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Page 1
A genome-wide association meta-analysis links hidradenitis suppurativa to common and rare sequence variants causing disruption of the Notch and Wnt/β-catenin signaling pathways.
Andersen RK, Stefansdottir L, Riis PT, Halldorsson G, Ferkingstad E, Oddsson A, Walters GB, Olafsdottir TA, Rutsdottir G, Zachariae C, Thomsen SF, Brodersen T, Dinh KM, Knowlton KU, Knight S, Nadauld LD, Banasik K, Brunak S, Hansen TF, Hjalgrim H, Sørensen E, Mikkelsen C, Ullum H, Nyegaard M, Bruun MT, Erikstrup C, Ostrowski SR, Eidsmo L, Saunte DML, Sigurgeirsson B, Orvar KB, Saemundsdottir J, Melsted P, Norddahl GL, Sulem P, Stefansson H, Holm H, Gudbjartsson D, Thorleifsson G, Jonsdottir I, Pedersen OBV, Jemec GBE, Stefansson K. Andersen RK, et al. Among authors: rutsdottir g. J Am Acad Dermatol. 2024 Dec 5:S0190-9622(24)03292-4. doi: 10.1016/j.jaad.2024.11.050. Online ahead of print. J Am Acad Dermatol. 2024. PMID: 39645042 Free article.
A partial loss-of-function variant in STAT6 protects against type 2 asthma.
Kristjansdottir K, Norddahl GL, Ivarsdottir EV, Halldorsson GH, Einarsson G, Bjarnadottir K, Rutsdottir G, Arnthorsson AO, Erikstrup C, Gudmundsdottir S, Gunnarsdottir K, Gunnbjornsdottir MI, Halldorsson BV, Holm H, Ludviksdottir D, Ludviksson BR, Brunak S, Bruun MT, Mikkelsen C, Mikkelsen S, Jensen BA, Sørensen E, Thomsen SF, Ullum H, Olafsson I, Onundarson PT, Ostrowski SR, Saevarsdottir S, Sigurdardottir O, Sigurgeirsson B, Snaebjarnarson AS, Sveinbjornsson G, Thorlacius GE, Thorleifsson G, Tragante V, Vidarsson B, Porsbjerg C, Bjornsdottir US, Sulem P, Gudbjartsson DF, Melsted P, Pedersen OB, Jonsdottir I, Olafsdottir TA, Stefansson K. Kristjansdottir K, et al. Among authors: rutsdottir g. J Allergy Clin Immunol. 2024 Oct 16:S0091-6749(24)01029-7. doi: 10.1016/j.jaci.2024.10.002. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 39423878 Free article.
Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease.
Saevarsdottir S, Bjarnadottir K, Markusson T, Berglund J, Olafsdottir TA, Halldorsson GH, Rutsdottir G, Gunnarsdottir K, Arnthorsson AO, Lund SH, Stefansdottir L, Gudmundsson J, Johannesson AJ, Sturluson A, Oddsson A, Halldorsson B, Ludviksson BR, Ferkingstad E, Ivarsdottir EV, Sveinbjornsson G, Grondal G, Masson G, Eldjarn GH, Thorisson GA, Kristjansdottir K, Knowlton KU, Moore KHS, Gudjonsson SA, Rognvaldsson S, Knight S, Nadauld LD, Holm H, Magnusson OT, Sulem P, Gudbjartsson DF, Rafnar T, Thorleifsson G, Melsted P, Norddahl GL, Jonsdottir I, Stefansson K. Saevarsdottir S, et al. Among authors: rutsdottir g. Nat Commun. 2024 Jul 9;15(1):5748. doi: 10.1038/s41467-024-50007-7. Nat Commun. 2024. PMID: 38982041 Free PMC article.
Sequence variants affecting voice pitch in humans.
Gisladottir RS, Helgason A, Halldorsson BV, Helgason H, Borsky M, Chien YR, Gudnason J, Gudjonsson SA, Moisik S, Dediu D, Thorleifsson G, Tragante V, Bustamante M, Jonsdottir GA, Stefansdottir L, Rutsdottir G, Magnusson SH, Hardarson M, Ferkingstad E, Halldorsson GH, Rognvaldsson S, Skuladottir A, Ivarsdottir EV, Norddahl G, Thorgeirsson G, Jonsdottir I, Ulfarsson MO, Holm H, Stefansson H, Thorsteinsdottir U, Gudbjartsson DF, Sulem P, Stefansson K. Gisladottir RS, et al. Among authors: rutsdottir g. Sci Adv. 2023 Jun 9;9(23):eabq2969. doi: 10.1126/sciadv.abq2969. Epub 2023 Jun 9. Sci Adv. 2023. PMID: 37294764 Free PMC article.
Genetic variants associated with syncope implicate neural and autonomic processes.
Aegisdottir HM, Thorolfsdottir RB, Sveinbjornsson G, Stefansson OA, Gunnarsson B, Tragante V, Thorleifsson G, Stefansdottir L, Thorgeirsson TE, Ferkingstad E, Sulem P, Norddahl G, Rutsdottir G, Banasik K, Christensen AH, Mikkelsen C, Pedersen OB, Brunak S, Bruun MT, Erikstrup C, Jacobsen RL, Nielsen KR, Sørensen E, Frigge ML, Hjorleifsson KE, Ivarsdottir EV, Helgadottir A, Gretarsdottir S, Steinthorsdottir V, Oddsson A, Eggertsson HP, Halldorsson GH, Jones DA, Anderson JL, Knowlton KU, Nadauld LD; DBDS Genomic Consortium; Haraldsson M, Thorgeirsson G, Bundgaard H, Arnar DO, Thorsteinsdottir U, Gudbjartsson DF, Ostrowski SR, Holm H, Stefansson K. Aegisdottir HM, et al. Among authors: rutsdottir g. Eur Heart J. 2023 Mar 21;44(12):1070-1080. doi: 10.1093/eurheartj/ehad016. Eur Heart J. 2023. PMID: 36747475
Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subset.
Saevarsdottir S, Stefansdottir L, Sulem P, Thorleifsson G, Ferkingstad E, Rutsdottir G, Glintborg B, Westerlind H, Grondal G, Loft IC, Sorensen SB, Lie BA, Brink M, Ärlestig L, Arnthorsson AO, Baecklund E, Banasik K, Bank S, Bjorkman LI, Ellingsen T, Erikstrup C, Frei O, Gjertsson I, Gudbjartsson DF, Gudjonsson SA, Halldorsson GH, Hendricks O, Hillert J, Hogdall E, Jacobsen S, Jensen DV, Jonsson H, Kastbom A, Kockum I, Kristensen S, Kristjansdottir H, Larsen MH, Linauskas A, Hauge EM, Loft AG, Ludviksson BR, Lund SH, Markusson T, Masson G, Melsted P, Moore KHS, Munk H, Nielsen KR, Norddahl GL, Oddsson A, Olafsdottir TA, Olason PI, Olsson T, Ostrowski SR, Hørslev-Petersen K, Rognvaldsson S, Sanner H, Silberberg GN, Stefansson H, Sørensen E, Sørensen IJ, Turesson C, Bergman T, Alfredsson L, Kvien TK, Brunak S, Steinsson K, Andersen V, Andreassen OA, Rantapää-Dahlqvist S, Hetland ML, Klareskog L, Askling J, Padyukov L, Pedersen OB, Thorsteinsdottir U, Jonsdottir I, Stefansson K; Members of the DBDS Genomic Consortium; Danish RA Genetics Working Group; Swedish Rheumatology Quality Register Biobank Study Group (SRQb). Saevarsdottir S, et al. Among authors: rutsdottir g. Ann Rheum Dis. 2022 Aug;81(8):1085-1095. doi: 10.1136/annrheumdis-2021-221754. Epub 2022 Apr 25. Ann Rheum Dis. 2022. PMID: 35470158 Free PMC article.
Sequence Variants in TAAR5 and Other Loci Affect Human Odor Perception and Naming.
Gisladottir RS, Ivarsdottir EV, Helgason A, Jonsson L, Hannesdottir NK, Rutsdottir G, Arnadottir GA, Skuladottir A, Jonsson BA, Norddahl GL, Ulfarsson MO, Helgason H, Halldorsson BV, Nawaz MS, Tragante V, Sveinbjornsson G, Thorgeirsson T, Oddsson A, Kristjansson RP, Bjornsdottir G, Thorgeirsson G, Jonsdottir I, Holm H, Gudbjartsson DF, Thorsteinsdottir U, Stefansson H, Sulem P, Stefansson K. Gisladottir RS, et al. Among authors: rutsdottir g. Curr Biol. 2020 Dec 7;30(23):4643-4653.e3. doi: 10.1016/j.cub.2020.09.012. Epub 2020 Oct 8. Curr Biol. 2020. PMID: 33035477 Free article.
15 results