.1008659. eCollection 2020 Mar.

2.

Single-cell analysis of human ovarian cortex identifies distinct cell populations but no oogonial stem cells.

Wagner M, Yoshihara M, Douagi I, Damdimopoulos A, Panula S, Petropoulos S, Lu H, Pettersson K, Palm K, Katayama S, Hovatta O, Kere J, Lanner F, Damdimopoulou P.

Nat Commun. 2020 Mar 2;11(1):1147. doi: 10.1038/s41467-020-14936-3.

3.

Epigenome-wide meta-analysis of blood DNA methylation in newborns and children identifies numerous loci related to gestational age.

Merid SK, Novoloaca A, Sharp GC, Küpers LK, Kho AT, Roy R, Gao L, Annesi-Maesano I, Jain P, Plusquin M, Kogevinas M, Allard C, Vehmeijer FO, Kazmi N, Salas LA, Rezwan FI, Zhang H, Sebert S, Czamara D, Rifas-Shiman SL, Melton PE, Lawlor DA, Pershagen G, Breton CV, Huen K, Baiz N, Gagliardi L, Nawrot TS, Corpeleijn E, Perron P, Duijts L, Nohr EA, Bustamante M, Ewart SL, Karmaus W, Zhao S, Page CM, Herceg Z, Jarvelin MR, Lahti J, Baccarelli AA, Anderson D, Kachroo P, Relton CL, Bergström A, Eskenazi B, Soomro MH, Vineis P, Snieder H, Bouchard L, Jaddoe VW, Sørensen TIA, Vrijheid M, Arshad SH, Holloway JW, Håberg SE, Magnus P, Dwyer T, Binder EB, DeMeo DL, Vonk JM, Newnham J, Tantisira KG, Kull I, Wiemels JL, Heude B, Sunyer J, Nystad W, Munthe-Kaas MC, Räikkönen K, Oken E, Huang RC, Weiss ST, Antó JM, Bousquet J, Kumar A, Söderhäll C, Almqvist C, Cardenas A, Gruzieva O, Xu CJ, Reese SE, Kere J, Brodin P, Solomon O, Wielscher M, Holland N, Ghantous A, Hivert MF, Felix JF, Koppelman GH, London SJ, Melén E.

Genome Med. 2020 Mar 2;12(1):25. doi: 10.1186/s13073-020-0716-9.

4.

Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency.

Tuovinen EA, Grönholm J, Öhman T, Pöysti S, Toivonen R, Kreutzman A, Heiskanen K, Trotta L, Toiviainen-Salo S, Routes JM, Verbsky J, Mustjoki S, Saarela J, Kere J, Varjosalo M, Hänninen A, Seppänen MRJ.

J Clin Immunol. 2020 Feb 19. doi: 10.1007/s10875-020-00745-2. [Epub ahead of print]

PMID:
32072341
5.

Motor function deficits in the estrogen receptor beta knockout mouse: Role on excitatory neurotransmission and myelination in the motor cortex.

Varshney MK, Yu NY, Katayama S, Li X, Liu T, Wu WF, Töhönen V, Krjutškov K, Kere J, Fan X, Inzunza J, Gustafsson JÅ, Nalvarte I.

Neuroendocrinology. 2020 Jan 28. doi: 10.1159/000506162. [Epub ahead of print]

6.

Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma.

Harjama L, Kettunen K, Elomaa O, Einarsdottir E, Heikkilä H, Kivirikko S, Lappalainen K, Saarela J, Alby C, Ranki A, Kere J, Hadj-Rabia S, Hannula-Jouppi K.

Acta Derm Venereol. 2020 Feb 25;100(4):adv00060. doi: 10.2340/00015555-3404. No abstract available.

7.

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles.

Keskitalo S, Haapaniemi E, Einarsdottir E, Rajamäki K, Heikkilä H, Ilander M, 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.

Front Immunol. 2019 Dec 5;10:2770. doi: 10.3389/fimmu.2019.02770. eCollection 2019.

8.

Discovery of increased epidermal DNAH10 expression after regeneration of dermis in a randomized with-in person trial - reflections on psoriatic inflammation.

Lagus H, Klaas M, Juteau S, Elomaa O, Kere J, Vuola J, Jaks V, Kankuri E.

Sci Rep. 2019 Dec 13;9(1):19136. doi: 10.1038/s41598-019-53874-z.

9.

Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation.

Hannula-Jouppi K, Harjama L, Einarsdottir E, Elomaa O, Kettunen K, Saarela J, Soronen M, Bouchard L, Lappalainen K, Heikkilä H, Kivirikko S, Seppänen MR, Kere J, Ranki A.

J Am Acad Dermatol. 2019 Nov 7. pii: S0190-9622(19)33004-X. doi: 10.1016/j.jaad.2019.11.004. [Epub ahead of print]

10.

ABO Genotype and Blood Type Are Associated with Otitis Media.

Wiesen BM, Hafrén L, Einarsdottir E, Kere J, Mattila PS, Santos-Cortez RLP.

Genet Test Mol Biomarkers. 2019 Nov;23(11):823-827. doi: 10.1089/gtmb.2019.0135.

PMID:
31693456
11.

Complement in Human Pre-implantation Embryos: Attack and Defense.

Reichhardt MP, Lundin K, Lokki AI, Recher G, Vuoristo S, Katayama S, Tapanainen JS, Kere J, Meri S, Tuuri T.

Front Immunol. 2019 Sep 18;10:2234. doi: 10.3389/fimmu.2019.02234. eCollection 2019.

12.

Microbe-host interplay in atopic dermatitis and psoriasis.

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.

Nat Commun. 2019 Oct 16;10(1):4703. doi: 10.1038/s41467-019-12253-y.

13.

Acute wheeze-specific gene module shows correlation with vitamin D and asthma medication.

Katayama S, Stenberg Hammar K, Krjutškov K, Einarsdottir E, Hedlin G, Kere J, Söderhäll C.

Eur Respir J. 2020 Jan 23;55(1). pii: 1901330. doi: 10.1183/13993003.01330-2019. Print 2020 Jan.

PMID:
31619476
14.

The human long non-coding RNA gene RMRP has pleiotropic effects and regulates cell-cycle progression at G2.

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.

Sci Rep. 2019 Sep 24;9(1):13758. doi: 10.1038/s41598-019-50334-6.

15.

NET-CAGE characterizes the dynamics and topology of human transcribed cis-regulatory elements.

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.

Nat Genet. 2019 Sep;51(9):1369-1379. doi: 10.1038/s41588-019-0485-9. Epub 2019 Sep 2.

PMID:
31477927
16.

DNA Methylation Trajectories During Pregnancy.

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 SH, Pershagen G.

Epigenet Insights. 2019 Aug 13;12:2516865719867090. doi: 10.1177/2516865719867090. eCollection 2019.

17.

Guide for library design and bias correction for large-scale transcriptome studies using highly multiplexed RNAseq methods.

Katayama S, Skoog T, Söderhäll C, Einarsdottir E, Krjutškov K, Kere J.

BMC Bioinformatics. 2019 Aug 13;20(1):418. doi: 10.1186/s12859-019-3017-9.

18.

Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease.

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.

NPJ Genom Med. 2019 Jun 27;4:14. doi: 10.1038/s41525-019-0088-5. eCollection 2019.

19.

Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy.

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.

J Allergy Clin Immunol. 2019 Nov;144(5):1364-1376. doi: 10.1016/j.jaci.2019.06.003. Epub 2019 Jun 13.

20.

Pleomorphic Adenoma Gene 1 Is Needed For Timely Zygotic Genome Activation and Early Embryo Development.

Madissoon E, Damdimopoulos A, Katayama S, Krjutškov K, Einarsdottir E, Mamia K, De Groef B, Hovatta O, Kere J, Damdimopoulou P.

Sci Rep. 2019 Jun 10;9(1):8411. doi: 10.1038/s41598-019-44882-0.

21.

Prenatal Particulate Air Pollution and DNA Methylation in Newborns: An Epigenome-Wide Meta-Analysis.

Gruzieva O, Xu CJ, Yousefi P, Relton C, Merid SK, Breton CV, Gao L, Volk HE, Feinberg JI, Ladd-Acosta C, Bakulski K, Auffray C, Lemonnier N, Plusquin M, Ghantous A, Herceg Z, Nawrot TS, Pizzi C, Richiardi L, Rusconi F, Vineis P, Kogevinas M, Felix JF, Duijts L, den Dekker HT, Jaddoe VWV, Ruiz JL, Bustamante M, Antó JM, Sunyer J, Vrijheid M, Gutzkow KB, Grazuleviciene R, Hernandez-Ferrer C, Annesi-Maesano I, Lepeule J, Bousquet J, Bergström A, Kull I, Söderhäll C, Kere J, Gehring U, Brunekreef B, Just AC, Wright RJ, Peng C, Gold DR, Kloog I, DeMeo DL, Pershagen G, Koppelman GH, London SJ, Baccarelli AA, Melén E.

Environ Health Perspect. 2019 May;127(5):57012. doi: 10.1289/EHP4522. Epub 2019 May 31.

22.

Meta-analysis of epigenome-wide association studies in neonates reveals widespread differential DNA methylation associated with birthweight.

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 CJ, Huang RC, van der Plaat DA, Wielscher M, Merid SK, 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 MR, 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, Gong YY, Richiardi L, Kogevinas M, Litonjua AA, Eskenazi B, Huen K, 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 MF, Sunyer J, Munthe-Kaas MC, Murphy SK, Corpeleijn E, Wiemels J, Holland N, Herceg Z, Binder EB, Davey Smith G, Jaddoe VWV, Lie RT, Nystad W, London SJ, Lawlor DA, Relton CL, Snieder H, Felix JF.

Nat Commun. 2019 Apr 23;10(1):1893. doi: 10.1038/s41467-019-09671-3.

23.

Pool-seq driven proteogenomic database for Group G Streptococcus.

Weldatsadik RG, Datta N, Kolmeder C, Vuopio J, Kere J, Wilkman SV, Flatt JW, Vuento R, Haapasalo KJ, Keskitalo S, Varjosalo M, Jokiranta TS.

J Proteomics. 2019 Jun 15;201:84-92. doi: 10.1016/j.jprot.2019.04.015. Epub 2019 Apr 20.

PMID:
31015036
24.

A2ML1 and otitis media: novel variants, differential expression, and relevant pathways.

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.

Hum Mutat. 2019 Aug;40(8):1156-1171. doi: 10.1002/humu.23769. Epub 2019 May 21.

PMID:
31009165
25.

Delineating the Healthy Human Skin UV Response and Early Induction of Interferon Pathway in Cutaneous Lupus Erythematosus.

Katayama S, Panelius J, Koskenmies S, Skoog T, Mähönen K, Kisand K, Bondet V, Duffy D, Krjutškov K, Kere J, Ranki A.

J Invest Dermatol. 2019 Sep;139(9):2058-2061.e4. doi: 10.1016/j.jid.2019.02.035. Epub 2019 Apr 8. No abstract available.

PMID:
30974166
26.

A preliminary transcriptome analysis suggests a transitory effect of vitamin D on mitochondrial function in obese young Finnish subjects.

Einarsdottir E, Pekkinen M, Krjutškov K, Katayama S, Kere J, Mäkitie O, Viljakainen H.

Endocr Connect. 2019 May 1;8(5):559-570. doi: 10.1530/EC-18-0537.

27.

Nocturnal asthma is affected by genetic interactions between RORA and NPSR1.

Gaertner VD, Michel S, Curtin JA, 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, Simpson A, Custovic A, Kere J, Kabesch M.

Pediatr Pulmonol. 2019 Jun;54(6):847-857. doi: 10.1002/ppul.24292. Epub 2019 Mar 29.

PMID:
30927345
28.

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions.

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.

Nat Commun. 2019 Mar 27;10(1):1396. doi: 10.1038/s41467-019-09111-2.

29.

Cationic gold nanoparticles elicit mitochondrial dysfunction: a multi-omics study.

Gallud A, Klöditz K, Ytterberg J, Östberg N, Katayama S, Skoog T, Gogvadze V, Chen YZ, Xue D, Moya S, Ruiz J, Astruc D, Zubarev R, Kere J, Fadeel B.

Sci Rep. 2019 Mar 13;9(1):4366. doi: 10.1038/s41598-019-40579-6.

30.

A multiethnic meta-analysis defined the association of rs12946942 with severe adolescent idiopathic scoliosis.

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 YQ, Gerdhem P, Watanabe K, Ikegawa S.

J Hum Genet. 2019 May;64(5):493-498. doi: 10.1038/s10038-019-0575-7. Epub 2019 Feb 21.

PMID:
30787423
31.

Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia.

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.

Transl Psychiatry. 2019 Feb 11;9(1):77. doi: 10.1038/s41398-019-0402-0.

32.

Discovering heritable modes of MEG spectral power.

Leppäaho E, Renvall H, Salmela E, Kere J, Salmelin R, Kaski S.

Hum Brain Mapp. 2019 Apr 1;40(5):1391-1402. doi: 10.1002/hbm.24454. Epub 2019 Jan 1.

33.

TAC-seq: targeted DNA and RNA sequencing for precise biomarker molecule counting.

Teder H, Koel M, Paluoja P, Jatsenko T, Rekker K, Laisk-Podar T, Kukuškina V, Velthut-Meikas A, Fjodorova O, Peters M, Kere J, Salumets A, Palta P, Krjutškov K.

NPJ Genom Med. 2018 Dec 18;3:34. doi: 10.1038/s41525-018-0072-5. eCollection 2018.

34.

Epigenome-wide meta-analysis of DNA methylation and childhood asthma.

Reese SE, Xu CJ, den Dekker HT, Lee MK, Sikdar S, Ruiz-Arenas C, Merid SK, Rezwan FI, Page CM, Ullemar V, Melton PE, Oh SS, Yang IV, Burrows K, Söderhäll C, Jima DD, Gao L, Arathimos R, Küpers LK, Wielscher M, Rzehak P, Lahti J, Laprise C, Madore AM, Ward J, Bennett BD, Wang T, Bell DA; BIOS consortium, Vonk JM, Håberg SE, Zhao S, Karlsson R, Hollams E, Hu D, Richards AJ, Bergström A, Sharp GC, Felix JF, Bustamante M, Gruzieva O, Maguire RL, Gilliland F, Baïz N, Nohr EA, Corpeleijn E, Sebert S, Karmaus W, Grote V, Kajantie E, Magnus MC, Örtqvist AK, Eng C, Liu AH, Kull I, Jaddoe VWV, Sunyer J, Kere J, Hoyo C, Annesi-Maesano I, Arshad SH, Koletzko B, Brunekreef B, Binder EB, Räikkönen K, Reischl E, Holloway JW, Jarvelin MR, Snieder H, Kazmi N, Breton CV, Murphy SK, Pershagen G, Anto JM, Relton CL, Schwartz DA, Burchard EG, Huang RC, Nystad W, Almqvist C, Henderson AJ, Melén E, Duijts L, Koppelman GH, London SJ.

J Allergy Clin Immunol. 2019 Jun;143(6):2062-2074. doi: 10.1016/j.jaci.2018.11.043. Epub 2018 Dec 21.

35.

Phylogenetic and mutational analyses of human LEUTX, a homeobox gene implicated in embryogenesis.

Katayama S, Ranga V, Jouhilahti EM, Airenne TT, Johnson MS, Mukherjee K, Bürglin TR, Kere J.

Sci Rep. 2018 Nov 27;8(1):17421. doi: 10.1038/s41598-018-35547-5.

36.

FUT2 Variants Confer Susceptibility to Familial Otitis Media.

Santos-Cortez RLP, Chiong CM, Frank DN, Ryan AF, Giese APJ, Bootpetch Roberts T, Daly KA, Steritz MJ, Szeremeta W, Pedro M, Pine H, Yarza TKL, Scholes MA, Llanes EGDV, Yousaf S, Friedman N, Tantoco MLC, Wine TM, Labra PJ, Benoit J, Ruiz AG, de la Cruz RAR, Greenlee C, Yousaf A, Cardwell J, Nonato RMA, Ray D, Ong KMC, So E, Robertson CE, Dinwiddie J, Lagrana-Villagracia SM; University of Washington Center for Mendelian Genomics (UWCMG), Gubbels SP, Shaikh RS, Cass SP, Einarsdottir E, Lee NR, Schwartz DA, Gloria-Cruz TLI, Bamshad MJ, Yang IV, Kere J, Abes GT, Prager JD, Riazuddin S, Chan AL, Yoon PJ, Nickerson DA, Cutiongco-de la Paz EM, Streubel SO, Reyes-Quintos MRT, Jenkins HA, Mattila P, Chan KH, Mohlke KL, Leal SM, Hafrén L, Chonmaitree T, Sale MM, Ahmed ZM.

Am J Hum Genet. 2018 Nov 1;103(5):679-690. doi: 10.1016/j.ajhg.2018.09.010. Epub 2018 Oct 25.

37.

Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci.

Khanshour AM, Kou I, Fan Y, Einarsdottir E, Makki N, Kidane YH, Kere J, Grauers A, Johnson TA, Paria N, Patel C, Singhania R, Kamiya N, Takeda K, Otomo N, Watanabe K, Luk KDK, Cheung KMC, Herring JA, Rios JJ, Ahituv N, Gerdhem P, Gurnett CA, Song YQ, Ikegawa S, Wise CA.

Hum Mol Genet. 2018 Nov 15;27(22):3986-3998. doi: 10.1093/hmg/ddy306.

38.

Single-cell RNA-seq analysis reveals the platinum resistance gene COX7B and the surrogate marker CD63.

Tanaka N, Katayama S, Reddy A, Nishimura K, Niwa N, Hongo H, Ogihara K, Kosaka T, Mizuno R, Kikuchi E, Mikami S, Miyakawa A, Arenas E, Kere J, Oya M, Uhlén P.

Cancer Med. 2018 Dec;7(12):6193-6204. doi: 10.1002/cam4.1828. Epub 2018 Oct 26.

39.

A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis.

Kou I, Watanabe K, Takahashi Y, Momozawa Y, Khanshour A, Grauers A, Zhou H, Liu G, Fan YH, Takeda K, Ogura Y, Zhou T, Iwasaki Y, Kubo M, Wu Z, Matsumoto M; Japan Scoliosis Clinical Research Group (JSCRG); Texas Scottish Rite Hospital for Children Clinical Group (TSRHCCG), Einarsdottir E, Kere J, Huang D, Qiu G, Qiu Y, Wise CA, Song YQ, Wu N, Su P, Gerdhem P, Ikegawa S.

Sci Rep. 2018 Aug 1;8(1):11575. doi: 10.1038/s41598-018-29011-7.

40.

The Psoriasis Risk Allele HLA-C*06:02 Shows Evidence of Association with Chronic or Recurrent Streptococcal Tonsillitis.

Haapasalo K, Koskinen LLE, Suvilehto J, Jousilahti P, Wolin A, Suomela S, Trembath R, Barker J, Vuopio J, Kere J, Jokiranta TS, Saavalainen P.

Infect Immun. 2018 Sep 21;86(10). pii: e00304-18. doi: 10.1128/IAI.00304-18. Print 2018 Oct.

41.

MANF protects human pancreatic beta cells against stress-induced cell death.

Hakonen E, Chandra V, Fogarty CL, Yu NY, Ustinov J, Katayama S, Galli E, Danilova T, Lindholm P, Vartiainen A, Einarsdottir E, Krjutškov K, Kere J, Saarma M, Lindahl M, Otonkoski T.

Diabetologia. 2018 Oct;61(10):2202-2214. doi: 10.1007/s00125-018-4687-y. Epub 2018 Jul 21.

42.

Metabolic and functional changes in transgender individuals following cross-sex hormone treatment: Design and methods of the GEnder Dysphoria Treatment in Sweden (GETS) study.

Wiik A, Andersson DP, Brismar TB, Chanpen S, Dhejne C, Ekström TJ, Flanagan JN, Holmberg M, Kere J, Lilja M, Lindholm ME, Lundberg TR, Maret E, Melin M, Olsson SM, Rullman E, Wåhlén K, Arver S, Gustafsson T.

Contemp Clin Trials Commun. 2018 Apr 12;10:148-153. doi: 10.1016/j.conctc.2018.04.005. eCollection 2018 Jun.

43.

Human pluripotent reprogramming with CRISPR activators.

Weltner J, Balboa D, Katayama S, Bespalov M, Krjutškov K, Jouhilahti EM, Trokovic R, Kere J, Otonkoski T.

Nat Commun. 2018 Jul 6;9(1):2643. doi: 10.1038/s41467-018-05067-x.

44.

Intracellular signalling pathways and cytoskeletal functions converge on the psoriasis candidate gene CCHCR1 expressed at P-bodies and centrosomes.

Tervaniemi MH, Katayama S, Skoog T, Siitonen HA, Vuola J, Nuutila K, Tammimies K, Suomela S, Kankuri E, Kere J, Elomaa O.

BMC Genomics. 2018 Jun 4;19(1):432. doi: 10.1186/s12864-018-4810-y.

45.

Enrichment of rare copy number variation in children with developmental language disorder.

Kalnak N, Stamouli S, Peyrard-Janvid M, Rabkina I, Becker M, Klingberg T, Kere J, Forssberg H, Tammimies K.

Clin Genet. 2018 Oct;94(3-4):313-320. doi: 10.1111/cge.13389. Epub 2018 Jun 25.

PMID:
29851021
46.

Mlh1 deficiency in normal mouse colon mucosa associates with chromosomally unstable colon cancer.

Pussila M, Törönen P, Einarsdottir E, Katayama S, Krjutškov K, Holm L, Kere J, Peltomäki P, Mäkinen MJ, Linden J, Nyström M.

Carcinogenesis. 2018 May 28;39(6):788-797. doi: 10.1093/carcin/bgy056.

47.

An international meta-analysis confirms the association of BNC2 with adolescent idiopathic scoliosis.

Ogura Y, Takeda K, Kou I, Khanshour A, Grauers A, Zhou H, Liu G, Fan YH, Zhou T, Wu Z, Takahashi Y, Matsumoto M; Japan Scoliosis Clinical Research Group (JSCRG); Texas Scottish Rite Hospital for Children Clinical Group (TSRHCCG), Einarsdottir E, Kere J, Huang D, Qiu G, Xu L, Qiu Y, Wise CA, Song YQ, Wu N, Su P, Gerdhem P, Watanabe K, Ikegawa S.

Sci Rep. 2018 Mar 16;8(1):4730. doi: 10.1038/s41598-018-22552-x.

48.

Characterization of the human RFX transcription factor family by regulatory and target gene analysis.

Sugiaman-Trapman D, Vitezic M, Jouhilahti EM, Mathelier A, Lauter G, Misra S, Daub CO, Kere J, Swoboda P.

BMC Genomics. 2018 Mar 6;19(1):181. doi: 10.1186/s12864-018-4564-6.

49.

DNA methylation in childhood asthma: an epigenome-wide meta-analysis.

Xu CJ, Söderhäll C, Bustamante M, Baïz N, Gruzieva O, Gehring U, Mason D, Chatzi L, Basterrechea M, Llop S, Torrent M, Forastiere F, Fantini MP, Carlsen KCL, Haahtela T, Morin A, Kerkhof M, Merid SK, van Rijkom B, Jankipersadsing SA, Bonder MJ, Ballereau S, Vermeulen CJ, Aguirre-Gamboa R, de Jongste JC, Smit HA, Kumar A, Pershagen G, Guerra S, Garcia-Aymerich J, Greco D, Reinius L, McEachan RRC, Azad R, Hovland V, Mowinckel P, Alenius H, Fyhrquist N, Lemonnier N, Pellet J, Auffray C; BIOS Consortium, van der Vlies P, van Diemen CC, Li Y, Wijmenga C, Netea MG, Moffatt MF, Cookson WOCM, Anto JM, Bousquet J, Laatikainen T, Laprise C, Carlsen KH, Gori D, Porta D, Iñiguez C, Bilbao JR, Kogevinas M, Wright J, Brunekreef B, Kere J, Nawijn MC, Annesi-Maesano I, Sunyer J, Melén E, Koppelman GH.

Lancet Respir Med. 2018 May;6(5):379-388. doi: 10.1016/S2213-2600(18)30052-3. Epub 2018 Feb 26.

50.

European families reveal MHC class I and II associations with autoimmune-mediated congenital heart block.

Kyriakidis NC, Kockum I, Julkunen H, Hoxha A, Salomonsson S, Meneghel L, Ebbing C; Swedish Congenital Heart Block Study Group, Dilthey A, Eronen M, De Carolis S, Kiserud T, Ruffatti A, Kere J, Meisgen S, Wahren-Herlenius M.

Ann Rheum Dis. 2018 Sep;77(9):1381-1382. doi: 10.1136/annrheumdis-2018-212953. Epub 2018 Feb 16. No abstract available.

PMID:
29453219

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