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2016 ; 3
(3
): e1167158
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gab.com Text
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ATRX mutations and glioblastoma: Impaired DNA damage repair, alternative
lengthening of telomeres, and genetic instability
#MMPMID27314101
Koschmann C
; Lowenstein PR
; Castro MG
Mol Cell Oncol
2016[May]; 3
(3
): e1167158
PMID27314101
show ga
Alpha thalassemia/mental retardation syndrome X-linked (ATRX) is mutated in
nearly a third of pediatric glioblastoma (GBM) patients. We developed an animal
model of ATRX-deficient GBM. Using this model combined with analysis of multiple
human glioma genome-wide datasets, we determined that ATRX mutation leads to
genetic instability, impaired non-homologous end joining, and alternate
lengthening of telomeres (ALT).