PRSS1 c.47C>T ;(p.A16V)

Variant ID: 7-142458412-C-T

NM_002769.4(PRSS1):c.47C>T;(p.A16V)

This variant was identified in 103 publications

View GRCh38 version.




Publications:


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
Publication Date: 2022-11-07

Variant appearance in text: PRSS1: A16V
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Aberrant Cholesterol Metabolism and Wnt/β-Catenin Signaling Coalesce via Frizzled5 in Supporting Cancer Growth.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
Zheng, Shaoqin S; Lin, Jiahui J; Pang, Zhongqiu Z; Zhang, Hui H; Wang, Yinuo Y; Ma, Lanjing L; Zhang, Haijiao H; Zhang, Xi X; Chen, Maorong M; Zhang, Xinjun X; Zhao, Chao C; Qi, Jun J; Cao, Liu L; Wang, Min M; He, Xi X; Sheng, Ren R
Publication Date: 2022-10

Variant appearance in text: PRSS1: A16V
PubMed Link: 35975457
Variant Present in the following documents:
  • ADVS-9-2200750-s002.xlsx, sheet 1
View BVdb publication page



Expanding ACMG variant classification guidelines into a general framework.

Human Genomics
Masson, Emmanuelle E; Zou, Wen-Bin WB; Génin, Emmanuelle E; Cooper, David N DN; Le Gac, Gerald G; Fichou, Yann Y; Pu, Na N; Rebours, Vinciane V; Férec, Claude C; Liao, Zhuan Z; Chen, Jian-Min JM
Publication Date: 2022-08-16

Variant appearance in text: PRSS1: Ala16Val
PubMed Link: 35974416
Variant Present in the following documents:
  • Main text
  • 40246_2022_Article_407.pdf
View BVdb publication page



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
Publication Date: 2022-06-20

Variant appearance in text: PRSS1: A16V
PubMed Link: 35578795
Variant Present in the following documents:
  • Main text
  • MJA2-216-578.pdf
View BVdb publication page



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
Publication Date: 2022-04-22

Variant appearance in text: PRSS1: A16V
PubMed Link: 35459861
Variant Present in the following documents:
  • 41419_2022_4844_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Alcohol predisposes obese mice to acute pancreatitis via adipose triglyceride lipase-dependent visceral adipocyte lipolysis.

Gut
Yang, Xinmin X; Yao, Linbo L; Dai, Lei L; Yuan, Mei M; He, Wenhua W; Liu, Tingting T; Fu, Xianghui X; Xue, Jing J; Sutton, Robert R; Xia, Qing Q; Huang, Wei W
Publication Date: 2022-04-22

Variant appearance in text: PRSS1: 47C>T; Ala16Val
PubMed Link: 35459708
Variant Present in the following documents:
  • gutjnl-2022-326958.pdf
View BVdb publication page



Hereditary pancreatitis: An updated review in pediatrics.

World Journal Of Clinical Pediatrics
Panchoo, Arvind Vasant AV; VanNess, Grant H GH; Rivera-Rivera, Edgardo E; Laborda, Trevor J TJ
Publication Date: 2022-01-09

Variant appearance in text: PRSS1: A16V
PubMed Link: 35096544
Variant Present in the following documents:
  • WJCP-11-27.pdf
View BVdb publication page



The Role of Gut Microbiota and Genetic Susceptibility in the Pathogenesis of Pancreatitis.

Gut And Liver
Xu, Fumin F; Yang, Chunmei C; Tang, Mingcheng M; Wang, Ming M; Cheng, Zhenhao Z; Chen, Dongfeng D; Chen, Xiao X; Liu, Kaijun K
Publication Date: 2022-09-15

Variant appearance in text: PRSS1: A16V
PubMed Link: 34911043
Variant Present in the following documents:
  • gnl-16-5-686.pdf
View BVdb publication page



Genetic Risk Factors in Early-Onset Nonalcoholic Chronic Pancreatitis: An Update.

Genes
Wertheim-Tysarowska, Katarzyna K; Oracz, Grzegorz G; Rygiel, Agnieszka Magdalena AM
Publication Date: 2021-05-20

Variant appearance in text: PRSS1: Ala16Val
PubMed Link: 34065437
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



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
Publication Date: 2021

Variant appearance in text: PRSS1: A16V
PubMed Link: 34036232
Variant Present in the following documents:
  • Main text
  • po-5-po.20.00287.pdf
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: PRSS1: A16V; rs202003805
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



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
Publication Date: 2021-01-25

Variant appearance in text: PRSS1: A16V
PubMed Link: 33504001
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Abnormalities in Pancreatitis: An Update on Diagnosis, Clinical Features, and Treatment.

Diagnostics (Basel, Switzerland)
Suzuki, Mitsuyoshi M; Minowa, Kei K; Nakano, Satoshi S; Isayama, Hiroyuki H; Shimizu, Toshiaki T
Publication Date: 2020-12-26

Variant appearance in text: PRSS1: A16V
PubMed Link: 33375361
Variant Present in the following documents:
  • Main text
  • diagnostics-11-00031.pdf
View BVdb publication page



MUTYH: Not just polyposis.

World Journal Of Clinical Oncology
Curia, Maria Cristina MC; Catalano, Teresa T; Aceto, Gitana Maria GM
Publication Date: 2020-07-24

Variant appearance in text: PRSS1: 47C>T; A16V
PubMed Link: 32821650
Variant Present in the following documents:
  • Main text
  • WJCO-11-428.pdf
View BVdb publication page



Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Bmc Medical Genetics
Zhou, Yingjie Y; Tariq, Muhammad M; He, Sijie S; Abdullah, Uzma U; Zhang, Jianguo J; Baig, Shahid Mahmood SM
Publication Date: 2020-07-18

Variant appearance in text: PRSS1: 47C>T
PubMed Link: 32682410
Variant Present in the following documents:
  • 12881_2020_1087_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



Hereditary pancreatitis model by blastocyst complementation in mouse.

Oncotarget
Asai, Ayumu A; Konno, Masamitsu M; Kawamoto, Koichi K; Isotani, Ayako A; Mori, Masaki M; Eguchi, Hidetoshi H; Doki, Yuichiro Y; Arai, Takahiro T; Ishii, Hideshi H
Publication Date: 2020-06-02

Variant appearance in text: PRSS1: A16V
PubMed Link: 32547704
Variant Present in the following documents:
  • Main text
  • oncotarget-11-2061.pdf
View BVdb publication page



Translational Control of Secretory Proteins in Health and Disease.

International Journal Of Molecular Sciences
Karamyshev, Andrey L AL; Tikhonova, Elena B EB; Karamysheva, Zemfira N ZN
Publication Date: 2020-04-06

Variant appearance in text: PRSS1: A16V
PubMed Link: 32268488
Variant Present in the following documents:
  • Main text
  • ijms-21-02538.pdf
View BVdb publication page



Impact of hereditary pancreatitis on patients and their families.

Journal Of Genetic Counseling
Shelton, Celeste A CA; Grubs, Robin E RE; Umapathy, Chandraprakash C; Yadav, Dhiraj D; Whitcomb, David C DC
Publication Date: 2020-12

Variant appearance in text: PRSS1: A16V
PubMed Link: 32026589
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of novel genetic alterations in salivary gland secretory carcinoma.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Na, Kiyong K; Hernandez-Prera, Juan C JC; Lim, Jae-Yol JY; Woo, Ha Young HY; Yoon, Sun Och SO
Publication Date: 2020-04

Variant appearance in text: PRSS1: 47C>T; A16V
PubMed Link: 31822803
Variant Present in the following documents:
  • Main text
  • 41379_2019_Article_427.pdf
View BVdb publication page



Natural single-nucleotide deletion in chymotrypsinogen C gene increases severity of secretagogue-induced pancreatitis in C57BL/6 mice.

Jci Insight
Geisz, Andrea A; Jancsó, Zsanett Z; Németh, Balázs Csaba BC; Hegyi, Eszter E; Sahin-Tóth, Miklós M
Publication Date: 2019-07-25

Variant appearance in text: PRSS1: A16V
PubMed Link: 31211695
Variant Present in the following documents:
  • Main text
View BVdb publication page



Etiology and Risk Factors of Acute and Chronic Pancreatitis.

Visceral Medicine
Weiss, Frank Ulrich FU; Laemmerhirt, Felix F; Lerch, Markus M MM
Publication Date: 2019-04

Variant appearance in text: PRSS1: A16V
PubMed Link: 31192240
Variant Present in the following documents:
  • Main text
View BVdb publication page



Silencing of Aberrant Secretory Protein Expression by Disease-Associated Mutations.

Journal Of Molecular Biology
Tikhonova, Elena B EB; Karamysheva, Zemfira N ZN; von Heijne, Gunnar G; Karamyshev, Andrey L AL
Publication Date: 2019-06-28

Variant appearance in text: PRSS1: A16V
PubMed Link: 31100385
Variant Present in the following documents:
  • Main text
View BVdb publication page



Extracting Complementary Insights from Molecular Phenotypes for Prioritization of Disease-Associated Mutations.

Current Opinion In Systems Biology
Wierbowski, Shayne D SD; Fragoza, Robert R; Liang, Siqi S; Yu, Haiyuan H
Publication Date: 2018-10

Variant appearance in text: PRSS1: A16V; rs202003805
PubMed Link: 31086831
Variant Present in the following documents:
  • Main text
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: PRSS1: 47C>T; Ala16Val
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.

Scientific Reports
Lin, Peng-Chan PC; Yeh, Yu-Min YM; Wu, Pei-Ying PY; Hsu, Keng-Fu KF; Chang, Jang-Yang JY; Shen, Meng-Ru MR
Publication Date: 2019-03-08

Variant appearance in text: PRSS1: 47C>T; Ala16Val
PubMed Link: 30850667
Variant Present in the following documents:
  • Main text
  • 41598_2019_40571_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



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
Publication Date: 2019-02-27

Variant appearance in text: rs202003805
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



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
Publication Date: 2019

Variant appearance in text: PRSS1: Ala16Val
PubMed Link: 30792736
Variant Present in the following documents:
  • Main text
  • fgene-10-00046.pdf
View BVdb publication page



Genetics, Cell Biology, and Pathophysiology of Pancreatitis.

Gastroenterology
Mayerle, Julia J; Sendler, Matthias M; Hegyi, Eszter E; Beyer, Georg G; Lerch, Markus M MM; Sahin-Tóth, Miklós M
Publication Date: 2019-05

Variant appearance in text: PRSS1: A16V
PubMed Link: 30660731
Variant Present in the following documents:
  • Main text
View BVdb publication page



Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One
Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD
Publication Date: 2019

Variant appearance in text: PRSS1: 47C>T; Ala16Val
PubMed Link: 30608972
Variant Present in the following documents:
  • pone.0210079.s007.xlsx, sheet 18
View BVdb publication page



A preclinical model of chronic pancreatitis driven by trypsinogen autoactivation.

Nature Communications
Geisz, Andrea A; Sahin-Tóth, Miklós M
Publication Date: 2018-11-28

Variant appearance in text: PRSS1: A16V
PubMed Link: 30487519
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_7347.pdf
View BVdb publication page



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
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



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
Publication Date: 2018

Variant appearance in text: PRSS1: A16V
PubMed Link: 30379828
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Publication Date: 2018

Variant appearance in text: PRSS1: A16V
PubMed Link: 30325857
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Alterations of Periampullary and Pancreatic Ductal Adenocarcinoma: An Overview.

Current Genomics
Sikdar, Nilabja N; Saha, Gourab G; Dutta, Ashmita A; Ghosh, Shibajyoti S; Shrikhande, Shailesh V SV; Banerjee, Sudeep S
Publication Date: 2018-09

Variant appearance in text: PRSS1: A16V
PubMed Link: 30258276
Variant Present in the following documents:
  • Main text
  • CG-19-444.pdf
View BVdb publication page



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.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: PRSS1: 47C>T; A16V; rs202003805
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 4
  • MGG3-6-739-s002.xlsx, sheet 6
  • MGG3-6-739-s002.xlsx, sheet 3
View BVdb publication page



Alternative assembly of respiratory complex II connects energy stress to metabolic checkpoints.

Nature Communications
Bezawork-Geleta, Ayenachew A; Wen, He H; Dong, LanFeng L; Yan, Bing B; Vider, Jelena J; Boukalova, Stepana S; Krobova, Linda L; Vanova, Katerina K; Zobalova, Renata R; Sobol, Margarita M; Hozak, Pavel P; Novais, Silvia Magalhaes SM; Caisova, Veronika V; Abaffy, Pavel P; Naraine, Ravindra R; Pang, Ying Y; Zaw, Thiri T; Zhang, Ping P; Sindelka, Radek R; Kubista, Mikael M; Zuryn, Steven S; Molloy, Mark P MP; Berridge, Michael V MV; Pacak, Karel K; Rohlena, Jakub J; Park, Sunghyouk S; Neuzil, Jiri J
Publication Date: 2018-06-07

Variant appearance in text: rs202003805
PubMed Link: 29880867
Variant Present in the following documents:
  • 41467_2018_4603_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



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
PubMed Link: 29590631
Variant Present in the following documents:
  • NIHMS1704835-supplement-Table_S3.xlsx, sheet 2
View BVdb publication page



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
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



Novel PRSS1 Mutation p.P17T Validates Pathogenic Relevance of CTRC-Mediated Processing of the Trypsinogen Activation Peptide in Chronic Pancreatitis.

The American Journal Of Gastroenterology
Németh, Balázs Csaba BC; Szücs, Ákos Á; Hegyi, Péter P; Sahin-Tóth, Miklós M
Publication Date: 2017-12

Variant appearance in text: PRSS1: A16V
PubMed Link: 29215622
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 29176677
Variant Present in the following documents:
  • 41598_2017_16459_MOESM1_ESM.pdf
View BVdb publication page



Genetic risk in chronic pancreatitis: the misfolding-dependent pathway.

Current Opinion In Gastroenterology
Sahin-Tóth, Miklós M
Publication Date: 2017-09

Variant appearance in text: PRSS1: A16V
PubMed Link: 28650851
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Risk in Chronic Pancreatitis: The Trypsin-Dependent Pathway.

Digestive Diseases And Sciences
Hegyi, Eszter E; Sahin-Tóth, Miklós M
Publication Date: 2017-07

Variant appearance in text: PRSS1: A16V
PubMed Link: 28536777
Variant Present in the following documents:
  • Main text
  • 10620_2017_Article_4601.pdf
View BVdb publication page



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
Publication Date: 2017-07

Variant appearance in text: PRSS1: A16V
PubMed Link: 28502372
Variant Present in the following documents:
  • Main text
View BVdb publication page



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; ,
Publication Date: 2017-03

Variant appearance in text: PRSS1: A16V
PubMed Link: 28344786
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Publication Date: 2017

Variant appearance in text: PRSS1: A16V
PubMed Link: 28101143
Variant Present in the following documents:
  • Main text
  • 13098_2017_Article_203.pdf
View BVdb publication page



Hereditary pancreatitis: current perspectives.

Clinical And Experimental Gastroenterology
Raphael, Kara L KL; Willingham, Field F FF
Publication Date: 2016

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PubMed Link: 27555793
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Systematic drug screening reveals specific vulnerabilities and co-resistance patterns in endocrine-resistant breast cancer.

Bmc Cancer
Kangaspeska, Sara S; Hultsch, Susanne S; Jaiswal, Alok A; Edgren, Henrik H; Mpindi, John-Patrick JP; Eldfors, Samuli S; Brück, Oscar O; Aittokallio, Tero T; Kallioniemi, Olli O
Publication Date: 2016-07-04

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PubMed Link: 27378269
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  • 12885_2016_2452_MOESM9_ESM.xlsx, sheet 1
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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
Publication Date: 2016-10

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PubMed Link: 27171515
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Tighter Control by Chymotrypsin C (CTRC) Explains Lack of Association between Human Anionic Trypsinogen and Hereditary Pancreatitis.

The Journal Of Biological Chemistry
Jancsó, Zsanett Z; Sahin-Tóth, Miklós M
Publication Date: 2016-06-17

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PubMed Link: 27129265
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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
Publication Date: 2015-09

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PubMed Link: 26376395
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Framework for interpretation of trypsin-antitrypsin imbalance and genetic heterogeneity in pancreatitis.

Saudi Journal Of Gastroenterology : Official Journal Of The Saudi Gastroenterology Association
Lin, Kun K; Gao, Feng F; Chen, Qingquan Q; Liu, Qicai Q; Chen, Shu S
Publication Date: 2015

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PubMed Link: 26228362
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  • SJG-21-198.pdf
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