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Author Correction: Complex genetic signatures in immune cells underlie autoimmunity and inform therapy.
Orrù V, Steri M, Sidore C, Marongiu M, Serra V, Olla S, Sole G, Lai S, Dei M, Mulas A, Virdis F, Piras MG, Lobina M, Marongiu M, Pitzalis M, Deidda F, Loizedda A, Onano S, Zoledziewska M, Sawcer S, Devoto M, Gorospe M, Abecasis GR, Floris M, Pala M, Schlessinger D, Fiorillo E, Cucca F. Orrù V, et al. Among authors: pala m. Nat Genet. 2020 Nov;52(11):1266. doi: 10.1038/s41588-020-00718-6. Nat Genet. 2020. PMID: 32948852
Complex genetic signatures in immune cells underlie autoimmunity and inform therapy.
Orrù V, Steri M, Sidore C, Marongiu M, Serra V, Olla S, Sole G, Lai S, Dei M, Mulas A, Virdis F, Piras MG, Lobina M, Marongiu M, Pitzalis M, Deidda F, Loizedda A, Onano S, Zoledziewska M, Sawcer S, Devoto M, Gorospe M, Abecasis GR, Floris M, Pala M, Schlessinger D, Fiorillo E, Cucca F. Orrù V, et al. Among authors: pala m. Nat Genet. 2020 Oct;52(10):1036-1045. doi: 10.1038/s41588-020-0684-4. Epub 2020 Sep 14. Nat Genet. 2020. PMID: 32929287 Free PMC article.
Population- and individual-specific regulatory variation in Sardinia.
Pala M, Zappala Z, Marongiu M, Li X, Davis JR, Cusano R, Crobu F, Kukurba KR, Gloudemans MJ, Reinier F, Berutti R, Piras MG, Mulas A, Zoledziewska M, Marongiu M, Sorokin EP, Hess GT, Smith KS, Busonero F, Maschio A, Steri M, Sidore C, Sanna S, Fiorillo E, Bassik MC, Sawcer SJ, Battle A, Novembre J, Jones C, Angius A, Abecasis GR, Schlessinger D, Cucca F, Montgomery SB. Pala M, et al. Nat Genet. 2017 May;49(5):700-707. doi: 10.1038/ng.3840. Epub 2017 Apr 10. Nat Genet. 2017. PMID: 28394350 Free PMC article.
Overexpression of the Cytokine BAFF and Autoimmunity Risk.
Steri M, Orrù V, Idda ML, Pitzalis M, Pala M, Zara I, Sidore C, Faà V, Floris M, Deiana M, Asunis I, Porcu E, Mulas A, Piras MG, Lobina M, Lai S, Marongiu M, Serra V, Marongiu M, Sole G, Busonero F, Maschio A, Cusano R, Cuccuru G, Deidda F, Poddie F, Farina G, Dei M, Virdis F, Olla S, Satta MA, Pani M, Delitala A, Cocco E, Frau J, Coghe G, Lorefice L, Fenu G, Ferrigno P, Ban M, Barizzone N, Leone M, Guerini FR, Piga M, Firinu D, Kockum I, Lima Bomfim I, Olsson T, Alfredsson L, Suarez A, Carreira PE, Castillo-Palma MJ, Marcus JH, Congia M, Angius A, Melis M, Gonzalez A, Alarcón Riquelme ME, da Silva BM, Marchini M, Danieli MG, Del Giacco S, Mathieu A, Pani A, Montgomery SB, Rosati G, Hillert J, Sawcer S, D'Alfonso S, Todd JA, Novembre J, Abecasis GR, Whalen MB, Marrosu MG, Meloni A, Sanna S, Gorospe M, Schlessinger D, Fiorillo E, Zoledziewska M, Cucca F. Steri M, et al. Among authors: pala m. N Engl J Med. 2017 Apr 27;376(17):1615-1626. doi: 10.1056/NEJMoa1610528. N Engl J Med. 2017. PMID: 28445677 Free PMC article.
PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity.
Sidore C, Orrù V, Cocco E, Steri M, Inshaw JR, Pitzalis M, Mulas A, McGurnaghan S, Frau J, Porcu E, Busonero F, Dei M, Lai S, Sole G, Virdis F, Serra V, Poddie F, Delitala A, Marongiu M, Deidda F, Pala M, Floris M, Masala M, Onengut-Gumuscu S, Robertson CC, Leoni L, Frongia A, Ricciardi MR, Chessa M, Olla N, Lovicu M, Loizedda A, Maschio A, Mereu L, Ferrigno P, Curreli N, Balaci L, Loi F, Ferreli LA, Pilia MG, Pani A, Marrosu MG, Abecasis GR, Rich SS, Colhoun H, Todd JA, Schlessinger D, Fiorillo E, Cucca F, Zoledziewska M. Sidore C, et al. Among authors: pala m. Mult Scler. 2021 Aug;27(9):1332-1340. doi: 10.1177/1352458520963937. Epub 2020 Oct 14. Mult Scler. 2021. PMID: 33566725 Free PMC article.
Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels.
Danjou F, Zoledziewska M, Sidore C, Steri M, Busonero F, Maschio A, Mulas A, Perseu L, Barella S, Porcu E, Pistis G, Pitzalis M, Pala M, Menzel S, Metrustry S, Spector TD, Leoni L, Angius A, Uda M, Moi P, Thein SL, Galanello R, Abecasis GR, Schlessinger D, Sanna S, Cucca F. Danjou F, et al. Among authors: pala m. Nat Genet. 2015 Nov;47(11):1264-71. doi: 10.1038/ng.3307. Epub 2015 Sep 14. Nat Genet. 2015. PMID: 26366553 Free PMC article.
A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia.
Busonero F, Steri M, Orrù V, Sole G, Olla S, Marongiu M, Maschio A, Sidore C, Lai S, Mulas A, Zoledziewska M, Floris M, Pala M, Forabosco P, Asunis I, Pitzalis M, Deidda F, Masala M, Caria CA, Barella S, Abecasis GR, Schlessinger D, Sanna S, Fiorillo E, Cucca F. Busonero F, et al. Among authors: pala m. Br J Haematol. 2020 Dec;191(5):e124-e128. doi: 10.1111/bjh.17090. Epub 2020 Nov 20. Br J Haematol. 2020. PMID: 33216977 Free PMC article. No abstract available.
Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.
Teumer A, Chaker L, Groeneweg S, Li Y, Di Munno C, Barbieri C, Schultheiss UT, Traglia M, Ahluwalia TS, Akiyama M, Appel EVR, Arking DE, Arnold A, Astrup A, Beekman M, Beilby JP, Bekaert S, Boerwinkle E, Brown SJ, De Buyzere M, Campbell PJ, Ceresini G, Cerqueira C, Cucca F, Deary IJ, Deelen J, Eckardt KU, Ekici AB, Eriksson JG, Ferrrucci L, Fiers T, Fiorillo E, Ford I, Fox CS, Fuchsberger C, Galesloot TE, Gieger C, Gögele M, De Grandi A, Grarup N, Greiser KH, Haljas K, Hansen T, Harris SE, van Heemst D, den Heijer M, Hicks AA, den Hollander W, Homuth G, Hui J, Ikram MA, Ittermann T, Jensen RA, Jing J, Jukema JW, Kajantie E, Kamatani Y, Kasbohm E, Kaufman JM, Kiemeney LA, Kloppenburg M, Kronenberg F, Kubo M, Lahti J, Lapauw B, Li S, Liewald DCM; Lifelines Cohort Study; Lim EM, Linneberg A, Marina M, Mascalzoni D, Matsuda K, Medenwald D, Meisinger C, Meulenbelt I, De Meyer T, Meyer Zu Schwabedissen HE, Mikolajczyk R, Moed M, Netea-Maier RT, Nolte IM, Okada Y, Pala M, Pattaro C, Pedersen O, Petersmann A, Porcu E, Postmus I, Pramstaller PP, Psaty BM, Ramos YFM, Rawal R, Redmond P, Richards JB, Rietzschel ER, Rivadeneira F, Roef G, Rotter JI, Sala CF, Schlessinger D, Selvin E, S… See abstract for full author list ➔ Teumer A, et al. Among authors: pala m. Nat Commun. 2018 Oct 26;9(1):4455. doi: 10.1038/s41467-018-06356-1. Nat Commun. 2018. PMID: 30367059 Free PMC article.
Genetic regulation of gene expression and splicing during a 10-year period of human aging.
Balliu B, Durrant M, Goede O, Abell N, Li X, Liu B, Gloudemans MJ, Cook NL, Smith KS, Knowles DA, Pala M, Cucca F, Schlessinger D, Jaiswal S, Sabatti C, Lind L, Ingelsson E, Montgomery SB. Balliu B, et al. Among authors: pala m. Genome Biol. 2019 Nov 4;20(1):230. doi: 10.1186/s13059-019-1840-y. Genome Biol. 2019. PMID: 31684996 Free PMC article.
313 results