Expression Analysis of ATP-Binding Cassette Transporters ABCB11 and ABCB4 in Primary Sclerosing Cholangitis and Variety of Pediatric and Adult Cholestatic and Noncholestatic Liver...

por Thoeni, Cornelia, Waldherr, Ruediger, Scheuerer, Jutta, Schmitteckert, Stefanie, Roeth, Ralph, Niesler, Beate, Cutz, Ernest, Flechtenmacher, Christa, Goeppert, Benjamin, Schirmacher, Peter, Lasitschka, Felix
Publicado en Can J Gastroenterol Hepatol (2019)

Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia

por Elkadri, Abdul, Thoeni, Cornelia, Deharvengt, Sophie J., Murchie, Ryan, Guo, Conghui, Stavropoulos, James D., Marshall, Christian R., Wales, Paul, Bandsma, Robert H.J., Cutz, Ernest, Roifman, Chaim M., Chitayat, David, Avitzur, Yaron, Stan, Radu V., Muise, Aleixo M.
Publicado en Cell Mol Gastroenterol Hepatol (2015)

Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease

por Kahr, Walter H. A., Pluthero, Fred G., Elkadri, Abdul, Warner, Neil, Drobac, Marko, Chen, Chang Hua, Lo, Richard W., Li, Ling, Li, Ren, Li, Qi, Thoeni, Cornelia, Pan, Jie, Leung, Gabriella, Lara-Corrales, Irene, Murchie, Ryan, Cutz, Ernest, Laxer, Ronald M., Upton, Julia, Roifman, Chaim M., Yeung, Rae S. M., Brumell, John H, Muise, Aleixo M
Publicado en Nat Commun (2017)

Defects in Nicotinamide-adenine Dinucleotide Phosphate Oxidase Genes NOX1 and DUOX2 in Very Early Onset Inflammatory Bowel Disease

por Hayes, Patti, Dhillon, Sandeep, O’Neill, Kim, Thoeni, Cornelia, Hui, Ken Y., Elkadri, Abdul, Guo, Conghui H., Kovacic, Lidija, Aviello, Gabriella, Alvarez, Luis A., Griffiths, Anne M., Snapper, Scott B., Brant, Steven R., Doroshow, James H., Silverberg, Mark S., Peter, Inga, McGovern, Dermot P.B., Cho, Judy, Brumell, John H., Uhlig, Holm H., Bourke, Billy, Muise, Aleixo M., Knaus, Ulla G.
Publicado en Cell Mol Gastroenterol Hepatol (2015)

Variants in TRIM22 that Affect NOD2 Signaling Are Associated With Very Early Onset Inflammatory Bowel Disease

por Li, Qi, Lee, Cheng Hiang, Peters, Lauren A, Mastropaolo, Lucas A, Thoeni, Cornelia, Elkadri, Abdul, Schwerd, Tobias, Zhu, Jun, Zhang, Bin, Zhao, Yongzhong, Hao, Ke, Dinarzo, Antonio, Hoffman, Gabriel, Kidd, Brian A, Murchie, Ryan, Adham, Ziad Al, Guo, Conghui, Kotlarz, Daniel, Cutz, Ernest, Walters, Thomas D, Shouval, Dror S, Curran, Mark, Dobrin, Radu, Brodmerkel, Carrie, Snapper, Scott B, Klein, Christoph, Brumell, John H, Hu, Mingjing, Nanan, Ralph, Snanter-Nanan, Brigitte, Wong, Melanie, Le Deist, Francoise, Haddad, Elie, Roifman, Chaim M, Deslandres, Colette, Griffiths, Anne M, Gaskin, Kevin J, Uhlig, Holm H, Schadt, Eric E, Muise, Aleixo M
Publicado en Gastroenterology (2016)