Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways

Preeti Bakrania, Maria Efthymiou, Johannes Klein, +18

The American Journal of Human Genetics

Knockout MouseDevelopmental BiologyHedgehog Signaling PathwaysGenetic DisorderDevelopmental Genetics +6

SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions

Preeti Bakrania, David Robinson, David J. Bunyan, +15

British Journal of Ophthalmology

Novel heterozygous<i>OTX2</i>mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma

Alexander W. Wyatt, Preeti Bakrania, David J. Bunyan, +9

Human Mutation

Developmental AnomalyBrain AnomaliesOcular DiseaseDevelopmental BiologyOphthalmology +13

Inhibition of the ERCC1–XPF structure-specific endonuclease to overcome cancer chemoresistance

Ewan M. McNeil, Katy R. Astell, Ann-Marie Ritchie, +11

DNA repair

MedicineMolecular BiologyCancer Cell BiologyCancer ChemoresistanceCancer Genetics +4

Alzheimer therapy with an antibody against N-terminal Abeta 4-X and pyroglutamate Abeta 3-X

Gregory Antonios, Henning Borgers, Bernhard Clemens Richard, +11

Scientific Reports

Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies

Preeti Bakrania, Alexander W. Wyatt, Dave Bunyan, +5

American Journal of Medical Genetics Part A

Developmental AnomalyOcular DiseaseDevelopmental BiologyUncommon CauseOphthalmology +9

Catechols and 3-hydroxypyridones as inhibitors of the DNA repair complex ERCC1-XPF

Timothy M. Chapman, Kevin J. Gillen, Claire Wallace, +10

Bioorganic & Medicinal Chemistry Letters

Genome InstabilityBiochemistryNatural SciencesMolecular BiologyDna Replication +3

N-Hydroxyimides and hydroxypyrimidinones as inhibitors of the DNA repair complex ERCC1–XPF

Timothy M. Chapman, Claire Wallace, Kevin J. Gillen, +8

Bioorganic & Medicinal Chemistry Letters

Genome InstabilityBiochemistryNatural SciencesMolecular BiologyAnti-cancer Agent +3

Discovery of a novel pseudo β-hairpin structure of N-truncated amyloid-β for use as a vaccine against Alzheimer’s disease

Preeti Bakrania, Gareth Hall, Yvonne Bouter, +10

Molecular Psychiatry

Neurodegenerative DiseasesAlzheimer's DiseaseBiochemistryProtein FoldingN-truncated Amyloid-β +8

Donanemab detects a minor fraction of amyloid-β plaques in post-mortem brain tissue of patients with Alzheimer’s disease and Down syndrome

Yvonne Bouter, Hendrik Liekefeld, Steffen Pichlo, +4

Acta Neuropathologica

Down SyndromeNeurodegenerative DiseasesAlzheimer's DiseaseAmyloid-β PlaquesNeurochemical Biomarkers +7