H3-3A, H3.3 histone A, 3020

N. diseases: 134; N. variants: 4
Disease: Childhood Glioblastoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.070 GeneticVariation disease BEFREE These results demonstrate that we have developed a new reliable procedure for detecting the H3F3A K27M mutation in pediatric glioblastoma patient samples. 26376656 2016
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.070 GeneticVariation disease BEFREE Histone H3.3 (H3F3A) mutation in the codon for lysine 27 (K27M) has been found as driver mutations in pediatric glioblastoma and has been suggested to play critical roles in the pathogenesis of thalamic gliomas and diffuse intrinsic pontine gliomas. 27392443 2016
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.070 Biomarker disease BEFREE Genome-wide methylation profiling identifies an essential role of reactive oxygen species in pediatric glioblastoma multiforme and validates a methylome specific for H3 histone family 3A with absence of G-CIMP/isocitrate dehydrogenase 1 mutation. 24997139 2014
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.070 GeneticVariation disease BEFREE Mutations in H3F3A, which encodes histone H3.3, commonly occur in pediatric glioblastoma. 24285547 2014
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.070 GeneticVariation disease BEFREE Notably, we identified the same FGFR1 mutations in a subset of H3F3A-mutated pediatric glioblastoma with additional alterations in the NF1 gene. 23817572 2013
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.070 GeneticVariation disease BEFREE Recurrent mutations in H3F3A at K27 and G34 are frequent in pediatric glioblastoma, but it is unclear how these mutations promote tumorigenesis. 23658294 2013
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.070 Biomarker disease BEFREE Prevalences of mutations of isocitrate dehydrogenase 1 (IDH1) and histone H3.3 (H3F3A), the glioma cytosine-phosphate-guanine island methylator phenotype (G-CIMP), and methylation of alkylpurine DNA N-glycosylase (APNG) and peroxiredoxin 1 (PRDX1) promoters were determined in a representative biomarker subset (n = 126 patients with anaplastic astrocytoma or glioblastoma) from the NOA-08 trial. 23595628 2013