Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
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: PRSS1: 364C>T; Arg122Cys; rs111033568
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
Known genetic susceptibility factors for chronic pancreatitis in patients of European ancestry are rare in patients of African ancestry.
Pancreatology : Official Journal Of The International Association Of Pancreatology (Iap) ... [Et Al.]
Phillips, Anna Evans AE; LaRusch, Jessica J; Greer, Phil P; Abberbock, Judah J; Alkaade, Samer S; Amann, Stephen T ST; Anderson, Michelle A MA; Baillie, John J; Banks, Peter A PA; Brand, Randall E RE; Conwell, Darwin D; Coté, Gregory A GA; Forsmark, Christopher E CE; Gardner, Timothy B TB; Gelrud, Andres A; Guda, Nalini N; Lewis, Michele M; Money, Mary E ME; Muniraj, Thiruvengadam T; Sandhu, Bimaljit S BS; Sherman, Stuart S; Singh, Vikesh K VK; Slivka, Adam A; Tang, Gong G; Wilcox, C Mel CM; Whitcomb, David C DC; Yadav, Dhiraj D
Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations.
The Journal Of Pediatrics
Giefer, Matthew J MJ; Lowe, Mark E ME; Werlin, Steven L SL; Zimmerman, Bridget B; Wilschanski, Michael M; Troendle, David D; Schwarzenberg, Sarah Jane SJ; Pohl, John F JF; Palermo, Joseph J; Ooi, Chee Y CY; Morinville, Veronique D VD; Lin, Tom K TK; Husain, Sohail Z SZ; Himes, Ryan R; Heyman, Melvin B MB; Gonska, Tanja T; Gariepy, Cheryl E CE; Freedman, Steven D SD; Fishman, Douglas S DS; Bellin, Melena D MD; Barth, Bradley B; Abu-El-Haija, Maisam M; Uc, Aliye A
Analysis of protein-coding genetic variation in 60,706 humans.
Nature
Lek, Monkol M; Karczewski, Konrad J KJ; Minikel, Eric V EV; Samocha, Kaitlin E KE; Banks, Eric E; Fennell, Timothy T; O'Donnell-Luria, Anne H AH; Ware, James S JS; Hill, Andrew J AJ; Cummings, Beryl B BB; Tukiainen, Taru T; Birnbaum, Daniel P DP; Kosmicki, Jack A JA; Duncan, Laramie E LE; Estrada, Karol K; Zhao, Fengmei F; Zou, James J; Pierce-Hoffman, Emma E; Berghout, Joanne J; Cooper, David N DN; Deflaux, Nicole N; DePristo, Mark M; Do, Ron R; Flannick, Jason J; Fromer, Menachem M; Gauthier, Laura L; Goldstein, Jackie J; Gupta, Namrata N; Howrigan, Daniel D; Kiezun, Adam A; Kurki, Mitja I MI; Moonshine, Ami Levy AL; Natarajan, Pradeep P; Orozco, Lorena L; Peloso, Gina M GM; Poplin, Ryan R; Rivas, Manuel A MA; Ruano-Rubio, Valentin V; Rose, Samuel A SA; Ruderfer, Douglas M DM; Shakir, Khalid K; Stenson, Peter D PD; Stevens, Christine C; Thomas, Brett P BP; Tiao, Grace G; Tusie-Luna, Maria T MT; Weisburd, Ben B; Won, Hong-Hee HH; Yu, Dongmei D; Altshuler, David M DM; Ardissino, Diego D; Boehnke, Michael M; Danesh, John J; Donnelly, Stacey S; Elosua, Roberto R; Florez, Jose C JC; Gabriel, Stacey B SB; Getz, Gad G; Glatt, Stephen J SJ; Hultman, Christina M CM; Kathiresan, Sekar S; Laakso, Markku M; McCarroll, Steven S; McCarthy, Mark I MI; McGovern, Dermot D; McPherson, Ruth R; Neale, Benjamin M BM; Palotie, Aarno A; Purcell, Shaun M SM; Saleheen, Danish D; Scharf, Jeremiah M JM; Sklar, Pamela P; Sullivan, Patrick F PF; Tuomilehto, Jaakko J; Tsuang, Ming T MT; Watkins, Hugh C HC; Wilson, James G JG; Daly, Mark J MJ; MacArthur, Daniel G DG; ,
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08
Variant appearance in text: PRSS1: R122C; rs111033568
Hereditary Pancreatitis Associated With the N29T Mutation of the PRSS1 Gene in a Brazilian Family: A Case-Control Study.
Medicine
Dytz, Marcio Garrison MG; Mendes de Melo, Julia J; de Castro Santos, Olga O; da Silva Santos, Isabel Durso ID; Rodacki, Melanie M; Conceição, Flavia Lucia FL; Ortiga-Carvalho, Tania Maria TM
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
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
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
Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography.
Bmc Genetics
Le Maréchal, C C; Chen, J M JM; Quéré, I I; Raguénès, O O; Férec, C C; Auroux, J J