Introducing TFE3 to the FLCN pathway

It is an exciting time for the BHD community, as the pace of BHD research increases ever more. In view of this, it would be of note to discuss another study by Hong et al. (2010), which sheds yet more light on FLCN and its interactions in the context of BHD syndrome. In this paper, … Read more

A FLCN exon 14 deletion mutation

Back in October, Duncan brought to your attention a paper by Sempau et al. in which a novel entire exon 14 deletion was identified in a BHD patient. At the time, the article was only available in Spanish, but now the English translation has been released, I thought I would expand on his post a … Read more

Renal cell carcinoma susceptibility

A paper by Purdue et al. recently caught my eye, which highlights the power of collaboration within the scientific community, and also sheds more light on the factors affecting renal cell carcinoma (RCC) risk. This large, international consortium conducted a genome-wide association study of RCC from the combined data-sets of thousands of individuals from both … Read more