Patrick Pollard - Curriculum Vitae

Personal Details:

Name: Patrick John Pollard

Date of birth:02/01/1974

Birth Place:Birmingham, United Kingdom

Contact Details:

Henry Wellcome Building for Molecular Physiology,

University of Oxford,

Roosevelt Drive,

Oxford,

OX3 7BN,

United Kingdom

T: +44-1865-287780 / +44-1865-287796 (lab)

F: +44-1865-287787

E:

URL:

Biography and Research Interests:

In 2001 I graduated from University College London (BSc Microbiology and Genetics) and embarked on a PhD at Cancer Research UK – London Research Institute, in the Molecular and Population Genetics laboratory. The group, led by Professor Ian Tomlinson, had recently identified the transcript encoding the Krebs cycle enzyme fumarate hydratase (FH) as a renal cancer tumour-suppressor gene. My research was aimed at elucidating the mechanism of FH-associated cancer and as part of these studies I generated a conditional FH knockout mouse that recapitulated important aspects of the human disease, including activation of the hypoxia pathway in FH-null tissues and cells. In 2007 I moved to Oxford to join the Oxygen Sensing group headed by Prof. Peter Ratcliffe FRS, where I continued to work on FH, broadening my research to investigate interplay between FH and the family of enzymes that regulate hypoxia-inducible factors (HIF1α and HIF2α). In 2009, I was awarded a Beit Memorial Fellowship to continue my research into the mechanisms linking FH deficiency and cancer and became an independent Junior Principal Investigator in the Nuffield Department of Medicine, Oxford.The main interest of my team is cancer biology and metabolism, and we have developed novel cellular and animal models to aid our research. We have extensive collaborations with laboratories throughout Oxford, the UK and worldwide, and with pharmaceutical companies including Glaxo-SmithKline. Since becoming an early stage researcher, I have demonstrated that FH-associated disease in mice is independent of the hypoxia pathway and defined alternative candidate pathways for fumarate-mediated oncogenesis. One of these; the post-translational modification of cysteine residues in FH-associated cancer is a sufficiently specific and sensitive biomarker for use in a routine clinical setting. I am both motivated and enthusiastic about my science and during my research career have developed an extensive repertoire of lab-based skills and techniques. Recently, I have been awarded an ERC starter grant to continue with my research into the metabolism and biology of renal cancer and am employed as a Reader / Chancellor’s fellow at the University of Edinburgh.

Major Research Areas and Technologies

Cancer metabolism, renal cancer, hypoxia, microscopy, signalling pathways, genetics, mouse models / transgenics, pathology, histology, metabolic profiling, microarrays.

Education / Employment:

Present:

Chancellor’s Fellow:October 2013 – Present. Cancer Biology and Metabolism Group Leader, Chancellor’s Fellow and University Reader. Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU

Previous:

Principal Investigator:January 2013 – October 2013. Cancer Biology and Metabolism Group Leader and University Research Lecturer, Nuffield Department of Medicine, Henry Wellcome Building for Molecular Physiology, University of Oxford, OX3 7BN

Beit Fellow / Group Leader:January 2010 to September 2013. Nuffield Department of Medicine, Henry Wellcome Building for Molecular Physiology, University of Oxford, OX3 7BN

Postdoc:(April 2007-January 2010)Henry Wellcome Building for Molecular Physiology, University of Oxford, OX3 7BN

Postdoc:(April 2006-March 2007) 1 year CRUK-funded Fellowship,Molecular and Population Genetics Laboratory, Cancer Research UK – London Research Institute, 44 Lincoln’s Inn Fields, London, WC2A 3PX, UK

PhD:(September 2002- March 2006) Molecular and Population Genetics Laboratory, Cancer Research UK – London Research Institute, 44 Lincoln’s Inn Fields, London, WC2A 3PX, UK

BSc:(1998-2001) B.Sc. Microbiology and Genetics (First class Hons.). University College London, London, Gower Street, London, WC1E 6BT, UK

Awards, Fellowships and Grants

2013-2018European Research Council (ERC) Starter Grant (Principal Applicant)

“Analysisoftheinterplaybetweengeneticmutationand alteredcellularmetabolisminrenal neoplasia” Total funding €1,497,147

2012- 2013Awarded status of University Research Lecturer, University of Oxford, UK

2012-2014GlaxoSmithKline (Joint Principal Investigator with Professor Peter Ratcliffe, NDM, Oxford) “Synthetic lethality screens in fumarate hydratase defective cells” Total funding £122,048

2012Cancer Research UK, Travel Award (Principal Applicant)

“Metabolic profiling of fumarate hydratase (FH)-deficient cells.”

Total funding £4,480

2011-2014Cancer Research UK, Project Grant (Principal Applicant)

“The role of fumarate-mediated 2-oxoglutarate-dependent oxygenase inhibition in hereditary renal cancer.” Total funding £219,504

2011- 2012UCARE, Research Grant (Principal Applicant)

“Metabolic transformation in hereditary renal cancer: Identification of novel pathways and targets.” Total funding £20,000

2010- 2013Cancer Research UK, Project Grant (Joint Principal Investigator with Dr HoumanAshrafian, Cardiovascular Medicine, Oxford)

“The Central Role Of Cytoplasmic Fumarate Hydratase In Both Nitric Oxide Metabolism And Tumorigenesis.” Total funding £247,173

2009- 2012Beit Memorial Fellowship (Funded by the Wellcome Trust)

“Functional studies of tumourigenic mechanisms linking fumarate hydratase deficiency and cancer.” Total funding £168,108

2008- 2011Cancer Research UK, Project Grant (Joint Principal Investigator with Professor Peter Ratcliffe, NDM, Oxford) “Molecular and functional analysis of the roles of the fumarate hydratase (FH) tumour suppressor gene product in perturbation of hypoxia pathways and renal neoplasia.” Total funding £246,975

Teaching and Supervisory experience

2013 – PresentPrimary supervisor for RaliatDabiri (gap-year student)

2013 – PresentPrimary Supervisor for Huizhong Su (PhD student)

2012-PresentPrimary Supervisor for Oscar Yang (DPhil student)

2008-2012Primary Supervisor for DPhil student; Miss Linda O’Flaherty, Mansfield College, Oxford. She successfully passed her DPhil viva in April 2012.

2011-2012Primary Supervisor MSc student MahimaLaroyia, Pembroke College, Oxford for a 10 week lab-based project.

2010Primary Supervisor for two summer placement students: DannielMannion, Oriel College, Oxford; and Ashley Thorpe, Christchurch College, Oxford.

2009-2010Primary Supervisor for MSc student; Miss EmineHatipoglu, St Cross College, Oxford. Emine successfully completed her MSc (December 2010) in “The role(s) of hypoxia-inducible factors (HIFs) in the development of renal cysts in mice deficient in fumarate hydratase (Fh1).”

2006-2007Lecturer, Imperial College London.I delivered lectures on “Hypoxia and Renal Cancer” and marked relevant examination questions for the Masters in Research(MRes) in Cancer Biology course organised by Professor Gordon Stamp.

Invited lectures and conference presentations

March 2014Keystone Symposia: Tumor Metabolism, Whistler, Canada. Invited Speaker

January 2014Student Masterclass tutor and invited to contribute a seminar to the lecture series of the Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical School, Netherlands

January 2014Invited Speaker, Cancer Division in Dundee Medical School, Dundee, Scotland

September 2013Japanese Biochemical Society Annual Meeting. Invited Speaker

July 2013-07-09University of Edinburgh. Invited Speaker

March 2013Annual Meeting of the German Physiologists, Heidelberg, Germany, Invited Speaker

February 2013Irish Association for Cancer Research Conference, Dublin, Ireland. Invited speaker for plenary session on “mitochondrial dysfunction and cancer”

December 2012MiTOX conference, Oxford.Conference organiser, Chair and Speaker.

November 2012Development, regeneration and aging conference, Oulu, Finland. Invited speaker

November 2012Tampere University, Finland. Invited Speaker

October 2012 Hallmarks of Cancer Conference, San Francisco, USA. Oral presentation

October 2012Hypoxybridge Conference, Oxford. Invited speaker

May 20125th World Cancer Congress, Dalian, China. Invited speaker and Session Chair

April 2012Keio University, Japan. Invited speaker

April 2012Oxygen 2012, HypoxiaNet Research Conference, Bilbao, Spain. Invited Speaker

March 2012Institute of Physiology, University of Zurich, Switzerland. Invited Seminar

February 2012GustaveRoussy Institute, Paris. Invited Seminar

February 2012Keystone Symposia, Banff, Canada. Oral Presentation

December 2011MiTOX conference, Oxford, UK.Conference organiser, Chair and Speaker

November 2011Zing Cancer Conference,Xcaret, Mexico. Oral presentation

May 20114th World Cancer Congress, Dalian, China.Invited Speaker

May 20113rd BHD and 1st HLRCC symposium, Maastricht, Netherlands.Invited Speaker, Conference organising committee and Invited Chair (HLRCC basic research)

February 2011Blizard Institute of Cell and Molecular Science,Barts and the London School of Medicine and Dentistry , UKEXPERT Lunchtime Club & Guest Speaker

January 2011Oxygen 2011, HypoxiaNetConferenceDavos, Switzerland.Invited Speaker

October 20109th International Medical Symposium on VHL, Rio de Janeiro, Brazil. Invited Speaker

September 2010Cancer and Metabolism Conference, Edinburgh, UK.Oral presentation

September 2010MiTOX conference, Oxford, UK.Conference organiser, Chair and Speaker

September 2009MiTOX conference, Oxford, UK.Conference Chair and Speaker

January 2008Keystone Symposia, Vancouver, Canada.Scholarship award for poster presentation

March 2007International Society for Gastrointestinal Hereditary. Tumours (InSiGHT) colon cancer conference, Yokohama, Japan.Oral presentation

Professional activities:

2013-presentHonorary editorial board for Hypoxic Signaling

2013-presentInternational Scientific Committee for Birt-Hogg-Dubé Syndrome

2012-presentReview Editorial Board of Frontiers in Mitochondrial Research

2011-PresentReviewer of grant applications for multiple funding organisations including the Medical Research Council (MRC).

2011-PresentInternational evaluation expert for the New Eurasia Foundation. Russian Governmental Initiative on attracting leading scientists to the Russian institutions of higher learning/universities.

2011-PresentAssociate EditorAmerican Journal of Cancer Research (ISSN: 2156-6976)

2010- PresentInvited Reviewer for scientific journals including Oncogene, JCI, Cancer Cell, Cancer Research, Journal of Pathology and the Journal of Molecular Medicine, EMBO Molecular Medicine.

Publications

1.Guitart, A.V., Subramani, C., Armesilla-Diaz, A., Smith, G., Sepulveda, C., Gezer, D., Vukovic, M., Dunn, K., Pollard, P., Holyoake, T.L., Enver, T., Ratcliffe, P.J., and Kranc, K.R. 2013. Hif-2alpha is not essential for cell-autonomous hematopoietic stem cell maintenance. Blood 122:1741-1745.

2.Yang, M., Soga, T., and Pollard, P.J. 2013. Oncometabolites: linking altered metabolism with cancer. J Clin Invest 123:3652-3658.

3.Yang, O.C., Maxwell, P.H., and Pollard, P.J. 2013. Renal cell carcinoma: translational aspects of metabolism and therapeutic consequences. Kidney Int doi: 10.1038/ki.2013.245.

4.Yang, M., and Pollard, P.J. 2013. Succinate: a new epigenetic hacker. Cancer Cell 23:709-711.

5.Ternette, N., Yang, M., Laroyia, M., Kitagawa, M., O'Flaherty, L., Wolhulter, K., Igarashi, K., Saito, K., Kato, K., Fischer, R., Berquand, A., Kessler, B.M., Lappin, T., Frizzell, N., Soga, T., Adam, J., and Pollard, P.J. 2013. Inhibition of mitochondrial aconitase by succination in fumarate hydratase deficiency. Cell Rep 3:689-700.

6.Adam, J., Yang, M., Soga, T., and Pollard, P.J. 2013. Rare insights into cancer biology. Oncogene doi: 10.1038/onc.2013.222.

7.Adam, J., Yang, M., Bauerschmidt, C., Kitagawa, M., O'Flaherty, L., Maheswaran, P., Ozkan, G., Sahgal, N., Baban, D., Kato, K., Saito, K., Iino, K., Igarashi, K., Stratford, M., Pugh, C., Tennant, D.A., Ludwig, C., Davies, B., Ratcliffe, P.J., El-Bahrawy, M., Ashrafian, H., Soga, T., and Pollard, P.J. 2013. A role for cytosolic fumarate hydratase in urea cycle metabolism and renal neoplasia. Cell Rep 3:1440-1448.

8.Yang, M., Soga, T., Pollard, P.J., and Adam, J. 2012. The emerging role of fumarate as an oncometabolite. Front Oncol 2:85.

9.Lewis, A., Davis, H., Deheragoda, M., Pollard, P., Nye, E., Jeffery, R., Segditsas, S., East, P., Poulsom, R., Stamp, G., Wright, N., and Tomlinson, I. 2012. The C-terminus of Apc does not influence intestinal adenoma development or progression. J Pathol 226:73-83.

10.Bardella, C., Olivero, M., Lorenzato, A., Geuna, M., Adam, J., O'Flaherty, L., Rustin, P., Tomlinson, I., Pollard, P.J., and Di Renzo, M.F. 2012. Cells lacking the fumarase tumor suppressor are protected from apoptosis through a hypoxia-inducible factor-independent, AMPK-dependent mechanism. Mol Cell Biol 32:3081-3094.

11.Ashrafian, H., Czibik, G., Bellahcene, M., Aksentijevic, D., Smith, A.C., Mitchell, S.J., Dodd, M.S., Kirwan, J., Byrne, J.J., Ludwig, C., Isackson, H., Yavari, A., Stottrup, N.B., Contractor, H., Cahill, T.J., Sahgal, N., Ball, D.R., Birkler, R.I., Hargreaves, I., Tennant, D.A., Land, J., Lygate, C.A., Johannsen, M., Kharbanda, R.K., Neubauer, S., Redwood, C., de Cabo, R., Ahmet, I., Talan, M., Gunther, U.L., Robinson, A.J., Viant, M.R., Pollard, P.J., Tyler, D.J., and Watkins, H. 2012. Fumarate is cardioprotective via activation of the Nrf2 antioxidant pathway. Cell Metab 15:361-371.

12.Zhdanov, A.V., Favre, C., O'Flaherty, L., Adam, J., O'Connor, R., Pollard, P.J., and Papkovsky, D.B. 2011. Comparative bioenergetic assessment of transformed cells using a cell energy budget platform. Integr Biol (Camb) doi: 10.1039/c1ib00050k.

13.Thalhammer, A., Bencokova, Z., Poole, R., Loenarz, C., Adam, J., O'Flaherty, L., Schodel, J., Mole, D., Giaslakiotis, K., Schofield, C.J., Hammond, E.M., Ratcliffe, P.J., and Pollard, P.J. 2011. Human AlkB homologue 5 is a nuclear 2-oxoglutarate dependent oxygenase and a direct target of hypoxia-inducible factor 1alpha (HIF-1alpha). PLoS One 6:e16210.

14.Frezza, C., Zheng, L., Folger, O., Rajagopalan, K.N., MacKenzie, E.D., Jerby, L., Micaroni, M., Chaneton, B., Adam, J., Hedley, A., Kalna, G., Tomlinson, I.P., Pollard, P.J., Watson, D.G., Deberardinis, R.J., Shlomi, T., Ruppin, E., and Gottlieb, E. 2011. Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase. Nature 477:225-228.

15.Frezza, C., Pollard, P.J., and Gottlieb, E. 2011. Inborn and acquired metabolic defects in cancer. J Mol Med (Berl) 89:213-220.

16.Bardella, C., Pollard, P.J., and Tomlinson, I. 2011. SDH mutations in cancer. Biochim Biophys Acta 1807:1432-1443.

17.Bardella, C., El-Bahrawy, M., Frizzell, N., Adam, J., Ternette, N., Hatipoglu, E., Howarth, K., O'Flaherty, L., Roberts, I., Turner, G., Taylor, J., Giaslakiotis, K., Macaulay, V.M., Harris, A.L., Chandra, A., Lehtonen, H.J., Launonen, V., Aaltonen, L.A., Pugh, C.W., Mihai, R., Trudgian, D., Kessler, B., Baynes, J.W., Ratcliffe, P.J., Tomlinson, I.P., and Pollard, P.J. 2011. Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status. J Pathol 225:4-11.

18.Adam, J., Ratcliffe, P.J., and Pollard, P.J. 2011. Novel insights into FH-associated disease are KEAPing the lid on oncogenic HIF signalling. Oncotarget 2:820-821.

19.Adam, J., and Pollard, P.J. 2011. In the ring with polycystic kidney disease--avoiding the knockout punch. J Pathol 223:1-3.

20.Adam, J., Hatipoglu, E., O'Flaherty, L., Ternette, N., Sahgal, N., Lockstone, H., Baban, D., Nye, E., Stamp, G.W., Wolhuter, K., Stevens, M., Fischer, R., Carmeliet, P., Maxwell, P.H., Pugh, C.W., Frizzell, N., Soga, T., Kessler, B.M., El-Bahrawy, M., Ratcliffe, P.J., and Pollard, P.J. 2011. Renal cyst formation in Fh1-deficient mice is independent of the Hif/Phd pathway: roles for fumarate in KEAP1 succination and Nrf2 signaling. Cancer Cell 20:524-537.

21.Pollard, P.J., and Kranc, K.R. 2010. Hypoxia signaling in hematopoietic stem cells: a double-edged sword. Cell Stem Cell 7:276-278.

22.O'Flaherty, L., Adam, J., Heather, L.C., Zhdanov, A.V., Chung, Y.L., Miranda, M.X., Croft, J., Olpin, S., Clarke, K., Pugh, C.W., Griffiths, J., Papkovsky, D., Ashrafian, H., Ratcliffe, P.J., and Pollard, P.J. 2010. Dysregulation of hypoxia pathways in fumarate hydratase-deficient cells is independent of defective mitochondrial metabolism. Hum Mol Genet 19:3844-3851.

23.Lewis, A., Segditsas, S., Deheragoda, M., Pollard, P., Jeffery, R., Nye, E., Lockstone, H., Davis, H., Clark, S., Stamp, G., Poulsom, R., Wright, N., and Tomlinson, I. 2010. Severe polyposis in Apc(1322T) mice is associated with submaximal Wnt signalling and increased expression of the stem cell marker Lgr5. Gut 59:1680-1686.

24.Ashrafian, H., O'Flaherty, L., Adam, J., Steeples, V., Chung, Y.L., East, P., Vanharanta, S., Lehtonen, H., Nye, E., Hatipoglu, E., Miranda, M., Howarth, K., Shukla, D., Troy, H., Griffiths, J., Spencer-Dene, B., Yusuf, M., Volpi, E., Maxwell, P.H., Stamp, G., Poulsom, R., Pugh, C.W., Costa, B., Bardella, C., Di Renzo, M.F., Kotlikoff, M.I., Launonen, V., Aaltonen, L., El-Bahrawy, M., Tomlinson, I., and Pollard, P.J. 2010. Expression profiling in progressive stages of fumarate-hydratase deficiency: the contribution of metabolic changes to tumorigenesis. Cancer Res 70:9153-9165.

25.van Nederveen, F.H., Gaal, J., Favier, J., Korpershoek, E., Oldenburg, R.A., de Bruyn, E.M., Sleddens, H.F., Derkx, P., Riviere, J., Dannenberg, H., Petri, B.J., Komminoth, P., Pacak, K., Hop, W.C., Pollard, P.J., Mannelli, M., Bayley, J.P., Perren, A., Niemann, S., Verhofstad, A.A., de Bruine, A.P., Maher, E.R., Tissier, F., Meatchi, T., Badoual, C., Bertherat, J., Amar, L., Alataki, D., Van Marck, E., Ferrau, F., Francois, J., de Herder, W.W., Peeters, M.P., van Linge, A., Lenders, J.W., Gimenez-Roqueplo, A.P., de Krijger, R.R., and Dinjens, W.N. 2009. An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. Lancet Oncol 10:764-771.

26.Srirangalingam, U., Khoo, B., Walker, L., MacDonald, F., Skelly, R.H., George, E., Spooner, D., Johnston, L.B., Monson, J.P., Grossman, A.B., Drake, W.M., Akker, S.A., Pollard, P.J., Plowman, N., Avril, N., Berney, D.M., Burrin, J.M., Reznek, R.H., Kumar, V.K., Maher, E.R., and Chew, S.L. 2009. Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumours. Endocr Relat Cancer 16:515-525.

27.Pollard, P.J., and Ratcliffe, P.J. 2009. Cancer. Puzzling patterns of predisposition. Science 324:192-194.

28.Pollard, P., Deheragoda, M., Segditsas, S., Lewis, A., Rowan, A., Howarth, K., Willis, L., Nye, E., McCart, A., Mandir, N., Silver, A., Goodlad, R., Stamp, G., Cockman, M., East, P., Spencer-Dene, B., Poulsom, R., Wright, N., and Tomlinson, I. 2009. The Apc 1322T mouse develops severe polyposis associated with submaximal nuclear beta-catenin expression. Gastroenterology 136:2204-2213 e2201-2213.

29.Mole, D.R., Blancher, C., Copley, R.R., Pollard, P.J., Gleadle, J.M., Ragoussis, J., and Ratcliffe, P.J. 2009. Genome-wide association of hypoxia-inducible factor (HIF)-1alpha and HIF-2alpha DNA binding with expression profiling of hypoxia-inducible transcripts. J Biol Chem 284:16767-16775.

30.Mazzone, M., Dettori, D., Leite de Oliveira, R., Loges, S., Schmidt, T., Jonckx, B., Tian, Y.M., Lanahan, A.A., Pollard, P., Ruiz de Almodovar, C., De Smet, F., Vinckier, S., Aragones, J., Debackere, K., Luttun, A., Wyns, S., Jordan, B., Pisacane, A., Gallez, B., Lampugnani, M.G., Dejana, E., Simons, M., Ratcliffe, P., Maxwell, P., and Carmeliet, P. 2009. Heterozygous deficiency of PHD2 restores tumor oxygenation and inhibits metastasis via endothelial normalization. Cell 136:839-851.

31.Srirangalingam, U., Walker, L., Khoo, B., MacDonald, F., Gardner, D., Wilkin, T.J., Skelly, R.H., George, E., Spooner, D., Monson, J.P., Grossman, A.B., Akker, S.A., Pollard, P.J., Plowman, N., Avril, N., Berney, D.M., Burrin, J.M., Reznek, R.H., Kumar, V.K.A., Maher, E.R., and Chew, S.L. 2008. Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers. Clinical Endocrinology 69:587-596.

32.Srirangalingam, U., Walker, L., Khoo, B., MacDonald, F., Gardner, D., Wilkin, T.J., Skelly, R.H., George, E., Spooner, D., Monson, J.P., Grossman, A.B., Akker, S.A., Pollard, P.J., Plowman, N., Avril, N., Berney, D.M., Burrin, J.M., Reznek, R.H., Kumar, V.K., Maher, E.R., and Chew, S.L. 2008. Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers. Clin Endocrinol (Oxf) 69:587-596.

33.Pollard, P.J., Loenarz, C., Mole, D.R., McDonough, M.A., Gleadle, J.M., Schofield, C.J., and Ratcliffe, P.J. 2008. Regulation of Jumonji-domain-containing histone demethylases by hypoxia-inducible factor (HIF)-1alpha. Biochem J 416:387-394.

34.Ahvenainen, T., Lehtonen, H.J., Lehtonen, R., Vahteristo, P., Aittomaki, K., Baynam, G., Dommering, C., Eng, C., Gruber, S.B., Gronberg, H., Harvima, R., Herva, R., Hietala, M., Kujala, M., Kaariainen, H., Sunde, L., Vierimaa, O., Pollard, P.J., Tomlinson, I.P., Bjorck, E., Aaltonen, L.A., and Launonen, V. 2008. Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer. Cancer Genet Cytogenet 183:83-88.

35.Pollard, P.J., Spencer-Dene, B., Shukla, D., Howarth, K., Nye, E., El-Bahrawy, M., Deheragoda, M., Joannou, M., McDonald, S., Martin, A., Igarashi, P., Varsani-Brown, S., Rosewell, I., Poulsom, R., Maxwell, P., Stamp, G.W., and Tomlinson, I.P. 2007. Targeted inactivation of fh1 causes proliferative renal cyst development and activation of the hypoxia pathway. Cancer Cell 11:311-319.

36.Wortham, N.C., Alam, N.A., Barclay, E., Pollard, P.J., Wagner, B.E., Manek, S., Elia, G., and Tomlinson, I.P. 2006. Aberrant expression of apoptosis proteins and ultrastructural aberrations in uterine leiomyomas from patients with hereditary leiomyomatosis and renal cell carcinoma. Fertil Steril 86:961-971.

37.Vanharanta, S., Pollard, P.J., Lehtonen, H.J., Laiho, P., Sjoberg, J., Leminen, A., Aittomaki, K., Arola, J., Kruhoffer, M., Orntoft, T.F., Tomlinson, I.P., Kiuru, M., Arango, D., and Aaltonen, L.A. 2006. Distinct expression profile in fumarate-hydratase-deficient uterine fibroids. Hum Mol Genet 15:97-103.

38.Prodromidi, E.I., Poulsom, R., Jeffery, R., Roufosse, C.A., Pollard, P.J., Pusey, C.D., and Cook, H.T. 2006. Bone marrow-derived cells contribute to podocyte regeneration and amelioration of renal disease in a mouse model of Alport syndrome. Stem Cells 24:2448-2455.

39.Pollard, P.J., El-Bahrawy, M., Poulsom, R., Elia, G., Killick, P., Kelly, G., Hunt, T., Jeffery, R., Seedhar, P., Barwell, J., Latif, F., Gleeson, M.J., Hodgson, S.V., Stamp, G.W., Tomlinson, I.P., and Maher, E.R. 2006. Expression of HIF-1alpha, HIF-2alpha (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutations. J Clin Endocrinol Metab 91:4593-4598.

40.Carvajal-Carmona, L.G., Alam, N.A., Pollard, P.J., Jones, A.M., Barclay, E., Wortham, N., Pignatelli, M., Freeman, A., Pomplun, S., Ellis, I., Poulsom, R., El-Bahrawy, M.A., Berney, D.M., and Tomlinson, I.P. 2006. Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations. J Clin Endocrinol Metab 91:3071-3075.

41.Suraweera, N., Meijne, E., Moody, J., Carvajal-Carmona, L.G., Yoshida, K., Pollard, P., Fitzgibbon, J., Riches, A., van Laar, T., Huiskamp, R., Rowan, A., Tomlinson, I.P., and Silver, A. 2005. Mutations of the PU.1 Ets domain are specifically associated with murine radiation-induced, but not human therapy-related, acute myeloid leukaemia. Oncogene 24:3678-3683.