Aoife M. Waters

TL;DR: Investigation is now needed to explore the developmental and physiological roles of aberrant signal transduction in the manifestation of ciliopathy phenotypes, and utilisation of conditional and inducible murine models to delete or overexpress individual ciliary genes in a spatiotemporal and organ/cell-specific manner should help clarify some of the functional roles of ciliary proteins.

TL;DR: A role for complement pathway factors in fundamental developmental processes and in the etiology of 3MC syndrome are demonstrated and it is shown that CL-K1 serves as a guidance cue for neural crest cell migration.

TL;DR: Three patients with homozygous mutations in the integrin α(3) gene that were associated with disrupted basement-membrane structures and compromised barrier functions in kidney, lung, and skin had a multiorgan disorder that included congenital nephrotic syndrome, interstitial lung disease, and epidermolysis bullosa.

TL;DR: The risk for diarrhea-associated HUS was higher for children infected with Escherichia coli O157 phage type (PT) 2 and PT21/28 than for those infected with other PTs.

TL;DR: P-HUS has increased compared with historic surveys and early mortality remains high (8-fold that of VTEC-induced HUS).