|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
BEFREE |
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.
|
22539344 |
2012 |
|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
BEFREE |
The first mutation was detected at the R122 autocleavage site of the protein (R122H) and subsequently two other mutations in this region, R122C and V123M, were described that resulted in a similar phenotype of hereditary pancreatitis.
|
18511571 |
2008 |
|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
BEFREE |
The commonly reported change of R122H (c.365 G > A) was not detected in any of the study subjects. c.361 G > A was found in 2 affected members and one unaffected carrier in an HP family.
|
18272034 |
2008 |
|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
BEFREE |
The R122H mutation represents the most common point mutation of the cationic trypsinogen gene (PRSS1) in patients with hereditary pancreatitis (HP; Online Mendelian inheritance in man [OMIM] 167800), a rare variety of chronic pancreatitis.
|
18702646 |
2008 |
|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
BEFREE |
A change in R122H in the third exon is one of the mutations most frequently associated with HP.
|
17613931 |
2007 |
|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
BEFREE |
The R122H mutation of the cationic trypsinogen was found in patients with hereditary pancreatitis.
|
17069643 |
2006 |
|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl.
|
15776435 |
2005 |
|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2).
|
14695529 |
2004 |
|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
BEFREE |
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.
|
15028953 |
2004 |
|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
BEFREE |
The R122H and N291 mutations of CT are the most common disease-associated mutations in HP; the N34S mutation of SPINK I is the most frequent genetic risk factor associated with IP.
|
11866271 |
2002 |
|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
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.
|
11866271 |
2002 |
|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Hereditary pancreatitis (HP) is usually caused by mutations in the cationic trypsinogen (PRSS1) gene, especially R122H or N29I.
|
11788572 |
2002 |
|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Hereditary pancreatitis (HP) is usually caused by mutations in the cationic trypsinogen (PRSS1) gene, especially R122H or N29I.
|
11788572 |
2002 |
|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
BEFREE |
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.
|
11260229 |
2001 |
|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Since the identification in 1996 of a "gain of function" missense mutation, R122H, in the cationic trypsinogen gene (PRSS1) as a cause of hereditary pancreatitis, continued screening of this gene in both hereditary and sporadic pancreatitis has found more disease-associated missense mutations than expected.
|
11702203 |
2001 |
|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Nine subjects had the N34S PSTI mutation and 1 had hereditary pancreatitis (R122H, PRSS1).
|
11729110 |
2001 |
|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
BEFREE |
The R122H mutation was detected in 1 patient with alcoholic chronic pancreatitis and all 3 affected members of a HP family.
|
11549837 |
2001 |
|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Disruption of this site by a missense mutation, R122H, was found to cause hereditary pancreatitis.
|
11734061 |
2001 |
|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
BEFREE |
One of the 16 families with HP a</span>nd an R122H mutation contained a polymorphism affecting the AflIII restriction site.
|
11156648 |
2001 |
|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
BEFREE |
An R122H mutation in the cationic trypsinogen gene was identified in this patient, his brother, and his mother, indicating that they have hereditary pancreatitis.
|
11874252 |
2001 |
|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation.
|
10930381 |
2000 |
|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Two heterozygous missense mutations, R122H (R117H) and N29I (N21I), in the cationic trypsinogen gene have been clearly associated with HP.
|
10909845 |
2000 |
|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
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.
|
11073545 |
2000 |
|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis.
|
10381903 |
1999 |
|
Hereditary pancreatitis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis.
|
10204851 |
1999 |