Forum topic: BHD Research Blog

HIF1α is a transcriptional regulator which plays an essential role in the cellular response to hypoxia. As discussed in last week’s blog, prolyl hydroxylases (PHDs) mark HIFα subunits for degradation, but HIF1α can also be regulated by reversible acetylation. Earlier … Continue reading →

Mutations in Fumarate Hydratase (FH) cause HLRCC, a kidney cancer syndrome related to BHD. FH is an enzyme involved in the TCA cycle and its deficiency results in the accumulation of fumarate within the cell. This accumulation leads to increased … Continue reading →

As mentioned in our latest newsletter, several new interviews were filmed at the Third BHD Symposium, and have been posted to BHDSyndrome.org. Dr Derek Lim’s work at the University of Birmingham has been described previously, including his contribution to the … Continue reading →

As we are always trying to improve and update the content on BHDSyndrome.org, it would be great to know what you think of the BHD research blog. Using this survey, we hope to find out what you like and dislike … Continue reading →

In order to further understand the clinical aspects and symptoms of BHD syndrome, it is important that novel findings discovered during patient analysis are published in case reports. This assists in unravelling genotype-phenotype correlations, and also in identifying trends, for … Continue reading →

Tuberous sclerosis complex (TSC) is a multi-system disorder caused by mutations in the TSC1 or TSC2 genes. As illustrated in the signalling diagram on BHDSyndrome.org, TSC1/2 plays an important role in regulating the mammalian target of rapamycin complex 1 (mTORC1), which is involved … Continue reading →

In this month’s lab profile we highlight the work of Dr Ravi Nookala, a structural biologist working in the lab of Professor Sir Tom Blundell in the Department of Biochemistry at the University of Cambridge. Dr Nookala is working on … Continue reading →

In the blog last week, I introduced synthetic lethality as a potential strategy for cancer therapy which targets tumour cells whilst having no effect on healthy tissue. Another synthetic lethality paper has recently been published in Nature, this time targeting … Continue reading →

A major challenge in developing effective cancer therapies is targeting the tumour cells without harming the surrounding healthy tissue. A technique often used to identify such drugs is synthetic lethality. The basis of this technique is that the inhibition of … Continue reading →

In 1985, Starink et al. described patients with hereditary multiple trichodiscomas, a skin condition which was proposed to be distinct from Birt-Hogg-Dubé syndrome. However, trichodiscomas are firm, skin-coloured flat or dome-shaped papules, and their similarity to fibrofolliculomas has meant that … Continue reading →