BHD Research Blog

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263 posts · 154,450 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
263 posts

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  • May 31, 2013
  • 05:41 AM
  • 403 views

Folliculin regulates stem cells’ exit from pluripotency

by Joana Guedes in BHD Research Blog

A stem cell requires two properties: self-renewal and potency. Self-renewal describes stem cell division to generate more stem cells. Potency describes stem cell division where the new cell takes on different characteristics to the progenitor cell and ultimately becomes a … Continue reading →... Read more »

  • May 24, 2013
  • 04:00 AM
  • 372 views

Video Interview: Professor Vera Krymskaya – University of Pennsylvania, USA

by Joana Guedes in BHD Research Blog

This week we would like to introduce you to the work of Professor Vera Krymskaya, Associate Professor of Medicine at the University of Pennsylvania Perelman School of Medicine. Professor Krymskaya’s primary research interest is how signalling pathways cause disease when … Continue reading →... Read more »

  • May 17, 2013
  • 03:10 AM
  • 453 views

Clinical Trials – stumbling blocks and solutions

by Joana Guedes in BHD Research Blog

Scurvy was a debilitating ailment that commonly affected sailors in the 18th Century. In 1747, James Lind conducted one of the first ever clinical trials, by giving sailors with scurvy different dietary supplements and documenting the effects on their health. In … Continue reading →... Read more »

DiMasi JA, Hansen RW, & Grabowski HG. (2003) The price of innovation: new estimates of drug development costs. Journal of health economics, 22(2), 151-85. PMID: 12606142  

McCormack FX, Inoue Y, Moss J, Singer LG, Strange C, Nakata K, Barker AF, Chapman JT, Brantly ML, Stocks JM.... (2011) Efficacy and safety of sirolimus in lymphangioleiomyomatosis. The New England journal of medicine, 364(17), 1595-606. PMID: 21410393  

  • May 10, 2013
  • 03:04 AM
  • 684 views

Signalling diagram update – a review of two years’ progress

by Joana Guedes in BHD Research Blog

The signalling diagram has been updated to include the following recent research papers: FNIP2 causes MNU-induced apoptosis (Sano et al., 2013) FLCN inhibits MMP9 (Pimenta et al., 2012) FLCN inhibits HIF-1a, mTORC1 and mTORC2 (Nishii et al., 2013) FLCN and … Continue reading →... Read more »

Pimenta SP, Baldi BG, Nascimento EC, Mauad T, Kairalla RA, & Carvalho CR. (2012) Birt-Hogg-Dubé syndrome: metalloproteinase activity and response to doxycycline. Clinics (Sao Paulo, Brazil), 67(12), 1501-4. PMID: 23295609  

Pradella LM, Lang M, Kurelac I, Mariani E, Guerra F, Zuntini R, Tallini G, Mackay A, Reis-Filho JS, Seri M.... (2013) Where Birt-Hogg-Dubé meets Cowden Syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours. European journal of human genetics : EJHG. PMID: 23386036  

  • May 3, 2013
  • 03:00 AM
  • 304 views

Highlights and insights from the Inaugural IRDiRC Conference

by Joana Guedes in BHD Research Blog

As briefly mentioned in last week’s blog, the inaugural conference of the International Rare Disease Research Consortium (IRDiRC) was held in Dublin earlier this month. The conference brought together researchers, clinicians, policy makers and patient organisations from across the globe … Continue reading →... Read more »

  • April 26, 2013
  • 03:00 AM
  • 356 views

Rare diseases – new developments and initiatives

by Joana Guedes in BHD Research Blog

The aim of this year’s Rare Disease Day, Rare Disorders Without Borders, was to promote the message that international collaboration between patients, clinicians and researchers is imperative to find cures for rare diseases. Indeed, this has been the feeling of … Continue reading →... Read more »

McCormack FX, Inoue Y, Moss J, Singer LG, Strange C, Nakata K, Barker AF, Chapman JT, Brantly ML, Stocks JM.... (2011) Efficacy and safety of sirolimus in lymphangioleiomyomatosis. The New England journal of medicine, 364(17), 1595-606. PMID: 21410393  

  • April 19, 2013
  • 06:55 AM
  • 367 views

Loss of FLCN increases longevity in C. elegans

by Joana Guedes in BHD Research Blog

Several signalling pathways – namely the mTOR, HIF and insulin signalling pathways – are known to slow ageing and increase longevity under certain conditions. This is a topic of much research, and was discussed at the recent “Talks about TORCs” … Continue reading →... Read more »

  • April 12, 2013
  • 04:00 AM
  • 415 views

The Third Crick Symposium and Talks about TORCs

by Joana Guedes in BHD Research Blog

Last month, the Third Crick Symposium was held in London (UK), with the aim of discussing ways in which basic biological research could progress from “Genetics to molecules to therapies”. In particular, this meeting brought together chemists, biologists and clinicians … Continue reading →... Read more »

Barquilla, A., Saldivia, M., Diaz, R., Bart, J., Vidal, I., Calvo, E., Hall, M., & Navarro, M. (2012) Third target of rapamycin complex negatively regulates development of quiescence in Trypanosoma brucei. Proceedings of the National Academy of Sciences, 109(36), 14399-14404. DOI: 10.1073/pnas.1210465109  

Gerlinger, M., Rowan, A., Horswell, S., Larkin, J., Endesfelder, D., Gronroos, E., Martinez, P., Matthews, N., Stewart, A., Tarpey, P.... (2012) Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing. New England Journal of Medicine, 366(10), 883-892. DOI: 10.1056/NEJMoa1113205  

Gharbi, H., Fabretti, F., Bharill, P., Rinschen, M., Brinkkötter, S., Frommolt, P., Burst, V., Schermer, B., Benzing, T., & Müller, R. (2013) Loss of the Birt-Hogg-Dubé gene product Folliculin induces longevity in a hypoxia-inducible factor dependent manner. Aging Cell. DOI: 10.1111/acel.12081  

  • April 5, 2013
  • 05:42 AM
  • 802 views

FLCN inhibits cyclin D1 expression

by Joana Guedes in BHD Research Blog

The cell cycle is a tightly controlled process, requiring both oncogenes, which drive cell division and growth, and tumour suppressor genes, which prevent cells from growing and dividing too quickly. BHD Syndrome is caused by autosomal dominant mutations in the … Continue reading →... Read more »

  • March 29, 2013
  • 04:00 AM
  • 788 views

Familial multiple discoid fibromas and topical rapamycin

by Joana Guedes in BHD Research Blog

In August 2011, a blog post highlighted a study by Starink et al. (2011), which described a condition known as familial multiple discoid fibromas (FMDF). This rare skin disorder is characterised by the early onset of multiple firm papules on the … Continue reading →... Read more »

  • March 22, 2013
  • 03:00 AM
  • 401 views

Abstract and Early-bird deadline reminder – Fifth BHD and Second HLRCC Symposium

by Joana Guedes in BHD Research Blog

The Abstract and Early-bird registration deadlines for the Fifth BHD and Second HLRCC Symposium are fast approaching. If you have data that you would like to present at the symposium, the deadline to submit an abstract is on Friday 29th … Continue reading →... Read more »

  • March 15, 2013
  • 04:00 AM
  • 497 views

Video Interview: Dr Frank McCormack – University of Cincinnati & The LAM Foundation, USA

by Joana Guedes in BHD Research Blog

Dr Frank McCormack is a Professor of Medicine and Director of the Division of Pulmonary, Critical Care & Sleep Medicine at the University of Cincinnati. Professor McCormack also leads a research group which investigates pulmonary innate immunity and the mechanisms … Continue reading →... Read more »

Crouch, E., Nikolaidis, N., McCormack, F., McDonald, B., Allen, K., Rynkiewicz, M., Cafarella, T., White, M., Lewnard, K., Leymarie, N.... (2011) Mutagenesis of Surfactant Protein D Informed by Evolution and X-ray Crystallography Enhances Defenses against Influenza A Virus in Vivo. Journal of Biological Chemistry, 286(47), 40681-40692. DOI: 10.1074/jbc.M111.300673  

Henske, E., & McCormack, F. (2012) Lymphangioleiomyomatosis — a wolf in sheep’s clothing. Journal of Clinical Investigation, 122(11), 3807-3816. DOI: 10.1172/JCI58709  

McCormack, F., Inoue, Y., Moss, J., Singer, L., Strange, C., Nakata, K., Barker, A., Chapman, J., Brantly, M., Stocks, J.... (2011) Efficacy and Safety of Sirolimus in Lymphangioleiomyomatosis. New England Journal of Medicine, 364(17), 1595-1606. DOI: 10.1056/NEJMoa1100391  

Young, L., Gulleman, P., Bridges, J., Weaver, T., Deutsch, G., Blackwell, T., & McCormack, F. (2012) The Alveolar Epithelium Determines Susceptibility to Lung Fibrosis in Hermansky-Pudlak Syndrome. American Journal of Respiratory and Critical Care Medicine, 186(10), 1014-1024. DOI: 10.1164/rccm.201207-1206OC  

  • March 8, 2013
  • 06:44 AM
  • 512 views

Inhibition of SSH2 causes synthetic lethality in FLCN-null tumour cells

by Joana Guedes in BHD Research Blog

BHD syndrome is an autosomal dominantly inherited disease, caused by mutations in the FLCN gene and characterised by skin lesions; lung cysts and predisposition to pneumothoraces; and predisposition to kidney cancer. While loss of just one FLCN allele is believed … Continue reading →... Read more »

  • March 1, 2013
  • 03:00 AM
  • 455 views

Syndromic oncocytic tumours: BHD meets Cowden syndrome

by Joana Guedes in BHD Research Blog

Much like BHD, Cowden syndrome (CS) is an autosomal dominant disorder which leads to benign cutaneous lesions and an increased risk of cancer. CS is caused by mutations in PTEN, and its similarities with BHD syndrome have been discussed in … Continue reading →... Read more »

Gasparre G, Romeo G, Rugolo M, & Porcelli AM. (2011) Learning from oncocytic tumors: Why choose inefficient mitochondria?. Biochimica et biophysica acta, 1807(6), 633-42. PMID: 20732299  

Hasumi H, Baba M, Hasumi Y, Huang Y, Oh H, Hughes RM, Klein ME, Takikita S, Nagashima K, Schmidt LS.... (2012) Regulation of mitochondrial oxidative metabolism by tumor suppressor FLCN. Journal of the National Cancer Institute, 104(22), 1750-64. PMID: 23150719  

Pradella LM, Lang M, Kurelac I, Mariani E, Guerra F, Zuntini R, Tallini G, Mackay A, Reis-Filho JS, Seri M.... (2013) Where Birt-Hogg-Dubé meets Cowden Syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours. European journal of human genetics : EJHG. PMID: 23386036  

  • February 22, 2013
  • 06:19 AM
  • 373 views

Rare Disease Day: rare disorders without borders

by Joana Guedes in BHD Research Blog

Rare Disease Day was founded by EURORDIS, an alliance of organisations and individuals who represent those with rare diseases in Europe, in order to raise awareness about rare diseases as a public health issue. The first Rare Disease Day was … Continue reading →... Read more »

Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, Hansen TV, Solly J, Maher ER.... (2009) Birt-Hogg-Dubé syndrome: diagnosis and management. The lancet oncology, 10(12), 1199-206. PMID: 19959076  

  • February 15, 2013
  • 03:00 AM
  • 477 views

The Fifth BHD Symposium and Second HLRCC Symposium 2013

by Joana Guedes in BHD Research Blog

We are happy to announce that registration for the Fifth BHD and Second HLRCC Symposium is now open, with discounted rates available till 31st March 2013. The Symposium will be hosted by Professor Stéphane Richard at the École du Louvre in … Continue reading →... Read more »

  • February 8, 2013
  • 05:34 AM
  • 448 views

Dysregulated mTOR signalling may promote lung cyst development

by Joana Guedes in BHD Research Blog

Although it is generally accepted that FLCN has a role in mTOR signalling, precisely what this role is remains unclear (as illustrated in our signalling diagram and described here). mTOR signalling is known to control cell growth, proliferation and energy … Continue reading →... Read more »

Furuya M, Tanaka R, Koga S, Yatabe Y, Gotoda H, Takagi S, Hsu YH, Fujii T, Okada A, Kuroda N.... (2012) Pulmonary cysts of Birt-Hogg-Dubé syndrome: a clinicopathologic and immunohistochemical study of 9 families. The American journal of surgical pathology, 36(4), 589-600. PMID: 22441547  

Hudson CC, Liu M, Chiang GG, Otterness DM, Loomis DC, Kaper F, Giaccia AJ, & Abraham RT. (2002) Regulation of hypoxia-inducible factor 1alpha expression and function by the mammalian target of rapamycin. Molecular and cellular biology, 22(20), 7004-14. PMID: 12242281  

Laplante M, & Sabatini DM. (2012) mTOR signaling in growth control and disease. Cell, 149(2), 274-93. PMID: 22500797  

  • February 1, 2013
  • 04:45 AM
  • 369 views

BHD and metalloproteinase activity

by Joana Guedes in BHD Research Blog

In 2011, a study by Tobino et al. discussed the differences between BHD syndrome and the cystic lung disease lymphangioleiomyomatosis (LAM), as described here. The importance of these differences has been underlined by a recent case report in which a BHD … Continue reading →... Read more »

Fröhlich BA, Zeitz C, Mátyás G, Alkadhi H, Tuor C, Berger W, & Russi EW. (2008) Novel mutations in the folliculin gene associated with spontaneous pneumothorax. The European respiratory journal : official journal of the European Society for Clinical Respiratory Physiology, 32(5), 1316-20. PMID: 18579543  

Furuya M, Tanaka R, Koga S, Yatabe Y, Gotoda H, Takagi S, Hsu YH, Fujii T, Okada A, Kuroda N.... (2012) Pulmonary cysts of Birt-Hogg-Dubé syndrome: a clinicopathologic and immunohistochemical study of 9 families. The American journal of surgical pathology, 36(4), 589-600. PMID: 22441547  

Jackson C. (2002) Matrix metalloproteinases and angiogenesis. Current opinion in nephrology and hypertension, 11(3), 295-9. PMID: 11981259  

Pimenta SP, Baldi BG, Nascimento EC, Mauad T, Kairalla RA, & Carvalho CR. (2012) Birt-Hogg-Dubé syndrome: metalloproteinase activity and response to doxycycline. Clinics (Sao Paulo, Brazil), 67(12), 1501-4. PMID: 23295609  

  • January 25, 2013
  • 02:00 AM
  • 516 views

Epidemiology and risk prediction of Birt-Hogg-Dubé syndrome

by Joana Guedes in BHD Research Blog

Although the FLCN gene was identified in 2002 by Nickerson et al., studies trying to define the prevalence of BHD and the risks of developing the symptoms of BHD have proven difficult to determine, as discussed in this blog post. … Continue reading →... Read more »

Kluijt I, de Jong D, Teertstra HJ, Axwijk PH, Gille JJ, Bell K, van Rens A, van der Velden AW, Middelton L, & Horenblas S. (2009) Early onset of renal cancer in a family with Birt-Hogg-Dubé syndrome. Clinical genetics, 75(6), 537-43. PMID: 19320655  

Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, Hansen TV, Solly J, Maher ER.... (2009) Birt-Hogg-Dubé syndrome: diagnosis and management. The lancet oncology, 10(12), 1199-206. PMID: 19959076  

Menko FH, Johannesma PC, van Moorselaar RJ, Reinhard R, van Waesberghe JH, Thunnissen E, Houweling AC, Leter EM, Waisfisz Q, van Doorn MB.... (2012) A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation. Familial cancer. PMID: 23264078  

Turnbull C, Perdeaux ER, Pernet D, Naranjo A, Renwick A, Seal S, Munoz-Xicola RM, Hanks S, Slade I, Zachariou A.... (2012) A genome-wide association study identifies susceptibility loci for Wilms tumor. Nature genetics, 44(6), 681-4. PMID: 22544364  

  • January 18, 2013
  • 06:14 AM
  • 370 views

Signalling diagram update

by Joana Guedes in BHD Research Blog

As has been noted in our blog review of 2012, a great deal of research in the BHD field has been published in the past year. Thus, it is only appropriate to reflect these changes in an updated version of … Continue reading →... Read more »

Nookala RK, Langemeyer L, Pacitto A, Ochoa-Montaño B, Donaldson JC, Blaszczyk BK, Chirgadze DY, Barr FA, Bazan JF, & Blundell TL. (2012) Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer. Open biology, 2(8), 120071. PMID: 22977732  

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