×
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
Medulloblastoma
0.900
Biomarker
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
Medulloblastoma
0.900
Biomarker
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
Medulloblastoma
0.900
Biomarker
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
Medulloblastoma
0.900
CausalMutation
CGI
×
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
Medulloblastoma
0.800
Biomarker
CLINGEN
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
×
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
Medulloblastoma
0.800
Biomarker
GENOMICS_ENGLAND
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
×
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
Medulloblastoma
0.800
Biomarker
CLINGEN
Loss of Trp53 promotes medulloblastoma development but not skin tumorigenesis in Sufu heterozygous mutant mice.
21882258 2012
×
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
Medulloblastoma
0.800
Biomarker
CLINGEN
Loss of SUFU function in familial multiple meningioma.
22958902 2012
×
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
Medulloblastoma
0.800
Biomarker
CLINGEN
Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations.
19833601 2010
×
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
Medulloblastoma
0.800
Biomarker
CLINGEN
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: 51684
Gene Symbol: SUFU
SUFU
Medulloblastoma
0.800
Biomarker
GENOMICS_ENGLAND
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: 51684
Gene Symbol: SUFU
SUFU
Medulloblastoma
0.800
Biomarker
CLINGEN
A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family.
18285427 2008
×
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
Medulloblastoma
0.800
Biomarker
CLINGEN
Loss of suppressor-of-fused function promotes tumorigenesis.
17452975 2007
×
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
Medulloblastoma
0.800
Biomarker
CLINGEN
Genetic elimination of Suppressor of fused reveals an essential repressor function in the mammalian Hedgehog signaling pathway.
16459298 2006
×
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
Medulloblastoma
0.800
GeneticVariation
UNIPROT
Identification of two novel regulated serines in the N terminus of beta-catenin.
12027456 2002
×
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
Medulloblastoma
0.800
Biomarker
CLINGEN
Mutations in SUFU predispose to medulloblastoma.
12068298 2002
×
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
Medulloblastoma
0.800
GeneticVariation
UNIPROT
In this study, 46 sporadic medulloblastomas were screened for the presence of mutations in genes of the Wnt signaling pathway (APC and beta-catenin ).
10666372 2000
×
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
Medulloblastoma
0.800
Biomarker
CLINGEN
Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome.
8681379 1996
×
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
Medulloblastoma
0.800
GenomicAlterations
CGI
×
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
Medulloblastoma
0.800
Biomarker
CTD_human
×
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
Medulloblastoma
0.800
CausalMutation
CGI
×
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
Medulloblastoma
0.800
Biomarker
CTD_human
×
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
Medulloblastoma
0.800
CausalMutation
CGI
×
Entrez Id: 324
Gene Symbol: APC
APC
Medulloblastoma
0.700
GeneticVariation
UNIPROT
APC mutations in sporadic medulloblastomas.
10666372 2000
×
Entrez Id: 324
Gene Symbol: APC
APC
Medulloblastoma
0.700
Biomarker
CTD_human
The molecular basis of Turcot's syndrome.
7661930 1995