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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.
Lizzie Perdeaux
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by Lizzie Perdeaux in BHD Research Blog
Many studies into BHD syndrome have investigated the prevalence of pneumothorax and renal cell carcinoma amongst FLCN mutation carriers. Previous estimations of the RCC risk have varied from 6.5% to 34% (Toro et al., 2008), and for pneumothorax, from 24% … Continue reading →... Read more »
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
Toro JR, Pautler SE, Stewart L, Glenn GM, Weinreich M, Toure O, Wei MH, Schmidt LS, Davis L, Zbar B.... (2007) Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome. American journal of respiratory and critical care medicine, 175(10), 1044-53. PMID: 17322109
Toro JR, Wei MH, Glenn GM, Weinreich M, Toure O, Vocke C, Turner M, Choyke P, Merino MJ, Pinto PA.... (2008) BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. Journal of medical genetics, 45(6), 321-31. PMID: 18234728
Houweling AC, Gijezen LM, Jonker MA, van Doorn MB, Oldenburg RA, van Spaendonck-Zwarts KY, Leter EM, van Os TA, van Grieken NC, Jaspars EH.... (2011) Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. British journal of cancer, 105(12), 1912-9. PMID: 22146830
Pavlovich CP, Walther MM, Eyler RA, Hewitt SM, Zbar B, Linehan WM, & Merino MJ. (2002) Renal tumors in the Birt-Hogg-Dubé syndrome. The American journal of surgical pathology, 26(12), 1542-52. PMID: 12459621
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
by Lizzie Perdeaux in BHD Research Blog
As mentioned in the blog last week, high-throughput DNA sequencing is helping to identify novel mutations related to a number of different genetic disorders. A recent example of this can be seen in a study by Varela et al. (2011), … Continue reading →... Read more »
Kenneth, N., Mudie, S., van Uden, P., & Rocha, S. (2008) SWI/SNF Regulates the Cellular Response to Hypoxia. Journal of Biological Chemistry, 284(7), 4123-4131. DOI: 10.1074/jbc.M808491200
Reisman, D., Glaros, S., & Thompson, E. (2009) The SWI/SNF complex and cancer. Oncogene, 28(14), 1653-1668. DOI: 10.1038/onc.2009.4
Tang, L., Nogales, E., & Ciferri, C. (2010) Structure and function of SWI/SNF chromatin remodeling complexes and mechanistic implications for transcription. Progress in Biophysics and Molecular Biology, 102(2-3), 122-128. DOI: 10.1016/j.pbiomolbio.2010.05.001
Varela, I., Tarpey, P., Raine, K., Huang, D., Ong, C., Stephens, P., Davies, H., Jones, D., Lin, M., Teague, J.... (2011) Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. Nature, 469(7331), 539-542. DOI: 10.1038/nature09639
Xia, W., Nagase, S., Montia, A., Kalachikov, S., Keniry, M., Su, T., Memeo, L., Hibshoosh, H., & Parsons, R. (2008) BAF180 Is a Critical Regulator of p21 Induction and a Tumor Suppressor Mutated in Breast Cancer. Cancer Research, 68(6), 1667-1674. DOI: 10.1158/0008-5472.CAN-07-5276
by Lizzie Perdeaux in BHD Research Blog
BHD syndrome is caused by small nucleotide alterations in the FLCN gene. A total of 132 different mutations have been identified, which are described in the Folliculin Sequence Variation Database. In a large study of 102 BHD syndrome families, only … Continue reading →... Read more »
Benhammou, J., Vocke, C., Santani, A., Schmidt, L., Baba, M., Seyama, K., Wu, X., Korolevich, S., Nathanson, K., Stolle, C.... (2011) Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome. Genes, Chromosomes and Cancer. DOI: 10.1002/gcc.20872
Toro, J., Wei, M., Glenn, G., Weinreich, M., Toure, O., Vocke, C., Turner, M., Choyke, P., Merino, M., Pinto, P.... (2008) BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome: a new series of 50 families and a review of published reports. Journal of Medical Genetics, 45(6), 321-331. DOI: 10.1136/jmg.2007.054304
by Lizzie Perdeaux in BHD Research Blog
As the BHD community is spread all over the globe, strengthening connections and developing more ways of meeting others is important. At the Third BHD Symposium, people at the Patient and Families session proposed the idea of privately messaging BHDSyndrome.org … Continue reading →... Read more »
Morris, K. (2011) Tweet, post, share—a new school of health communication. The Lancet Infectious Diseases, 11(7), 500-501. DOI: 10.1016/S1473-3099(11)70159-1
by Lizzie Perdeaux in BHD Research Blog
A recent paper by Tobino et al. (2011) investigated the differentiation between two cystic lung diseases: BHD syndrome and lymphangioleiomyomatosis (LAM). LAM is a rare lung disease, mainly affecting women, in which multiple cysts develop in the lungs, often leading … Continue reading →... Read more »
Tobino K, Hirai T, Johkoh T, Kurihara M, Fujimoto K, Tomiyama N, Mishima M, Takahashi K, & Seyama K. (2011) Differentiation between Birt-Hogg-Dubé syndrome and lymphangioleiomyomatosis: Quantitative analysis of pulmonary cysts on computed tomography of the chest in 66 females. European journal of radiology. PMID: 21550193
McCormack FX. (2008) Lymphangioleiomyomatosis: a clinical update. Chest, 133(2), 507-16. PMID: 18252917
Graham RB, Nolasco M, Peterlin B, & Garcia CK. (2005) Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults. American journal of respiratory and critical care medicine, 172(1), 39-44. PMID: 15805188
Painter JN, Tapanainen H, Somer M, Tukiainen P, & Aittomäki K. (2005) A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax. American journal of human genetics, 76(3), 522-7. PMID: 15657874
by Lizzie Perdeaux in BHD Research Blog
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 →... Read more »
Chan DA, Sutphin PD, Nguyen P, Turcotte S, Lai EW, Banh A, Reynolds GE, Chi JT, Wu J, Solow-Cordero DE.... (2011) Targeting GLUT1 and the Warburg Effect in Renal Cell Carcinoma by Chemical Synthetic Lethality. Science translational medicine, 3(94). PMID: 21813754
Preston RS, Philp A, Claessens T, Gijezen L, Dydensborg AB, Dunlop EA, Harper KT, Brinkhuizen T, Menko FH, Davies DM.... (2011) Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility. Oncogene, 30(10), 1159-73. PMID: 21057536
by Lizzie Perdeaux in BHD Research Blog
As mentioned in last week’s blog post, many more videos have been uploaded on to BHDSyndrome.org, and this week we would like to highlight our interview with Dr Ferenc Müller, a senior lecturer in Genetics at the University of Birmingham … Continue reading →... Read more »
Bem D, Yoshimura S, Nunes-Bastos R, Bond FC, Kurian MA, Rahman F, Handley MT, Hadzhiev Y, Masood I, Straatman-Iwanowska AA.... (2011) Loss-of-function mutations in RAB18 cause Warburg micro syndrome. American journal of human genetics, 88(4), 499-507. PMID: 21473985
Cullinane AR, Straatman-Iwanowska A, Zaucker A, Wakabayashi Y, Bruce CK, Luo G, Rahman F, Gürakan F, Utine E, Ozkan TB.... (2010) Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. Nature genetics, 42(4), 303-12. PMID: 20190753
Gehrig J, Reischl M, Kalmár E, Ferg M, Hadzhiev Y, Zaucker A, Song C, Schindler S, Liebel U, & Müller F. (2009) Automated high-throughput mapping of promoter-enhancer interactions in zebrafish embryos. Nature methods, 6(12), 911-6. PMID: 19898487
Kim SH, Speirs CK, Solnica-Krezel L, & Ess KC. (2011) Zebrafish model of tuberous sclerosis complex reveals cell-autonomous and non-cell-autonomous functions of mutant tuberin. Disease models , 4(2), 255-67. PMID: 20959633
Southgate L, Dafou D, Hoyle J, Li N, Kinning E, Critchley P, Németh AH, Talbot K, Bindu PS, Sinha S.... (2010) Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish. Neurogenetics, 11(4), 379-89. PMID: 20390432
van der Velden YU, Wang L, Zevenhoven J, van Rooijen E, van Lohuizen M, Giles RH, Clevers H, & Haramis AP. (2011) The serine-threonine kinase LKB1 is essential for survival under energetic stress in zebrafish. Proceedings of the National Academy of Sciences of the United States of America, 108(11), 4358-63. PMID: 21368212
van Rooijen E, Voest EE, Logister I, Korving J, Schwerte T, Schulte-Merker S, Giles RH, & van Eeden FJ. (2009) Zebrafish mutants in the von Hippel-Lindau tumor suppressor display a hypoxic response and recapitulate key aspects of Chuvash polycythemia. Blood, 113(25), 6449-60. PMID: 19304954
by Lizzie Perdeaux in BHD Research Blog
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 →... Read more »
Frezza C, Zheng L, Folger O, Rajagopalan KN, Mackenzie ED, Jerby L, Micaroni M, Chaneton B, Adam J, Hedley A.... (2011) Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase. Nature. PMID: 21849978
by Lizzie Perdeaux in BHD Research Blog
Following on from the blog last week, which described the identification of PBRM1 mutations in clear-cell RCC (ccRCC), other sequencing studies are also finding new genes that are mutated in ccRCC. For example, Dalgliesh et al. (2010) have identified mutations … Continue reading →... Read more »
Dalgliesh, G., Furge, K., Greenman, C., Chen, L., Bignell, G., Butler, A., Davies, H., Edkins, S., Hardy, C., Latimer, C.... (2010) Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes. Nature, 463(7279), 360-363. DOI: 10.1038/nature08672
Komori, K., Takagi, Y., Sanada, M., Lim, T., Nakatsu, Y., Tsuzuki, T., Sekiguchi, M., & Hidaka, M. (2009) A novel protein, MAPO1, that functions in apoptosis triggered by O6-methylguanine mispair in DNA. Oncogene, 28(8), 1142-1150. DOI: 10.1038/onc.2008.462
van Haaften, G., Dalgliesh, G., Davies, H., Chen, L., Bignell, G., Greenman, C., Edkins, S., Hardy, C., O'Meara, S., Teague, J.... (2009) Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer. Nature Genetics, 41(5), 521-523. DOI: 10.1038/ng.349
by Lizzie Perdeaux in BHD Research Blog
In an earlier blog post, Vicki discussed a paper by Dalgliesh et al. (2010), which describes the identification of mutations in a variety of histone modifying genes in clear cell renal cell carcinoma (ccRCC). One of the genes identified codes for a … Continue reading →... Read more »
Dalgliesh, G., Furge, K., Greenman, C., Chen, L., Bignell, G., Butler, A., Davies, H., Edkins, S., Hardy, C., Latimer, C.... (2010) Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes. Nature, 463(7279), 360-363. DOI: 10.1038/nature08672
Niu, X., Zhang, T., Liao, L., Zhou, L., Lindner, D., Zhou, M., Rini, B., Yan, Q., & Yang, H. (2011) The von Hippel–Lindau tumor suppressor protein regulates gene expression and tumor growth through histone demethylase JARID1C. Oncogene. DOI: 10.1038/onc.2011.266
Preston RS, Philp A, Claessens T, Gijezen L, Dydensborg AB, Dunlop EA, Harper KT, Brinkhuizen T, Menko FH, Davies DM.... (2011) Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility. Oncogene, 30(10), 1159-73. PMID: 21057536
by Lizzie Perdeaux in BHD Research Blog
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 →... Read more »
Mathew R, Karp CM, Beaudoin B, Vuong N, Chen G, Chen HY, Bray K, Reddy A, Bhanot G, Gelinas C.... (2009) Autophagy suppresses tumorigenesis through elimination of p62. Cell, 137(6), 1062-75. PMID: 19524509
Parkhitko A, Myachina F, Morrison TA, Hindi KM, Auricchio N, Karbowniczek M, Wu JJ, Finkel T, Kwiatkowski DJ, Yu JJ.... (2011) Tumorigenesis in tuberous sclerosis complex is autophagy and p62/sequestosome 1 (SQSTM1)-dependent. Proceedings of the National Academy of Sciences of the United States of America, 108(30), 12455-60. PMID: 21746920
by Lizzie Perdeaux in BHD Research Blog
There have been a few changes to BHDSyndrome.org in the past few weeks. Firstly, the Information Pamphlets are now available for download. Thank you very much to all who participated in the pamphlet survey. Many supportive responses were received from … 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
by Lizzie Perdeaux in BHD Research Blog
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 →... Read more »
Nookala RK, Hussain S, & Pellegrini L. (2007) Insights into Fanconi Anaemia from the structure of human FANCE. Nucleic acids research, 35(5), 1638-48. PMID: 17308347
by Lizzie Perdeaux in BHD Research Blog
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 →... Read more »
Starink TM, Houweling AC, van Doorn MB, Leter EM, Jaspars EH, van Moorselaar RJ, Postmus PE, Johannesma PC, van Waesberghe JH, Ploeger MH.... (2011) Familial multiple discoid fibromas: A look-alike of Birt-Hogg-Dubé syndrome not linked to the FLCN locus. Journal of the American Academy of Dermatology. PMID: 21794948
Starink TM, Kisch LS, & Meijer CJ. (1985) Familial multiple trichodiscomas. A clinicopathologic study. Archives of dermatology, 121(7), 888-91. PMID: 4015134
by Lizzie Perdeaux in BHD Research Blog
Fumarate hydratase (FH) is a mitochondrial enzyme which is involved in aerobic cellular respiration. As discussed in a previous post, germline mutations of FH can lead to Hereditary Leiomyomatosis Renal Cell Carcinoma (HLRCC), an autosomal dominant disorder which shares some … Continue reading →... Read more »
Isaacs JS, Jung YJ, Mole DR, Lee S, Torres-Cabala C, Chung YL, Merino M, Trepel J, Zbar B, Toro J.... (2005) HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability. Cancer cell, 8(2), 143-53. PMID: 16098467
Purdue MP, Johansson M, Zelenika D, Toro JR, Scelo G, Moore LE, Prokhortchouk E, Wu X, Kiemeney LA, Gaborieau V.... (2011) Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. Nature genetics, 43(1), 60-5. PMID: 21131975
Sudarshan S, Shanmugasundaram K, Naylor SL, Lin S, Livi CB, O'Neill CF, Parekh DJ, Yeh IT, Sun LZ, & Block K. (2011) Reduced Expression of Fumarate Hydratase in Clear Cell Renal Cancer Mediates HIF-2α Accumulation and Promotes Migration and Invasion. PloS one, 6(6). PMID: 21695080
by Lizzie Perdeaux in BHD Research Blog
In this month’s lab-profile we introduce Professor Maurice van Steensel, a Professor of genetic dermatology at the University Hospital Maastricht. Professor van Steensel leads a research group studying the role of FLCN in BHD syndrome and he is also a … Continue reading →... Read more »
Preston RS, Philp A, Claessens T, Gijezen L, Dydensborg AB, Dunlop EA, Harper KT, Brinkhuizen T, Menko FH, Davies DM.... (2011) Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility. Oncogene, 30(10), 1159-73. PMID: 21057536
Claessens T, Weppler SA, van Geel M, Creytens D, Vreeburg M, Wouters B, & van Steensel MA. (2010) Neuroendocrine carcinoma in a patient with Birt-Hogg-Dubé syndrome. Nature reviews. Urology, 7(10), 583-7. PMID: 20842188
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
by Lizzie Perdeaux in BHD Research Blog
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 →... Read more »
Alonso-González J, Rodríguez-Pazos L, Fernández-Redondo V, Vega-Gliemmo A, & Toribio J. (2011) Birt-Hogg-Dubé syndrome in a patient with localized fibrofolliculomas and a novel mutation in the FLCN gene. International journal of dermatology, 50(8), 968-71. PMID: 21781069
Happle R. (2001) [Segmental type 2 manifestation of autosome dominant skin diseases. Development of a new formal genetic concept]. Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete, 52(4), 283-7. PMID: 11382117
Kluger N, Giraud S, Coupier I, Avril MF, Dereure O, Guillot B, Richard S, & Bessis D. (2010) Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families. The British journal of dermatology, 162(3), 527-37. PMID: 19785621
Schulz T, Ebschner U, & Hartschuh W. (2001) Localized Birt-Hogg-Dubé syndrome with prominent perivascular fibromas. The American Journal of dermatopathology, 23(2), 149-53. PMID: 11285413
Starink TM, Houweling AC, van Doorn MB, Leter EM, Jaspars EH, van Moorselaar RJ, Postmus PE, Johannesma PC, van Waesberghe JH, Ploeger MH.... (2011) Familial multiple discoid fibromas: A look-alike of Birt-Hogg-Dubé syndrome not linked to the FLCN locus. Journal of the American Academy of Dermatology. PMID: 21794948
Weintraub R, & Pinkus H. (1977) Multiple fibrofolliculomas (Birt-Hogg-Dubé) associated with a large connective tissue nevus. Journal of cutaneous pathology, 4(6), 289-99. PMID: 753849
by Lizzie Perdeaux in BHD Research Blog
Our lab-profile for this month introduces the work of Professor Arnim Pause, an Associate Professor in the Department of Biochemistry and a Canada Research Chair in Molecular Oncology at McGill University, Canada. Much of Professor Pause’s early work involved researching … Continue reading →... Read more »
Dostie J, Ferraiuolo M, Pause A, Adam SA, & Sonenberg N. (2000) A novel shuttling protein, 4E-T, mediates the nuclear import of the mRNA 5' cap-binding protein, eIF4E. The EMBO journal, 19(12), 3142-56. PMID: 10856257
Gingras MC, Zhang YL, Kharitidi D, Barr AJ, Knapp S, Tremblay ML, & Pause A. (2009) HD-PTP is a catalytically inactive tyrosine phosphatase due to a conserved divergence in its phosphatase domain. PloS one, 4(4). PMID: 19340315
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
Iwai K, Yamanaka K, Kamura T, Minato N, Conaway RC, Conaway JW, Klausner RD, & Pause A. (1999) Identification of the von Hippel-lindau tumor-suppressor protein as part of an active E3 ubiquitin ligase complex. Proceedings of the National Academy of Sciences of the United States of America, 96(22), 12436-41. PMID: 10535940
Kurban G, Duplan E, Ramlal N, Hudon V, Sado Y, Ninomiya Y, & Pause A. (2008) Collagen matrix assembly is driven by the interaction of von Hippel-Lindau tumor suppressor protein with hydroxylated collagen IV alpha 2. Oncogene, 27(7), 1004-12. PMID: 17700531
Preston RS, Philp A, Claessens T, Gijezen L, Dydensborg AB, Dunlop EA, Harper KT, Brinkhuizen T, Menko FH, Davies DM.... (2011) Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility. Oncogene, 30(10), 1159-73. PMID: 21057536
Tedbury P, Welbourn S, Pause A, King B, Griffin S, & Harris M. (2011) The subcellular localization of the hepatitis C virus non-structural protein NS2 is regulated by an ion channel-independent function of the p7 protein. The Journal of general virology, 92(Pt 4), 819-30. PMID: 21177929
by Lizzie Perdeaux in BHD Research Blog
In July, the Beatson International Cancer Conference took place at The Beatson Institute for Cancer Research in Glasgow, UK. The Beatson Institute is a Cancer Research UK-funded centre which focuses on understanding cancer cell behaviour and developing new therapies and … Continue reading →... Read more »
Cash TP, Gruber JJ, Hartman TR, Henske EP, & Simon MC. (2011) Loss of the Birt-Hogg-Dubé tumor suppressor results in apoptotic resistance due to aberrant TGFβ-mediated transcription. Oncogene, 30(22), 2534-46. PMID: 21258407
Frezza C, Zheng L, Folger O, Rajagopalan KN, MacKenzie ED, Jerby L, Micaroni M, Chaneton B, Adam J, Hedley A.... (2011) Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase. Nature, 477(7363), 225-8. PMID: 21849978
by Lizzie Perdeaux in BHD Research Blog
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 →... Read more »
Lim, D., Rehal, P., Nahorski, M., Macdonald, F., Claessens, T., Van Geel, M., Gijezen, L., Gille, J., Giraud, S., Richard, S.... (2010) A new locus-specific database (LSDB) for mutations in the folliculin ( ) gene . Human Mutation, 31(1). DOI: 10.1002/humu.21130
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