International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways

Autor: Cordell, HJ, Han, Y, Mells, GF, Li, Y, Hirschfield, GM, Greene, CS, Xie, G, Juran, BD, Zhu, D, Qian, DC, Floyd, JAB, Morley, KI, Prati, D, Lleo, A, Cusi, D, Gershwin, ME, Anderson, CA, Lazaridis, KN, Invernizzi, P, Seldin, MF, Sandford, RN, Amos, CI, Siminovitch, KA, Schlicht, EM, Lammert, C, Atkinson, EJ, Chan, LL, De Andrade, M, Balschun, T, Mason, AL, Myers, RP, Zhang, J, Milkiewicz, P, Qu, J, Odin, JA, Luketic, VA, Bacon, BR, Bodenheimer, HC, Liakina, V, Vincent, C, Levy, C, Gregersen, PK, Almasio, PL, Alvaro, D, Andreone, P, Andriulli, A, Barlassina, C, Battezzati, PM, Benedetti, A, Bernuzzi, F, Bianchi, I, Bragazzi, MC, Brunetto, M, Bruno, S, Casella, G, Coco, B, Colli, A, Colombo, M, Colombo, S, Cursaro, C, Crocè, LS, Crosignani, A, Donato, MF, Elia, G, Fabris, L, Ferrari, C, Floreani, A, Foglieni, B, Fontana, R, Galli, A, Lazzari, R, Macaluso, F, Malinverno, F, Marra, F, Marzioni, M, Mattalia, A, Montanari, R, Morini, L, Morisco, F, Mousa Hani, S, Muratori, L, Muratori, P, Niro, GA, Palmieri, VO, Picciotto, A, Podda, M, Portincasa, P, Ronca, V, Rosina, F, Rossi, S, Sogno, I, Spinzi, G, Spreafico, M

© 2015 Macmillan Publishers Limited. All rights reserved.Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data sets from genom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1032::c707b41993c0ef059c9d7e88f5f038d5
http://hdl.handle.net/10044/1/32625

Scanning mutations of the 5'UTR regulatory sequence of L-ferritin by denaturing high-performance liquid chromatography: identification of new mutations

Autor: CREMONESI L, PARONI R, FOGLIENI B, GALBIATI S, FERMO I, SORIANI N, BELLOLI S, RUGGERI G, BIASOTTO G, CAZZOLA M, FERRARI F, AROSIO P., FERRARI , MAURIZIO

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_____10495::f2b680d5bfa35bed43b359226a952eff

Analysis of clinically relevant single nucleotide polymorphisms by use of microelectronic array technology

Autor: SANTACROCE R, RATTI A, CAROLI F, FOGLIENI B, CREMONESI L, FERRARIS A, MARGAGLIONE M, SERI M, RAVAZZOLO R, DALLAPICCOLA B, RAPPAPORT E, POLLACK E, SURREY S, MCENTIRE JE, FORTINA P., FERRARI , MAURIZIO

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_____10495::6000b83f3262290b803596d0c2e3f2bd

DHPLC scan of iron genes in consecutive patients with suspected iron overload

Autor: Bozzini, C, Biasiotto, G, Foglieni, B, Corrocher, Roberto, Girelli, Domenico

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1943::855063e9d0ea88df98743747eab12797
http://hdl.handle.net/11562/23932

Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology

Autor: Santacroce, R., Ratti, A., Caroli, F., Foglieni, B., Ferraris, A., Cremonesi, L., Margaglione, M., Seri, M., Ravazzolo, R., Restagno, G., Bruno Dallapiccola, Rappaport, E., Pollak, E. S., Surrey, S., Ferrari, M., Fortina, P.

Publikováno v: Scopus-Elsevier
Europe PubMed Central

Microelectronic DNA chip devices represent an emerging technology for genotyping. We developed methods for detection of single-nucleotide polymorphisms (SNPs) in clinically relevant genes.Primer pairs, with one containing a 5'-biotin group, were used

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::76a71a468de73a79c86f3101c7714ad5
https://pubmed.ncbi.nlm.nih.gov/12446467