Medical Imaging
Recent Submissions
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Precision Medicine in Inflammatory Bowel Disease
(University of Exeter Medicine, 21 October 2019)Background: Individual patient variability may explain why despite a growing number of therapeutic options in the treatment of inflammatory bowel disease (IBD) many patients still suffer from disabling disease. Precision ... -
Using structural analysis in silico to assess the impact of missense variants in MEN1
(Endocrine Society, 27 August 2019)Despite the rapid expansion in recent years of databases reporting either benign or pathogenic genetic variation, the interpretation of novel missense variants can remain challenging, particularly for clinical or genetic ... -
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data
(Elsevier (Cell Press), 10 October 2019)Trio-based whole-exome sequence (WES) data have established confident genetic diagnoses in ∼40% of previously undiagnosed individuals recruited to the Deciphering Developmental Disorders (DDD) study. Here we aim to use the ... -
Impaired regulation of KCC2 phosphorylation leads to neuronal network dysfunction and neurodevelopmental pathology
(American Association for the Advancement of Science, 15 October 2019)KCC2 is a vital neuronal K+/Cl− cotransporter that is implicated in the etiology of numerous neurological diseases. In normal cells, KCC2 undergoes developmental dephosphorylation at Thr906 and Thr1007. We engineered mice ... -
Developmentally regulated KCC2 phosphorylation is essential for dynamic GABA-mediated inhibition and survival
(American Association for the Advancement of Science, 15 October 2019)Despite its importance for γ-aminobutyric acid (GABA) inhibition and involvement in neurodevelopmental disease, the regulatory mechanisms of the K+/Cl− cotransporter KCC2 (encoded by SLC12A5) during maturation of the central ...