Polycystic liver disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant polycystic liver disease (PCLD) is caused by mutations of either PRKCSH or Sec63, two proteins associated with the endoplasmic reticulum (ER).
|
19801576 |
2010 |
Polycystic liver disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Thus, Sec63 is linked to the Wnt signaling pathways and this interaction may be the reason why mutations in SEC63 can lead to PCLD.
|
21251912 |
2011 |
Polycystic liver disease
|
0.700 |
Biomarker
|
disease |
CTD_human |
Autosomal dominant polycystic liver disease results from mutations in PRKCSH or SEC63.
|
21685914 |
2011 |
Polycystic liver disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We performed molecular analysis of the PCLD associated genes PRKCSH and SEC63 in 91 patients.
|
20408955 |
2011 |
Polycystic Kidney Diseases
|
0.320 |
Biomarker
|
group |
CTD_human |
A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation.
|
21685914 |
2011 |
Polycystic Kidney - body part
|
0.300 |
Biomarker
|
disease |
CTD_human |
A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation.
|
21685914 |
2011 |
Isolated polycystic liver disease
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
We performed molecular analysis of the PCLD associated genes PRKCSH and SEC63 in 91 patients.
|
20408955 |
2011 |
Polycystic liver disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, as somatic second-hit mutations also play a role in cyst formation in patients with a SEC63 germline mutation, this appears to be a general mechanism of cyst formation in PCLD.
|
23209713 |
2012 |
Polycystic liver disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Together, our analyses of sec63 mutant zebrafish highlight the possible role of ER stress in polycystic liver disease and suggest that these mutants will serve as a model for understanding the pathophysiology of this disease and other abnormalities involving ER stress.
|
22864019 |
2013 |
Liver cyst
|
0.140 |
Biomarker
|
disease |
BEFREE |
Sec63 is a member of the endoplasmic reticulum (ER) translocon machinery, although it is unclear how mutations in SEC63 lead to liver cyst formation in humans.
|
22864019 |
2013 |
Liver cyst
|
0.140 |
Biomarker
|
disease |
BEFREE |
Our results show that (a) morpholinos against sec63, prkcsh, and pkd1a eliminate expression of the respective proteins; (b) phenotypic body changes included curved tail and the formation of hepatic cysts in zebrafish larvae; (c) exposure of embryos to pasireotide inhibited hepatic cystogenesis in the zebrafish models; and (d) exposure of embryos to 4-PBA resulted in the ER in cholangiocytes resolving from a curved to a smooth appearance.
|
23668934 |
2013 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.010 |
Biomarker
|
disease |
BEFREE |
Hepatocellular carcinoma as extracolonic manifestation of Lynch syndrome indicates SEC63 as potential target gene in hepatocarcinogenesis.
|
23537056 |
2013 |
Hepatocarcinogenesis
|
0.010 |
Biomarker
|
disease |
BEFREE |
The pro-carcinogenic growth behavior of hepatocytes with low SEC63 expression in the murine model indicates a potential role for SEC63 in hepatocarcinogenesis in general, but this needs further functional validation.
|
23537056 |
2013 |
Lynch Syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
Hepatocellular carcinoma as extracolonic manifestation of Lynch syndrome indicates SEC63 as potential target gene in hepatocarcinogenesis.
|
23537056 |
2013 |
Polycystic liver disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Polycystic livers are found in autosomal dominant polycystic kidney disease (ADPKD), caused by polycystic kidney disease (PKD)1 and PKD2 mutations in virtually all cases, and in isolated polycystic liver disease (PCLD), where 20% of cases are caused by mutations in Protein kinase C substrate 80K-H (PRKCSH) or SEC63.
|
24506938 |
2014 |
Polycystic liver disease
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Screening mutations of the genes causing PCLD (PRKCSH and SEC63) or ADPKD (PKD1 and PKD2) confirm the clinical diagnosis.
|
24886261 |
2014 |
Polycystic Kidney Diseases
|
0.320 |
GeneticVariation
|
group |
BEFREE |
Polycystic livers are found in autosomal dominant polycystic kidney disease (ADPKD), caused by polycystic kidney disease (PKD)1 and PKD2 mutations in virtually all cases, and in isolated polycystic liver disease (PCLD), where 20% of cases are caused by mutations in Protein kinase C substrate 80K-H (PRKCSH) or SEC63.
|
24506938 |
2014 |
Isolated polycystic liver disease
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Polycystic livers are found in autosomal dominant polycystic kidney disease (ADPKD), caused by polycystic kidney disease (PKD)1 and PKD2 mutations in virtually all cases, and in isolated polycystic liver disease (PCLD), where 20% of cases are caused by mutations in Protein kinase C substrate 80K-H (PRKCSH) or SEC63.
|
24506938 |
2014 |
Polycystic Kidney, Autosomal Dominant
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Polycystic livers are found in autosomal dominant polycystic kidney disease (ADPKD), caused by polycystic kidney disease (PKD)1 and PKD2 mutations in virtually all cases, and in isolated polycystic liver disease (PCLD), where 20% of cases are caused by mutations in Protein kinase C substrate 80K-H (PRKCSH) or SEC63.
|
24506938 |
2014 |
Polycystic liver disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Routine molecular testing using Sanger sequencing identifies pathogenic variants in the PRKCSH (15%) and SEC63 (where SEC63 is Saccharomyces cerevisiae homolog 63 (MIM*608648); 6%) genes, but about approximately 80% of patients meeting the clinical ADPLD criteria carry no PRKCSH or SEC63 mutation.
|
26365003 |
2016 |
Isolated polycystic liver disease
|
0.030 |
Biomarker
|
disease |
BEFREE |
Routine molecular testing using Sanger sequencing identifies pathogenic variants in the PRKCSH (15%) and SEC63 (where SEC63 is Saccharomyces cerevisiae homolog 63 (MIM*608648); 6%) genes, but about approximately 80% of patients meeting the clinical ADPLD criteria carry no PRKCSH or SEC63 mutation.
|
26365003 |
2016 |
Polycystic Kidney Diseases
|
0.320 |
Biomarker
|
group |
BEFREE |
Isolated liver cysts are caused by mutations in Protein Kinase C Substrate 80K-H (PRKCSH), SEC63, and LDL Receptor Related Protein 5 (LRP5), whereas Polycystic Kidney Disease (PKD)1, PKD2, and PKHD1 mutations cause kidney cysts often accompanied by liver cysts.
|
30652979 |
2019 |
Liver cyst
|
0.140 |
GeneticVariation
|
disease |
BEFREE |
Isolated liver cysts are caused by mutations in Protein Kinase C Substrate 80K-H (PRKCSH), SEC63, and LDL Receptor Related Protein 5 (LRP5), whereas Polycystic Kidney Disease (PKD)1, PKD2, and PKHD1 mutations cause kidney cysts often accompanied by liver cysts.
|
30652979 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
0.020 |
Biomarker
|
disease |
BEFREE |
Meanwhile, ER resident protein SEC63 may modify disease severity in autosomal dominant polycystic kidney disease.
|
30099615 |
2019 |