Childhood Medulloblastoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The authors performed a retrospective analysis for allelic deletion of the adenomatous polyposis coli (APC) and PTCH gene loci using paraffin embedded medulloblastoma specimens from patients who were admitted to Children's National Medical Center in Washington, DC, between 1982 and 1997.
|
10375116 |
1999 |
Childhood Medulloblastoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
It now appears that constitutive activation of Hedgehog signalling, by inactivating mutations in PTCH1 or activating mutations in the coreceptor SMOH, is required and possibly sufficient for basal cell carcinoma development and also contributes to the formation of a variety of other tumour types, including medulloblastoma and rhabdomyosarcoma.
|
11130178 |
2000 |
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 |
GeneticVariation
|
disease |
BEFREE |
Whereas Gorlin's syndrome patients carry germ-line mutations in the patched (PTCH) gene, Turcot's syndrome patients with MBs carry germ-line mutations of the adenomatous polyposis coli (APC) gene.
|
11585731 |
2001 |
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 |
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 |
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 |
Medulloblastoma and RMS are also present in the murine model for Ptch1 deficiency.
|
12845631 |
2003 |
Childhood Medulloblastoma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
In mice, Ptc1 haploinsufficiency and disruption of DNA repair (DNA ligase IV inactivation) or cell cycle regulation (Kip1, Ink4d, or Ink4c inactivation), in conjunction with p53 dysfunction, predispose to medulloblastoma.
|
14500378 |
2003 |
Childhood Medulloblastoma
|
0.400 |
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 |
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 |
Ptc1(+/-) mice develop spontaneous rhabdomyosarcoma (RMS) and medulloblastoma (MB), as well as BCC following radiation exposure.
|
15925443 |
2006 |
Childhood Medulloblastoma
|
0.400 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
PosttranslationalModification
|
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 |
Childhood Medulloblastoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
To investigate the mechanisms of genetic interactions between Shh and IGF signaling in the cerebellum, we crossed nestin/IGF-I transgenic (IGF-I Tg) mice, in which transgene expression occurs in neuron precursors, with Ptc1+/- knockout mice, a model of medulloblastoma in which cancer develops in a multistage process.
|
20214787 |
2010 |
Childhood Medulloblastoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma.
|
21188540 |
2011 |