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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: crisponi l. 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.
IRAK-M is involved in the pathogenesis of early-onset persistent asthma.
Balaci L, Spada MC, Olla N, Sole G, Loddo L, Anedda F, Naitza S, Zuncheddu MA, Maschio A, Altea D, Uda M, Pilia S, Sanna S, Masala M, Crisponi L, Fattori M, Devoto M, Doratiotto S, Rassu S, Mereu S, Giua E, Cadeddu NG, Atzeni R, Pelosi U, Corrias A, Perra R, Torrazza PL, Pirina P, Ginesu F, Marcias S, Schintu MG, Del Giacco GS, Manconi PE, Malerba G, Bisognin A, Trabetti E, Boner A, Pescollderungg L, Pignatti PF, Schlessinger D, Cao A, Pilia G. Balaci L, et al. Among authors: crisponi l. Am J Hum Genet. 2007 Jun;80(6):1103-14. doi: 10.1086/518259. Epub 2007 Apr 27. Am J Hum Genet. 2007. PMID: 17503328 Free PMC article.
The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts.
Li S, Sanna S, Maschio A, Busonero F, Usala G, Mulas A, Lai S, Dei M, Orrù M, Albai G, Bandinelli S, Schlessinger D, Lakatta E, Scuteri A, Najjar SS, Guralnik J, Naitza S, Crisponi L, Cao A, Abecasis G, Ferrucci L, Uda M, Chen WM, Nagaraja R. Li S, et al. Among authors: crisponi l. PLoS Genet. 2007 Nov;3(11):e194. doi: 10.1371/journal.pgen.0030194. PLoS Genet. 2007. PMID: 17997608 Free PMC article.
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.
Sanna S, Busonero F, Maschio A, McArdle PF, Usala G, Dei M, Lai S, Mulas A, Piras MG, Perseu L, Masala M, Marongiu M, Crisponi L, Naitza S, Galanello R, Abecasis GR, Shuldiner AR, Schlessinger D, Cao A, Uda M. Sanna S, et al. Among authors: crisponi l. Hum Mol Genet. 2009 Jul 15;18(14):2711-8. doi: 10.1093/hmg/ddp203. Epub 2009 May 6. Hum Mol Genet. 2009. PMID: 19419973 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: crisponi l. 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.
Genome-wide association study of susceptibility loci for breast cancer in Sardinian population.
Palomba G, Loi A, Porcu E, Cossu A, Zara I, Budroni M, Dei M, Lai S, Mulas A, Olmeo N, Ionta MT, Atzori F, Cuccuru G, Pitzalis M, Zoledziewska M, Olla N, Lovicu M, Pisano M, Abecasis GR, Uda M, Tanda F, Michailidou K, Easton DF, Chanock SJ, Hoover RN, Hunter DJ, Schlessinger D, Sanna S, Crisponi L, Palmieri G. Palomba G, et al. Among authors: crisponi l. BMC Cancer. 2015 May 10;15:383. doi: 10.1186/s12885-015-1392-9. BMC Cancer. 2015. PMID: 25956309 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: crisponi l. 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.
Genetics of serum BDNF: meta-analysis of the Val66Met and genome-wide association study.
Terracciano A, Piras MG, Lobina M, Mulas A, Meirelles O, Sutin AR, Chan W, Sanna S, Uda M, Crisponi L, Schlessinger D. Terracciano A, et al. Among authors: crisponi l. World J Biol Psychiatry. 2013 Dec;14(8):583-9. doi: 10.3109/15622975.2011.616533. Epub 2011 Nov 2. World J Biol Psychiatry. 2013. PMID: 22047184 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: crisponi l. 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.
80 results