Childhood Medulloblastoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Medulloblastoma and RMS are also present in the murine model for Ptch1 deficiency.
|
12845631 |
2003 |
Childhood Medulloblastoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Together, our results indicate that DNA damage promoted by Boc leads to the demise of its own coreceptor, Ptch1, and consequently medulloblastoma progression.
|
25263791 |
2014 |
Childhood Medulloblastoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
We firstly isolated CSCs from Sonic Hedgehog (SHH) MB derived from Ptch1 heterozygous mice and compared their expression level of EMT-related transcripts and microRNAs with cerebellar NSCs.
|
30483126 |
2018 |
Childhood Medulloblastoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Orthotopic transplantation of NES cells generated from Gorlin syndrome patients, who are predisposed to medulloblastoma due to germline-mutated PTCH1, also generated medulloblastoma.
|
31204176 |
2019 |
Childhood Medulloblastoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Recent advances in the molecular genetics of medulloblastoma transformation (e.g., myc, PTCH ) are reviewed and discussed.
|
11772307 |
2001 |
Childhood Medulloblastoma
|
0.400 |
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 |
Childhood Medulloblastoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Surprisingly, GADD34 homozygous mutation strongly enhanced the ISR, but significantly decreased the incidence of medulloblastoma in adult Ptch1+/- mice.
|
27802424 |
2016 |
Childhood Medulloblastoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Shh-associated MBs originate postnatally, from dysregulated hyperproliferation of GCPs in developing cerebellum's external granular layer (EGL), as shown in heterozygous Ptch1<sup>+/-</sup> knock-out mouse strains that model human MB occurrence and progression.
|
30452905 |
2019 |
Childhood Medulloblastoma
|
0.400 |
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 |
Childhood Medulloblastoma
|
0.400 |
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 |
Childhood Medulloblastoma
|
0.400 |
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 |
Childhood Medulloblastoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Gorlin syndrome is a rare multisystem inherited disorder which can predispose to basal cell carcinomas (BCCs), childhood medulloblastomas in addition to various developmental abnormalities; the majority of cases are due to mutations in the PTCH1 gene.
|
29356994 |
2018 |
Childhood Medulloblastoma
|
0.400 |
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 |
Childhood Medulloblastoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations in the human tumor suppressor gene, Patched-1, are associated with nevoid basal cell carcinoma syndrome characterized by developmental abnormalities and tumorigenesis, such as basal cell carcinoma and medulloblastoma.
|
16934747 |
2006 |
Childhood Medulloblastoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Nevoid basal cell carcinoma syndrome (NBCCS), caused by a PTCH1 mutation in the hedgehog signaling pathway, occasionally exhibits macrocephaly and medulloblastoma.
|
28328116 |
2017 |
Childhood Medulloblastoma
|
0.400 |
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 |
Childhood Medulloblastoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Treatment of Med in Ptch1(+/-) Trp53(-/-) mice with the antiestrogen chemotherapeutic drug Faslodex significantly increased symptom-free survival, which was associated with increased apoptosis and decreased BCL2 and IGF1R expression and signaling.
|
25885794 |
2015 |
Childhood Medulloblastoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
In conjunction with CD15, proliferating CD24+/CD15+ granule cell precursors (GCPs) were identified as a TIC population in Ptch1 deleted medulloblastoma.
|
30657775 |
2019 |
Childhood Medulloblastoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Most human MB cell lines tested (five of seven = 71.4%), two MB cell lines derived from spontaneously arising tumors in Patched-1(+/-) mice (two of two = 100%) and three MB primary cultures derived from surgical specimens, were susceptible to reovirus infection.
|
12810644 |
2003 |
Childhood Medulloblastoma
|
0.400 |
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 |
Childhood Medulloblastoma
|
0.400 |
Biomarker
|
disease |
CTD_human |
When compared with Ptch1 heterozygous mutants, compound Ptch1/Hic1 heterozygotes display a fourfold increased incidence of medulloblastoma.
|
18347096 |
2008 |
Childhood Medulloblastoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Learning that Ptc1 is a medulloblastoma tumor suppressor led directly to the identification of the Ptc1 ligand, Sonic hedgehog, as a powerful mitogen for cerebellar granule cell precursors.
|
11283316 |
2001 |
Childhood Medulloblastoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mice heterozygous for Patched-1 (Ptc1+/-) that are either heterozygous or nullizygous for Kip1 developed medulloblastoma rapidly and with high penetrance.
|
19147535 |
2009 |
Childhood Medulloblastoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
There is a strong association between anaplastic/large-cell tumours and MYC amplification, which has previously been linked with aggressive disease, but associations between abnormalities on chromosome 17 and anaplastic/large-cell MBs and between abnormalities in the shh/PTCH pathway and the desmoplastic variant are more controversial.
|
12175339 |
2002 |
Childhood Medulloblastoma
|
0.400 |
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 |