AF4 gene, frequently translocated with mixed-lineage leukemia ( MLL ) in childhood acute
leukemia, encodes a putative transcriptional activator of the AF4/LAF4/FMR2 (ALF) protein …

The DNA-binding protein PRDM9 directs positioning of the double-strand breaks (DSBs)
that initiate meiotic recombination in mice and humans. Prdm9 is the only mammalian …

Netherton syndrome is a severe autosomal recessive skin disorder characterized by congenital
erythroderma, a specific hair-shaft abnormality, and atopic manifestations with high IgE …

… 7 E). Strong expression was also detected in the gingival mucosa, mainly localized to the …
8 B, C and E). In all genetic keratinizing disorders in children or adults tested, LEKTI …

Lympho-epithelial Kazal-type-related inhibitor (LEKTI) is a putative serine protease inhibitor
encoded by serine protease inhibitor Kazal-type 5 (SPINK5). It is strongly expressed in …

Oxidative stress is a common etiological feature of neurological disorders, although the
pathways that govern defence against reactive oxygen species (ROS) in neurodegeneration …

Background Keratitis–ichthyosis–deafness (KID) syndrome is a rare congenital disorder
characterized by the association of skin lesions, hearing loss and vascularizing keratitis. KID …

… (f) same as e but for 10,000 promoter PRDM9 binding sites split into quartiles of PRDM9
enrichment. (g) The absolute mean enrichment values used to generate plots e and f, split into …

During meiotic recombination, homologue-templated repair of programmed DNA double-strand
breaks (DSBs) produces relatively few crossovers and many difficult-to-detect non-…

Inappropriate regulation of the PI3-kinase/PTEN/Akt kinase-signalling cassette, a key
downstream target of insulin/insulin-like growth factor signalling (IIS), is associated with several …