Functional effects of 13 rarePRSS1variants presumed to cause chronic pancreatitis
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Title
Functional effects of 13 rarePRSS1variants presumed to cause chronic pancreatitis
Authors
Keywords
-
Journal
GUT
Volume 63, Issue 2, Pages 337-343
Publisher
BMJ
Online
2013-03-02
DOI
10.1136/gutjnl-2012-304331
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Note: Only part of the references are listed.- Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk
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- Increased Activation of Hereditary Pancreatitis-associated Human Cationic Trypsinogen Mutants in Presence of Chymotrypsin C
- (2012) András Szabó et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis
- (2012) David C Whitcomb et al. NATURE GENETICS
- High Affinity Small Protein Inhibitors of Human Chymotrypsin C (CTRC) Selected by Phage Display Reveal Unusual Preference for P4′ Acidic Residues
- (2011) András Szabó et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- High Incidence of PRSS1 and SPINK1 Mutations in Korean Children With Acute Recurrent and Chronic Pancreatitis
- (2011) Yeoun Joo Lee et al. JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
- Genetic Prevalence and Characteristics in Children With Recurrent Pancreatitis
- (2011) Mutaz Sultan et al. JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
- New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis ?
- (2010) Vito D Corleto et al. BMC GASTROENTEROLOGY
- Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations
- (2010) R. Szmola et al. JOURNAL OF MEDICAL GENETICS
- Association and differential role of PRSS1 and SPINK1 mutation in early-onset and late-onset idiopathic chronic pancreatitis in Chinese subjects
- (2009) Y-T Chang et al. GUT
- Pancreatitis-associated chymotrypsinogen C (CTRC) mutant elicits endoplasmic reticulum stress in pancreatic acinar cells
- (2009) R. Szmola et al. GUT
- Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: A novel disease mechanism
- (2009) Éva Kereszturi et al. HUMAN MUTATION
- The natural history of hereditary pancreatitis: a national series
- (2008) V Rebours et al. GUT
- Trypsinogen Copy Number Mutations in Patients With Idiopathic Chronic Pancreatitis
- (2007) Emmanuelle Masson et al. Clinical Gastroenterology and Hepatology
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