Your Resource for Birt-Hogg-Dubé Syndrome
Birt-Hogg-Dubé syndrome (BHD) is caused by mutations in the FLCN gene and characterised by fibrofolliculomas; lung cysts and increased predisposition to pneumothorax; and increased predisposition to kidney cancer. Other symptoms have been reported to be associated with BHD Syndrome, such as parotid tumours and colorectal cancer, however, the numbers of these cases are so small … Read more
The cell cycle is tightly regulated and necessary for development, growth and tissue replacement and repair. The process requires both oncogenes, which drive the cell cycle forward, and tumour suppressor genes, which inhibit the cell cycle and can promote apoptosis in defective cells. Loss of tumour suppressor gene function or over-active oncogene function can lead … Read more
Two weeks ago, more than 100 researchers, clinicians and patients attended the Fifth BHD and Second HLRCC Symposium in Paris, France. The conference was held over two days in the beautiful École du Louvre, which was founded in 1882 to study the collections belonging to the adjacent Musée du Louvre art gallery. The program included … Read more
Cilia are thin protuberances emanating from eukaryotic cells. Cilia fall in to two categories: primary and motile. Primary cilia are found on most cell types in the body, and are required for the cell to sense its environment. Motile cilia tend to be present in higher numbers per cell and beat in a wave-like pattern … Read more