Novel Pathogenic PRSS1 Variant p.Glu190Lys in a Case of Chronic Pancreatitis.
Frontiers In Genetics
Jancsó, Zsanett Z; Oracz, Grzegorz G; Kujko, Aleksandra Anna AA; Kolodziejczyk, Eliwira E; Radisky, Evette S ES; Rygiel, Agnieszka Magdalena AM; Sahin-Tóth, Miklós M
Robust autoactivation, chymotrypsin C independence and diminished secretion define a subset of hereditary pancreatitis-associated cationic trypsinogen mutants.
The Febs Journal
Geisz, Andrea A; Hegyi, Péter P; Sahin-Tóth, Miklós M
A common variant of PNPLA3 (p.I148M) is not associated with alcoholic chronic pancreatitis.
Plos One
Rosendahl, Jonas J; Tönjes, Anke A; Schleinitz, Dorit D; Kovacs, Peter P; Wiegand, Johannes J; Ruffert, Claudia C; Jesinghaus, Moritz M; Schober, Robert R; Herms, Max M; Grützmann, Robert R; Schulz, Hans-Ulrich HU; Stickel, Felix F; Werner, Jens J; Bugert, Peter P; Blüher, Matthias M; Stumvoll, Michael M; Böhm, Stephan S; Berg, Thomas T; Wittenburg, Henning H; Mössner, Joachim J; te Morsche, Rene R; Derikx, Monique M; Keim, Volker V; Witt, Heiko H; Drenth, Joost P H JP
Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis.
Pancreas
Joergensen, Maiken T MT; Geisz, Andrea A; Brusgaard, Klaus K; Schaffalitzky de Muckadell, Ove B OB; Hegyi, Péter P; Gerdes, Anne-Marie AM; Sahin-Tóth, Miklós M
The prevalence of cationic trypsinogen (PRSS1) and serine protease inhibitor, Kazal type 1 (SPINK1) gene mutations in Polish patients with alcoholic and idiopathic chronic pancreatitis.
Digestive Diseases And Sciences
Gasiorowska, Anita A; Talar-Wojnarowska, Renata R; Czupryniak, Leszek L; Smolarz, Beata B; Romanowicz-Makowska, Hanna H; Kulig, Andrzej A; Malecka-Panas, Ewa E
The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancreatitis but does not cause the disease.
Gut
Threadgold, J J; Greenhalf, W W; Ellis, I I; Howes, N N; Lerch, M M MM; Simon, P P; Jansen, J J; Charnley, R R; Laugier, R R; Frulloni, L L; Oláh, A A; Delhaye, M M; Ihse, I I; Schaffalitzky de Muckadell, O B OB; Andrén-Sandberg, A A; Imrie, C W CW; Martinek, J J; Gress, T M TM; Mountford, R R; Whitcomb, D D; Neoptolemos, J P JP