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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: cao a. 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.
DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease.
Lettre G, Sankaran VG, Bezerra MA, Araújo AS, Uda M, Sanna S, Cao A, Schlessinger D, Costa FF, Hirschhorn JN, Orkin SH. Lettre G, et al. Among authors: cao a. Proc Natl Acad Sci U S A. 2008 Aug 19;105(33):11869-74. doi: 10.1073/pnas.0804799105. Epub 2008 Jul 30. Proc Natl Acad Sci U S A. 2008. PMID: 18667698 Free PMC article.
Amelioration of Sardinian beta0 thalassemia by genetic modifiers.
Galanello R, Sanna S, Perseu L, Sollaino MC, Satta S, Lai ME, Barella S, Uda M, Usala G, Abecasis GR, Cao A. Galanello R, et al. Among authors: cao a. Blood. 2009 Oct 29;114(18):3935-7. doi: 10.1182/blood-2009-04-217901. Epub 2009 Aug 20. Blood. 2009. PMID: 19696200 Free PMC article.
Beta-thalassemia.
Cao A, Galanello R. Cao A, et al. Genet Med. 2010 Feb;12(2):61-76. doi: 10.1097/GIM.0b013e3181cd68ed. Genet Med. 2010. PMID: 20098328 Free article. Review.
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: cao a. 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.
Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits.
Scuteri A, Sanna S, Chen WM, Uda M, Albai G, Strait J, Najjar S, Nagaraja R, Orrú M, Usala G, Dei M, Lai S, Maschio A, Busonero F, Mulas A, Ehret GB, Fink AA, Weder AB, Cooper RS, Galan P, Chakravarti A, Schlessinger D, Cao A, Lakatta E, Abecasis GR. Scuteri A, et al. Among authors: cao a. PLoS Genet. 2007 Jul;3(7):e115. doi: 10.1371/journal.pgen.0030115. PLoS Genet. 2007. PMID: 17658951 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: cao a. PLoS Genet. 2007 Nov;3(11):e194. doi: 10.1371/journal.pgen.0030194. PLoS Genet. 2007. PMID: 17997608 Free PMC article.
1,697 results