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Page 1
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: usala g. 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.
Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability.
Sanna S, Li B, Mulas A, Sidore C, Kang HM, Jackson AU, Piras MG, Usala G, Maninchedda G, Sassu A, Serra F, Palmas MA, Wood WH 3rd, Njølstad I, Laakso M, Hveem K, Tuomilehto J, Lakka TA, Rauramaa R, Boehnke M, Cucca F, Uda M, Schlessinger D, Nagaraja R, Abecasis GR. Sanna S, et al. Among authors: usala g. PLoS Genet. 2011 Jul;7(7):e1002198. doi: 10.1371/journal.pgen.1002198. Epub 2011 Jul 28. PLoS Genet. 2011. PMID: 21829380 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: usala g. 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.
Heritability of cardiovascular and personality traits in 6,148 Sardinians.
Pilia G, Chen WM, Scuteri A, Orrú M, Albai G, Dei M, Lai S, Usala G, Lai M, Loi P, Mameli C, Vacca L, Deiana M, Olla N, Masala M, Cao A, Najjar SS, Terracciano A, Nedorezov T, Sharov A, Zonderman AB, Abecasis GR, Costa P, Lakatta E, Schlessinger D. Pilia G, et al. Among authors: usala g. PLoS Genet. 2006 Aug 25;2(8):e132. doi: 10.1371/journal.pgen.0020132. Epub 2006 Jul 10. PLoS Genet. 2006. PMID: 16934002 Free PMC article.
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.
Crisponi L, Crisponi G, Meloni A, Toliat MR, Nurnberg G, Usala G, Uda M, Masala M, Hohne W, Becker C, Marongiu M, Chiappe F, Kleta R, Rauch A, Wollnik B, Strasser F, Reese T, Jakobs C, Kurlemann G, Cao A, Nurnberg P, Rutsch F. Crisponi L, et al. Among authors: usala g. Am J Hum Genet. 2007 May;80(5):971-81. doi: 10.1086/516843. Epub 2007 Mar 30. Am J Hum Genet. 2007. PMID: 17436252 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: usala g. PLoS Genet. 2007 Jul;3(7):e115. doi: 10.1371/journal.pgen.0030115. PLoS Genet. 2007. PMID: 17658951 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: usala g. 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: usala g. 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.
Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations.
Tanaka T, Scheet P, Giusti B, Bandinelli S, Piras MG, Usala G, Lai S, Mulas A, Corsi AM, Vestrini A, Sofi F, Gori AM, Abbate R, Guralnik J, Singleton A, Abecasis GR, Schlessinger D, Uda M, Ferrucci L. Tanaka T, et al. Among authors: usala g. Am J Hum Genet. 2009 Apr;84(4):477-82. doi: 10.1016/j.ajhg.2009.02.011. Epub 2009 Mar 19. Am J Hum Genet. 2009. PMID: 19303062 Free PMC article.
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
Porcu E, Medici M, Pistis G, Volpato CB, Wilson SG, Cappola AR, Bos SD, Deelen J, den Heijer M, Freathy RM, Lahti J, Liu C, Lopez LM, Nolte IM, O'Connell JR, Tanaka T, Trompet S, Arnold A, Bandinelli S, Beekman M, Böhringer S, Brown SJ, Buckley BM, Camaschella C, de Craen AJ, Davies G, de Visser MC, Ford I, Forsen T, Frayling TM, Fugazzola L, Gögele M, Hattersley AT, Hermus AR, Hofman A, Houwing-Duistermaat JJ, Jensen RA, Kajantie E, Kloppenburg M, Lim EM, Masciullo C, Mariotti S, Minelli C, Mitchell BD, Nagaraja R, Netea-Maier RT, Palotie A, Persani L, Piras MG, Psaty BM, Räikkönen K, Richards JB, Rivadeneira F, Sala C, Sabra MM, Sattar N, Shields BM, Soranzo N, Starr JM, Stott DJ, Sweep FC, Usala G, van der Klauw MM, van Heemst D, van Mullem A, Vermeulen SH, Visser WE, Walsh JP, Westendorp RG, Widen E, Zhai G, Cucca F, Deary IJ, Eriksson JG, Ferrucci L, Fox CS, Jukema JW, Kiemeney LA, Pramstaller PP, Schlessinger D, Shuldiner AR, Slagboom EP, Uitterlinden AG, Vaidya B, Visser TJ, Wolffenbuttel BH, Meulenbelt I, Rotter JI, Spector TD, Hicks AA, Toniolo D, Sanna S, Peeters RP, Naitza S. Porcu E, et al. Among authors: usala g. PLoS Genet. 2013;9(2):e1003266. doi: 10.1371/journal.pgen.1003266. Epub 2013 Feb 7. PLoS Genet. 2013. PMID: 23408906 Free PMC article.
24 results