Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
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
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.900 GeneticVariation disease BEFREE Somatic inactivating mutations in PTCH1 and SUFU each occur in approximately 10% of medulloblastomas. 21188540 2011
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
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
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
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
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.900 Biomarker disease BEFREE Significantly, loss of MDM2 in Ptch1(+/-) mice, a model for Shh-mediated human medulloblastoma, impedes cerebellar tumorigenesis. 21437245 2011
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
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
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
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
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
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
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
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
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.900 Biomarker disease MGD Identification of CD15 as a marker for tumor-propagating cells in a mouse model of medulloblastoma. 19185848 2009
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
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
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
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
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
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
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
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
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
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
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
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
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
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
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
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
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
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
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.900 Biomarker disease MGD A novel somatic mouse model to survey tumorigenic potential applied to the Hedgehog pathway. 17047082 2006
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
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
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
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
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.900 Biomarker disease BEFREE Ptc1(+/-) mice develop spontaneous rhabdomyosarcoma (RMS) and medulloblastoma (MB), as well as BCC following radiation exposure. 15925443 2006
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
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
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
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