Acta neuropathologica communications

· 2 papers in corpus

2018

TERT promoter wild-type glioblastomas show distinct clinical features and frequent PI3K pathway mutations.

doi:10.1186/s40478-018-0613-2 ·PMID:30333046

TERT promoter (TERTp) mutations are found in the majority of World Health Organization (WHO) grade IV adult IDH wild-type glioblastoma (IDH-wt GBM). Here, we characterized the subset of IDH-wt GBMs that do not have TERTp mutations. In a coh…

2013

The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D).

doi:10.1186/2051-5960-1-4 ·PMID:24252196

BackgroundTo investigate the association of DNA nucleotide excision repair (NER) defects with neurological degeneration, cachexia and cancer, we performed autopsies on 4 adult xeroderma pigmentosum (XP) patients with different clinical feat…