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Corrupted DNA-binding specificity and ectopic transcription underpin dominant neomorphic mutations in KLF/SP transcription factors

Mutations in the transcription factor, KLF1, are common within certain populations of the world. Heterozygous missense mutations in KLF1 mostly lead to benign phenotypes, but a heterozygous mutation in a DNA-binding residue (E325K in human) results in severe Congenital Dyserythropoietic Anemia type IV (CDA IV); i.e. an autosomal-dominant disorder characterized by neonatal...

Direct targets of pSTAT5 signalling in erythropoiesis

C. Bell, Graham W. Magor, Stephen Huang. Formal analysis: Kevin R. Gillinder, Hugh Tuckey, Graham W. Magor, Andrew C. Perkins. Investigation: Kevin R. Gillinder, Melissa D. Ilsley. Methodology: Kevin ... R. Gillinder, Hugh Tuckey, Charles C. Bell, Graham W. Magor, Stephen Huang, Melissa D. Ilsley. Project administration: Andrew C. Perkins. Resources: Andrew C. Perkins. Supervision: Kevin R

A high-throughput screening strategy for detecting CRISPR-Cas9 induced mutations using next-generation sequencing

Background CRISPR-Cas9 is a revolutionary genome editing technique that allows for efficient and directed alterations of the eukaryotic genome. This relatively new technology has already been used in a large number of ‘loss of function’ experiments in cultured cells. Despite its simplicity and efficiency, screening for mutated clones remains time-consuming, laborious and/or...

A high-throughput screening strategy for detecting CRISPR-Cas9 induced mutations using next-generation sequencing

CRISPR-Cas9 is a revolutionary genome editing technique that allows for efficient and directed alterations of the eukaryotic genome. This relatively new technology has already been used in a large number of ‘loss of function’ experiments in cultured cells. Despite its simplicity and efficiency, screening for mutated clones remains time-consuming, laborious and/or expensive. Here...