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Page 1
A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients.
Crovella S, Segat L, Amato A, Athanasakis E, Bezzerri V, Braggion C, Casciaro R, Castaldo G, Colombo C, Covone AE, De Rose V, Gagliardini R, Lanzara C, Minicucci L, Morgutti M, Nicolis E, Pardo F, Quattrucci S, Raia V, Ravazzolo R, Seia M, Stanzial V, Termini L, Zazzeron L, Cabrini G, Gasparini P. Crovella S, et al. Among authors: gasparini p. Clin Chem Lab Med. 2011 Jan;49(1):49-54. doi: 10.1515/CCLM.2011.023. Epub 2010 Nov 16. Clin Chem Lab Med. 2011. PMID: 21077791
Phospholipase C-β3 is a key modulator of IL-8 expression in cystic fibrosis bronchial epithelial cells.
Bezzerri V, d'Adamo P, Rimessi A, Lanzara C, Crovella S, Nicolis E, Tamanini A, Athanasakis E, Tebon M, Bisoffi G, Drumm ML, Knowles MR, Pinton P, Gasparini P, Berton G, Cabrini G. Bezzerri V, et al. Among authors: gasparini p. J Immunol. 2011 Apr 15;186(8):4946-58. doi: 10.4049/jimmunol.1003535. Epub 2011 Mar 16. J Immunol. 2011. PMID: 21411730 Free PMC article.
Genetics of food preferences: a first view from silk road populations.
Pirastu N, Robino A, Lanzara C, Athanasakis E, Esposito L, Tepper BJ, Gasparini P. Pirastu N, et al. Among authors: gasparini p. J Food Sci. 2012 Dec;77(12):S413-8. doi: 10.1111/j.1750-3841.2012.02852.x. Epub 2012 Aug 13. J Food Sci. 2012. PMID: 22888812
Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function.
Chasman DI, Fuchsberger C, Pattaro C, Teumer A, Böger CA, Endlich K, Olden M, Chen MH, Tin A, Taliun D, Li M, Gao X, Gorski M, Yang Q, Hundertmark C, Foster MC, O'Seaghdha CM, Glazer N, Isaacs A, Liu CT, Smith AV, O'Connell JR, Struchalin M, Tanaka T, Li G, Johnson AD, Gierman HJ, Feitosa MF, Hwang SJ, Atkinson EJ, Lohman K, Cornelis MC, Johansson A, Tönjes A, Dehghan A, Lambert JC, Holliday EG, Sorice R, Kutalik Z, Lehtimäki T, Esko T, Deshmukh H, Ulivi S, Chu AY, Murgia F, Trompet S, Imboden M, Coassin S, Pistis G; CARDIoGRAM Consortium; ICBP Consortium; CARe Consortium; WTCCC2; Harris TB, Launer LJ, Aspelund T, Eiriksdottir G, Mitchell BD, Boerwinkle E, Schmidt H, Cavalieri M, Rao M, Hu F, Demirkan A, Oostra BA, de Andrade M, Turner ST, Ding J, Andrews JS, Freedman BI, Giulianini F, Koenig W, Illig T, Meisinger C, Gieger C, Zgaga L, Zemunik T, Boban M, Minelli C, Wheeler HE, Igl W, Zaboli G, Wild SH, Wright AF, Campbell H, Ellinghaus D, Nöthlings U, Jacobs G, Biffar R, Ernst F, Homuth G, Kroemer HK, Nauck M, Stracke S, Völker U, Völzke H, Kovacs P, Stumvoll M, Mägi R, Hofman A, Uitterlinden AG, Rivadeneira F, Aulchenko YS, Polasek O, Hastie N, Vitart V, Helmer C, Wang JJ, Steng… See abstract for full author list ➔ Chasman DI, et al. Among authors: gasparini p. Hum Mol Genet. 2012 Dec 15;21(24):5329-43. doi: 10.1093/hmg/dds369. Epub 2012 Sep 8. Hum Mol Genet. 2012. PMID: 22962313 Free PMC article.
Common variants in Mendelian kidney disease genes and their association with renal function.
Parsa A, Fuchsberger C, Köttgen A, O'Seaghdha CM, Pattaro C, de Andrade M, Chasman DI, Teumer A, Endlich K, Olden M, Chen MH, Tin A, Kim YJ, Taliun D, Li M, Feitosa M, Gorski M, Yang Q, Hundertmark C, Foster MC, Glazer N, Isaacs A, Rao M, Smith AV, O'Connell JR, Struchalin M, Tanaka T, Li G, Hwang SJ, Atkinson EJ, Lohman K, Cornelis MC, Johansson A, Tönjes A, Dehghan A, Couraki V, Holliday EG, Sorice R, Kutalik Z, Lehtimäki T, Esko T, Deshmukh H, Ulivi S, Chu AY, Murgia F, Trompet S, Imboden M, Kollerits B, Pistis G, Harris TB, Launer LJ, Aspelund T, Eiriksdottir G, Mitchell BD, Boerwinkle E, Schmidt H, Hofer E, Hu F, Demirkan A, Oostra BA, Turner ST, Ding J, Andrews JS, Freedman BI, Giulianini F, Koenig W, Illig T, Döring A, Wichmann HE, Zgaga L, Zemunik T, Boban M, Minelli C, Wheeler HE, Igl W, Zaboli G, Wild SH, Wright AF, Campbell H, Ellinghaus D, Nöthlings U, Jacobs G, Biffar R, Ernst F, Homuth G, Kroemer HK, Nauck M, Stracke S, Völker U, Völzke H, Kovacs P, Stumvoll M, Mägi R, Hofman A, Uitterlinden AG, Rivadeneira F, Aulchenko YS, Polasek O, Hastie N, Vitart V, Helmer C, Wang JJ, Stengel B, Ruggiero D, Bergmann S, Kähönen M, Viikari J, Nikopensius T, Province M, Colhoun H, … See abstract for full author list ➔ Parsa A, et al. Among authors: gasparini p. J Am Soc Nephrol. 2013 Dec;24(12):2105-17. doi: 10.1681/ASN.2012100983. Epub 2013 Sep 12. J Am Soc Nephrol. 2013. PMID: 24029420 Free PMC article.
DNA mismatch repair gene MSH6 implicated in determining age at natural menopause.
Perry JR, Hsu YH, Chasman DI, Johnson AD, Elks C, Albrecht E, Andrulis IL, Beesley J, Berenson GS, Bergmann S, Bojesen SE, Bolla MK, Brown J, Buring JE, Campbell H, Chang-Claude J, Chenevix-Trench G, Corre T, Couch FJ, Cox A, Czene K, D'adamo AP, Davies G, Deary IJ, Dennis J, Easton DF, Engelhardt EG, Eriksson JG, Esko T, Fasching PA, Figueroa JD, Flyger H, Fraser A, Garcia-Closas M, Gasparini P, Gieger C, Giles G, Guenel P, Hägg S, Hall P, Hayward C, Hopper J, Ingelsson E; kConFab investigators; Kardia SL, Kasiman K, Knight JA, Lahti J, Lawlor DA, Magnusson PK, Margolin S, Marsh JA, Metspalu A, Olson JE, Pennell CE, Polasek O, Rahman I, Ridker PM, Robino A, Rudan I, Rudolph A, Salumets A, Schmidt MK, Schoemaker MJ, Smith EN, Smith JA, Southey M, Stöckl D, Swerdlow AJ, Thompson DJ, Truong T, Ulivi S, Waldenberger M, Wang Q, Wild S, Wilson JF, Wright AF, Zgaga L; ReproGen Consortium; Ong KK, Murabito JM, Karasik D, Murray A. Perry JR, et al. Among authors: gasparini p. Hum Mol Genet. 2014 May 1;23(9):2490-7. doi: 10.1093/hmg/ddt620. Epub 2013 Dec 19. Hum Mol Genet. 2014. PMID: 24357391 Free PMC article.
Association analysis of bitter receptor genes in five isolated populations identifies a significant correlation between TAS2R43 variants and coffee liking.
Pirastu N, Kooyman M, Traglia M, Robino A, Willems SM, Pistis G, d'Adamo P, Amin N, d'Eustacchio A, Navarini L, Sala C, Karssen LC, van Duijn C, Toniolo D, Gasparini P. Pirastu N, et al. Among authors: gasparini p. PLoS One. 2014 Mar 19;9(3):e92065. doi: 10.1371/journal.pone.0092065. eCollection 2014. PLoS One. 2014. PMID: 24647340 Free PMC article.
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
Perry JR, Day F, Elks CE, Sulem P, Thompson DJ, Ferreira T, He C, Chasman DI, Esko T, Thorleifsson G, Albrecht E, Ang WQ, Corre T, Cousminer DL, Feenstra B, Franceschini N, Ganna A, Johnson AD, Kjellqvist S, Lunetta KL, McMahon G, Nolte IM, Paternoster L, Porcu E, Smith AV, Stolk L, Teumer A, Tšernikova N, Tikkanen E, Ulivi S, Wagner EK, Amin N, Bierut LJ, Byrne EM, Hottenga JJ, Koller DL, Mangino M, Pers TH, Yerges-Armstrong LM, Zhao JH, Andrulis IL, Anton-Culver H, Atsma F, Bandinelli S, Beckmann MW, Benitez J, Blomqvist C, Bojesen SE, Bolla MK, Bonanni B, Brauch H, Brenner H, Buring JE, Chang-Claude J, Chanock S, Chen J, Chenevix-Trench G, Collée JM, Couch FJ, Couper D, Coveillo AD, Cox A, Czene K, D'adamo AP, Smith GD, De Vivo I, Demerath EW, Dennis J, Devilee P, Dieffenbach AK, Dunning AM, Eiriksdottir G, Eriksson JG, Fasching PA, Ferrucci L, Flesch-Janys D, Flyger H, Foroud T, Franke L, Garcia ME, García-Closas M, Geller F, de Geus EE, Giles GG, Gudbjartsson DF, Gudnason V, Guénel P, Guo S, Hall P, Hamann U, Haring R, Hartman CA, Heath AC, Hofman A, Hooning MJ, Hopper JL, Hu FB, Hunter DJ, Karasik D, Kiel DP, Knight JA, Kosma VM, Kutalik Z, Lai S, Lambrechts D, Lindblom A, M… See abstract for full author list ➔ Perry JR, et al. Among authors: gasparini p. Nature. 2014 Oct 2;514(7520):92-97. doi: 10.1038/nature13545. Epub 2014 Jul 23. Nature. 2014. PMID: 25231870 Free PMC article.
606 results