Exonic variants affecting pre-mRNA splicing add to genetic burden in chronic pancreatitis

Por Beer, Sebastian, Sahin-Tóth, Miklós
Publicado em 2013

Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis

Por Schnúr, Andrea, Beer, Sebastian, Witt, Heiko, Hegyi, Péter, Sahin-Tóth, Miklós
Publicado em 2013

Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk

Por Beer, Sebastian, Zhou, Jiayi, Szabó, András, Keiles, Steven, Chandak, Giriraj Ratan, Witt, Heiko, Sahin-Tóth, Miklós
Publicado em 2012

Gene Conversion between Cationic Trypsinogen (PRSS1) and the Pseudogene Trypsinogen 6 (PRSS3P2) in Patients with Chronic Pancreatitis

Por Rygiel, Agnieszka Magdalena, Beer, Sebastian, Simon, Peter, Wertheim-Tysarowska, Katarzyna, Oracz, Grzegorz, Kucharzik, Torsten, Tysarowski, Andrzej, Niepokój, Katarzyna, Kierkus, Jarosław, Jurek, Marta, Gawliński, Paweł, Poznański, Jarosław, Bal, Jerzy, Lerch, Markus M., Sahin-Tóth, Miklós, Weiss, Frank Ulrich
Publicado no Hum Mutat (2015)

Length of Variable Numbers of Tandem Repeats in the Carboxyl Ester Lipase (CEL) Gene May Confer Susceptibility to Alcoholic Liver Cirrhosis but Not Alcoholic Chronic Pancreatitis

Por Fjeld, Karianne, Beer, Sebastian, Johnstone, Marianne, Zimmer, Constantin, Mössner, Joachim, Ruffert, Claudia, Krehan, Mario, Zapf, Christian, Njølstad, Pål Rasmus, Johansson, Stefan, Bugert, Peter, Miyajima, Fabio, Liloglou, Triantafillos, Brown, Laura J., Winn, Simon A., Davies, Kelly, Latawiec, Diane, Gunson, Bridget K., Criddle, David N., Pirmohamed, Munir, Grützmann, Robert, Michl, Patrick, Greenhalf, William, Molven, Anders, Sutton, Robert, Rosendahl, Jonas
Publicado no PLoS One (2016)

Variants in CPA1 are strongly associated with early-onset chronic pancreatitis

Por Witt, Heiko, Beer, Sebastian, Rosendahl, Jonas, Chen, Jian-Min, Chandak, Giriraj Ratan, Masamune, Atsushi, Bence, Melinda, Szmola, Richárd, Oracz, Grzegorz, Macek, Milan, Bhatia, Eesh, Steigenberger, Sandra, Lasher, Denise, Bühler, Florence, Delaporte, Catherine, Tebbing, Johanna, Ludwig, Maren, Pilsak, Claudia, Saum, Karolin, Bugert, Peter, Masson, Emmanuelle, Paliwal, Sumit, Bhaskar, Seema, Sobczynska-Tomaszewska, Agnieszka, Bak, Daniel, Balascak, Ivan, Choudhuri, Gourdas, Reddy, D. Nageshwar, Rao, G. Venkat, Thomas, Varghese, Kume, Kiyoshi, Nakano, Eriko, Kakuta, Yoichi, Shimosegawa, Tooru, Durko, Lukasz, Szabó, András, Schnúr, Andrea, Hegyi, Péter, Rakonczay, Zoltán, Pfützer, Roland, Schneider, Alexander, Groneberg, David Alexander, Braun, Markus, Schmidt, Hartmut, Witt, Ulrike, Friess, Helmut, Algül, Hana, Landt, Olfert, Schuelke, Markus, Krüger, Renate, Wiedenmann, Bertram, Schmidt, Frank, Zimmer, Klaus-Peter, Kovacs, Peter, Stumvoll, Michael, Blüher, Matthias, Müller, Thomas, Janecke, Andreas, Teich, Niels, Grützmann, Robert, Schulz, Hans-Ulrich, Mössner, Joachim, Keim, Volker, Löhr, Matthias, Férec, Claude, Sahin-Tóth, Miklós
Publicado em 2013