INT24439

From wiki-pain
Jump to: navigation, search
Context Info
Confidence 0.63
First Reported 1984
Last Reported 2010
Negated 0
Speculated 1
Reported most in Abstract
Documents 19
Total Number 20
Disease Relevance 10.05
Pain Relevance 4.35

This is a graph with borders and nodes. Maybe there is an Imagemap used so the nodes may be linking to some Pages.

extracellular region (Spink1)
Anatomy Link Frequency
ovary 1
Spink1 (Rattus norvegicus)
Spink1 - N34S (7)
Pain Link Frequency Relevance Heat
Chronic pancreatitis 64 98.64 Very High Very High Very High
fibrosis 6 86.96 High High
Inflammation 1 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Pancreatitis 123 100.00 Very High Very High Very High
Disease 6 98.92 Very High Very High Very High
Hyperamylasemia 2 98.60 Very High Very High Very High
Colon Cancer 3 98.00 Very High Very High Very High
Intestinal Obstruction 2 97.76 Very High Very High Very High
Ulcers 2 96.68 Very High Very High Very High
Emergencies 2 95.68 Very High Very High Very High
Adenocarcinoma 4 95.64 Very High Very High Very High
Pancreatic Cyst 2 94.52 High High
Pancreatic Cancer 6 93.32 High High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
The third category comprises p.G48E, p.D50E, p.Y54H, and p.R67C, all of which occur in strictly conserved residues, involve charged amino acids, and cause complete or nearly complete loss of PSTI expression.
Gene_expression (expression) of PSTI
1) Confidence 0.63 Published 2007 Journal Eur. J. Hum. Genet. Section Abstract Doc Link 17568390 Disease Relevance 0.13 Pain Relevance 0.05
A SPINK1 N34S was detected as a heterozygote in one (2.4%) patient with alcoholic chronic pancreatitis and a heterozygote CFTR Q1352H was detected in one other patient.
Gene_expression (detected) of SPINK1 N34S (N34S) associated with chronic pancreatitis
2) Confidence 0.57 Published 2005 Journal Dig. Dis. Sci. Section Abstract Doc Link 16187186 Disease Relevance 0.60 Pain Relevance 0.60
Identification of this lesion has not only expanded the SPINK1 mutational spectrum but also served to identify a novel mutational mechanism causing chronic pancreatitis.
Gene_expression (expanded) of SPINK1 associated with chronic pancreatitis
3) Confidence 0.55 Published 2006 Journal Eur. J. Hum. Genet. Section Abstract Doc Link 16823394 Disease Relevance 0.28 Pain Relevance 0.21
The SPINK1 N34S polymorphism was detected in 5 of 172 (2.9%) patients with chronic pancreatitis, in 4 of 200 (2.0%) patients with sporadic pancreatic adenocarcinoma, in 0 of 36 (0%) of patients with familial pancreatic cancer and in 3 of 177 (1.7%) controls of chronic cholecystitis.
Gene_expression (detected) of SPINK1 (N34S) associated with adenocarcinoma, pancreatic cancer, cholecystitis and chronic pancreatitis
4) Confidence 0.55 Published 2003 Journal Cancer Biol. Ther. Section Abstract Doc Link 14688470 Disease Relevance 1.27 Pain Relevance 0.34
The first category comprises the p.N34S and p.P55S polymorphisms, both of which occur in evolutionarily non-conserved residues, involve amino-acid substitutions with similar physicochemical properties, and do not cause any significant reduction in terms of PSTI mature peptide expression.
Gene_expression (expression) of PSTI
5) Confidence 0.55 Published 2007 Journal Eur. J. Hum. Genet. Section Abstract Doc Link 17568390 Disease Relevance 0.14 Pain Relevance 0.07
We have recently determined the functional consequences of three missense mutations that occurred within the signal peptide sequence of PSTI by Western blotting analysis of wild-type and mutant PSTI expressed in Chinese hamster ovary cells.
Gene_expression (expressed) of PSTI in ovary
6) Confidence 0.55 Published 2007 Journal Eur. J. Hum. Genet. Section Abstract Doc Link 17568390 Disease Relevance 0.17 Pain Relevance 0.09
Combinations of mutations of the PRSS1 and SPINK1 genes lead to more severe disease, as indicated by an earlier onset of symptoms, which suggests that SPINK1 is a disease modifier.
Gene_expression (mutations) of SPINK1 associated with disease
7) Confidence 0.54 Published 2003 Journal Can. J. Gastroenterol. Section Abstract Doc Link 12560855 Disease Relevance 1.07 Pain Relevance 0.27
The SPINK1 N34S mutation was detected by the PCR-RFLP technique.
Gene_expression (detected) of SPINK1 N34S (N34S)
8) Confidence 0.50 Published 2005 Journal Dig. Dis. Sci. Section Abstract Doc Link 16187186 Disease Relevance 0.61 Pain Relevance 0.61
We investigated the prevalence of SPINK1 N34S and new CFTR Q1352H mutations in alcoholic chronic pancreatitis in Korea.
Spec (investigated) Gene_expression (prevalence) of SPINK1 N34S (N34S) associated with chronic pancreatitis
9) Confidence 0.50 Published 2005 Journal Dig. Dis. Sci. Section Abstract Doc Link 16187186 Disease Relevance 0.59 Pain Relevance 0.59
The results showed that serum PSTI in acute pancreatitis was significantly higher than in normal subjects and it was also raised in acute exacerbations of chronic pancreatitis.
Gene_expression (higher) of PSTI associated with pancreatitis and chronic pancreatitis
10) Confidence 0.44 Published 1988 Journal Int. J. Pancreatol. Section Abstract Doc Link 2459273 Disease Relevance 1.01 Pain Relevance 0.17
Additional studies are needed to further elucidate the mechanism of SPINK1-associated protection in AP.


Gene_expression (protection) of SPINK1-associated
11) Confidence 0.41 Published 2010 Journal Am. J. Gastroenterol. Section Body Doc Link 19888199 Disease Relevance 0.17 Pain Relevance 0
The SPINK1 N34S polymorphism was detected in 1 of 232 alleles in patients with sentinel AP, 11 of 144 alleles in patients with RAP, and in 19 of 1,340 control alleles.
Gene_expression (detected) of SPINK1 N34S (N34S)
12) Confidence 0.36 Published 2010 Journal Am. J. Gastroenterol. Section Body Doc Link 19888199 Disease Relevance 0.25 Pain Relevance 0
Serum PSTI levels were abnormally raised in all patients with acute pancreatitis ranging from 35.0 to 4500 ng/ml, but were almost within normal range in patients with chronic pancreatitis, pancreatic cyst, acute abdominal emergencies such as perforated ulcer and intestinal obstruction, and macroamylasemia.
Gene_expression (raised) of Serum PSTI associated with intestinal obstruction, emergencies, hyperamylasemia, ulcers, pancreatitis, pancreatic cyst and chronic pancreatitis
13) Confidence 0.35 Published 1984 Journal Clin. Chim. Acta Section Abstract Doc Link 6209036 Disease Relevance 0.89 Pain Relevance 0.09
There was no correlation between serum PSTI levels and total or pancreatic-type isoamylase activity.
Gene_expression (levels) of serum PSTI
14) Confidence 0.35 Published 1984 Journal Clin. Chim. Acta Section Abstract Doc Link 6209036 Disease Relevance 0.97 Pain Relevance 0.09
Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis.
Gene_expression (Contribution) of SPINK1 associated with pancreatitis
15) Confidence 0.34 Published 2007 Journal Clin. Genet. Section Title Doc Link 17489851 Disease Relevance 0.56 Pain Relevance 0.32
In total, 80% (20/25) of patients had a molecular defect in one or both of the CFTR and SPINK1 genes, suggesting that mutations/variants in the CFTR plus or minus mutations in the SPINK1, but not the PRSS1 gene, may confer a high risk for recurrent pancreatitis.
Gene_expression (one) of SPINK1 associated with pancreatitis
16) Confidence 0.34 Published 2007 Journal Clin. Genet. Section Abstract Doc Link 17489851 Disease Relevance 0.46 Pain Relevance 0.20
The 2 others patients had SPINK1 mutations.
Gene_expression (mutations) of SPINK1
17) Confidence 0.33 Published 2009 Journal J. Pediatr. Surg. Section Body Doc Link 19944211 Disease Relevance 0.08 Pain Relevance 0
CONCLUSIONS: Comprehensive testing of the CFTR, PRSS1, and SPINK1 genes identified genetic variants in nearly half of all subjects considered by their physicians as candidates for genetic testing.
Gene_expression (testing) of SPINK1
18) Confidence 0.26 Published 2006 Journal Pancreas Section Body Doc Link 17003641 Disease Relevance 0.06 Pain Relevance 0
SPINK1 N34S was present in 3/190 (1.6%) and P55S was found in 2/190 (1.1%) of controls.
Gene_expression (present) of SPINK1 N34S (N34S)
19) Confidence 0.06 Published 2003 Journal Dig. Dis. Sci. Section Abstract Doc Link 12822871 Disease Relevance 0.73 Pain Relevance 0.62
Again, only the patient with the combination of both CASR and N34S SPINK1 gene mutation developed pancreatitis, whereas in the healthy parents and children only an isolated CASR or N34S SPINK1 gene mutation could be detected.
Gene_expression (detected) of N34S SPINK1 gene (N34S)
20) Confidence 0.05 Published 2006 Journal Scand. J. Gastroenterol. Section Body Doc Link 16497624 Disease Relevance 0 Pain Relevance 0

General Comments

This test has worked.

Personal tools
Namespaces

Variants
Actions
Navigation
Toolbox