John A. McGrath

TL;DR: In this study, it is shown that FH-deficient cells and tumours accumulate fumarate and, to a lesser extent, succinate, and in situ analyses showed that these tumours also have over-expression of hypoxia-inducible factor 1alpha, activation of HIF1alphatargets, and high microvessel density.

TL;DR: A revised classification system that takes into account the new advances, as well as encompassing other inherited diseases that should also be included within the EB spectrum, based on the presence of blistering and mechanical fragility is presented.

TL;DR: In this article, the authors presented a new approach to classification of epidermolysis bullosa (EB) that takes into account sequentially the major EB type present (based on identification of the level of skin cleavage), phenotypic characteristics (distribution and severity of disease activity; specific extracutaneous features; other), mode of inheritance, targeted protein and its relative expression in skin, gene involved and type(s) of mutation present, and specific mutation(s), and their location(s).

TL;DR: A kindred with a rare, recessively inherited type of alopecia universalis was used to search for a locus by homozygosity mapping, and linkage was established in a 6-centimorgan interval on chromosome 8p12 (the logarithm of the odds favoring linkage score was 6.19 as discussed by the authors ).