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Page 1
Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease.
Lundtoft C, Eriksson D, Bianchi M, Aranda-Guillén M, Landegren N, Rantapää-Dahlqvist S, Söderkvist P, Meadows JRS; DISSECT Consortium; ImmunoArray Consortium; Swedish Addison Registry Study Group; Bensing S, Pielberg GR, Lindblad-Toh K, Rönnblom L, Kämpe O. Lundtoft C, et al. Eur J Endocrinol. 2023 Aug 2;189(2):235-241. doi: 10.1093/ejendo/lvad102. Eur J Endocrinol. 2023. PMID: 37553728 Free article.
Genetic and clinical basis for two distinct subtypes of primary Sjögren's syndrome.
Thorlacius GE, Hultin-Rosenberg L, Sandling JK, Bianchi M, Imgenberg-Kreuz J, Pucholt P, Theander E, Kvarnström M, Forsblad-d'Elia H, Bucher SM, Norheim KB, Johnsen SJA, Hammenfors D, Skarstein K, Jonsson MV, Baecklund E, Aqrawi LA, Jensen JL, Palm Ø, Morris AP; DISSECT consortium; the ImmunoArray consortium; Meadows JRS, Rantapää-Dahlqvist S, Mandl T, Eriksson P, Lind L, Omdal R, Jonsson R, Lindblad-Toh K, Rönnblom L, Wahren-Herlenius M, Nordmark G. Thorlacius GE, et al. Rheumatology (Oxford). 2021 Feb 1;60(2):837-848. doi: 10.1093/rheumatology/keaa367. Rheumatology (Oxford). 2021. PMID: 32889544 Free PMC article.
Mer-tyrosine kinase: a novel susceptibility gene for SLE related end-stage renal disease.
Yavuz S, Pucholt P, Sandling JK, Bianchi M, Leonard D, Bolin K, Imgenberg-Kreuz J, Eloranta ML, Kozyrev SV, Lanata CM, Jönsen A, Bengtsson AA, Sjöwall C, Svenungsson E, Gunnarsson I, Rantapää-Dahlqvist S; ImmunoArray Development Consortium; DISSECT Consortium; Nititham J, Criswell LA, Lindblad-Toh K, Rönnblom L. Yavuz S, et al. Lupus Sci Med. 2022 Nov;9(1):e000752. doi: 10.1136/lupus-2022-000752. Lupus Sci Med. 2022. PMID: 36332927 Free PMC article.
Stratified genetic analysis reveals sex differences in MPO-ANCA-associated vasculitis.
Ekman D, Sennblad B, Knight A, Karlsson Å, Rantapää-Dahlqvist S, Berglin E, Stegmayr B, Baslund B, Palm Ø, Haukeland H, Gunnarsson I, Bruchfeld A, Segelmark M, Ohlsson S, Mohammad AJ, Svärd A, Pullerits R, Herlitz H, Söderbergh A, Omdal R, Jonsson R, Rönnblom L, Eriksson P, Lindblad-Toh K, Dahlqvist J. Ekman D, et al. Rheumatology (Oxford). 2023 Sep 1;62(9):3213-3218. doi: 10.1093/rheumatology/kead152. Rheumatology (Oxford). 2023. PMID: 37004177 Free PMC article.
Mutations in the CYP27B1 gene cause vitamin D dependent rickets in pugs.
Rohdin C, Wang C, Brander G, Rondahl V, Karlsson Å, Friling L, Fischetti A, Meadows J, Häggström J, Jäderlund KH, Ljungvall I, Lindblad-Toh K. Rohdin C, et al. J Vet Intern Med. 2023 Jul-Aug;37(4):1507-1513. doi: 10.1111/jvim.16791. Epub 2023 Jun 9. J Vet Intern Med. 2023. PMID: 37293695 Free PMC article.
Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies.
Leclair V, Galindo-Feria AS, Rothwell S, Kryštůfková O, Zargar SS, Mann H, Diederichsen LP, Andersson H, Klein M, Tansley S, Rönnblom L, Lindblad-Toh K, Syvänen AC, Wahren-Herlenius M, Sandling JK; Dissect Consortium and The Immunoarray Development Consortium; McHugh N, Lamb JA, Vencovský J, Chinoy H, Holmqvist M, Bianchi M, Padyukov L, Lundberg IE, Diaz-Gallo LM. Leclair V, et al. EBioMedicine. 2023 Oct;96:104804. doi: 10.1016/j.ebiom.2023.104804. Epub 2023 Sep 26. EBioMedicine. 2023. PMID: 37769433 Free PMC article.
The functional and evolutionary impacts of human-specific deletions in conserved elements.
Xue JR, Mackay-Smith A, Mouri K, Garcia MF, Dong MX, Akers JF, Noble M, Li X; Zoonomia Consortium†; Lindblad-Toh K, Karlsson EK, Noonan JP, Capellini TD, Brennand KJ, Tewhey R, Sabeti PC, Reilly SK. Xue JR, et al. Science. 2023 Apr 28;380(6643):eabn2253. doi: 10.1126/science.abn2253. Epub 2023 Apr 28. Science. 2023. PMID: 37104592 Free PMC article.
Evolutionary constraint and innovation across hundreds of placental mammals.
Christmas MJ, Kaplow IM, Genereux DP, Dong MX, Hughes GM, Li X, Sullivan PF, Hindle AG, Andrews G, Armstrong JC, Bianchi M, Breit AM, Diekhans M, Fanter C, Foley NM, Goodman DB, Goodman L, Keough KC, Kirilenko B, Kowalczyk A, Lawless C, Lind AL, Meadows JRS, Moreira LR, Redlich RW, Ryan L, Swofford R, Valenzuela A, Wagner F, Wallerman O, Brown AR, Damas J, Fan K, Gatesy J, Grimshaw J, Johnson J, Kozyrev SV, Lawler AJ, Marinescu VD, Morrill KM, Osmanski A, Paulat NS, Phan BN, Reilly SK, Schäffer DE, Steiner C, Supple MA, Wilder AP, Wirthlin ME, Xue JR; Zoonomia Consortium§; Birren BW, Gazal S, Hubley RM, Koepfli KP, Marques-Bonet T, Meyer WK, Nweeia M, Sabeti PC, Shapiro B, Smit AFA, Springer MS, Teeling EC, Weng Z, Hiller M, Levesque DL, Lewin HA, Murphy WJ, Navarro A, Paten B, Pollard KS, Ray DA, Ruf I, Ryder OA, Pfenning AR, Lindblad-Toh K, Karlsson EK. Christmas MJ, et al. Science. 2023 Apr 28;380(6643):eabn3943. doi: 10.1126/science.abn3943. Epub 2023 Apr 28. Science. 2023. PMID: 37104599 Free PMC article.
Relating enhancer genetic variation across mammals to complex phenotypes using machine learning.
Kaplow IM, Lawler AJ, Schäffer DE, Srinivasan C, Sestili HH, Wirthlin ME, Phan BN, Prasad K, Brown AR, Zhang X, Foley K, Genereux DP; Zoonomia Consortium**; Karlsson EK, Lindblad-Toh K, Meyer WK, Pfenning AR. Kaplow IM, et al. Science. 2023 Apr 28;380(6643):eabm7993. doi: 10.1126/science.abm7993. Epub 2023 Apr 28. Science. 2023. PMID: 37104615 Free PMC article.
257 results