Medulloblastoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In contrast, mice lacking one or two functional Ink4c alleles and one copy of Patched (Ptc1) encoding the Shh receptor rapidly developed MBs that retained wild-type p53.
|
16260494 |
2005 |
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 |
MGD |
A novel somatic mouse model to survey tumorigenic potential applied to the Hedgehog pathway.
|
17047082 |
2006 |
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
BEFREE |
The human Patched (PTCH) gene is a classical tumour suppressor gene for basal cell carcinomas and medulloblastomas, the loss of which causes increased signalling through the Sonic Hedgehog (SHH) pathway.
|
17230190 |
2007 |
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
CTD_human |
When compared with Ptch1 heterozygous mutants, compound Ptch1/Hic1 heterozygotes display a fourfold increased incidence of medulloblastoma.
|
18347096 |
2008 |
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 |
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 |
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 |
To study the role of Ptc1 in cerebellar tumor development and to create a preclinical therapeutic platform, we have generated a conditional Ptc1 haploinsufficiency model of medulloblastoma by inactivating Ptc1 in Pax7-expressing cells of the cerebellum.
|
19213072 |
2009 |
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
CTD_human |
To study the role of Ptc1 in cerebellar tumor development and to create a preclinical therapeutic platform, we have generated a conditional Ptc1 haploinsufficiency model of medulloblastoma by inactivating Ptc1 in Pax7-expressing cells of the cerebellum.
|
19213072 |
2009 |
Medulloblastoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We have identified the known c.1022 + 1G>A SUFU germ line splicing mutation in a family that was PTCH1-negative and who had signs and symptoms of GS, including medulloblastoma.
|
19533801 |
2009 |
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
BEFREE |
Primary tumor cells derived from two models of murine medulloblastoma (Ptch1(+/-);Ink4c(-/-) and p53(FL/FL);Nestin-Cre(+); Ink4c(-/-)) that retain and lack p53 function, respectively, displayed a dependence on functional p53 to engage 17-DMAG-induced apoptosis.
|
19805107 |
2009 |
Medulloblastoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Whereas genetic mutations in PTCH1 have previously been shown to lead to medulloblastoma, our study indicates that epigenetic silencing of PTCH1, and other critical developmental loci, by DNA methylation is a fundamental process of pediatric medulloblastoma formation.
|
19966297 |
2010 |
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
BEFREE |
The IGF-I transgene produced a marked brain overgrowth, and significantly accelerated tumor development, increasing the frequency of pre-neoplastic lesions as well as full medulloblastomas in Ptc1+/-/IGF-I Tg mice.
|
20214787 |
2010 |
Medulloblastoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We also briefly review two important advances in this area: the treatment of medulloblastomas in patients with mutations in the PTCH1 gene, and the discovery of deregulated mammalian target of rapamycin as a major oncogenic driver molecule in patients with TSC mutations and subependymal giant cell astrocytoma.
|
21042217 |
2010 |
Medulloblastoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Somatic inactivating mutations in PTCH1 and SUFU each occur in approximately 10% of medulloblastomas.
|
21188540 |
2011 |
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
MGD |
Susceptibility to MB development was significantly increased in ovariectomized Ptch1(+/-) females and restored to levels observed in control mice after estrogen replacement.
|
21351254 |
2010 |
Medulloblastoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Novel PTCH1 mutations in Japanese Nevoid basal cell carcinoma syndrome patients: two familial and three sporadic cases including the first Japanese patient with medulloblastoma.
|
21368767 |
2011 |
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
BEFREE |
Significantly, loss of MDM2 in Ptch1(+/-) mice, a model for Shh-mediated human medulloblastoma, impedes cerebellar tumorigenesis.
|
21437245 |
2011 |
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 |
If one copy of the Ptch gene is lost, as in human Gorlin's syndrome and in Ptch(+/-) mice, MBs may form.
|
23389290 |
2013 |
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 |
GeneticVariation
|
disease |
BEFREE |
This is supported by the observation that human medulloblastomas with PTCH1 mutations displayed more similarities to PTCH1 wild-type tumors of the same age group than to PTCH1-mutated tumors of the other age group.
|
24871706 |
2014 |