|
Medulloblastoma
|
0.900 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
HPO |
|
|
|
|
Medulloblastoma
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
BEFREE |
Medulloblastoma and RMS are also present in the murine model for Ptch1 deficiency.
|
12845631 |
2003 |
|
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
BEFREE |
Ptc1(+/-) mice develop spontaneous rhabdomyosarcoma (RMS) and medulloblastoma (MB), as well as BCC following radiation exposure.
|
15925443 |
2006 |
|
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
MGD |
A novel somatic mouse model to survey tumorigenic potential applied to the Hedgehog pathway.
|
17047082 |
2006 |
|
Medulloblastoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Abnormal activation of components of the Hedgehog pathway--specifically, resulting from mutations in the Patched 1 gene--is associated with the development of basal cell carcinoma, as well as several other cancers, including medulloblastoma.
|
22177103 |
2011 |
|
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
BEFREE |
Although medulloblastomas occurring in Ptc1+/- mice were histopathologically heterogeneous and contained intermixed regions of both rapidly proliferating and nondividing more differentiated cells, tumors that also lacked Kip1 were uniformly less differentiated, more highly proliferative, and invasive.
|
19147535 |
2009 |
|
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
CTD_human |
Antitumor effects of a combined 5-aza-2'deoxycytidine and valproic acid treatment on rhabdomyosarcoma and medulloblastoma in Ptch mutant mice.
|
19155313 |
2009 |
|
Medulloblastoma
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
Brain- and heart-specific Patched-1 containing exon 12b is a dominant negative isoform and is expressed in medulloblastomas.
|
16934747 |
2006 |
|
Medulloblastoma
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Brain- and heart-specific Patched-1 containing exon 12b is a dominant negative isoform and is expressed in medulloblastomas.
|
16934747 |
2006 |
|
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
BEFREE |
By combining SB mutagenesis with Patched1 heterozygous mice (Ptch1(lacZ/+)), we observed an increased frequency of MB and decreased tumor-free survival compared with Ptch1(lacZ/+) controls.
|
24167280 |
2013 |
|
Medulloblastoma
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Constitutive activation of hedgehog signaling, often caused by PTCH1 inactivation and leading to inappropriate activation of GLI target genes, is crucial for the development of several human tumors including basal cell carcinoma of the skin and medulloblastoma.
|
15521068 |
2005 |
|
Medulloblastoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Conversely, patients with PTCH1 germline mutations experience Shh overstimulation resulting in Gorlin (Nevoid Basal Cell Carcinoma) syndrome and an increased incidence of malignant transformation of CGNPs leading to medulloblastoma formation.
|
27444290 |
2016 |
|
Medulloblastoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Each SUFU-positive family included a single case of medulloblastoma, whereas only two (1.7%) of 115 individuals with Gorlin syndrome and a PTCH1 mutation developed medulloblastoma.
|
25403219 |
2014 |
|
Medulloblastoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Eight genetic variants annotating three genes in the sonic hedgehog signaling pathway; CCND2, PTCH1, and GLI2, were found to be associated with the risk of medulloblastoma (P(combined) < 0.05).
|
26290144 |
2015 |
|
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
BEFREE |
Finally, compound 24 led to significant regression of subcutaneous tumor generated by primary Ptch1-deficient medulloblastoma cells in SCID mouse.
|
28618224 |
2017 |
|
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
BEFREE |
Further, the expression of murine homolog of miR-206 was also found to be downregulated in SHH subgroup medulloblastomas from the Smo (+/+) transgenic mice and the Ptch1 (+/-) knockout mice.
|
25859932 |
2015 |
|
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
BEFREE |
Genetic analyses revealed recurrent somatic inactivations of the tumor suppressor gene Ptch1 and a recapitulation of the sonic hedgehog subgroup of human medulloblastomas.
|
27815386 |
2017 |
|
Medulloblastoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Gorlin syndrome is associated with germline mutations in components of the Sonic Hedgehog pathway, including Patched1 (<i>PTCH1)</i> and Suppressor of fused (<i>SUFU)</i><i>SUFU</i> mutation carriers appear to have an especially high risk of early-onset medulloblastoma.
|
28620006 |
2017 |
|
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
MGD |
Hair cycle regulation of Hedgehog signal reception.
|
12648487 |
2003 |
|
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
BEFREE |
Here we have used Ptc1(+/-); p53(-/-) mice which develop medulloblastoma to test the ability of cyclopamine to inhibit endogenous tumor growth in vivo after tumor initiation through intraperitoneal delivery, which avoids the brain damage associated with direct injection.
|
15652709 |
2005 |
|
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
BEFREE |
Here we use a mouse model of Ptch1 heterozygosity to reveal a critical tumor suppressor function for Hic1 in medulloblastoma.
|
18347096 |
2008 |
|
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
MGD |
Identification of CD15 as a marker for tumor-propagating cells in a mouse model of medulloblastoma.
|
19185848 |
2009 |
|
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
BEFREE |
If one copy of the Ptch gene is lost, as in human Gorlin's syndrome and in Ptch(+/-) mice, MBs may form.
|
23389290 |
2013 |