Variant ID: 7-142459789-G-A

NM_002769.4(PRSS1):c.365G>A;(p.Arg122His)

This variant was identified in 159 publications




Publications:


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

Genes
K Wertheim-Tysarowska, G Oracz, AM Rygiel
Publication Date: 2021-05-20

Variant appearance in text: PRSS1: Arg122His
PubMed Link: 34065437
Variant Present in the following documents:
  • Main text
View BVdb publication page



An Autopsy Case of Anaplastic Carcinoma of the Pancreas in a 39-Year-Old Woman that Developed from Hereditary Pancreatitis.

The American Journal Of Case Reports
S Ota, G Tanke, S Asai, R Ito, K Hara, Y Takada, K Adachi, Y Shimada, M Hayashi, T Itani, M Ishihara, A Masamune
Publication Date: 2021-02-15

Variant appearance in text: PRSS1: R122H
PubMed Link: 33587725
Variant Present in the following documents:
  • Main text
View BVdb publication page



Acute Pancreatitis: Genetic Risk and Clinical Implications.

Journal Of Clinical Medicine
FU Weiss, F Laemmerhirt, MM Lerch
Publication Date: 2021-01-07

Variant appearance in text: PRSS1: R122H
PubMed Link: 33430357
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)
M Suzuki, K Minowa, S Nakano, H Isayama, T Shimizu
Publication Date: 2020-12-26

Variant appearance in text: PRSS1: R122H
PubMed Link: 33375361
Variant Present in the following documents:
  • Main text
View BVdb publication page



Turkish Gastroenterology Association, Pancreas Study Group, Chronic Pancreatitis Committee Consensus Report.

The Turkish Journal Of Gastroenterology : The Official Journal Of Turkish Society Of Gastroenterology
M Soytürk, G Bengi, D Oğuz, İH Kalkan, M Yalnız, M Tahtacı, K Demir, E Kasap, N Oruç, NG Ünal, O Sezgin, O Özdoğan, E Altıntaş, S Yaraş, E Parlak, AŞ Köksal, M Saruç, H Ünal, B Ünsal, S Günay, D Duman, A Yurçi, S Kacar, L Filik
Publication Date: 2020-11

Variant appearance in text: PRSS1: R122H
PubMed Link: 33210608
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hereditary pancreatitis model by blastocyst complementation in mouse.

Oncotarget
A Asai, M Konno, K Kawamoto, A Isotani, M Mori, H Eguchi, Y Doki, T Arai, H Ishii
Publication Date: 2020-06-02

Variant appearance in text: PRSS1: R122H
PubMed Link: 32547704
Variant Present in the following documents:
  • oncotarget-11-2061.pdf
  • Main text
View BVdb publication page



Pancreaticopleural fistula in children with chronic pancreatitis: a case report and literature review.

Bmc Pediatrics
JY Zhang, ZH Deng, B Gong
Publication Date: 2020-06-03

Variant appearance in text: PRSS1: R122H
PubMed Link: 32493299
Variant Present in the following documents:
  • Main text
  • 12887_2020_Article_2174.pdf
View BVdb publication page



Genomic loci susceptible to systematic sequencing bias in clinical whole genomes.

Genome Research
TM Freeman, , D Wang, J Harris
Publication Date: 2020-03

Variant appearance in text: rs111033565
PubMed Link: 32156711
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Endoscopic Management of Pancreaticopleural Fistula in a Child with Hereditary Pancreatitis.

Pediatric Gastroenterology, Hepatology & Nutrition
D Lee, EJ Lee, JW Kim, JS Moon, YT Kim, JS Ko
Publication Date: 2019-11

Variant appearance in text: PRSS1: R122H
PubMed Link: 31777728
Variant Present in the following documents:
  • pghn-22-601.pdf
  • Main text
View BVdb publication page



Response to Liu et al.

Clinical And Translational Gastroenterology
MO Goodarzi, DC Whitcomb
Publication Date: 2019-11

Variant appearance in text: PRSS1: R122H
PubMed Link: 31770141
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation That Promotes Activation of Trypsinogen Increases Severity of Secretagogue-Induced Pancreatitis in Mice.

Gastroenterology
Z Jancsó, M Sahin-Tóth
Publication Date: 2020-03

Variant appearance in text: PRSS1: R122H
PubMed Link: 31751559
Variant Present in the following documents:
  • Main text
View BVdb publication page



Barriers and Research Priorities for Implementing Precision Medicine.

Pancreas
DC Whitcomb
Publication Date: 2019

Variant appearance in text: PRSS1: R122H
PubMed Link: 31688586
Variant Present in the following documents:
  • Main text
View BVdb publication page



Trypsin activity governs increased susceptibility to pancreatitis in mice expressing human PRSS1R122H.

The Journal Of Clinical Investigation
F Gui, Y Zhang, J Wan, X Zhan, Y Yao, Y Li, AN Haddock, J Shi, J Guo, J Chen, X Zhu, BH Edenfield, L Zhuang, C Hu, Y Wang, D Mukhopadhyay, ES Radisky, L Zhang, A Lugea, SJ Pandol, Y Bi, B Ji
Publication Date: 2020-01-02

Variant appearance in text: PRSS1: R122H
PubMed Link: 31550238
Variant Present in the following documents:
  • Main text
  • jci-130-130172.pdf
View BVdb publication page



Transgenic Expression of PRSS1R122H Sensitizes Mice to Pancreatitis.

Gastroenterology
H Huang, AK Swidnicka-Siergiejko, J Daniluk, S Gaiser, Y Yao, L Peng, Y Zhang, Y Liu, M Dong, X Zhan, H Wang, Y Bi, Z Li, B Ji, CD Logsdon
Publication Date: 2020-03

Variant appearance in text: PRSS1: R122H
PubMed Link: 31419436
Variant Present in the following documents:
  • Main text
View BVdb publication page



Elastase 3B mutation links to familial pancreatitis with diabetes and pancreatic adenocarcinoma.

The Journal Of Clinical Investigation
PC Moore, JT Cortez, CE Chamberlain, D Alba, AC Berger, Z Quandt, A Chan, MH Cheng, JL Bautista, J Peng, MS German, MS Anderson, SA Oakes
Publication Date: 2019-08-01

Variant appearance in text: PRSS1: R122H
PubMed Link: 31369399
Variant Present in the following documents:
  • jci-129-129961.pdf
  • jci-129-129961-s023.pdf
View BVdb publication page



Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets.

Nature Communications
F Newell, Y Kong, JS Wilmott, PA Johansson, PM Ferguson, C Cui, Z Li, SH Kazakoff, H Burke, TJ Dodds, AM Patch, K Nones, V Tembe, P Shang, L van der Weyden, K Wong, O Holmes, S Lo, C Leonard, S Wood, Q Xu, RV Rawson, P Mukhopadhyay, R Dummer, MP Levesque, G Jönsson, X Wang, I Yeh, H Wu, N Joseph, BC Bastian, GV Long, AJ Spillane, KF Shannon, JF Thompson, RPM Saw, DJ Adams, L Si, JV Pearson, NK Hayward, N Waddell, GJ Mann, J Guo, RA Scolyer
Publication Date: 2019-07-18

Variant appearance in text: rs111033565
PubMed Link: 31320640
Variant Present in the following documents:
  • 41467_2019_11107_MOESM6_ESM.xlsx
View BVdb publication page



Patient-derived pancreas-on-a-chip to model cystic fibrosis-related disorders.

Nature Communications
K Shik Mun, K Arora, Y Huang, F Yang, S Yarlagadda, Y Ramananda, M Abu-El-Haija, JJ Palermo, BN Appakalai, JD Nathan, AP Naren
Publication Date: 2019-07-16

Variant appearance in text: PRSS1: R122H
PubMed Link: 31311920
Variant Present in the following documents:
  • 41467_2019_11178_MOESM1_ESM.pdf
View BVdb publication page



Animal Models: Challenges and Opportunities to Determine Optimal Experimental Models of Pancreatitis and Pancreatic Cancer.

Pancreas
JL Saloman, KM Albers, Z Cruz-Monserrate, BM Davis, M Edderkaoui, G Eibl, AY Epouhe, JY Gedeon, FS Gorelick, PJ Grippo, GE Groblewski, SZ Husain, KKY Lai, SJ Pandol, A Uc, L Wen, DC Whitcomb
Publication Date: 2019-07

Variant appearance in text: PRSS1: R122H
PubMed Link: 31206467
Variant Present in the following documents:
  • nihms-1528064.pdf
View BVdb publication page



Etiology and Risk Factors of Acute and Chronic Pancreatitis.

Visceral Medicine
FU Weiss, F Laemmerhirt, MM Lerch
Publication Date: 2019-04

Variant appearance in text: PRSS1: R122H
PubMed Link: 31192240
Variant Present in the following documents:
  • Main text
  • vis-0035-0073.pdf
View BVdb publication page



Risk Factors for Rapid Progression From Acute Recurrent to Chronic Pancreatitis in Children: Report From INSPPIRE.

Journal Of Pediatric Gastroenterology And Nutrition
QY Liu, M Abu-El-Haija, SZ Husain, B Barth, M Bellin, DS Fishman, SD Freedman, CE Gariepy, MJ Giefer, T Gonska, MB Heyman, R Himes, TK Lin, A Maqbool, M Mascarenhas, BA McFerron, VD Morinville, JD Nathan, CY Ooi, ER Perito, JF Pohl, S Rhee, SJ Schwarzenberg, U Shah, D Troendle, SL Werlin, M Wilschanski, MB Zimmerman, ME Lowe, A Uc
Publication Date: 2019-08

Variant appearance in text: PRSS1: 365G>A; R122H
PubMed Link: 31136562
Variant Present in the following documents:
  • nihms-1535212.pdf
  • NIHMS1535212-supplement-Suppl_Table_2.docx
  • Main text
View BVdb publication page



Elevated intracellular trypsin exacerbates acute pancreatitis and chronic pancreatitis in mice.

American Journal Of Physiology. Gastrointestinal And Liver Physiology
X Zhan, J Wan, G Zhang, L Song, F Gui, Y Zhang, Y Li, J Guo, RK Dawra, AK Saluja, AN Haddock, L Zhang, Y Bi, B Ji
Publication Date: 2019-06-01

Variant appearance in text: PRSS1: R122H
PubMed Link: 30943050
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel Pathogenic PRSS1 Variant p.Glu190Lys in a Case of Chronic Pancreatitis.

Frontiers In Genetics
Z Jancsó, G Oracz, AA Kujko, E Kolodziejczyk, ES Radisky, AM Rygiel, M Sahin-Tóth
Publication Date: 2019

Variant appearance in text: PRSS1: Arg122His
PubMed Link: 30792736
Variant Present in the following documents:
  • Main text
View BVdb publication page



Protease-Sensitive Pancreatic Lipase Variants Are Associated With Early Onset Chronic Pancreatitis.

The American Journal Of Gastroenterology
D Lasher, A Szabó, A Masamune, JM Chen, X Xiao, DC Whitcomb, MM Barmada, M Ewers, C Ruffert, S Paliwal, P Issarapu, S Bhaskar, KR Mani, GR Chandak, H Laumen, E Masson, K Kume, S Hamada, E Nakano, K Seltsam, P Bugert, T Müller, DA Groneberg, T Shimosegawa, J Rosendahl, C Férec, ME Lowe, H Witt, M Sahin-Tóth
Publication Date: 2019-06

Variant appearance in text: PRSS1: R122H
PubMed Link: 30789418
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pancreatitis in Children.

Gastroenterology
A Uc, SZ Husain
Publication Date: 2019-05

Variant appearance in text: PRSS1: R122H
PubMed Link: 30716320
Variant Present in the following documents:
  • Main text
  • nihms-1526871.pdf
View BVdb publication page



Genomic Features and Clinical Management of Patients with Hereditary Pancreatic Cancer Syndromes and Familial Pancreatic Cancer.

International Journal Of Molecular Sciences
A Ohmoto, S Yachida, C Morizane
Publication Date: 2019-01-29

Variant appearance in text: PRSS1: R122H
PubMed Link: 30699894
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics, Cell Biology, and Pathophysiology of Pancreatitis.

Gastroenterology
J Mayerle, M Sendler, E Hegyi, G Beyer, MM Lerch, M Sahin-Tóth
Publication Date: 2019-05

Variant appearance in text: PRSS1: R122H
PubMed Link: 30660731
Variant Present in the following documents:
  • NIHMS1060474-supplement-Supplementary_Table_1.pdf
  • Main text
View BVdb publication page



A preclinical model of chronic pancreatitis driven by trypsinogen autoactivation.

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

Variant appearance in text: PRSS1: R122H
PubMed Link: 30487519
Variant Present in the following documents:
  • Main text
View BVdb publication page



SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis.

Clinical And Translational Gastroenterology
WB Zou, XY Tang, DZ Zhou, YY Qian, LH Hu, FF Yu, D Yu, H Wu, SJ Deng, JH Lin, AJ Zhao, ZH Zhao, HY Wu, JH Zhu, W Qian, L Wang, L Xin, MJ Wang, LJ Wang, X Fang, L He, E Masson, DN Cooper, C Férec, ZS Li, JM Chen, Z Liao
Publication Date: 2018-11-12

Variant appearance in text: PRSS1: 365G>A; Arg122His
PubMed Link: 30420730
Variant Present in the following documents:
  • 41424_2018_69_MOESM1_ESM.docx
  • Main text
View BVdb publication page



Prevalence of abnormal glucose metabolism in pediatric acute, acute recurrent and chronic pancreatitis.

Plos One
M Abu-El-Haija, L Hornung, LA Denson, A Husami, TK Lin, K Matlock, JD Nathan, JJ Palermo, T Thompson, CA Valencia, X Wang, J Woo, K Zhang, D Elder
Publication Date: 2018

Variant appearance in text: PRSS1: R122H
PubMed Link: 30379828
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Current Genomics
N Sikdar, G Saha, A Dutta, S Ghosh, SV Shrikhande, S Banerjee
Publication Date: 2018-09

Variant appearance in text: PRSS1: R122H
PubMed Link: 30258276
Variant Present in the following documents:
  • Main text
View BVdb publication page



Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis.

Molecular Medicine (Cambridge, Mass.)
VM Sofia, C Surace, V Terlizzi, L Da Sacco, F Alghisi, A Angiolillo, C Braggion, N Cirilli, C Colombo, A Di Lullo, R Padoan, S Quattrucci, V Raia, G Tuccio, F Zarrilli, AC Tomaiuolo, A Novelli, V Lucidi, M Lucarelli, G Castaldo, A Angioni
Publication Date: 2018-07-27

Variant appearance in text: PRSS1: R122H
PubMed Link: 30134826
Variant Present in the following documents:
  • Main text
View BVdb publication page



Acute pancreatitis in children.

Przeglad Gastroenterologiczny
U Grzybowska-Chlebowczyk, M Jasielska, A Flak-Wancerz, S Więcek, K Gruszczyńska, W Chlebowczyk, H Woś
Publication Date: 2018

Variant appearance in text: PRSS1: R122H
PubMed Link: 29657614
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bach2 repression mediates Th17 cell induced inflammation and associates with clinical features of advanced disease in chronic pancreatitis.

United European Gastroenterology Journal
M Sasikala, VV Ravikanth, K Murali Manohar, N Deshpande, S Singh, P Pavan Kumar, R Talukdar, S Ghosh, M Aslam, GV Rao, R Pradeep, DN Reddy
Publication Date: 2018-03

Variant appearance in text: PRSS1: R122H
PubMed Link: 29511557
Variant Present in the following documents:
  • Supplementary_Data.pdf
View BVdb publication page



Early Diagnosis to Improve the Poor Prognosis of Pancreatic Cancer.

Cancers
M Kikuyama, T Kamisawa, S Kuruma, K Chiba, S Kawaguchi, S Terada, T Satoh
Publication Date: 2018-02-11

Variant appearance in text: PRSS1: R122H
PubMed Link: 29439461
Variant Present in the following documents:
  • Main text
View BVdb publication page



Metal stents placement for refractory pancreatic duct stricture in children.

World Journal Of Gastroenterology
IS Jeong, SH Lee, SH Oh, DH Park, KM Kim
Publication Date: 2018-01-21

Variant appearance in text: PRSS1: Arg122His
PubMed Link: 29391763
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Differential Role of Human Cationic Trypsinogen (PRSS1) p.R122H Mutation in Hereditary and Nonhereditary Chronic Pancreatitis: A Systematic Review and Meta-Analysis.

Gastroenterology Research And Practice
C Hu, L Wen, L Deng, C Zhang, A Lugea, HY Su, RT Waldron, SJ Pandol, Q Xia
Publication Date: 2017

Variant appearance in text: PRSS1: R122H
PubMed Link: 29118810
Variant Present in the following documents:
  • Main text
View BVdb publication page



Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene.

Human Mutation
T Venet, E Masson, C Talbotec, K Billiemaz, R Touraine, C Gay, S Destombe, DN Cooper, H Patural, JM Chen, C Férec
Publication Date: 2017-12

Variant appearance in text: PRSS1: R122H
PubMed Link: 28945313
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Integrated Genomic Characterization of Pancreatic Ductal Adenocarcinoma.

Cancer Cell
,
Publication Date: 2017-08-14

Variant appearance in text: PRSS1: R122H
PubMed Link: 28810144
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

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

Variant appearance in text: PRSS1: R122H
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
E Hegyi, M Sahin-Tóth
Publication Date: 2017-07

Variant appearance in text: PRSS1: R122H
PubMed Link: 28536777
Variant Present in the following documents:
  • Main text
View BVdb publication page



Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations.

The Journal Of Pediatrics
MJ Giefer, ME Lowe, SL Werlin, B Zimmerman, M Wilschanski, D Troendle, SJ Schwarzenberg, JF Pohl, J Palermo, CY Ooi, VD Morinville, TK Lin, SZ Husain, R Himes, MB Heyman, T Gonska, CE Gariepy, SD Freedman, DS Fishman, MD Bellin, B Barth, M Abu-El-Haija, A Uc
Publication Date: 2017-07

Variant appearance in text: PRSS1: R122H
PubMed Link: 28502372
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Background and Clinical Characters of Pediatric Chronic Pancreatitis: Data and Implications from the East.

Gastroenterology Research And Practice
M Liu, T Xia, D Zhang, L Hu, Z Liao, C Sun, Z Li
Publication Date: 2017

Variant appearance in text: PRSS1: 365G>A
PubMed Link: 28348582
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
JM Löhr, E Dominguez-Munoz, J Rosendahl, M Besselink, J Mayerle, MM Lerch, S Haas, F Akisik, N Kartalis, J Iglesias-Garcia, J Keller, M Boermeester, J Werner, JM Dumonceau, P Fockens, A Drewes, G Ceyhan, B Lindkvist, J Drenth, N Ewald, P Hardt, E de Madaria, H Witt, A Schneider, R Manfredi, FJ Brøndum, S Rudolf, T Bollen, M Bruno,
Publication Date: 2017-03

Variant appearance in text: PRSS1: R122H
PubMed Link: 28344786
Variant Present in the following documents:
  • Main text
View BVdb publication page



Insights into the genetic risk factors for the development of pancreatic disease.

Therapeutic Advances In Gastroenterology
Z Zator, DC Whitcomb
Publication Date: 2017-03

Variant appearance in text: PRSS1: R122H
PubMed Link: 28246549
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical aspects of pancreatogenic diabetes secondary to hereditary pancreatitis.

Diabetology & Metabolic Syndrome
MG Dytz, PA Marcelino, O de Castro Santos, L Zajdenverg, FL Conceição, TM Ortiga-Carvalho, M Rodacki
Publication Date: 2017

Variant appearance in text: PRSS1: R122H
PubMed Link: 28101143
Variant Present in the following documents:
  • Main text
View BVdb publication page



Causal Evaluation of Acute Recurrent and Chronic Pancreatitis in Children: Consensus From the INSPPIRE Group.

Journal Of Pediatric Gastroenterology And Nutrition
CE Gariepy, MB Heyman, ME Lowe, JF Pohl, SL Werlin, M Wilschanski, B Barth, DS Fishman, SD Freedman, MJ Giefer, T Gonska, R Himes, SZ Husain, VD Morinville, CY Ooi, SJ Schwarzenberg, DM Troendle, E Yen, A Uc
Publication Date: 2017-01

Variant appearance in text: PRSS1: R122H
PubMed Link: 27782962
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hereditary pancreatitis of 3 Chinese children: Case report and literature review.

Medicine
LN Dai, YW Chen, WH Yan, LN Lu, YJ Tao, W Cai
Publication Date: 2016-09

Variant appearance in text: PRSS1: R122H
PubMed Link: 27603351
Variant Present in the following documents:
  • Main text
View BVdb publication page



PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis.

Annals Of Laboratory Medicine
SM Cho, S Shin, KA Lee
Publication Date: 2016-11

Variant appearance in text: PRSS1: R122H
PubMed Link: 27578509
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hereditary pancreatitis: current perspectives.

Clinical And Experimental Gastroenterology
KL Raphael, FF Willingham
Publication Date: 2016

Variant appearance in text: PRSS1: R122H
PubMed Link: 27555793
Variant Present in the following documents:
  • Main text
View BVdb publication page



Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.

Molecular Medicine (Cambridge, Mass.)
VM Sofia, L Da Sacco, C Surace, AC Tomaiuolo, S Genovese, S Grotta, M Gnazzo, L Ciocca, S Petrocchi, F Alghisi, E Montemitro, L Martemucci, A Elce, V Lucidi, G Castaldo, A Angioni
Publication Date: 2016-09

Variant appearance in text: PRSS1: 365G>A; R122H
PubMed Link: 27264265
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genophenotypic Analysis of Pediatric Patients With Acute Recurrent and Chronic Pancreatitis.

Pancreas
JJ Palermo, TK Lin, L Hornung, CA Valencia, A Mathur, K Jackson, L Fei, M Abu-El-Haija
Publication Date: 2016-10

Variant appearance in text: PRSS1: R122H
PubMed Link: 27171515
Variant Present in the following documents:
  • Main text
  • NIHMS769712-supplement-Supplementary_Table_1.docx
View BVdb publication page



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

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

Variant appearance in text: PRSS1: R122H
PubMed Link: 27129265
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pathogenic cellular role of the p.L104P human cationic trypsinogen variant in chronic pancreatitis.

American Journal Of Physiology. Gastrointestinal And Liver Physiology
A Balázs, P Hegyi, M Sahin-Tóth
Publication Date: 2016-04-01

Variant appearance in text: PRSS1: R122H
PubMed Link: 26822915
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prognostic and predictive markers in pancreatic adenocarcinoma.

Digestive And Liver Disease : Official Journal Of The Italian Society Of Gastroenterology And The Italian Association For The Study Of The Liver
N Le, M Sund, A Vinci,
Publication Date: 2016-03

Variant appearance in text: PRSS1: R122H
PubMed Link: 26769569
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Chronic Pancreatitis and Pancreatic Cancer.

Gastrointestinal Tumors
X Kong, T Sun, F Kong, Y Du, Z Li
Publication Date: 2014-08

Variant appearance in text: PRSS1: R122H
PubMed Link: 26674754
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hereditary Pancreatitis Associated With the N29T Mutation of the PRSS1 Gene in a Brazilian Family: A Case-Control Study.

Medicine
MG Dytz, J Mendes de Melo, O de Castro Santos, ID da Silva Santos, M Rodacki, FL Conceição, TM Ortiga-Carvalho
Publication Date: 2015-09

Variant appearance in text: PRSS1: R122H
PubMed Link: 26376395
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variants in pancreatic carboxypeptidase genes CPA2 and CPB1 are not associated with chronic pancreatitis.

American Journal Of Physiology. Gastrointestinal And Liver Physiology
E Nakano, A Geisz, A Masamune, T Niihori, S Hamada, K Kume, Y Kakuta, Y Aoki, Y Matsubara, K Ebert, M Ludwig, M Braun, DA Groneberg, T Shimosegawa, M Sahin-Tóth, H Witt
Publication Date: 2015-10-15

Variant appearance in text: PRSS1: R122H
PubMed Link: 26316592
Variant Present in the following documents:
  • Main text
View BVdb publication page



Framework for interpretation of trypsin-antitrypsin imbalance and genetic heterogeneity in pancreatitis.

Saudi Journal Of Gastroenterology : Official Journal Of The Saudi Gastroenterology Association
K Lin, F Gao, Q Chen, Q Liu, S Chen
Publication Date: 2015

Variant appearance in text: PRSS1: R122H
PubMed Link: 26228362
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of cis-suppression of human disease mutations by comparative genomics.

Nature
DM Jordan, SG Frangakis, C Golzio, CA Cassa, J Kurtzberg, , EE Davis, SR Sunyaev, N Katsanis
Publication Date: 2015-08-13

Variant appearance in text: PRSS1: R122H
PubMed Link: 26123021
Variant Present in the following documents:
  • NIHMS707685-supplement-1.pdf
View BVdb publication page



Genetic mutations in SPINK1, CFTR, CTRC genes in acute pancreatitis.

Bmc Gastroenterology
D Koziel, S Gluszek, A Kowalik, M Chlopek, L Pieciak
Publication Date: 2015-06-23

Variant appearance in text: PRSS1: R122H
PubMed Link: 26100556
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional characteristics of L1156F-CFTR associated with alcoholic chronic pancreatitis in Japanese.

American Journal Of Physiology. Gastrointestinal And Liver Physiology
S Kondo, K Fujiki, SB Ko, A Yamamoto, M Nakakuki, Y Ito, N Shcheynikov, M Kitagawa, S Naruse, H Ishiguro
Publication Date: 2015-08-15

Variant appearance in text: PRSS1: 365G>A; Arg122His
PubMed Link: 26089335
Variant Present in the following documents:
  • Main text
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The genetic predisposition and its impact on the diabetes mellitus development in patients with alcoholic chronic pancreatitis.

Gastroenterology Research And Practice
A Madro, M Ciesielka, K Celinski, M Slomka, G Czechowska, J Kurzepa, B Kaszelan-Szczerbinska, G Buszewicz, R Madro
Publication Date: 2015

Variant appearance in text: PRSS1: R122H; rs111033565
PubMed Link: 25838820
Variant Present in the following documents:
  • Main text
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Mutation analysis of PRSS1, SPINK1 and CFTR gene in patients with alcoholic and idiopathic chronic pancreatitis: A single center study.

The Turkish Journal Of Gastroenterology : The Official Journal Of Turkish Society Of Gastroenterology
G Şişman, M Tuğcu, K Ayla, Ö Sebati, H Şentürk
Publication Date: 2015-03

Variant appearance in text: PRSS1: R122H
PubMed Link: 25835118
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Pediatric chronic pancreatitis is associated with genetic risk factors and substantial disease burden.

The Journal Of Pediatrics
SJ Schwarzenberg, M Bellin, SZ Husain, M Ahuja, B Barth, H Davis, PR Durie, DS Fishman, SD Freedman, CE Gariepy, MJ Giefer, T Gonska, MB Heyman, R Himes, S Kumar, VD Morinville, ME Lowe, NE Nuehring, CY Ooi, JF Pohl, D Troendle, SL Werlin, M Wilschanski, E Yen, A Uc
Publication Date: 2015-04

Variant appearance in text: PRSS1: R122H
PubMed Link: 25556020
Variant Present in the following documents:
  • Main text
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Gene conversion between cationic trypsinogen (PRSS1) and the pseudogene trypsinogen 6 (PRSS3P2) in patients with chronic pancreatitis.

Human Mutation
AM Rygiel, S Beer, P Simon, K Wertheim-Tysarowska, G Oracz, T Kucharzik, A Tysarowski, K Niepokój, J Kierkus, M Jurek, P Gawliński, J Poznański, J Bal, MM Lerch, M Sahin-Tóth, FU Weiss
Publication Date: 2015-03

Variant appearance in text: PRSS1: R122H
PubMed Link: 25546417
Variant Present in the following documents:
  • Main text
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Protein surface charge of trypsinogen changes its activation pattern.

Bmc Biotechnology
K Buettner, T Kreisig, N Sträter, T Zuchner
Publication Date: 2014-12-28

Variant appearance in text: PRSS1: R122H
PubMed Link: 25543846
Variant Present in the following documents:
  • Main text
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Genetic and phenotypic heterogeneity in tropical calcific pancreatitis.

World Journal Of Gastroenterology
S Paliwal, S Bhaskar, GR Chandak
Publication Date: 2014-12-14

Variant appearance in text: PRSS1: 365G>A; R122H
PubMed Link: 25516642
Variant Present in the following documents:
  • Main text
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Genetics of acute and chronic pancreatitis: An update.

World Journal Of Gastrointestinal Pathophysiology
V Ravi Kanth, D Nageshwar Reddy
Publication Date: 2014-11-15

Variant appearance in text: PRSS1: R122H
PubMed Link: 25400986
Variant Present in the following documents:
  • Main text
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Total pancreatectomy with islet cell autotransplantation as the initial treatment for minimal-change chronic pancreatitis.

Hpb : The Official Journal Of The International Hepato Pancreato Biliary Association
GC Wilson, JM Sutton, MT Smith, N Schmulewitz, M Salehi, KA Choe, JE Brunner, DE Abbott, JJ Sussman, SA Ahmad
Publication Date: 2015-03

Variant appearance in text: PRSS1: R122H
PubMed Link: 25297689
Variant Present in the following documents:
  • Main text
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Pathophysiology, classification and available guidelines of acute pancreatitis.

The Turkish Journal Of Gastroenterology : The Official Journal Of Turkish Society Of Gastroenterology
AT Ince, B Baysal
Publication Date: 2014-08

Variant appearance in text: PRSS1: R122H
PubMed Link: 25254514
Variant Present in the following documents:
  • Supplemental file
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Evaluating Adults With Idiopathic Pancreatitis for Genetic Predisposition: Higher Prevalence of Abnormal Results With Use of Complete Gene Sequencing.

Pancreas
DD Ballard, JR Flueckiger, EL Fogel, L McHenry, GA Lehman, JL Watkins, S Sherman, GA Coté
Publication Date: 2015-01

Variant appearance in text: PRSS1: 365G>A; R122H
PubMed Link: 25251442
Variant Present in the following documents:
  • NIHMS620112-supplement-Supplemental_Data_File__doc__pdf__etc__.docx
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Expression of human cationic trypsinogen (PRSS1) in murine acinar cells promotes pancreatitis and apoptotic cell death.

Cell Death & Disease
T Athwal, W Huang, R Mukherjee, D Latawiec, M Chvanov, R Clarke, K Smith, F Campbell, C Merriman, D Criddle, R Sutton, J Neoptolemos, N Vlatković
Publication Date: 2014-04-10

Variant appearance in text: PRSS1: R122H
PubMed Link: 24722290
Variant Present in the following documents:
  • Main text
  • cddis2014120x1.doc
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Mutations in PRSS1 put into perspective.

International Journal Of Medical Sciences
PG Sand
Publication Date: 2014

Variant appearance in text: PRSS1: R122H
PubMed Link: 24669198
Variant Present in the following documents:
  • Main text
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Long-term outcomes of total pancreatectomy and islet auto transplantation for hereditary/genetic pancreatitis.

Journal Of The American College Of Surgeons
S Chinnakotla, DM Radosevich, TB Dunn, MD Bellin, ML Freeman, SJ Schwarzenberg, AN Balamurugan, J Wilhelm, B Bland, SM Vickers, GJ Beilman, DE Sutherland, TL Pruett
Publication Date: 2014-04

Variant appearance in text: PRSS1: R122H
PubMed Link: 24655839
Variant Present in the following documents:
  • Main text
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Pancreatic cancer risk in hereditary pancreatitis.

Frontiers In Physiology
FU Weiss
Publication Date: 2014

Variant appearance in text: PRSS1: R122H
PubMed Link: 24600409
Variant Present in the following documents:
  • Main text
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The histopathology of PRSS1 hereditary pancreatitis.

The American Journal Of Surgical Pathology
AD Singhi, RK Pai, JA Kant, TL Bartholow, HJ Zeh, KK Lee, M Wijkstrom, D Yadav, R Bottino, RE Brand, JS Chennat, ME Lowe, GI Papachristou, A Slivka, DC Whitcomb, A Humar
Publication Date: 2014-03

Variant appearance in text: PRSS1: R122H
PubMed Link: 24525505
Variant Present in the following documents:
  • Main text
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Genetics of pancreatitis: the 2014 update.

The Tohoku Journal Of Experimental Medicine
A Masamune
Publication Date: 2014-02

Variant appearance in text: PRSS1: 365G>A; R122H
PubMed Link: 24522117
Variant Present in the following documents:
  • Supplemental file
  • Main text
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Risk factors for pancreatic cancer: underlying mechanisms and potential targets.

Frontiers In Physiology
T Kolodecik, C Shugrue, M Ashat, EC Thrower
Publication Date: 2013

Variant appearance in text: PRSS1: R122H
PubMed Link: 24474939
Variant Present in the following documents:
  • Main text
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Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis.

American Journal Of Physiology. Gastrointestinal And Liver Physiology
BC Németh, M Sahin-Tóth
Publication Date: 2014-03

Variant appearance in text: PRSS1: 365G>A; R122H
PubMed Link: 24458023
Variant Present in the following documents:
  • Main text
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Familial pancreatic cancer: genetic advances.

Genes & Development
AK Rustgi
Publication Date: 2014-01-01

Variant appearance in text: PRSS1: R122H
PubMed Link: 24395243
Variant Present in the following documents:
  • Main text
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Pathophysiology of chronic pancreatitis.

World Journal Of Gastroenterology
C Brock, LM Nielsen, D Lelic, AM Drewes
Publication Date: 2013-11-14

Variant appearance in text: PRSS1: R122H
PubMed Link: 24259953
Variant Present in the following documents:
  • Main text
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Comprehensive screening for PRSS1, SPINK1, CFTR, CTRC and CLDN2 gene mutations in Chinese paediatric patients with idiopathic chronic pancreatitis: a cohort study.

Bmj Open
W Wang, XT Sun, XL Weng, DZ Zhou, C Sun, T Xia, LH Hu, XW Lai, B Ye, MY Liu, F Jiang, J Gao, LM Bo, Y Liu, Z Liao, ZS Li
Publication Date: 2013-09-03

Variant appearance in text: PRSS1: 365G>A; R122H
PubMed Link: 24002981
Variant Present in the following documents:
  • Main text
  • bmjopen-2013-003150.draft_revisions.pdf
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Variants in CPA1 are strongly associated with early onset chronic pancreatitis.

Nature Genetics
H Witt, S Beer, J Rosendahl, JM Chen, GR Chandak, A Masamune, M Bence, R Szmola, G Oracz, M Macek, E Bhatia, S Steigenberger, D Lasher, F Bühler, C Delaporte, J Tebbing, M Ludwig, C Pilsak, K Saum, P Bugert, E Masson, S Paliwal, S Bhaskar, A Sobczynska-Tomaszewska, D Bak, I Balascak, G Choudhuri, D Nageshwar Reddy, GV Rao, V Thomas, K Kume, E Nakano, Y Kakuta, T Shimosegawa, L Durko, A Szabó, A Schnúr, P Hegyi, Z Rakonczay, R Pfützer, A Schneider, DA Groneberg, M Braun, H Schmidt, U Witt, H Friess, H Algül, O Landt, M Schuelke, R Krüger, B Wiedenmann, F Schmidt, KP Zimmer, P Kovacs, M Stumvoll, M Blüher, T Müller, A Janecke, N Teich, R Grützmann, HU Schulz, J Mössner, V Keim, M Löhr, C Férec, M Sahin-Tóth
Publication Date: 2013-10

Variant appearance in text: PRSS1: Arg122His
PubMed Link: 23955596
Variant Present in the following documents:
  • Main text
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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
E Masson, JM Chen, MP Audrézet, DN Cooper, C Férec
Publication Date: 2013

Variant appearance in text: PRSS1: R122H
PubMed Link: 23951356
Variant Present in the following documents:
  • Main text
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New insights into the pathogenesis of pancreatitis.

Current Opinion In Gastroenterology
RP Sah, RK Dawra, AK Saluja
Publication Date: 2013-09

Variant appearance in text: PRSS1: R122H
PubMed Link: 23892538
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000311737.7 c.365G>A p.Arg122His missense_variant 3/5 -
ENST00000463701.1 n.829G>A - non_coding_transcript_exon_variant 1/3 -
ENST00000485223.1 n.1363G>A - non_coding_transcript_exon_variant 2/2 -
ENST00000486171.1 c.407G>A p.Arg136His missense_variant 4/6 -
ENST00000492062.1 c.215G>A p.Arg72His missense_variant 2/4 -
NM_002769.5 c.365G>A p.Arg122His missense_variant 3/5 -