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https://www.readbyqxmd.com/read/29669919/mutations-in-the-pancreatic-secretory-enzymes-cpa1-and-cpb1-are-associated-with-pancreatic-cancer
#1
Koji Tamura, Jun Yu, Tatsuo Hata, Masaya Suenaga, Koji Shindo, Toshiya Abe, Anne MacGregor-Das, Michael Borges, Christopher L Wolfgang, Matthew J Weiss, Jin He, Marcia Irene Canto, Gloria M Petersen, Steven Gallinger, Sapna Syngal, Randall E Brand, Anil Rustgi, Sara H Olson, Elena Stoffel, Michele L Cote, George Zogopoulos, James B Potash, Fernando S Goes, Richard W McCombie, Peter P Zandi, Mehdi Pirooznia, Melissa Kramer, Jennifer Parla, James R Eshleman, Nicholas J Roberts, Ralph H Hruban, Alison Patricia Klein, Michael Goggins
To evaluate whether germline variants in genes encoding pancreatic secretory enzymes contribute to pancreatic cancer susceptibility, we sequenced the coding regions of CPB1 and other genes encoding pancreatic secretory enzymes and known pancreatitis susceptibility genes ( PRSS1 , CPA1 , CTRC , and SPINK1 ) in a hospital series of pancreatic cancer cases and controls. Variants in CPB1 , CPA1 (encoding carboxypeptidase B1 and A1), and CTRC were evaluated in a second set of cases with familial pancreatic cancer and controls...
April 18, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29657614/acute-pancreatitis-in-children
#2
Urszula Grzybowska-Chlebowczyk, Martyna Jasielska, Anna Flak-Wancerz, Sabina Więcek, Katarzyna Gruszczyńska, Wojciech Chlebowczyk, Halina Woś
Introduction: The acute pancreatitis is a rare disease, but it has started to be diagnosed more often in children. Aim: The aim of the study was single-centre, retrospective analysis of the incidence, aetiology, and clinical course of acute pancreatitis in children. Material and methods: We analysed the medical records of patients with acute pancreatitis hospitalised in the Gastroenterology Unit of the Paediatrics Department, Medical University of Silesia from Jan 2004 to Dec 2013...
2018: Przegla̜d Gastroenterologiczny
https://www.readbyqxmd.com/read/29571661/whole-exome-sequencing-identifies-two-discrete-druggable-signaling-pathways-in-follicular-thyroid-cancer
#3
Neeta J Erinjeri, Norman G Nicolson, Christine Deyholos, Reju Korah, Tobias Carling
BACKGROUND: Thyroid cancer is the most common endocrine malignancy with continuously increasing incidence. Follicular thyroid cancer (FTC) accounts for approximately 10-15% of these cases and is known to be associated with several gene mutations. The purpose of this study was to identify novel therapeutic targets in FTC using whole-exome sequencing (WES) and bioinformatics analysis. STUDY DESIGN: Whole-exome sequencing was performed on six established FTC cell lines...
March 20, 2018: Journal of the American College of Surgeons
https://www.readbyqxmd.com/read/29517634/age-and-disease-duration-impact-outcomes-of-total-pancreatectomy-and-islet-autotransplant-for-prss1-hereditary-pancreatitis
#4
Melena D Bellin, Polina Prokhoda, James S Hodges, Sarah J Schwarzenberg, Martin L Freeman, Ty B Dunn, Joshua J Wilhelm, Timothy L Pruett, Varvara A Kirchner, Gregory J Beilman, Srinath Chinnakotla
OBJECTIVES: We investigated the impact of patient age and disease duration on islet isolation results, diabetes outcomes, and pain outcomes after total pancreatectomy with islet autotransplant (TPIAT) performed in 64 patients with hereditary pancreatitis due to PRSS1 gene mutation. METHODS: We evaluated the association of patient age and disease duration on islet isolation results and opioid use at 1 year using logistic regression and on graft function using 1-way analysis of variance...
April 2018: Pancreas
https://www.readbyqxmd.com/read/29476405/prss1-r122h-mutation-in-an-indian-family-with-low-penetrance-is-associated-with-pancreatitis-phenotype
#5
Urmila Steffie Avanthi, Govardhan Bale, Mohsin Aslam, Rupjyoti Talukdar, Nageshwar Reddy Duvvur, Ravikanth Venkata Vishnubhotla
Mutations in PRSS1 gene namely R122H and N29I cause hereditary pancreatitis. They are autosomal dominant with a high penetrance (80%) reported in North American, North-east Asian, and North European ethnicities. However, the mutations are reportedly absent in Indian, African, and South American ethnicities. We report here for the first time a family from India that is positive for R122H mutation in the PRSS1 gene. The proband is symptomatic with chronic pancreatitis, however, the father although heterozygous for R122H is asymptomatic...
January 2018: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
https://www.readbyqxmd.com/read/29215622/novel-prss1-mutation-p-p17t-validates-pathogenic-relevance-of-ctrc-mediated-processing-of-the-trypsinogen-activation-peptide-in-chronic-pancreatitis
#6
Balázs Csaba Németh, Ákos Szücs, Péter Hegyi, Miklós Sahin-Tóth
No abstract text is available yet for this article.
December 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/29173301/targeted-gene-next-generation-sequencing-in-chinese-children-with-chronic-pancreatitis-and-acute-recurrent-pancreatitis
#7
Yuan Xiao, Wentao Yuan, Bo Yu, Yan Guo, Xu Xu, Xinqiong Wang, Yi Yu, Yi Yu, Biao Gong, Chundi Xu
OBJECTIVE: To identify causal mutations in certain genes in children with acute recurrent pancreatitis (ARP) or chronic pancreatitis (CP). STUDY DESIGN: After patients were enrolled (CP, 55; ARP, 14) and their clinical characteristics were investigated, we performed next-generation sequencing to detect nucleotide variations among the following 10 genes: cationic trypsinogen protease serine 1 (PRSS1), serine protease inhibitor, Kazal type 1 (SPINK1), cystic fibrosis transmembrane conductance regulator gene (CFTR), chymotrypsin C (CTRC), calcium-sensing receptor (CASR), cathepsin B (CTSB), keratin 8 (KRT8), CLAUDIN 2 (CLDN2), carboxypeptidase A1 (CPA1), and ATPase type 8B member 1 (ATP8B1)...
December 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29154238/ctrc-gene-polymorphism-may-increase-pancreatic-cancer-risk-preliminary-study
#8
Stanisław Głuszek, Artur Kowalik, Dorota Kozieł, Iwona Wawrzycka, Martyna Głuszek-Osuch, Jarosław Matykiewicz
Pancreatic cancer is often fatal due to delayed diagnosis and treatment difficulties. OBJECTIVE: To analyze selected SPINK1, CTRC, CFTR, and PRSS1 gene mutations in cancer tissue and blood samples of patients with pancreatic tumors. MATERIALS AND METHOD: We enrolled 16 consecutive patients diagnosed with pancreatic tumors. We collected cancer tissue, normal pancreatic tissue, and blood samples for genetic tests. The control group consisted of 419 healthy individuals...
October 31, 2017: Polski Przeglad Chirurgiczny
https://www.readbyqxmd.com/read/29118810/the-differential-role-of-human-cationic-trypsinogen-prss1-p-r122h-mutation-in-hereditary-and-nonhereditary-chronic-pancreatitis-a-systematic-review-and-meta-analysis
#9
REVIEW
Cheng Hu, Li Wen, Lihui Deng, Chenlong Zhang, Aurelia Lugea, Hsin-Yuan Su, Richard T Waldron, Stephen J Pandol, Qing Xia
Background: Environmental factors and genetic mutations have been increasingly recognized as risk factors for chronic pancreatitis (CP). The PRSS1 p.R122H mutation was the first discovered to affect hereditary CP, with 80% penetrance. We performed here a systematic review and meta-analysis to evaluate the associations of PRSS1 p.R122H mutation with CP of diverse etiology. Methods: The PubMed, EMBASE, and MEDLINE database were reviewed. The pooled odds ratio (OR) with 95% confidence intervals was used to evaluate the association of p...
2017: Gastroenterology Research and Practice
https://www.readbyqxmd.com/read/28913878/do-pancreatic-cancer-and-chronic-pancreatitis-share-the-same-genetic-risk-factors-a-pancreatic-disease-research-pandora-consortium-investigation
#10
Daniele Campa, Manuela Pastore, Gabriele Capurso, Thilo Hackert, Milena Di Leo, Jakob R Izbicki, Kay-Tee Khaw, Domenica Gioffreda, Juozas Kupcinskas, Claudio Pasquali, Peter Macinga, Rudolf Kaaks, Serena Stigliano, Petra H Peeters, Timothy J Key, Renata Talar-Wojnarowska, Pavel Vodicka, Roberto Valente, Yogesh K Vashist, Roberto Salvia, Ioannis Papaconstantinou, Yasuhiro Shimizu, Chiara Valsuani, Carlo Federico Zambon, Maria Gazouli, Irena Valantiene, Willem Niesen, Beatrice Mohelnikova-Duchonova, Kazuo Hara, Pavel Soucek, Ewa Malecka-Panas, H B As Bueno-de-Mesquita, Theron Johnson, Herman Brenner, Francesca Tavano, Paola Fogar, Hidemi Ito, Cosimo Sperti, Katja Butterbach, Anna Latiano, Angelo Andriulli, Giulia Martina Cavestro, Olivier R C Busch, Frederike Dijk, William Greenhalf, Keitaro Matsuo, Carlo Lombardo, Oliver Strobel, Anna-Katharina König, Katarina Cuk, Hendrik Strothmann, Verena Katzke, Maurizio Cantore, Andrea Mambrini, Martin Oliverius, Raffaele Pezzilli, Stefano Landi, Federico Canzian
Pancreatic ductal adenocarcinoma (PDAC) is a very aggressive tumor with a five-year survival of less than 6%. Chronic pancreatitis (CP), an inflammatory process in of the pancreas, is a strong risk factor for PDAC. Several genetic polymorphisms have been discovered as susceptibility loci for both CP and PDAC. Since CP and PDAC share a consistent number of epidemiologic risk factors, the aim of this study was to investigate whether specific CP risk loci also contribute to PDAC susceptibility. We selected five common SNPs (rs11988997, rs379742, rs10273639, rs2995271 and rs12688220) that were identified as susceptibility markers for CP and analyzed them in 2,914 PDAC cases, 356 CP cases and 5,596 controls retrospectively collected in the context of the international PANDoRA consortium...
January 15, 2018: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28861620/nationwide-survey-of-hereditary-pancreatitis-in-japan
#11
Atsushi Masamune, Kazuhiro Kikuta, Shin Hamada, Eriko Nakano, Kiyoshi Kume, Ayano Inui, Toshiaki Shimizu, Yoshifumi Takeyama, Masaki Nio, Tooru Shimosegawa
BACKGROUND: Hereditary pancreatitis (HP) is a rare cause of chronic pancreatitis. We here report a nationwide survey to clarify the epidemiological, genetic, and clinical features of HP in Japan. METHODS: Target subjects were patients with HP and their family members who had visited selected hospitals between 2005 and 2014. This study consisted of two-stage surveys; patients with HP were identified by the first questionnaire and their clinical features were assessed by the second questionnaire...
January 2018: Journal of Gastroenterology
https://www.readbyqxmd.com/read/28754779/genome-wide-association-study-identifies-inversion-in-the-ctrb1-ctrb2-locus-to-modify-risk-for-alcoholic-and-non-alcoholic-chronic-pancreatitis
#12
Jonas Rosendahl, Holger Kirsten, Eszter Hegyi, Peter Kovacs, Frank Ulrich Weiss, Helmut Laumen, Peter Lichtner, Claudia Ruffert, Jian-Min Chen, Emmanuelle Masson, Sebastian Beer, Constantin Zimmer, Katharina Seltsam, Hana Algül, Florence Bühler, Marco J Bruno, Peter Bugert, Ralph Burkhardt, Giulia Martina Cavestro, Halina Cichoz-Lach, Antoni Farré, Josef Frank, Giovanni Gambaro, Sebastian Gimpfl, Harald Grallert, Heidi Griesmann, Robert Grützmann, Claus Hellerbrand, Péter Hegyi, Marcus Hollenbach, Sevastitia Iordache, Grazyna Jurkowska, Volker Keim, Falk Kiefer, Sebastian Krug, Olfert Landt, Milena Di Leo, Markus M Lerch, Philippe Lévy, Markus Löffler, Matthias Löhr, Maren Ludwig, Milan Macek, Nuria Malats, Ewa Malecka-Panas, Giovanni Malerba, Karl Mann, Julia Mayerle, Sonja Mohr, Rene H M Te Morsche, Marie Motyka, Sebastian Mueller, Thomas Müller, Markus M Nöthen, Sergio Pedrazzoli, Stephen P Pereira, Annette Peters, Roland Pfützer, Francisco X Real, Vinciane Rebours, Monika Ridinger, Marcella Rietschel, Eva Rösmann, Adrian Saftoiu, Alexander Schneider, Hans-Ulrich Schulz, Nicole Soranzo, Michael Soyka, Peter Simon, James Skipworth, Felix Stickel, Konstantin Strauch, Michael Stumvoll, Pier Alberto Testoni, Anke Tönjes, Lena Werner, Jens Werner, Norbert Wodarz, Martin Ziegler, Atsushi Masamune, Joachim Mössner, Claude Férec, Patrick Michl, Joost P H Drenth, Heiko Witt, Markus Scholz, Miklós Sahin-Tóth
OBJECTIVE: Alcohol-related pancreatitis is associated with a disproportionately large number of hospitalisations among GI disorders. Despite its clinical importance, genetic susceptibility to alcoholic chronic pancreatitis (CP) is poorly characterised. To identify risk genes for alcoholic CP and to evaluate their relevance in non-alcoholic CP, we performed a genome-wide association study and functional characterisation of a new pancreatitis locus. DESIGN: 1959 European alcoholic CP patients and population-based controls from the KORA, LIFE and INCIPE studies (n=4708) as well as chronic alcoholics from the GESGA consortium (n=1332) were screened with Illumina technology...
July 28, 2017: Gut
https://www.readbyqxmd.com/read/28731996/-pancreatitis-genes-and-islet-cells-auto-transplant-updates-and-new-horizons
#13
Edgardo D Rivera Rivera
Pancreatitis is an inflammation of the pancreas that can progress from an acute presentation to an acute recurring presentation and eventually to chronic pancreatitis, which is characterized by irreversible morphological changes and scarring of the pancreas. The entity known as hereditary pancreatitis has been recognized in the literature for years and certainly the discovery of the PRSS1 gene in 1996 marked the beginning of a new era of genetic discoveries associated with the disease. Since then, multiple genes have been described as the causing agents of pancreatitis or disease modifiers, some of the most important ones being the PRSS1, SPINK1, CFTR, CASR, CTRC, CLDN2, and CPA1...
April 2017: Revista de Gastroenterología del Perú: órgano Oficial de la Sociedad de Gastroenterología del Perú
https://www.readbyqxmd.com/read/28650851/genetic-risk-in-chronic-pancreatitis-the-misfolding-dependent-pathway
#14
Miklós Sahin-Tóth
PURPOSE OF REVIEW: Genetic risk in chronic pancreatitis is partly due to mutations that cause misfolding of digestive enzymes and elicit endoplasmic reticulum stress. This review examines recent developments in this concept. RECENT FINDINGS: The best characterized misfolding variants in the highly expressed digestive proteases cationic trypsinogen (PRSS1) and carboxypeptidase A1 (CPA1) are strong, causative risk factors for chronic pancreatitis and may be associated with autosomal dominant hereditary pancreatitis...
September 2017: Current Opinion in Gastroenterology
https://www.readbyqxmd.com/read/28536777/genetic-risk-in-chronic-pancreatitis-the-trypsin-dependent-pathway
#15
REVIEW
Eszter Hegyi, Miklós Sahin-Tóth
Genetic investigations have provided unique insight into the mechanism of chronic pancreatitis in humans and firmly established that uncontrolled trypsin activity is a central pathogenic factor. Mutations in the PRSS1, SPINK1, and CTRC genes promote increased activation of trypsinogen to trypsin by stimulation of autoactivation or by impairing protective trypsinogen degradation and/or trypsin inhibition. Here we review key genetic and biochemical features of the trypsin-dependent pathological pathway in chronic pancreatitis...
July 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28502372/early-onset-acute-recurrent-and-chronic-pancreatitis-is-associated-with-prss1-or-ctrc-gene-mutations
#16
Matthew J Giefer, Mark E Lowe, Steven L Werlin, Bridget Zimmerman, Michael Wilschanski, David Troendle, Sarah Jane Schwarzenberg, John F Pohl, Joseph Palermo, Chee Y Ooi, Veronique D Morinville, Tom K Lin, Sohail Z Husain, Ryan Himes, Melvin B Heyman, Tanja Gonska, Cheryl E Gariepy, Steven D Freedman, Douglas S Fishman, Melena D Bellin, Bradley Barth, Maisam Abu-El-Haija, Aliye Uc
OBJECTIVES: To assess whether the age of onset was associated with unique features or disease course in pediatric acute recurrent pancreatitis (ARP) or chronic pancreatitis (CP). STUDY DESIGN: Demographic and clinical information on children with ARP or CP was collected at INSPPIRE (INternational Study Group of Pediatric Pancreatitis: In Search for a CuRE) centers. The Cochran-Armitage trend test and Jonckheere-Terpstra test were used to examine for differences between pediatric age groups (<6, 6-11, and ≥12 years)...
July 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28454201/-identical-variants-different-disease-course-genetics-of-chronic%C3%A2-pancreatitis
#17
Sebastian Beer, Joachim Mössner
Multiple genetic associations with chronic pancreatitis have been identified. In cases with hereditary pancreatitis family history is reported and mostly distinct causative variants in cationic trypsinogen (PRSS1) are identified. Furthermore, variants in other genes of proteases and anti-proteases of the digestive enzyme cascade (SPINK1, CTRC, CPA1), are also associated with chronic pancreatitis. Interestingly, penetrance of associated variants as well as the disease course are variable. As such environmental factors like smoking may play an important role...
May 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28440306/an-evaluation-of-factors-associated-with-pathogenic-prss1-spink1-ctfr-and-or-ctrc-genetic-variants-in-patients-with-idiopathic-pancreatitis
#18
Niloofar Y Jalaly, Robert A Moran, Farshid Fargahi, Mouen A Khashab, Ayesha Kamal, Anne Marie Lennon, Christi Walsh, Martin A Makary, David C Whitcomb, Dhiraj Yadav, Liudmila Cebotaru, Vikesh K Singh
OBJECTIVES: We evaluated factors associated with pathogenic genetic variants in patients with idiopathic pancreatitis. METHODS: Genetic testing (PRSS1, CFTR, SPINK1, and CTRC) was performed in all eligible patients with idiopathic pancreatitis between 2010 to 2015. Patients were classified into the following groups based on a review of medical records: (1) acute recurrent idiopathic pancreatitis (ARIP) with or without underlying chronic pancreatitis; (2) idiopathic chronic pancreatitis (ICP) without a history of ARP; (3) an unexplained first episode of acute pancreatitis (AP)<35 years of age; and (4) family history of pancreatitis...
August 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28337383/pancreatic-cancer-screening-in-different-risk-individuals-with-family-history-of-pancreatic-cancer-a-prospective-cohort-study-in-taiwan
#19
Ming-Chu Chang, Chih-Horng Wu, Shih-Hung Yang, Po-Chin Liang, Bang-Bin Chen, I-Shiow Jan, Yu-Ting Chang, Yung-Ming Jeng
Pancreatic cancer (PC) is usually diagnosed at advanced stage. Our aim was to investigate the risk of malignant and premalignant pancreatic lesions in individuals with family history of PC. Individuals at risk of PC were enrolled prospectively in a screening program in Taiwan. All risk individuals received genetic testing of cationic trypsinogen (PRSS1) gene and the serine protease inhibitor Kazal type 1 (SPINK1) gene. They were stratified into three risk groups (high, moderate, and low) based on the family history and genetic testing...
2017: American Journal of Cancer Research
https://www.readbyqxmd.com/read/28320629/is-acute-recurrent-pancreatitis-in-children-a-precursor-of-chronic-pancreatitis-a-long-term-follow-up-study-of-93-cases
#20
Ujjal Poddar, Surender K Yachha, Vibhor Borkar, Anshu Srivastava
BACKGROUND/AIMS: In view of paucity of literature we analyzed our experience of acute recurrent pancreatitis (ARP) to study clinical profile and long-term outcome. METHODS: Over 13 years, 93 consecutive children (≤18 years) diagnosed to have ARP were included in this study. Magnetic resonance cholangiopancreatography was done at baseline and on follow-up. Common mutations for serine-protease-inhibitor (SPINK1 N34S), protease inhibitor (PRSS1 R122S) and cystic fibrosis transmembrane conductance regulator (CFTR deltaF508, 5T) were studied in 22 idiopathic cases...
July 2017: Digestive and Liver Disease
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