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Page 1
Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8.
Ferrada E, Wiedmer T, Wang WA, Frommelt F, Steurer B, Klimek C, Lindinger S, Osthushenrich T, Garofoli A, Brocchetti S, Bradberry S, Huang J, MacNamara A, Scarabottolo L, Ecker GF, Malarstig A, Superti-Furga G. Ferrada E, et al. Among authors: malarstig a. J Mol Biol. 2024 Jan 15;436(2):168383. doi: 10.1016/j.jmb.2023.168383. Epub 2023 Dec 7. J Mol Biol. 2024. PMID: 38070861 Free article.
Genome-wide association study of varenicline-aided smoking cessation.
Coley K, Wang Q, Packer R, John C, Abner E, Reis K; Estonian Biobank Research Team; Bedair KF, Srinivasan S, Paciga S, Hyde C, Free RC, Reeve NF, Shepherd DJ, Esko T, Palmer C, Pearson E, Malarstig A, Tobin MD, Batini C. Coley K, et al. Among authors: malarstig a. Nicotine Tob Res. 2025 Jan 10:ntaf009. doi: 10.1093/ntr/ntaf009. Online ahead of print. Nicotine Tob Res. 2025. PMID: 39792440
Genome-wide association study of anterior uveitis.
Koskimäki F, Ahokas O, Kajanne R, Saviauk KR, Elnahas A, Reigo A, Reis K, Esko T, Palta P, Leinonen S, Kettunen J, Liinamaa J, Karjalainen MK, Saarela V; Estonian Biobank Research Team Consortium; FinnGen Consortium; Estonian Biobank Research Team Consortium authors. Koskimäki F, et al. Br J Ophthalmol. 2024 Dec 27:bjo-2024-326037. doi: 10.1136/bjo-2024-326037. Online ahead of print. Br J Ophthalmol. 2024. PMID: 39732499
Novel loci and biomedical consequences of iron homoeostasis variation.
Allara E, Bell S, Smith R, Keene SJ, Gill D, Gaziano L, Morselli Gysi D, Wang F, Tragante V, Mason A, Karthikeyan S, Lumbers RT, Bonglack E, Ouwehand W, Roberts DJ, Dowsett J, Ostrowski SR, Larsen MH, Ullum H, Pedersen OB, Brunak S, Banasik K, Erikstrup C; DBDS Genomic Consortium; Mitchell J, Fuchsberger C, Pattaro C, Pramstaller PP, Girelli D, Arvas M, Toivonen J, Molnos S, Peters A, Polasek O, Rudan I, Hayward C, McDonnell C, Pirastu N, Wilson JF, van den Hurk K, Quee F, Ferrucci L, Bandinelli S, Tanaka T, Girotto G, Concas MP, Pecori A, Verweij N, van der Harst P, van de Vegte YJ, Kiemeney LA, Sweep FC, Galesloot TE, Sulem P, Gudbjartsson D, Ferkingstad E; FinnGen Consortium; Djousse L, Cho K, Inouye M, Burgess S, Benyamin B, Oexle K, Swinkels D, Stefansson K, Magnusson M, Ganna A, Gaziano M, Ivey K, Danesh J, Pereira A, Wood AM, Butterworth AS, Di Angelantonio E. Allara E, et al. Commun Biol. 2024 Dec 6;7(1):1631. doi: 10.1038/s42003-024-07115-3. Commun Biol. 2024. PMID: 39643614 Free PMC article.
Genetic susceptibility to acute viral bronchiolitis.
Pasanen A, Karjalainen MK, Korppi M, Hallman M, Rämet M; Research Project FinnGen. Pasanen A, et al. J Infect Dis. 2024 Sep 20:jiae467. doi: 10.1093/infdis/jiae467. Online ahead of print. J Infect Dis. 2024. PMID: 39299705
The genetic landscape of neuro-related proteins in human plasma.
Repetto L, Chen J, Yang Z, Zhai R, Timmers PRHJ, Feng X, Li T, Yao Y, Maslov D, Timoshchuk A, Tu F, Twait EL, May-Wilson S, Muckian MD, Prins BP, Png G, Kooperberg C, Johansson Å, Hillary RF, Wheeler E, Pan L, He Y, Klasson S, Ahmad S, Peters JE, Gilly A, Karaleftheri M, Tsafantakis E, Haessler J, Gyllensten U, Harris SE, Wareham NJ, Göteson A, Lagging C, Ikram MA, van Duijn CM, Jern C, Landén M, Langenberg C, Deary IJ, Marioni RE, Enroth S, Reiner AP, Dedoussis G, Zeggini E, Sharapov S, Aulchenko YS, Butterworth AS, Mälarstig A, Wilson JF, Navarro P, Shen X. Repetto L, et al. Among authors: malarstig a. Nat Hum Behav. 2024 Nov;8(11):2222-2234. doi: 10.1038/s41562-024-01963-z. Epub 2024 Aug 29. Nat Hum Behav. 2024. PMID: 39210026
Identifying proteomic risk factors for overall, aggressive, and early onset prostate cancer using Mendelian Randomisation and tumour spatial transcriptomics.
Desai TA, Hedman ÅK, Dimitriou M, Koprulu M, Figiel S, Yin W, Johansson M, Watts EL, Atkins JR, Sokolov AV, Schiöth HB, Gunter MJ, Tsilidis KK, Martin RM, Pietzner M, Langenberg C, Mills IG, Lamb AD, Mälarstig A, Key TJ; PRACTICAL Consortium; Travis RC, Smith-Byrne K. Desai TA, et al. Among authors: malarstig a. EBioMedicine. 2024 Jul;105:105168. doi: 10.1016/j.ebiom.2024.105168. Epub 2024 Jun 14. EBioMedicine. 2024. PMID: 38878676 Free PMC article.
TWINGEN: protocol for an observational clinical biobank recall and biomarker cohort study to identify Finnish individuals with high risk of Alzheimer's disease.
Vuoksimaa E, Saari TT, Aaltonen A, Aaltonen S, Herukka SK, Iso-Markku P, Kokkola T, Kyttälä A, Kärkkäinen S, Liedes H, Ollikainen M, Palviainen T, Ruotsalainen I, Toivola A, Urjansson M, Vasankari T, Vähä-Ypyä H, Forsberg MM, Hiltunen M, Jalanko A, Kälviäinen R, Kuopio T, Lähteenmäki J, Nyberg P, Männikkö M, Serpi R, Siltanen S, Palotie A, Kaprio J, Runz H, Julkunen V; FinnGen. Vuoksimaa E, et al. BMJ Open. 2024 Jun 12;14(6):e081947. doi: 10.1136/bmjopen-2023-081947. BMJ Open. 2024. PMID: 38866570 Free PMC article.
124 results