Condition: Hereditary pancreatitis


rs1800076 in CFTR gene and Hereditary pancreatitis PMID 20977904 2011 Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis.

rs121909293 in CTRC gene and Hereditary pancreatitis PMID 22942235 2013 Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.

PMID 22580415 2013 Comprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variants.

PMID 19453252 2009 Chronic pancreatitis: genetics and pathogenesis.

PMID 22427236 2013 CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?

PMID 25569187 2015 The Common Chymotrypsinogen C (CTRC) Variant G60G (C.180T) Increases Risk of Chronic Pancreatitis But Not Recurrent Acute Pancreatitis in a North American Population.

PMID 18059268 2008 Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.

PMID 18172691 2008 Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis.

PMID 20625975 2011 "Multifactorial genesis of pancreatitis in primary hyperparathyroidism: evidence for ""protective"" (PRSS2) and ""destructive"" (CTRC) genetic factors."

rs111033564 in PRSS1 gene and Hereditary pancreatitis PMID 11788572 2002 Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis.

PMID 10204851 1999 Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis.

PMID 10381903 1999 A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis.

PMID 10930381 2000 Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation.

PMID 11866271 2002 Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variants.

PMID 11073545 2000 A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis.

PMID 9633818 1998 Mutations of the cationic trypsinogen in hereditary pancreatitis.

PMID 14695529 2004 To challenge this notion, here we describe the unique properties of the E79K cationic trypsinogen mutation (c.235G>A), which was identified in three European families affected by sporadic or familial pancreatitis cases.

PMID 8841182 1996 Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.

PMID 9322498 1997 Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis.

PMID 15776435 2005 Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl.

PMID 11748242 2002 Human cationic trypsinogen. Arg(117) is the reactive site of an inhibitory surface loop that controls spontaneous zymogen activation.

PMID 19453252 2009 Chronic pancreatitis: genetics and pathogenesis.

PMID 11097832 2000 Gain-of-function mutations associated with hereditary pancreatitis enhance autoactivation of human cationic trypsinogen.

PMID 18755888 2009 The natural history of hereditary pancreatitis: a national series.

PMID 15028953 2004 Based on these findings, we revised the criteria for the diagnosis of HP; (1) recurrent acute or chronic pancreatitis with R122H or N29I mutation of the CT gene, or (2) recurrent acute or chronic pancreatitis with a family history of 2 or more affected patients, irrespective of generation, with at least 1 of the patients having no known etiological factors, and in case of siblings only, the onset of the disease in at least 1 of the patients is under age 40 years.

PMID 21415673 2011 High incidence of PRSS1 and SPINK1 mutations in Korean children with acute recurrent and chronic pancreatitis.

PMID 11788572 2002 Hereditary pancreatitis (HP) is usually caused by mutations in the cationic trypsinogen (PRSS1) gene, especially R122H or N29I.

PMID 14695529 2004 Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2).

PMID 24002981 2013 Comprehensive screening for PRSS1, SPINK1, CFTR, CTRC and CLDN2 gene mutations in Chinese paediatric patients with idiopathic chronic pancreatitis: a cohort study.

PMID 11097832 2000 Here we demonstrate that the two most frequent HP mutations, Arg117 --> His and Asn21 --> Ile, significantly enhance autoactivation of human cationic trypsinogen in vitro, in a manner that correlates with the severity of clinical symptoms in HP.

PMID 22539344 2012 We found that in the presence of CTRC, trypsinogen mutants associated with classic hereditary pancreatitis (N29I, N29T, V39A, R122C, and R122H) autoactivated at increased rates and reached markedly higher active trypsin levels compared with wild-type cationic trypsinogen.

PMID 10872414 2000 Risk factors for cancer in hereditary pancreatitis. International Hereditary Pancreatitis Study Group.

PMID 16632094 2006 Biochemical models of hereditary pancreatitis.

PMID 10801865 2000 Instead, an increased propensity to autoactivation under acidic conditions might be relevant to the pathomechanism of the Asn-21 --> Ile mutation in hereditary pancreatitis.

PMID 25383785 2015 One-third (34%) of patients with ARP carry mutations for hereditary pancreatitis including rare mutations (K23R), and 12.5% have evidence of cftr mutations and 10% had CFTR dysfunction underscoring the importance of genetic and functional workup of these patients.

PMID 16036133 2005 Expression of mutated cationic trypsinogen reduces cellular viability in AR4-2J cells.

PMID 23601753 2013 We conclude that D19A, D22G, K23R and K23_I24insIDK form a mechanistically distinct subset of hereditary pancreatitis-associated mutations that exert their effect primarily through direct stimulation of autoactivation, independently of CTRC.

PMID 30420730 2018 SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis.

PMID 17568390 2007 Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.

PMID 22539344 2012 We found that in the presence of CTRC, trypsinogen mutants associated with classic hereditary pancreatitis (N29I, N29T, V39A, R122C, and R122H) autoactivated at increased rates and reached markedly higher active trypsin levels compared with wild-type cationic trypsinogen.

PMID 17204147 2007 Hereditary chronic pancreatitis.

PMID 16954950 2006 Analysis of CFTR, SPINK1, PRSS1 and AAT mutations in children with acute or chronic pancreatitis.

PMID 19454815 2009 Hereditary pancreatitis: clinical features and inheritance characteristics of the R122C mutation in the cationic trypsinogen gene (PRSS1) in six Spanish families.

PMID 24458023 2014 Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis.

PMID 18272034 2008 Novel mutation and polymorphism of PRSS1 gene in the Chinese patients with hereditary pancreatitis and chronic pancreatitis.

PMID 11719509 2002 Here we report a family with hereditary pancreatitis that carries a novel PRSS1 mutation (R122C).

PMID 11734061 2001 Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography.

PMID 16791840 2006 Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis.

PMID 24780743 2015 The PRSS1 c.623G>C (p.G208A) mutation is the most common PRSS1 mutation in Korean children with hereditary pancreatitis.

PMID 23455445 2014 Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis.

PMID 17003641 2006 Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis.

PMID 24413785 2014 Chronic pancreatitis associated with the p.G208A variant of PRSS1 gene in a European patient.

PMID 23686146 2014 PRSS1 c.623G>C (p.G208A) variant is associated with pancreatitis in Japan.

PMID 22539344 2012 Increased activation of hereditary pancreatitis-associated human cationic trypsinogen mutants in presence of chymotrypsin C.

PMID 22749696 2012 Genetics and pathogenesis of chronic pancreatitis: the 2012 update.

PMID 19951905 2010 Ten families with p.A16V mutations were identified (22 affected individuals): six HP families, three with idiopathic disease and one with only a single generation affected.

PMID 20502448 2010 Among HP patients, no p.N29I mutations were found and the p.A16V mutation was more frequent than previously reported, 45 and 32% had exocrine and endocrine insufficiency, respectively, and among tIP patients 9 and 12%, respectively.

PMID 10381903 1999 Heterozygosity for the A16V mutation is strongly associated with CP.

PMID 21907651 2012 An overview of hereditary pancreatitis.

PMID 16505482 2006 Chymotrypsin C (caldecrin) stimulates autoactivation of human cationic trypsinogen.

PMID 11260229 2001 Among the known PRSS1 mutations, only the R122H was detected in a single subject and the A16V in two subjects in the cohort, strengthening that HP-associated PRSS1 mutations are rare in ICP.

PMID 15017610 2004 Clinical and genetic characteristics of hereditary pancreatitis in Europe.

PMID 11866271 2002 The mutation R122H of the cationic trypsinogen was found in 21 index patients, N291 in six index patients, and A16V and D22G in one index patient, all from HP families.

PMID 11866271 2002 The mutation R122H of the cationic trypsinogen was found in 21 index patients, N291 in six index patients, and A16V and D22G in one index patient, all from HP families.

PMID 11788572 2002 Hereditary pancreatitis (HP) is usually caused by mutations in the cationic trypsinogen (PRSS1) gene, especially R122H or N29I.

rs104893939 in SPINK1 gene and Hereditary pancreatitis PMID 10835640 2000 Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.

PMID 10691414 2000 Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis.

PMID 18617776 2008 The SPINK1 N34S variant is associated with acute pancreatitis.

PMID 12974284 2003 Gene symbol: Spink1-Omim 167790. Disease: Hereditary pancreatitis.

PMID 19888199 2010 SPINK1 N34S is strongly associated with recurrent acute pancreatitis but is not a risk factor for the first or sentinel acute pancreatitis event.

PMID 16849362 2006 [-215G>A; IVS3+2T>C] mutation in the SPINK1 gene causes exon 3 skipping and loss of the trypsin binding site.

PMID 18978175 2009 Minigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis.

PMID 26632706 2015 Serine Protease Inhibitor Kazal Type 1 (SPINK1) c.194+2T > C Mutation May Predict Long-term Outcome of Endoscopic Treatments in Idiopathic Chronic Pancreatitis.

PMID 23017645 2013 The contribution of the SPINK1 c.194+2T>C mutation to the clinical course of idiopathic chronic pancreatitis in Chinese patients.

PMID 15980664 2005 Mutations in the serine protease inhibitor Kazal Type 1 (SPINK1) gene in Japanese patients with pancreatitis.

PMID 23741238 2013 Two cases of chronic pancreatitis associated with anomalous pancreaticobiliary ductal union and SPINK1 mutation.

PMID 28546062 2017 Meta-analysis of the impact of SPINK1 p.N34S gene variation in Caucasic patients with chronic pancreatitis. An update.

PMID 17568390 2007 Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.

PMID 12483248 2002 Functional analysis of recombinant pancreatic secretory trypsin inhibitor protein with amino-acid substitution.

PMID 28984793 2018 SPINK1 Gene is Significantly Associated With Pancreatitis: A Comprehensive Meta-Analysis.

PMID 17466744 2007 Chronic pancreatitis: challenges and advances in pathogenesis, genetics, diagnosis, and therapy.

PMID 18414673 2008 Pathways to injury in chronic pancreatitis: decoding the role of the high-risk SPINK1 N34S haplotype using meta-analysis.

PMID 28556356 2017 Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype.

PMID 17525091 2007 Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation.

PMID 23951356 2013 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.

PMID 19299380 2009 The true culprit within the SPINK1 p.N34S-containing haplotype is still at large.

PMID 14722925 2004 Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis.

PMID 22572128 2012 Whole exome sequencing identifies multiple, complex etiologies in an idiopathic hereditary pancreatitis kindred.