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Diffuse intrinsic pontine gliomas (DIPG) are a deadly paediatric brain tumours, non-resectable due to brainstem localisation and diffusive growth. Patients with DIPG have a dismal prognosis of 9-12 months of survival with no effective therapy. Over 80% of DIPGs harbour a mutation in histone 3 (H3.3 ...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2023-10-05 | MSV000093052 | MassIVE
Alternative pre-mRNA splicing increases proteomic diversity and provides a potential mechanism underlying both phenotypic diversity and susceptibility to genetic disorders in human populations. To investigate the variation in splicing among humans on a genomewide scale, we use a comprehensive exon-t...
ORGANISM(S): Homo sapiens 
Background Alternative splicing is known to increase the complexity of mammalian transcriptomes since nearly all mammalian genes express multiple pre-mRNA isoforms. However, our knowledge of the extent and function of alternative splicing in early embryonic development is based mainly on a few isola...
ORGANISM(S): Mus musculus 
Whole exome sequencing identified frequent driver mutations in a series of paediatric glioblastomas We used microarray-based profiling to investigate differences in gene expression according to mutational status of driver genes RNA from 27 primary tumor samples was subject to QC by Agilent BioAnalys...
ORGANISM(S): Homo sapiens 
A series of trinucleotide cap analogs functionalized with an amine-terminated linker at the guanosine ribose and immobilized on BrCN-activated Sepharose was prepared. These affinity resins AR-1 (Am), AR-2 (m6Am), and AR-3 (Bn6Am) were incubated with HEK293F cell extract in the presence of GTP to lim...
ORGANISM(S): Homo sapiens (Human) 
2024-03-08 | PXD046838 | Pride
Exome sequencing of familial and sporadic small cell cancer of ovary cases.
Whole exome sequencing of paediatric glioblastoma with mutations reported in the manuscript: Mutations in ACVR1, FGFR1 and TP53 associate with tumor location in histone H3 K27M pediatric midline high-grade astrocytoma
Recurrent somatic H3 K27M mutations characterize midline pediatric high-grade astrocytomas (pHGAs). In 40 treatment-naïve midline pHGAs we find additional somatic mutations specific to tumor location. Gain-of-function mutations in ACVR1 occur in tumors of the pons in conjunction with H3.1K27M, whil...
Data Access Committee EGAC00001000048
Pilocytic Astrocytoma ICGC PedBrain RNA sequencing
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