|
Juvenile polyposis syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Smad4 acts as tumor suppressor by antagonizing lymphangiogenesis in colorectal cancer.
|
25680269 |
2015 |
|
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 |
CLINVAR |
Novel SMAD4 mutation causing Myhre syndrome.
|
24715504 |
2014 |
|
Juvenile polyposis syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
SMAD4 carriers should be managed for juvenile polyposis and hereditary hemorrhagic telangiectasia because symptoms of both conditions are likely yet unpredictable.
|
24525918 |
2014 |
|
Juvenile polyposis syndrome
|
1.000 |
CausalMutation
|
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 |
BMPR1A and SMAD4 germline mutations have been found in patients with juvenile polyposis syndrome.
|
25129392 |
2014 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
|
24424121 |
2014 |
|
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 |
Biomarker
|
disease |
BEFREE |
Genetic analysis of the CDC73 gene [for Hyperparathyroidism-jaw tumor (HPT-JT)], MEN1 for Multiple Endocrine Neoplasia Type1, CDKN1B for MEN4, SDHB and SDHD for Paraganglioma/Pheochromocytoma susceptibility, VHL for von Hippel-Lindau Syndrome, BMPR1A and SMAD4 for Juvenile Polyposis Syndrome (JPS) (sequencing and MLPA), karyotype and array CGH (44 K) were all normal.
|
23242522 |
2013 |
|
Juvenile polyposis syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations.
|
23239472 |
2013 |
|
Juvenile polyposis syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The vascular disorder Hereditary Hemorrhagic Telangiectasia (HHT) is in general an inherited disease caused by mutations in the TGF-β/BMP receptors endoglin or ALK1 or in rare cases by mutations of the TGF-β signal transducer protein Smad4 leading to the combined syndrome of juvenile polyposis and HHT.
|
23805858 |
2013 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We herein report a family with juvenile polyposis syndrome (JPS) with a novel germline mutation in the SMAD4 gene.
|
24312718 |
2013 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The first patient, an 11-year-old boy without Marfan syndrome features, had JPS and an apparently de novo SMAD4 mutation (c.1340_1367dup28).
|
23239472 |
2013 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In addition to this syndrome, gastric cancer risk is elevated in Lynch syndrome associated with germline mutations in DNA mismatch repair genes and microsatellite instability, in hereditary breast and ovarian cancer syndrome due to germline BRCA1 and BRCA2 mutations, in familial adenomatous polyposis caused by germline APC mutations, in Li-Fraumeni syndrome due to germline p53 mutations, in Peutz-Jeghers syndrome associated with germline STK11 mutations, and in juvenile polyposis syndrome associated with germline mutations in the SMAD4 and BMPR1A genes.
|
22846738 |
2013 |
|
Juvenile polyposis syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.
|
23399955 |
2013 |
|
Juvenile polyposis syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A unifying working hypothesis for juvenile polyposis syndrome and Ménétrier's disease: specific localization or concomitant occurrence of a separate entity?
|
22748914 |
2012 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Retinal involvement in two unrelated patients with Myhre syndrome.
|
22683461 |
2012 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling.
|
22316667 |
2012 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Juvenile polyposis syndrome, SMAD4 mutations, and hereditary hemorrhagic telangiectasia.
|
21572342 |
2012 |
|
Juvenile polyposis syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
|
22243968 |
2012 |
|
Juvenile polyposis syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations of SMAD4 account for both LAPS and Myhre syndromes.
|
22585601 |
2012 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome.
|
22810475 |
2012 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
All patients with JP and SMAD4 mutation had features of HHT.
|
22331366 |
2012 |