|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, not all cases of JPS and HMPS have mutations in SMAD4 and focus has now shifted to other components of the TGF-beta pathway to clarify the genetic mechanisms involved in these conditions.
|
19438883 |
2010 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The overall prevalence of SMAD4 and BMPR1A point mutations and deletions in JPS was 45% in the largest series of patients to date.
|
18823382 |
2009 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.
|
24398790 |
2014 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently, germline mutations of the BMPR1A (ALK3) gene were reported in JP cases without SMAD4 mutations.
|
12630959 |
2003 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in BMPR1A or SMAD4 are found in roughly half of patients diagnosed with JPS.
|
23599658 |
2013 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We examined 29 patients with the clinical diagnosis of JPS for germline mutations in the MADH4 or BMPR1A genes and identified MADH4 mutations in seven (24%) and BMPR1A mutations in five patients (17%).
|
12136244 |
2002 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our findings support that SMAD4 mutations carriers have symptoms of both HHT and JPS and that the frequency of PAVM and gastric involvement with polyps is higher than in patients with HHT or JPS not caused by a SMAD4 mutation.
|
26572829 |
2016 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Juvenile polyposis syndrome (JPS) is a rare autosomal dominant disorder predisposing to gastrointestinal hamartomatous polyps and cancer with a pathogenic SMAD4 or BMPR1A germline mutation (1st-hit) being identified in about 40-50% of patients.
|
26171675 |
2015 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.
|
17873119 |
2007 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alternatively, because simultaneous disruption of both the PTEN and TGF-β/SMAD4 pathways is associated with development of esophageal cancer in a mouse model and because SMAD4 mutations cause gastrointestinal hamartomas in juvenile polyposis syndrome, the SMAD7 mutation may represent an additional modifier of these individuals' PTEN-mutant phenotype.
|
25554686 |
2015 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic germline mutations in both the SMAD4 and BMPR1A genes involved in the transforming growth factor beta pathway account for 40% of cases of JPS.
|
17573831 |
2007 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A subset of patients with a mutation in the MADH4 gene on chromosome 18 exhibits an overlapping syndrome of HHT and juvenile polyposis (JPS).We present one such family.
|
20012952 |
2010 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
|
15031030 |
2004 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Large genomic deletions of SMAD4, BMPR1A and PTEN are a common cause of JPS.
|
18178612 |
2008 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Nine affected SMAD4 mutation-positive family members were screened and treated for manifestations of JPS.
|
22617360 |
2012 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Novel SMAD4 mutation causing Myhre syndrome.
|
24715504 |
2014 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutation screening in juvenile polyposis syndrome.
|
16436638 |
2006 |
|
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 |
CLINVAR |
Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis.
|
16152648 |
2005 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with juvenile polyposis syndrome and germline SMAD4 or BMPR1A mutations were identified from a prospectively maintained institutional registry.
|
25389115 |
2015 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A juvenile polyposis-hereditary hemorrhagic telangiectasia overlap syndrome has previously been reported in 22% of patients with juvenile polyposis due to a SMAD4 mutation.
|
22810475 |
2012 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
SMAD4 mutations give rise to juvenile polyposis syndrome, which is clinically similar to PJS.
|
11741830 |
2001 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Smad4 suppresses the tumorigenesis and aggressiveness of neuroblastoma through repressing the expression of heparanase.
|
27595937 |
2016 |
|
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 |
|
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 |