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UnknownChina’s Legal Protection System for Pangolins: Past, Present, and Future
Not available
S-EPMC12383201 | biostudies-literature
ProteomicsTruncated N-glycans destabilize POMT1 and POMT2 but do not limit cellular O-mannosylation in HEK293 cells
Protein O-mannosylation is initiated by the ER-resident enzymes POMT1 and POMT2, both of which carry multiple N-glycans essential for proper folding and activity. Although congenital disorders of glycosylation type I (CDG-I) disrupt the early N-glycosylation process, their impact on POMT biogenesis ...
ORGANISM(S): Homo Sapiens 
2026-04-13 | PXD073179 | panorama
UnknownHuman medulloblastoma samples
Not available
ORGANISM(S): Homo sapiens 
S-ECPF-GEOD-28245 | biostudies-other
TranscriptomicsHuman medulloblastoma samples
Purpose Integrated genomics approaches have identified at least four distinct biological variants in medulloblastoma: WNT, SHH, group C, and group D. Non-WNT/Non-SHH tumors are associated with metastatic dissemination and an unfavorable prognosis. Additional markers may enhance outcome prediction in...
ORGANISM(S): Homo sapiens 
2011-07-01 | E-GEOD-28245 | biostudies-arrayexpress
GenomicsMedullo-PAN-GATC - samples
Exome controls for 70 individuals, PAN-GATC cohort, sequenced on Illumina machines from the paper "Germline Elongator mutations in Sonic Hedgehog medulloblastoma" (Waszak et al. 2020 Nature).
EGAD00001006661 | EGA
GenomicsLocation specific ACVR1, FGFR1 and TP53 mutations in pediatric glioblastomas in conjunction with H3.3 K27M.
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...
EGAS00001000720 | EGA
Genomicsena-DATASET-MUGQIC-22-03-2014-14:08:20:709-444 - samples
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
EGAD00001000792 | EGA
Genomicsena-DATASET-MUGQIC-21-03-2014-16:25:00:707-841 - samples
Exome sequencing of familial and sporadic small cell cancer of ovary cases.
EGAD00001000791 | EGA
GenomicsMcGill-DKFZ Pediatric Brain Tumour Consortium
Data Access Committee EGAC00001000048
EGAC00001000048 | EGA
GenomicsGermline elongator mutations in sonic hedgehog medulloblastoma
Cancer genomics has illuminated a wide spectrum of genes and core molecular processes contributing to human malignancy. Still, the genetic and molecular basis of many cancers remains only partially explained. Genetic predisposition accounts for 5-10% of cancer diagnoses and genetic events cooperatin...
EGAS00001004126 | EGA
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