Childhood Medulloblastoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In addition, Trim32 knockout enhances the incidence of medulloblastoma (MB) formation in the Ptch1 mutant mice.
|
31527798 |
2020 |
Childhood Medulloblastoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In several of these cases, activation of HH-GLI signaling is mediated by overproduction of HH ligands (e.g., prostate cancer), loss-of-function mutations in <i>PTCH1</i> or gain-of-function mutations in <i>SMO</i>, which occur in the majority of basal cell carcinoma (BCC), SHH-subtype medulloblastoma and rhabdomyosarcoma.
|
31244888 |
2019 |
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 |
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 |
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 |
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 |
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 |
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 |
Childhood Medulloblastoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
These findings demonstrate an indispensable role for astrocytes in MB tumorigenesis and reveal a novel Ptch1-independent Shh pathway involved in MB progression.<i></i>.
|
28986380 |
2017 |
Childhood Medulloblastoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mice heterozygous for patched homolog 1 mutations, like heterozygous patched 1 humans, have a higher incidence of Shh subgroup medulloblastoma (MB) and other tumors.
|
26935062 |
2017 |
Childhood Medulloblastoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Patched1 heterozygous (Ptch1 <sup>+/-</sup>) mice, carrying a germ-line heterozygous inactivating mutation in the Ptch1 gene, the Shh receptor and negative regulator of the pathway, are uniquely susceptible to MB development after radiation damage in neonatal cerebellum.
|
29079783 |
2017 |
Childhood Medulloblastoma
|
0.400 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Using Ptch1(+/-) mice to study medulloblastoma progression, we found that Ptch1 loss of heterozygosity (LOH) is an early event that is associated with high levels of cell senescence in preneoplasia.
|
26997276 |
2016 |
Childhood Medulloblastoma
|
0.400 |
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 |
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 |
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 |
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 |
Simultaneous deletion of Zfx along with Ptch1 prevented BCC formation and delayed medulloblastoma development.
|
25164012 |
2014 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma.
|
21188540 |
2011 |
Childhood Medulloblastoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Significantly, loss of MDM2 in Ptch1(+/-) mice, a model for Shh-mediated human medulloblastoma, impedes cerebellar tumorigenesis.
|
21437245 |
2011 |