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
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  • January 18, 2013
  • 06:14 AM
  • 377 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  

  • January 11, 2013
  • 05:45 AM
  • 404 views

BHD and apoptosis: a review

by Joana Guedes in BHD Research Blog

Last week’s blog described a recent paper by Sano et al., which showed that FNIP2 is required for apoptosis in human cells. Additional studies have shown that FLCN and FNIP1 also function in apoptotic pathways, thus we have decided to … Continue reading →... Read more »

Behrends C, Sowa ME, Gygi SP, & Harper JW. (2010) Network organization of the human autophagy system. Nature, 466(7302), 68-76. PMID: 20562859  

Favaloro B, Allocati N, Graziano V, Di Ilio C, & De Laurenzi V. (2012) Role of apoptosis in disease. Aging, 4(5), 330-49. PMID: 22683550  

Gobé G, Rubin M, Williams G, Sawczuk I, & Buttyan R. (2002) Apoptosis and expression of Bcl-2, Bcl-XL, and Bax in renal cell carcinomas. Cancer investigation, 20(3), 324-32. PMID: 12025227  

Martinez-Ruiz G, Maldonado V, Ceballos-Cancino G, Grajeda JP, & Melendez-Zajgla J. (2008) Role of Smac/DIABLO in cancer progression. Journal of experimental , 48. PMID: 18822137  

Olsson M, & Zhivotovsky B. (2011) Caspases and cancer. Cell death and differentiation, 18(9), 1441-9. PMID: 21455218  

Reiman A, Lu X, Seabra L, Boora U, Nahorski MS, Wei W, & Maher ER. (2012) Gene expression and protein array studies of folliculin-regulated pathways. Anticancer research, 32(11), 4663-70. PMID: 23155228  

  • January 4, 2013
  • 09:50 AM
  • 528 views

Research update: FLCN-FNIP2-AMPK and MNU-induced apoptosis

by Joana Guedes in BHD Research Blog

Previous studies in mouse cell lines have suggested that FLCN, FNIP2 and AMPK are involved in N-Nitroso-N-methylurea (MNU)-induced apoptosis (Lim et al., 2011 – described here). Using a human cell line, further work from the same group has now shown that … Continue reading →... Read more »

  • December 28, 2012
  • 05:08 AM
  • 418 views

BHD Research Blog: 2012 Annual Review

by Joana Guedes in BHD Research Blog

With the New Year upon us, we thought we would use this week’s blog to revisit those studies we’ve particularly enjoyed reading and writing about in the past 12 months. In August, a landmark paper by Nookala et al., (2012) … Continue reading →... Read more »

Gaur K, Li J, Wang D, Dutta P, Yan SJ, Tsurumi A, Land H, Wu G, & Li WX. (2013) The Birt-Hogg-Dube tumor suppressor Folliculin negatively regulates ribosomal RNA synthesis. Human molecular genetics, 22(2), 284-99. PMID: 23077212  

Mekhail K, Rivero-Lopez L, Khacho M, & Lee S. (2006) Restriction of rRNA synthesis by VHL maintains energy equilibrium under hypoxia. Cell cycle (Georgetown, Tex.), 5(20), 2401-13. PMID: 17102617  

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  

Park H, Staehling K, Tsang M, Appleby MW, Brunkow ME, Margineantu D, Hockenbery DM, Habib T, Liggitt HD, Carlson G.... (2012) Disruption of Fnip1 reveals a metabolic checkpoint controlling B lymphocyte development. Immunity, 36(5), 769-81. PMID: 22608497  

Rathinam R, Berrier A, & Alahari SK. (2011) Role of Rho GTPases and their regulators in cancer progression. Frontiers in bioscience : a journal and virtual library, 2561-71. PMID: 21622195  

Reiman A, Lu X, Seabra L, Boora U, Nahorski MS, Wei W, & Maher ER. (2012) Gene Expression and Protein Array Studies of Folliculin-regulated Pathways. Anticancer research, 32(11), 4663-70. PMID: 23155228  

  • December 21, 2012
  • 10:49 AM
  • 409 views

Research involving Rab35 and Rab27B

by Joana Guedes in BHD Research Blog

As discussed in a previous blog post, the Rab family of small GTPases are known to be involved in membrane trafficking.  Two members of this family have now been associated with FLCN: Rab27B, using microarray studies (Hong et al., 2010; … Continue reading →... Read more »

Charrasse S, Comunale F, De Rossi S, Echard A, & Gauthier-Rouvière C. (2012) Rab35 regulates cadherin-mediated adherens junction formation and myoblast fusion. Molecular biology of the cell. PMID: 23197472  

Galvez T, Gilleron J, Zerial M, & O'Sullivan GA. (2012) SnapShot: Mammalian Rab proteins in endocytic trafficking. Cell, 151(1), 234-23400. PMID: 23021225  

McGrath JA, Stone KL, Begum R, Simpson MA, Dopping-Hepenstal PJ, Liu L, McMillan JR, South AP, Pourreyron C, McLean WH.... (2012) Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility. American journal of human genetics, 91(6), 1115-21. PMID: 23176819  

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  

Reiman A, Lu X, Seabra L, Boora U, Nahorski MS, Wei W, & Maher ER. (2012) Gene Expression and Protein Array Studies of Folliculin-regulated Pathways. Anticancer research, 32(11), 4663-70. PMID: 23155228  

  • December 14, 2012
  • 04:00 AM
  • 513 views

Video Interview: Dr Ilene Sussman, VHL Family Alliance, USA

by Joana Guedes in BHD Research Blog

Dr Ilene Sussman became Executive Director of the VHL Family Alliance in 2011, after leading the North American Thrombosis Forum, where she was responsible for developing new education and advocacy initiatives. Von Hippel-Lindau (VHL) disease is a multisystemic cancer syndrome … Continue reading →... Read more »

Maher ER, Iselius L, Yates JR, Littler M, Benjamin C, Harris R, Sampson J, Williams A, Ferguson-Smith MA, & Morton N. (1991) Von Hippel-Lindau disease: a genetic study. Journal of medical genetics, 28(7), 443-7. PMID: 1895313  

Maher ER, Neumann HP, & Richard S. (2011) von Hippel-Lindau disease: a clinical and scientific review. European journal of human genetics : EJHG, 19(6), 617-23. PMID: 21386872  

  • December 7, 2012
  • 03:00 AM
  • 436 views

The Fifth BHD Symposium – 28-29th June 2013

by Joana Guedes in BHD Research Blog

It is our pleasure to announce the Fifth BHD Symposium which will be hosted by Professor Stéphane Richard at the École du Louvre in Paris, France on 28-29th June 2013. As with previous Symposia, the aim is to promote a … Continue reading →... Read more »

  • November 30, 2012
  • 04:36 AM
  • 488 views

Microarray analysis identifies potential FLCN targets

by Joana Guedes in BHD Research Blog

Although FLCN has been shown to function in several biological pathways, such as mTOR and AMPK signalling (as illustrated in our signalling diagram), its precise function is currently unknown. In order to identify novel FLCN targets, Reiman et al. used … Continue reading →... Read more »

Hendrix A, Braems G, Bracke M, Seabra M, Gahl W, De Wever O, & Westbroek W. (2010) The secretory small GTPase Rab27B as a marker for breast cancer progression. Oncotarget, 1(4), 304-8. PMID: 21304180  

Koromilas AE, Roy S, Barber GN, Katze MG, & Sonenberg N. (1992) Malignant transformation by a mutant of the IFN-inducible dsRNA-dependent protein kinase. Science (New York, N.Y.), 257(5077), 1685-9. PMID: 1382315  

Martinez-Ruiz G, Maldonado V, Ceballos-Cancino G, Grajeda JP, & Melendez-Zajgla J. (2008) Role of Smac/DIABLO in cancer progression. Journal of experimental , 48. PMID: 18822137  

Mizutani Y, Nakanishi H, Yamamoto K, Li YN, Matsubara H, Mikami K, Okihara K, Kawauchi A, Bonavida B, & Miki T. (2005) Downregulation of Smac/DIABLO expression in renal cell carcinoma and its prognostic significance. Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 23(3), 448-54. PMID: 15572731  

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  

Reiman A, Lu X, Seabra L, Boora U, Nahorski MS, Wei W, & Maher ER. (2012) Gene Expression and Protein Array Studies of Folliculin-regulated Pathways. Anticancer research, 32(11), 4663-70. PMID: 23155228  

  • November 23, 2012
  • 07:23 AM
  • 490 views

FLCN and mitochondrial oxidative metabolism

by Joana Guedes in BHD Research Blog

Previous work has shown that FLCN appears to play a role in cellular metabolism (Klomp et al., 2010; Preston et al., 2011). In particular, Klomp et al. observed that human BHD tumours had a high expression of mitochondrial and oxidative … Continue reading →... Read more »

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  

Lin J, Wu H, Tarr PT, Zhang CY, Wu Z, Boss O, Michael LF, Puigserver P, Isotani E, Olson EN.... (2002) Transcriptional co-activator PGC-1 alpha drives the formation of slow-twitch muscle fibres. Nature, 418(6899), 797-801. PMID: 12181572  

  • November 16, 2012
  • 03:00 AM
  • 448 views

The role of FLCN in RhoA signalling and cell-cell adhesion

by Joana Guedes in BHD Research Blog

As discussed in a previous blog post, Plakophilin-4 (PKP4) is a recently discovered FLCN interactor that regulates RhoA signalling (Nahorski et al., 2012). A similar set of experiments by Medvetz et al. (2012) also found that PKP4 interacts with FLCN; … Continue reading →... Read more »

Hudon V, Sabourin S, Dydensborg AB, Kottis V, Ghazi A, Paquet M, Crosby K, Pomerleau V, Uetani N, & Pause A. (2010) Renal tumour suppressor function of the Birt-Hogg-Dubé syndrome gene product folliculin. Journal of medical genetics, 47(3), 182-9. PMID: 19843504  

McMullan R, Lax S, Robertson VH, Radford DJ, Broad S, Watt FM, Rowles A, Croft DR, Olson MF, & Hotchin NA. (2003) Keratinocyte differentiation is regulated by the Rho and ROCK signaling pathway. Current biology : CB, 13(24), 2185-9. PMID: 14680635  

Perez-Moreno M, Davis MA, Wong E, Pasolli HA, Reynolds AB, & Fuchs E. (2006) p120-catenin mediates inflammatory responses in the skin. Cell, 124(3), 631-44. PMID: 16469707  

Zandy NL, Playford M, & Pendergast AM. (2007) Abl tyrosine kinases regulate cell-cell adhesion through Rho GTPases. Proceedings of the National Academy of Sciences of the United States of America, 104(45), 17686-91. PMID: 17965237  

  • November 9, 2012
  • 03:00 AM
  • 518 views

Renal cell carcinoma and the WNT/β-catenin pathway

by Joana Guedes in BHD Research Blog

The highly conserved WNT pathway is involved in the transduction of signals from the cell surface to the nucleus, and it is known to play a key role in embryonic development, adult tissue maintenance and tumourigenesis (Klaus & Birchmeier, 2008). … Continue reading →... Read more »

  • November 2, 2012
  • 10:14 AM
  • 687 views

Nucleolar VHL regulates rRNA synthesis under hypoxic conditions

by Joana Guedes in BHD Research Blog

In last week’s blog, the role of FLCN in inhibiting rRNA synthesis was discussed. This week’s blog discusses a related study by Mekhail et al. (2006) that found rRNA synthesis can also be inhibited by nucleolar VHL. The authors demonstrated … Continue reading →... Read more »

Baba M, Hong SB, Sharma N, Warren MB, Nickerson ML, Iwamatsu A, Esposito D, Gillette WK, Hopkins RF 3rd, Hartley JL.... (2006) Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. Proceedings of the National Academy of Sciences of the United States of America, 103(42), 15552-7. PMID: 17028174  

Mekhail K, Gunaratnam L, Bonicalzi ME, & Lee S. (2004) HIF activation by pH-dependent nucleolar sequestration of VHL. Nature cell biology, 6(7), 642-7. PMID: 15181450  

Mekhail K, Rivero-Lopez L, Khacho M, & Lee S. (2006) Restriction of rRNA synthesis by VHL maintains energy equilibrium under hypoxia. Cell cycle (Georgetown, Tex.), 5(20), 2401-13. PMID: 17102617  

  • October 26, 2012
  • 07:38 AM
  • 584 views

FLCN regulates ribosomal RNA synthesis

by Joana Guedes in BHD Research Blog

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 … Continue reading →... Read more »

  • October 19, 2012
  • 04:00 AM
  • 598 views

BHD case reports

by Joana Guedes in BHD Research Blog

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 … Continue reading →... Read more »

Lindor NM, Kasperbauer J, Lewis JE, & Pittelkow M. (2012) Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors. Hereditary cancer in clinical practice, 10(1), 13. PMID: 23050938  

Liu V, Kwan T, & Page EH. (2000) Parotid oncocytoma in the Birt-Hogg-Dubé syndrome. Journal of the American Academy of Dermatology, 43(6), 1120-2. PMID: 11100034  

Schmidt LS, Nickerson ML, Warren MB, Glenn GM, Toro JR, Merino MJ, Turner ML, Choyke PL, Sharma N, Peterson J.... (2005) Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. American journal of human genetics, 76(6), 1023-33. PMID: 15852235  

Palmirotta R, Donati P, Savonarola A, Cota C, Ferroni P, & Guadagni F. (2008) Birt-Hogg-Dubé (BHD) syndrome: report of two novel germline mutations in the folliculin (FLCN) gene. European journal of dermatology : EJD, 18(4), 382-6. PMID: 18573707  

Kashiwada T, Shimizu H, Tamura K, Seyama K, Horie Y, & Mizoo A. (2012) Birt-Hogg-Dubé syndrome and familial adenomatous polyposis: an association or a coincidence?. Internal medicine (Tokyo, Japan), 51(13), 1789-92. PMID: 22790147  

Tobino K, & Seyama K. (2012) Birt-Hogg-Dubé syndrome with renal angiomyolipoma. Internal medicine (Tokyo, Japan), 51(10), 1279-80. PMID: 22687807  

  • October 12, 2012
  • 04:00 AM
  • 639 views

Video interview: Dr W. Marston Linehan – National Cancer Institute, NIH, USA

by Joana Guedes in BHD Research Blog

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 … Continue reading →... Read more »

Barrisford GW, Singer EA, Rosner IL, Linehan WM, & Bratslavsky G. (2011) Familial renal cancer: molecular genetics and surgical management. International journal of surgical oncology, 658767. PMID: 22312516  

Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, Stackhouse T, Kuzmin I, Modi W, & Geil L. (1993) Identification of the von Hippel-Lindau disease tumor suppressor gene. Science (New York, N.Y.), 260(5112), 1317-20. PMID: 8493574  

Linehan WM, & Ricketts CJ. (2012) The metabolic basis of kidney cancer. Seminars in cancer biology. PMID: 22705279  

  • September 28, 2012
  • 04:37 AM
  • 479 views

FLCN phosphorylation and the cell cycle

by Joana Guedes in BHD Research Blog

FLCN phosphorylation was first identified by Baba et al. (2006) when multiple FLCN bands were seen on Western blots. Subsequent studies identified and characterised Serine 62 (S62) and Serine 302 (S302) as phosphorylated residues (Wang et al., 2010; Piao et … Continue reading →... Read more »

Dephoure N, Zhou C, Villén J, Beausoleil SA, Bakalarski CE, Elledge SJ, & Gygi SP. (2008) A quantitative atlas of mitotic phosphorylation. Proceedings of the National Academy of Sciences of the United States of America, 105(31), 10762-7. PMID: 18669648  

Baba M, Hong SB, Sharma N, Warren MB, Nickerson ML, Iwamatsu A, Esposito D, Gillette WK, Hopkins RF 3rd, Hartley JL.... (2006) Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. Proceedings of the National Academy of Sciences of the United States of America, 103(42), 15552-7. PMID: 17028174  

Wang L, Kobayashi T, Piao X, Shiono M, Takagi Y, Mineki R, Taka H, Zhang D, Abe M, Sun G.... (2010) Serine 62 is a phosphorylation site in folliculin, the Birt-Hogg-Dubé gene product. FEBS letters, 584(1), 39-43. PMID: 19914239  

Piao X, Kobayashi T, Wang L, Shiono M, Takagi Y, Sun G, Abe M, Hagiwara Y, Zhang D, Okimoto K.... (2009) Regulation of folliculin (the BHD gene product) phosphorylation by Tsc2-mTOR pathway. Biochemical and biophysical research communications, 389(1), 16-21. PMID: 19695222  

  • September 21, 2012
  • 04:29 AM
  • 482 views

Plakophilin-4 is a novel FLCN interacting protein

by Joana Guedes in BHD Research Blog

The identification of the FLCN interacting proteins FNIP1 and FNIP2 led to the discovery that FLCN functions in the AMPK signalling pathway (Baba et al., 2006; Hasumi et al., 2008; Takagi et al., 2008). Nahorski et al. (2012) have now … Continue reading →... Read more »

Baba M, Hong SB, Sharma N, Warren MB, Nickerson ML, Iwamatsu A, Esposito D, Gillette WK, Hopkins RF 3rd, Hartley JL.... (2006) Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. Proceedings of the National Academy of Sciences of the United States of America, 103(42), 15552-7. PMID: 17028174  

Hasumi H, Baba M, Hong SB, Hasumi Y, Huang Y, Yao M, Valera VA, Linehan WM, & Schmidt LS. (2008) Identification and characterization of a novel folliculin-interacting protein FNIP2. Gene, 415(1-2), 60-7. PMID: 18403135  

Takagi Y, Kobayashi T, Shiono M, Wang L, Piao X, Sun G, Zhang D, Abe M, Hagiwara Y, Takahashi K.... (2008) Interaction of folliculin (Birt-Hogg-Dubé gene product) with a novel Fnip1-like (FnipL/Fnip2) protein. Oncogene, 27(40), 5339-47. PMID: 18663353  

  • September 14, 2012
  • 04:00 AM
  • 558 views

A third subunit of the TSC1-TSC2 complex

by Joana Guedes in BHD Research Blog

Mutations in TSC1 and TSC2 are involved in the development of tuberous sclerosis complex (TSC) and lymphangioleiomyomatosis (LAM). These two proteins are thought to function as a heterodimer, where TSC1 stabilises TSC2 and enhances its GTPase-activating protein (GAP) activity. It … Continue reading →... Read more »

Dibble CC, Elis W, Menon S, Qin W, Klekota J, Asara JM, Finan PM, Kwiatkowski DJ, Murphy LO, & Manning BD. (2012) TBC1D7 Is a Third Subunit of the TSC1-TSC2 Complex Upstream of mTORC1. Molecular cell, 47(4), 535-46. PMID: 22795129  

Nookala RK, Langemeyer L, Pacitto A, Ochoa-Montano 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 Biol. . DOI: 10.1098/rsob.120071  

  • September 7, 2012
  • 04:31 AM
  • 556 views

FLCN and the kinesin-1 binding motif

by Joana Guedes in BHD Research Blog

Kinesin-1 is a motor protein that is made up of two kinesin heavy chains (KHCs) – which are responsible for the motor activity of the complex, and two kinesin light chains (KLCs) – which bind cargo in many cases. This … Continue reading →... Read more »

  • August 31, 2012
  • 05:00 AM
  • 542 views

Video interview: Dr Laura Schmidt – National Cancer Institute, NIH, USA

by Joana Guedes in BHD Research Blog

This week we would like to introduce you to the work of Dr Laura Schmidt, a staff scientist in the Urologic Oncology Branch at the National Institutes of Health in Bethesda, USA. Dr Schmidt was instrumental in the identification of … Continue reading →... Read more »

Gnarra JR, Tory K, Weng Y, Schmidt L, Wei MH, Li H, Latif F, Liu S, Chen F, & Duh FM. (1994) Mutations of the VHL tumour suppressor gene in renal carcinoma. Nature genetics, 7(1), 85-90. PMID: 7915601  

Toro JR, Nickerson ML, Wei MH, Warren MB, Glenn GM, Turner ML, Stewart L, Duray P, Tourre O, Sharma N.... (2003) Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. American journal of human genetics, 73(1), 95-106. PMID: 12772087  

Baba M, Hong SB, Sharma N, Warren MB, Nickerson ML, Iwamatsu A, Esposito D, Gillette WK, Hopkins RF 3rd, Hartley JL.... (2006) Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. Proceedings of the National Academy of Sciences of the United States of America, 103(42), 15552-7. PMID: 17028174  

Hasumi H, Baba M, Hong SB, Hasumi Y, Huang Y, Yao M, Valera VA, Linehan WM, & Schmidt LS. (2008) Identification and characterization of a novel folliculin-interacting protein FNIP2. Gene, 415(1-2), 60-7. PMID: 18403135  

Benhammou JN, Vocke CD, Santani A, Schmidt LS, Baba M, Seyama K, Wu X, Korolevich S, Nathanson KL, Stolle CA.... (2011) Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome. Genes, chromosomes , 50(6), 466-77. PMID: 21412933  

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