Month: October 2012

Recent studies have implicated FLCN in numerous cellular pathways through the identification of novel interacting partners, such as Plakophilin-4 (which is discussed in a previous blog post). Another study has now demonstrated that the Drosophila homologue of FLCN (dFLCN) appears to regulate ribosomal RNA (rRNA) synthesis through its interaction with Regulatory particle triple-A ATPase 4 (Rpt4) (Gaur et al., 2012). In this study, … Read more

Patient case studies are an important part of clinical investigations into any disease. Such studies can lead to the identification of associated symptoms, genotype-phenotype correlations and further understanding regarding the onset and progression of symptoms. The only symptoms currently associated with BHD Syndrome are fibrofolliculomas, lung cysts, pneumothorax, renal cysts and renal tumours. However, several … Read more

Dr W. Marston Linehan is Chief of the Urologic Oncology Branch (UOB), which is part of the National Cancer Institute at the National Institutes of Health (NIH) in the United States. Dr Linehan has been at the NIH for 30 years, and is one of the world’s foremost experts in researching and treating genitourinary cancers. In recognition of this, Dr Linehan has … Read more

As mentioned in our most recent Newsletter, there has been a substantial redesign of the BHD Literature Database. This redesign was a product of a recent internship programme which involved both university students and graduates from a variety of backgrounds in the biological sciences. In particular, Belinda Lo from Imperial College London was instrumental in … Read more