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Page 1
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: lai s. 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.
Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.
Sanna S, Pitzalis M, Zoledziewska M, Zara I, Sidore C, Murru R, Whalen MB, Busonero F, Maschio A, Costa G, Melis MC, Deidda F, Poddie F, Morelli L, Farina G, Li Y, Dei M, Lai S, Mulas A, Cuccuru G, Porcu E, Liang L, Zavattari P, Moi L, Deriu E, Urru MF, Bajorek M, Satta MA, Cocco E, Ferrigno P, Sotgiu S, Pugliatti M, Traccis S, Angius A, Melis M, Rosati G, Abecasis GR, Uda M, Marrosu MG, Schlessinger D, Cucca F. Sanna S, et al. Among authors: lai s. Nat Genet. 2010 Jun;42(6):495-7. doi: 10.1038/ng.584. Epub 2010 May 9. Nat Genet. 2010. PMID: 20453840 Free PMC article.
A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.
Naitza S, Porcu E, Steri M, Taub DD, Mulas A, Xiao X, Strait J, Dei M, Lai S, Busonero F, Maschio A, Usala G, Zoledziewska M, Sidore C, Zara I, Pitzalis M, Loi A, Virdis F, Piras R, Deidda F, Whalen MB, Crisponi L, Concas A, Podda C, Uzzau S, Scheet P, Longo DL, Lakatta E, Abecasis GR, Cao A, Schlessinger D, Uda M, Sanna S, Cucca F. Naitza S, et al. Among authors: lai s. PLoS Genet. 2012 Jan;8(1):e1002480. doi: 10.1371/journal.pgen.1002480. Epub 2012 Jan 26. PLoS Genet. 2012. PMID: 22291609 Free PMC article.
Genetic variants regulating immune cell levels in health and disease.
Orrù V, Steri M, Sole G, Sidore C, Virdis F, Dei M, Lai S, Zoledziewska M, Busonero F, Mulas A, Floris M, Mentzen WI, Urru SA, Olla S, Marongiu M, Piras MG, Lobina M, Maschio A, Pitzalis M, Urru MF, Marcelli M, Cusano R, Deidda F, Serra V, Oppo M, Pilu R, Reinier F, Berutti R, Pireddu L, Zara I, Porcu E, Kwong A, Brennan C, Tarrier B, Lyons R, Kang HM, Uzzau S, Atzeni R, Valentini M, Firinu D, Leoni L, Rotta G, Naitza S, Angius A, Congia M, Whalen MB, Jones CM, Schlessinger D, Abecasis GR, Fiorillo E, Sanna S, Cucca F. Orrù V, et al. Among authors: lai s. Cell. 2013 Sep 26;155(1):242-56. doi: 10.1016/j.cell.2013.08.041. Cell. 2013. PMID: 24074872 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: lai s. 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.
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: lai s. Nat Genet. 2020 Nov;52(11):1266. doi: 10.1038/s41588-020-00718-6. Nat Genet. 2020. PMID: 32948852
Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs.
Pistis G, Porcu E, Vrieze SI, Sidore C, Steri M, Danjou F, Busonero F, Mulas A, Zoledziewska M, Maschio A, Brennan C, Lai S, Miller MB, Marcelli M, Urru MF, Pitzalis M, Lyons RH, Kang HM, Jones CM, Angius A, Iacono WG, Schlessinger D, McGue M, Cucca F, Abecasis GR, Sanna S. Pistis G, et al. Among authors: lai s. Eur J Hum Genet. 2015 Jul;23(7):975-83. doi: 10.1038/ejhg.2014.216. Epub 2014 Oct 8. Eur J Hum Genet. 2015. PMID: 25293720 Free PMC article.
Common variants in the GDF5-UQCC region are associated with variation in human height.
Sanna S, Jackson AU, Nagaraja R, Willer CJ, Chen WM, Bonnycastle LL, Shen H, Timpson N, Lettre G, Usala G, Chines PS, Stringham HM, Scott LJ, Dei M, Lai S, Albai G, Crisponi L, Naitza S, Doheny KF, Pugh EW, Ben-Shlomo Y, Ebrahim S, Lawlor DA, Bergman RN, Watanabe RM, Uda M, Tuomilehto J, Coresh J, Hirschhorn JN, Shuldiner AR, Schlessinger D, Collins FS, Davey Smith G, Boerwinkle E, Cao A, Boehnke M, Abecasis GR, Mohlke KL. Sanna S, et al. Among authors: lai s. Nat Genet. 2008 Feb;40(2):198-203. doi: 10.1038/ng.74. Epub 2008 Jan 13. Nat Genet. 2008. PMID: 18193045 Free PMC article.
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.
Uda M, Galanello R, Sanna S, Lettre G, Sankaran VG, Chen W, Usala G, Busonero F, Maschio A, Albai G, Piras MG, Sestu N, Lai S, Dei M, Mulas A, Crisponi L, Naitza S, Asunis I, Deiana M, Nagaraja R, Perseu L, Satta S, Cipollina MD, Sollaino C, Moi P, Hirschhorn JN, Orkin SH, Abecasis GR, Schlessinger D, Cao A. Uda M, et al. Among authors: lai s. Proc Natl Acad Sci U S A. 2008 Feb 5;105(5):1620-5. doi: 10.1073/pnas.0711566105. Epub 2008 Feb 1. Proc Natl Acad Sci U S A. 2008. PMID: 18245381 Free PMC article.
Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function.
Arnaud-Lopez L, Usala G, Ceresini G, Mitchell BD, Pilia MG, Piras MG, Sestu N, Maschio A, Busonero F, Albai G, Dei M, Lai S, Mulas A, Crisponi L, Tanaka T, Bandinelli S, Guralnik JM, Loi A, Balaci L, Sole G, Prinzis A, Mariotti S, Shuldiner AR, Cao A, Schlessinger D, Uda M, Abecasis GR, Nagaraja R, Sanna S, Naitza S. Arnaud-Lopez L, et al. Among authors: lai s. Am J Hum Genet. 2008 Jun;82(6):1270-80. doi: 10.1016/j.ajhg.2008.04.019. Am J Hum Genet. 2008. PMID: 18514160 Free PMC article.
5,102 results