Juvenile polyposis syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
Juvenile polyposis syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A structural basis for mutational inactivation of the tumour suppressor Smad4.
|
9214508 |
1997 |
Juvenile polyposis syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Dual role of the Smad4/DPC4 tumor suppressor in TGFbeta-inducible transcriptional complexes.
|
9389648 |
1997 |
Juvenile polyposis syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Targeted deletion of Smad4 shows it is required for transforming growth factor beta and activin signaling in colorectal cancer cells.
|
9482899 |
1998 |
Juvenile polyposis syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Intestinal tumorigenesis in compound mutant mice of both Dpc4 (Smad4) and Apc genes.
|
9506519 |
1998 |
Juvenile polyposis syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
A gene for familial juvenile polyposis maps to chromosome 18q21.1.
|
9545410 |
1998 |
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SMAD4/DPC4 gene in juvenile polyposis.
|
9582123 |
1998 |
Juvenile polyposis syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Here it is shown that a subset of juvenile polyposis families carry germ line mutations in the gene SMAD4 (also known as DPC4), located on chromosome 18q21.1, that encodes a critical cytoplasmic mediator in the transforming growth factor-beta signaling pathway.
|
9582123 |
1998 |
Juvenile polyposis syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Here it is shown that a subset of juvenile polyposis families carry germ line mutations in the gene SMAD4 (also known as DPC4), located on chromosome 18q21.1, that encodes a critical cytoplasmic mediator in the transforming growth factor-beta signaling pathway.
|
9582123 |
1998 |
Juvenile polyposis syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We therefore confirm DPC4 as a cause of JPS, but show that there is considerable remaining, uncharacterized genetic heterogeneity in this disease.
|
9811934 |
1998 |
Juvenile polyposis syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
We therefore confirm DPC4 as a cause of JPS, but show that there is considerable remaining, uncharacterized genetic heterogeneity in this disease.
|
9811934 |
1998 |
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We therefore confirm DPC4 as a cause of JPS, but show that there is considerable remaining, uncharacterized genetic heterogeneity in this disease.
|
9811934 |
1998 |
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
We therefore confirm DPC4 as a cause of JPS, but show that there is considerable remaining, uncharacterized genetic heterogeneity in this disease.
|
9811934 |
1998 |
Juvenile polyposis syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our results confirm that SMAD4 is a gene predisposing to JP and suggest the existence of further JP loci other than the SMAD2, SMAD3, or SMAD7 genes.
|
10441006 |
1999 |
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Direct genetic testing for Smad4 mutations in patients at risk for juvenile polyposis.
|
10455879 |
1999 |
Juvenile polyposis syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The DPC4/SMAD4 gene, lying in close proximity to the DCC gene at 18q21.1, was recently identified as a candidate tumor suppressor for the genesis of pancreatic cancer as well as a predisposing gene for Juvenile Polyposis Syndrome (JPS).
|
10479724 |
1999 |
Juvenile polyposis syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
These results are consistent with a recent report that germ-line SMAD4 mutations are found in a subset of familial juvenile polyposis.
|
10626800 |
1999 |
Juvenile polyposis syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Analysis of genetic and phenotypic heterogeneity in juvenile polyposis.
|
10764709 |
2000 |
Juvenile polyposis syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
To examine the contribution of mutations in PTCH, PTEN, and DPC4 (SMAD4) to JPS.
|
10764709 |
2000 |
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
It has been suggested that the dpc4 (deleted in pancreatic carcinoma, locus 4) gene, which is located on chromosome 18q21.1, might cause juvenile polyposis.
|
10797267 |
2000 |
Juvenile polyposis syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Germline mutations of the dpc4 gene in Korean juvenile polyposis patients.
|
10797267 |
2000 |
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Thus, mutations in PTEN are associated with JPS in addition to CD and some BRRS families, although the incidence of PTEN germ-line mutations in JPS might be more rare than that reported for SMAD4, a gene found to be mutated in approximately one-half of the JPS families investigated.
|
11156385 |
2000 |
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Juvenile polyposis syndrome (JPS) results from germ-line mutations in the SMAD-4 gene (18q21.1) that encodes for an enzyme involved in transforming growth factor beta(TGF-beta) signal transduction.
|
11352305 |
2001 |
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The mouse homologue of CDX2 has been shown to give rise to a phenotype which includes hamartomatous-like polyps in the colon and is therefore a good candidate for JPS and PJS cases which are not accounted for by the SMAD4 and LKB1 genes.
|
11355940 |
2001 |
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of MADH4 (SMAD4) have been described in a variable number of probands with JPS.
|
11536076 |
2001 |