PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
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 In addition, Trim32 knockout enhances the incidence of medulloblastoma (MB) formation in the Ptch1 mutant mice. 31527798 2020
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.400 Biomarker disease BEFREE Simultaneous deletion of Zfx along with Ptch1 prevented BCC formation and delayed medulloblastoma development. 25164012 2014
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
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
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.400 GeneticVariation disease BEFREE Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma. 21188540 2011
CUI: C0278510
Disease: Childhood Medulloblastoma
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