Novel p.G250A Mutation Associated with Chronic Pancreatitis Highlights Misfolding-Prone Region in Carboxypeptidase A1 (CPA1).
International Journal Of Molecular Sciences
Sándor, Máté M; Thiel, Franziska G FG; Schmid, Margit M; Demcsák, Alexandra A; Morales Granda, Nataly C NC; Németh, Balázs Csaba BC; Vajda, Sandor S; Hoerning, André A; Sahin-Tóth, Miklós M
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: CTRC: 217G>A; Ala73Thr; rs515726209
Causal Evaluation of Acute Recurrent and Chronic Pancreatitis in Children: Consensus From the INSPPIRE Group.
Journal Of Pediatric Gastroenterology And Nutrition
Gariepy, Cheryl E CE; Heyman, Melvin B MB; Lowe, Mark E ME; Pohl, John F JF; Werlin, Steven L SL; Wilschanski, Michael M; Barth, Bradley B; Fishman, Douglas S DS; Freedman, Steven D SD; Giefer, Matthew J MJ; Gonska, Tanja T; Himes, Ryan R; Husain, Sohail Z SZ; Morinville, Veronique D VD; Ooi, Chee Y CY; Schwarzenberg, Sarah J SJ; Troendle, David M DM; Yen, Elizabeth E; Uc, Aliye A
The Common Chymotrypsinogen C (CTRC) Variant G60G (C.180T) Increases Risk of Chronic Pancreatitis But Not Recurrent Acute Pancreatitis in a North American Population.
Clinical And Translational Gastroenterology
LaRusch, Jessica J; Lozano-Leon, Antonio A; Stello, Kimberly K; Moore, Amanda A; Muddana, Venkata V; O'Connell, Michael M; Diergaarde, Brenda B; Yadav, Dhiraj D; Whitcomb, David C DC
Comprehensive screening for PRSS1, SPINK1, CFTR, CTRC and CLDN2 gene mutations in Chinese paediatric patients with idiopathic chronic pancreatitis: a cohort study.
A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.
Plos One
Masson, Emmanuelle E; Chen, Jian-Min JM; Audrézet, Marie-Pierre MP; Cooper, David N DN; Férec, Claude C
Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.
Nature Genetics
Rosendahl, Jonas J; Witt, Heiko H; Szmola, Richárd R; Bhatia, Eesh E; Ozsvári, Béla B; Landt, Olfert O; Schulz, Hans-Ulrich HU; Gress, Thomas M TM; Pfützer, Roland R; Löhr, Matthias M; Kovacs, Peter P; Blüher, Matthias M; Stumvoll, Michael M; Choudhuri, Gourdas G; Hegyi, Péter P; te Morsche, René H M RH; Drenth, Joost P H JP; Truninger, Kaspar K; Macek, Milan M; Puhl, Gero G; Witt, Ulrike U; Schmidt, Hartmut H; Büning, Carsten C; Ockenga, Johann J; Kage, Andreas A; Groneberg, David Alexander DA; Nickel, Renate R; Berg, Thomas T; Wiedenmann, Bertram B; Bödeker, Hans H; Keim, Volker V; Mössner, Joachim J; Teich, Niels N; Sahin-Tóth, Miklós M