BHD Research Blog

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264 posts · 158,895 views

BHD Research Blog is the official blog of BHDSyndrome.org, the primary online resource for anyone interested in Birt-Hogg-Dubé Syndrome, a rare genetic condition linked to benign skin growths, collapsed lung and kidney cancers. In the BHD Research Blog, we focus on analysing current research in BHD and related fields, as well as considering wider issues relating to rare diseases.

Joana Guedes
264 posts

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  • November 30, 1999
  • 12:00 AM
  • 640 views

Zebrafish model of early stage human ccRCC

by Joana Guedes in BHD Research Blog

Von Hippel–Lindau (VHL) disease is caused by a germline mutation in the VHL gene that leads to the development of several tumors including clear cell renal cell carcinoma (ccRCC) (Maher and Kaelin, 1997). ‘Clear cell’ tumors are characterized by large, proliferating epithelial cells with clear cytoplasm, and a reduced number of cilia. VHL inactivation leads to the stabilization of hypoxia inducible factors 1a and 2a (HIF1a and HIF2a) that leads to up-regulation of genes involve........ Read more »

  • November 30, 1999
  • 12:00 AM
  • 946 views

PD-L1 expression associates with non-inactivated VHL ccRCC

by Joana Guedes in BHD Research Blog

The loss of the of the tumor suppressor gene VHL and the subsequent deregulation of VHL/HIF/VEGF signalling are known to play a role in development of clear cell renal cell carcinoma (ccRCC). Renal tumours associated with BHD syndrome are histologically diverse and include a percentage of ccRCC (Pavlovich et al., 2002). Anti-angiogenic therapies targeting the VHL/HIF/VEGF pathway have emerged in past years (Rini et al., 2006) but the development of resistance to these therapeutic agents is leadi........ Read more »

  • November 30, 1999
  • 12:00 AM
  • 561 views

Highlights from the RLDC 2016 Cincinnati Conference

by Joana Guedes in BHD Research Blog

As mentioned in last week’s blog, the International Rare Lung Diseases Research Conference (RLDC) was held in Cincinnati, USA, 22nd-25th September. Clinicians, scientists, patient organizations, patients and families were brought together to discuss research and clinical trials in rare lung disease and to promote dialogue between the research community and patients.... Read more »

McCormack FX, Inoue Y, Moss J, Singer LG, Strange C, Nakata K, Barker AF, Chapman JT, Brantly ML, Stocks JM, Brown KK, Lynch JP 3rd, Goldberg HJ, Young LR, Kinder BW, Downey GP, Sullivan EJ, Colby TV, McKay RT, Cohen MM, Korbee L, Taveira-DaSilva AM, Lee . (2011) Efficacy and Safety of Sirolimus in Lymphangioleiomyomatosis. New England Journal of Medicine, 365(3), 271-272. DOI: 10.1056/NEJMc1106358  

  • November 30, 1999
  • 12:00 AM
  • 31 views

DHM attenuates obesity-induced slow-twitch-fiber decrease via FLCN/FNIP1/AMPK pathway

by Joana Guedes in BHD Research Blog

Obesity is often associated with decreases in the proportion of skeletal muscle slow-twitch fibers and insulin sensitivity. Slow-twitch fibers are rich in mitochondria and utilize fatty acid oxidative phosphorylation for energy production. In their new study, Zhou et al. (2017) explore the role of the FLCN/FNIP1/AMPK signalling pathway in obesity-induced reductions in slow-twitch fibers and insulin sensitivity in skeletal muscle using high-fat-diet-induced (HFD) obese mice, ob/ob mutant mice, an........ Read more »

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