-
Article
Open AccessGlioblastoma epigenome profiling identifies SOX10 as a master regulator of molecular tumour subtype
Glioblastoma frequently exhibits therapy-associated subtype transitions to mesenchymal phenotypes with adverse prognosis. Here, we perform multi-omic profiling of 60 glioblastoma primary tumours and use orthog...
-
Article
BCAT1 promotes cell proliferation through amino acid catabolism in gliomas carrying wild-type IDH1
Branched-chain amino acid transaminase 1, the enzyme that initiates the catabolism of branched-chain amino acids, is involved in glioma pathogenesis, making it a potential therapeutic target.
-
Article
DNA sequence polymorphisms in exonic and intronic regions of the human phenylalanine hydroxylase gene aid in the identification of alleles
Five sequence polymorphisms at the phenylalanine hydroxylase (PAH) gene locus were observed to be in tight association with specific alleles of this locus. Since these polymorphisms can be detected using polym...
-
Article
DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish population
Thirty-nine Turkish phenylketonuria (PKU) families were investigated for their DNA haplotypes at the phenylalanine hydroxylase (PAH) locus. There was a threefold higher incidence of consanguinity in the popula...
-
Article
Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population
Restriction fragment length polymorphism (RFLP) haplotypes at the phenylalanine hydroxylase (PAH) locus have been determined in 60 German families with PAH deficiency. Similar to the Danish population, about 9...
