PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Disease: Childhood Medulloblastoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 Biomarker disease BEFREE Medulloblastoma and RMS are also present in the murine model for Ptch1 deficiency. 12845631 2003
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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