|
CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO (finding)
|
|
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
Cirrhosis, Familial
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
|
Cirrhosis, Cryptogenic
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Inflammatory Bowel Diseases
|
|
0.020 |
GeneticVariation
|
BEFREE |
While some K8 mutations (K8 G62C, K8 K464N) are also presumed susceptibility factors for inflammatory bowel disease (IBD), the only K18 mutation (K18 S230T) discovered so far in an IBD patient is thought to be a polymorphism.
|
24915158 |
2014 |
|
Pancreatitis
|
|
0.020 |
GeneticVariation
|
BEFREE |
We found the heterozygous G62C mutation in n = 3/80 patients (n = 2/52 patients from different families, 3.8%) with familial pancreatitis without PRSS1 mutation and in n = 3/126 patients (2.4%) with sporadic pancreatitis.
|
16327287 |
2006 |
|
Pancreatitis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Our data suggest that the KRT8 alterations, Y54H and G62C, do not predispose patients to the development of pancreatitis or pancreatic cancer.
|
17039343 |
2006 |
|
Pancreatitis, Chronic
|
|
0.020 |
GeneticVariation
|
BEFREE |
The frequency of G62C did not differ between patients with acute or chronic pancreatitis, pancreatic adenocarcinoma and control individuals.
|
17039343 |
2006 |
|
Liver Cirrhosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
In summary, the cytokeratin 8 mutation G61C, which has been found to be associated with cryptogenic liver cirrhosis, was also found in the present patient population.
|
16911694 |
2006 |
|
Inflammatory Bowel Diseases
|
|
0.020 |
GeneticVariation
|
BEFREE |
Our data indicate that both keratin 8 mutations, G62C and Y54H, do not play a relevant pathogenic role in inflammatory bowel disease.
|
15248378 |
2004 |
|
Pancreatitis, Chronic
|
|
0.020 |
GeneticVariation
|
BEFREE |
G61C mutation of the keratin 8 gene, together with other environmental factors and/or genetic factors, could predispose to chronic pancreatitis, by interfering with the normal organization of keratin filaments.
|
12868678 |
2003 |
|
Liver Cirrhosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Of the 349 blood bank control samples, only one contained the Tyr-53 --> His and one the Gly-61 --> Cys K8 mutations (P < 0.004 when comparing cirrhosis versus control groups).
|
12724528 |
2003 |
|
Liver Failure, Acute
|
|
0.010 |
GeneticVariation
|
BEFREE |
Expression of human K8 variants G62C, R341H, or R341C in mice predisposes to acute APAP hepatotoxicity, thereby providing direct evidence for the importance of these variants in human acute liver failure.
|
25963979 |
2015 |
|
Iron Overload
|
|
0.010 |
GeneticVariation
|
BEFREE |
Previously-generated transgenic mice overexpressing K8 G62C were studied for their susceptibility to iron overload.
|
22412904 |
2012 |
|
Hereditary pancreatitis
|
|
0.010 |
GeneticVariation
|
BEFREE |
We found the heterozygous G62C mutation in n = 3/80 patients (n = 2/52 patients from different families, 3.8%) with familial pancreatitis without PRSS1 mutation and in n = 3/126 patients (2.4%) with sporadic pancreatitis.
|
16327287 |
2006 |
|
Malignant neoplasm of pancreas
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our data suggest that the KRT8 alterations, Y54H and G62C, do not predispose patients to the development of pancreatitis or pancreatic cancer.
|
17039343 |
2006 |
|
Colon adenoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Also, one out 45 disease control patients with an adenoma of the colon but without liver disease was found to carry the mutation G61C of cytokeratin 8.
|
16911694 |
2006 |
|
Alcoholic Liver Diseases
|
|
0.010 |
GeneticVariation
|
BEFREE |
The mutation G61C in the cytokeratin 8 gene was found in one patient with alcoholic liver disease and in two patients with liver disease of unknown etiology.
|
16911694 |
2006 |
|
Liver diseases
|
|
0.010 |
GeneticVariation
|
BEFREE |
The mutation G61C in the cytokeratin 8 gene was found in one patient with alcoholic liver disease and in two patients with liver disease of unknown etiology.
|
16911694 |
2006 |
|
Pancreatic carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our data suggest that the KRT8 alterations, Y54H and G62C, do not predispose patients to the development of pancreatitis or pancreatic cancer.
|
17039343 |
2006 |
|
Acute on chronic pancreatitis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The KRT8 Y54H and G62C polymorphisms were assessed in a cohort of patients with acute and chronic pancreatitis of various aetiologies or pancreatic cancer originating from Austria (n=16), the Czech Republic (n=90), Germany (n=1698), Great Britain (n=36), India (n=60), Italy (n=143), the Netherlands (n=128), Romania (n=3), Spain (n=133), and Switzerland (n=129).
|
17039343 |
2006 |
|
Crohn Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The G62C mutation was detected in five (2.3%) patients presenting with Crohn's disease and in three (2.3%) with ulcerative colitis.
|
15248378 |
2004 |
|
Ulcerative Colitis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The G62C mutation was detected in five (2.3%) patients presenting with Crohn's disease and in three (2.3%) with ulcerative colitis.
|
15248378 |
2004 |
|
Cirrhosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Of the 349 blood bank control samples, only one contained the Tyr-53 --> His and one the Gly-61 --> Cys K8 mutations (P < 0.004 when comparing cirrhosis versus control groups).
|
12724528 |
2003 |