Month: December 2015

With the end of the year fast approaching, we thought we would use this week’s blog to review the studies we’ve particularly enjoyed writing about. In the spring Iribe et al. characterised the expression patterns in BHD renal tumours with Furuya et al. focusing on FLCN and GPNMB expression. The development of a screening panel … Read more

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare genetic condition caused by mutations in fumarate hydratase (FH). HLRCC patients are at risk of developing type 2 papillary renal cell carcinoma (pRCC2) which typically has an early onset with high metastatic potential. Existing targeted treatments have very limited response rates in both primary and … Read more

Solving the crystal structure of FLCN and subsequent bioinformatics studies identified FLCN, FNIP1 and FNIP2 as DENN-family proteins (Nookala et al., 2012, Zhang et al., 2012). The yeast orthologues of FLCN and FNIP1/2 are proposed to be Lst7 and Lst4 respectively. Pacitto et al. (2015) have now solved the crystal structure of Kluyveromyces lactis Lst4, … Read more

As discussed in our blog post from the beginning of this year a greater level of BHD awareness among pulmonologists and associated professionals could help increase early diagnoses. It has been reported that up to 10% of spontaneous pneumothorax patients are carrying FLCN mutations (Ren et al., 2008, Johannesma et al., 2015, Ding et al., … Read more