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
The clinical and genetic features of hereditary pancreatitis in South Australia.
The Medical Journal Of Australia
Wu, Denghao D; Bampton, Tristan J TJ; Scott, Hamish S HS; Brown, Alex A; Kassahn, Karin K; Drogemuller, Christopher C; De Sousa, Sunita Mc SM; Moore, David D; Ha, Thuong T; Chen, John Wc JW; Khurana, Sanjeev S; Torpy, David J DJ; Radford, Toni T; Couper, Richard R; Palmer, Lyle L; Coates, P Toby PT
A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.
Cell Death & Disease
Peng, Lin L; Zhao, Min M; Liu, Tianqi T; Chen, Jiangbo J; Gao, Pin P; Chen, Lei L; Xing, Pu P; Wang, Zaozao Z; Di, Jiabo J; Xu, Qiang Q; Qu, Hong H; Jiang, Beihai B; Su, Xiangqian X
Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.
Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29
Variant appearance in text: PRSS1: 47C>T; Ala16Val; rs202003805
Tumor-Infiltrating Leukocyte Phenotypes Distinguish Outcomes in Related Patients With Pancreatic Adenocarcinoma.
Jco Precision Oncology
Link, Jason M JM; Liudahl, Shannon M SM; Betts, Courtney B CB; Sivagnanam, Shamilene S; Leis, Kenna R KR; McDonnell, Mary M; Pelz, Carl R CR; Johnson, Brett B; Hamman, Kelly J KJ; Keith, Dove D; Sampson, Jone E JE; Morgan, Terry K TK; Lopez, Charles D CD; Coussens, Lisa M LM; Sears, Rosalie C RC
Deregulated Immune Pathway Associated with Palbociclib Resistance in Preclinical Breast Cancer Models: Integrative Genomics and Transcriptomics.
Genes
Pandey, Kamal K; Lee, Eunbyeol E; Park, Nahee N; Hur, Jin J; Cho, Young Bin YB; Katuwal, Nar Bahadur NB; Kim, Seung Ki SK; Lee, Seung Ah SA; Kim, Isaac I; An, Hee Jung HJ; Hwang, Sohyun S; Moon, Yong Wha YW
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
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
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02
Variant appearance in text: PRSS1: A16V; rs202003805
Prevalence of abnormal glucose metabolism in pediatric acute, acute recurrent and chronic pancreatitis.
Plos One
Abu-El-Haija, Maisam M; Hornung, Lindsey L; Denson, Lee A LA; Husami, Ammar A; Lin, Tom K TK; Matlock, Kristal K; Nathan, Jaimie D JD; Palermo, Joseph J JJ; Thompson, Tyler T; Valencia, C Alexander CA; Wang, Xinjian X; Woo, Jessica J; Zhang, Keijan K; Elder, Deborah D
Accelerating the Drug Delivery Pipeline for Acute and Chronic Pancreatitis: Summary of the Working Group on Drug Development and Trials in Recurrent Acute Pancreatitis at the National Institute of Diabetes and Digestive and Kidney Diseases Workshop.
Pancreas
Lowe, Mark E ME; Goodman, Marc T MT; Coté, Gregory A GA; Glesby, Marshall J MJ; Haupt, Mark M; Schork, Nicholas J NJ; Singh, Vikesh K VK; Andersen, Dana K DK; Pandol, Stephen J SJ; Uc, Aliye A; Whitcomb, David C DC
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Comprehensive Molecular Profiling Identifies FOXM1 as a Key Transcription Factor for Meningioma Proliferation.
Cell Reports
Vasudevan, Harish N HN; Braunstein, Steve E SE; Phillips, Joanna J JJ; Pekmezci, Melike M; Tomlin, Bryan A BA; Wu, Ashley A; Reis, Gerald F GF; Magill, Stephen T ST; Zhang, Jie J; Feng, Felix Y FY; Nicholaides, Theodore T; Chang, Susan M SM; Sneed, Penny K PK; McDermott, Michael W MW; Berger, Mitchel S MS; Perry, Arie A; Raleigh, David R DR
Publication Date: 2018-03-27
Variant appearance in text: PRSS1: 47C>T; Ala16Val
Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.
Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21
Variant appearance in text: PRSS1: 47C>T; A16V; rs202003805
Organoids model distinct Vitamin E effects at different stages of prostate cancer evolution.
Scientific Reports
Njoroge, Rose N RN; Unno, Kenji K; Zhao, Jonathan C JC; Naseem, Anum F AF; Anker, Jonathan F JF; McGee, Warren A WA; Nonn, Larisa L; Abdulkadir, Sarki A SA
Publication Date: 2017-11-24
Variant appearance in text: PRSS1: A16V; rs202003805
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
United European Gastroenterology evidence-based guidelines for the diagnosis and therapy of chronic pancreatitis (HaPanEU).
United European Gastroenterology Journal
Löhr, J Matthias JM; Dominguez-Munoz, Enrique E; Rosendahl, Jonas J; Besselink, Marc M; Mayerle, Julia J; Lerch, Markus M MM; Haas, Stephan S; Akisik, Fatih F; Kartalis, Nikolaos N; Iglesias-Garcia, Julio J; Keller, Jutta J; Boermeester, Marja M; Werner, Jens J; Dumonceau, Jean-Marc JM; Fockens, Paul P; Drewes, Asbjorn A; Ceyhan, Gürlap G; Lindkvist, Björn B; Drenth, Joost J; Ewald, Nils N; Hardt, Philip P; de Madaria, Enrique E; Witt, Heiko H; Schneider, Alexander A; Manfredi, Riccardo R; Brøndum, Frøkjer J FJ; Rudolf, Sasa S; Bollen, Thomas T; Bruno, Marco M; ,
Clinical aspects of pancreatogenic diabetes secondary to hereditary pancreatitis.
Diabetology & Metabolic Syndrome
Dytz, Marcio Garrison MG; Marcelino, Pedro Arthur Hamamoto PA; de Castro Santos, Olga O; Zajdenverg, Lenita L; Conceição, Flavia Lucia FL; Ortiga-Carvalho, Tânia Maria TM; Rodacki, Melanie M
Genophenotypic Analysis of Pediatric Patients With Acute Recurrent and Chronic Pancreatitis.
Pancreas
Palermo, Joseph J JJ; Lin, Tom K TK; Hornung, Lindsey L; Valencia, C Alexander CA; Mathur, Abhinav A; Jackson, Kimberly K; Fei, Lin L; Abu-El-Haija, Maisam M
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