Medical Research, UWA Centre for

Books and Chapters

Laing, N.G., Sewry, C.A. and Lamont, P. Congenital Myopathies, Handbook of Clinical Neurology, ed Mastaglia,F.L. Hilton-Jones, D., Netherlands, Elsevier, 86: pp 1-34 (2007)

Morahan, G. and Williams, R.W. Systems genetics: the next generation in genetics research?, Decoding the Genomic Control of Immune Reactions, ed Bock,G. Goode, J., United States, Wiley InterScience, pp 181-191 (2007)

Sparrow, J.C. and Laing, N.G. Actin Genetic Diseases, Actin-Binding Proteins and Disease, ed dos Remedios, C.G. Chhabra, D., United States, Springer, 8: pp 16-36 (2007)

Journal Articles

Agrawal, P.B., Greenleaf, R.S., Tomczak, K.K., Lehtokari, V., Wallgren-Pettersson, C., Wallefeld, W., Laing, N.G., Darras, B.T., Maciver, S.K., Dormitzer, P.R. and Beggs, A.H. Nemaline Myopathy with Minicores Caused by Mutation of the CFL2 Gene Encoding the Skeletal Muscle Actin-Binding Protein, Cofilin-2, American Journal of Human Genetics, 80: pp 162-167 (2007)

Archer, H., Evans, J., Leonard, H., Colvin, L., Ravine, D., Christodoulou, J., Williamson, S., Charman, T., Bailey, M.E.S., Sampson, J., de Klerk, N. and Clarke, A. Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation, Journal Medical Genetics, 44: pp 148-152 (2007)

Aston-Mourney, K., Wong, N., Kebede, M., Zraika, S., Balmer, L.A., McMahon, J.M., Fam, B.C., Favaloro, J., Proietto, J., Morahan, G. and Andrikopoulos, S. Increased nicotinamide nucleotide transhydrogenase levels predispose to insulin hypersecretion in a mouse strain susceptible to diabetes, Diabetologia, 50: pp 2476-2485 (2007)

Baade, P.D., Fritschi, L. and Freedman, D.M. Mortality due to Amyotrophic Lateral Scelerosis and Parkinson's Disease among Melanoma patients, Neuroepidemiology, 28: pp 16-20 (2007)

Barker, A., Oehler, S. and Muller-Hill, B. "Cold-Sensitive" Mutants of the Lac Repressor, Journal of Bacteriology, 189:5, pp 2174-2175 (2007)

Bouldin, A.A., Parisi, M.A., Laing, N.G., Patterson, K. and Gospe, S.M. Variable Presentation of Nemaline Myopathy: Novel Mutation of Alpha Actin Gene, Muscle & Nerve, 35: pp 254-258 (2007)

Bouwer, S.T., Angelicheva, D.G., Chandler, D.C., Seeman, P., Tournev, I. and Kalaydjieva, L.V. Carrier Rates of the Ancestral Indian W24X Mutation in GJB2 in the General Gypsy Population and Individual Subisolates, Genetic Testing, 11:4, pp 455-458 (2007)

Bouwer, S.T., Coto, E., Santos, F., Angelicheva, D.G., Chandler, D.C. and Kalaydjieva, L.V. The Gitelman syndrome mutation, IVS9+1G>T, is common across Europe, Kidney International, 72: pp 895-898 (2007)

Bulsara, M.K., Holman, C.D., van Bockxmeer, F.M., Davis, E.A., Gallego, P.H., Beilby, J.P., Palmer, L.J., Choong, C. and Jones, T.W. The relationship between ACE genotype and risk of severe hypoglycaemia in a large population-based cohort of children and adolescents with type 1 diabetes, Diabetologia, 50: pp 965-971 (2007)

Carter, K.W., Pluzhinov, A., Timms, A.E., Miceli-Richard, C., Bourgain, C., Wordsworth, B.P., Jean-Pierre, J., Cox, N.J., Palmer, L.J., Breban, M., Reveille, J.D. and Brown, M.A. Combined analysis of three whole genome linkage scans for Ankylosing Spondylitis, Rheumatology, 46: pp 763-771 (2007)

Chanock, S.J., Manolio, T., Manolio, T., Boehnke, M., Boerwinkle, E., Hunter, D.J., Thomas, G., Hirschorn, J.N., Abecasis, G., Altshuler, D., Bailey-Wilson, J.E., Brooks, L.D., Cardon, L.R., Daly, M., Donnelly, P., Fraumeni Jr, J.F., Freimer, N.B., Gerhard, D.S., Gunter, C., Guttmacher, A.E., Guyer, M.S., Harris, E.L., Hoh, J., Hoover, R., Kong, C.A., Merikangas, K.R., Mortin, C.C., Palmer, L.J., Phimister, E.G., Rice, J.P., Roberts, J., Rotimi, C.H., Tucker, M.A., Vogan, K.J., Wacholder, S., Wijsman, E.M., Winn, D.M. and Collins, F.S. Replicating genotype-phenotype associations, Nature, 447: pp 655-660 (2007)

Clark, G.M., Carter, K.W., Palmer, L.J., Morris, A.P. and Cardon, L.R. Fine Mapping versus Replication in Whole-Genome Association Studies, The American Journal of Human Genetics, 81: pp 995-1005 (2007)

Clayforth, C., Fritschi, L., McEvoy, S.P., Byrne, M.J., Ingram, D., Sterrett, G., Harvey, J.M., Joseph, D. and Jamrozik, K. Five-year survival from breast cancer in Western Australia over a decade, The Breast, 16: pp 375-381 (2007)

Colley, S. and Leedman, P. The RNA Coregulator SRA, its Binding Proteins and Nuclear Receptor Signalling Activity, Australian Biochemist, 38:1, pp 16-18 (2007)

Cotton, R.G.H., Appelbe, W., Auerbach, A.D., Becker, K., Bodmer, W., Boone, D.J., Boulyjenkov, V., Brahmachari, S., Brody, L., Brookes, A., Brown, A.F., Byers, P., Cantu, J.M., Cassiman, J.J., Claustres, M., Concannon, P., den Dunnen, J.T., Flicek, P., Gibbs, R., Hall, J., Hasler, J., Katz, M., Kwok, P., Laradi, S., Lindblom, A., Maglott, D., Marsh, S., Masimirembwa, C.M., Minoshima, S., Oller de Ramirez, A.M., Pagon, R., Ramesar, R., Ravine, D., Richards, S., Rimoin, D., Ring, H.Z., Scriver, C.R., Sherry, S., Shimizu, N., Stein, L., Tadmouri, G.O., Taylor, G. and Watson, M. Recommendations of the 2006 Human Variome Project meeting, Nature Genetics, 39:4, pp 433-436 (2007)

Drake, S.F., Morgan, E.H., Herbison, C.E., Delima, R., Graham, R.M., Chua, A.C.G., Leedman, P.J., Fleming, R.E., Bacon, B.R., Olynyk, J.K. and Trinder, D. Iron absorption and hepatic iron uptake are increased in a transferrin receptor 2 (Y245X) mutant mouse model of hemochromatosis type 3, American Journal of Physiology-Gastrointestinal Liver Physiology, 292: pp 323-328 (2007)

Eakin, E.G., Youlden, D.R., Baade, P.D., Lawler, S.P., Reeves, M.M., Heyworth, J.S. and Fritschi, L. Health behaviours of cancer survivors: data from an Australian population-based survey, Cancer Causes and Control, 18: pp 881-894 (2007)

Filipovska, A. and Rackham, O. Building a Parallel Metabolism within the Cell, ACS Chemical Biology, 3: pp 51-63 (2007)

Fritschi, L., Tabrizi, J., Leavy, J., Ambrosini, G. and Timperio, A. Risk factors for surgically treated benign prostatic hyperplasia in Western Australia, Public Health, 97: pp 686-687 (2007)

Fritschi, L., Divitini, M., Talbot-Smith, A. and Knuiman, M. Left-handedness and risk of breast cancer, British Journal of Cancer, 97: pp 686-687 (2007)

Fritschi, L., Glass, D.C., Tabrizi, J.S., Leavy, J.E. and Ambrosini, G.L. Occupational risk factors for prostate cancer and benign prostatic hyperplasia: a case-control study in Western Australia, Occupational and Environmental Medicine, 64: pp 60-65 (2007)

Gillett, M.J., Mamotte, C.D., Ravine, D. and Vasikaran, S.D. Directions for clinical practice improvement in HFE gene mutation testing, Medical Journal of Australia, 187:6, pp 342-344 (2007)

Golledge, J., Muller, J., Shephard, N., Clancy, P., Smallwood, L., Moran, C., Dear, A.E., Palmer, L.J. and Norman, P.E. Association Between Osteopontin and Human Abdominal Aortic Aneurysm, Arteriosclerosis Thrombosis Vascular Biology, 27: pp 655-660 (2007)

Gout, A.M., Martin, N.C., Brown, A.F. and Ravine, D. PKDB: Polycystic Kidney Disease Mutation Database - A Gene Variant Database for Autosomal Dominant Polycystic Kidney Disease, Human Mutation, 28:7, pp 654-659 (2007)

Gout, A.M., Harris, P.C., Rossetti, S., Peters, D., Breuning, M., Henske, E.P., Koizumi, A., Inoue, S., Shimizu, Y., Thongnoppakhun, W., Yenchitsomanus, P., Deltas, C., Sandford, R., Torra, R., Turco, A.E., Jeffery, S., Fontes, M., Somlo, S., Furu, L.M., Smulders, Y.M., Mercier, B., Ferec, C., Burtey, S., Pei, Y., Kalaydjieva, L.V., Bogdanova, N., McCluskey, M., Geon, L.J., Wouters, C.H., Reiterova, J., Stekrova, J., San Millan, J.L., Aguiari, G., Del Senno, L. and Ravine, D. Analysis of published PKD1 gene sequence variants, Nature Genetics, 39:4, pp 427-428 (2007)

Huang, R.C., Burke, V., Newnham, J.P., Stanley, F.J., Kendall, G.E., Landau, L.l., Oddy, W.H., Blake, K.V., Palmer, L.J. and Beilin, L.J. Perinatal and childhood origins of cardiovascular disease, International Journal of Obesity, 31: pp 236-244 (2007)

Humphreys, A.S., Filipovska, A., Berners-Price, S.J., Koutsantonis, G.A., Skelton, B.W. and White, A.H. Gold(I) chloride adducts of 1,3-bis(di-2-pyridylphosphino)propane: synthesis structural studies and antitumour activity, Dalton Transactions, 43: pp 4943-4950 (2007)

Ingley, E. Src family kinases: Regulation of their activities, levels and identification of new pathways, BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS, 1784: pp 56-65 (2007)

Jackaman, C., Nowak, K.J., Ravenscroft, G., Lim, E.M.L., Clement, S. and Laing, N.G. Novel Application of Flow Cytometry: Determination of Muscle Fiber Types and Protein Levels in Whole Murine Skeletal Muscles and Heart, Cell Motility and the Cytoskeleton, 64: pp 914-925 (2007)

Jian, L., Nagarajan, L., de Klerk, N., Ravine, D., Christodoulou, J. and Leonard, H. Seizures in Rett syndrome: An overview from a one-year calendar study, European Journal of Paediatric Neurology, 11: pp 310-317 (2007)

Karipidis, K., Benke, G., Sim, M., Fritschi, L., Yost, M., Armstrong, B., Hughes, A.M., Grulich, A., Vajdic, C.M., Kaldor, J.M. and Kricker, A. Occupational exposure to power frequency magnetic fields and risk of non-Hodgkin lymphoma, Occupational and Environmental Medicine, 64: pp 25-29 (2007)

Karipidis, K.K., Benke, G., Sim, M.R., Kauppinen, T., Kricker, A., Hughes, A.M., Grulich, A.E., Vajdic, C.M., Kaldor, J., Armstrong, B. and Fritschi, J.E. Occupational exposure to ionizing and non-ionizing radiation and risk of non-Hodgkin lymphoma, International Archives of Occupational and Environmental Health, 80: pp 663-670 (2007)

Kendrick, T.S. and Bogoyevitch, M.A. Activation of mitogen-activated protein kinase pathways by the granulocyte colony-stimulating factor receptor: mechanisms and functional consequences, Frontiers in Bioscience, 12: pp 591-607 (2007)

Knight, B., Akhurst, B., Matthews, V.B., Ruddell, R.G., Ramm, G.A., Abraham, L.J., Olynyk, J.K. and Yeoh, G.C. Attenuated liver progenitor (oval) cell and fibrogenic responses to the choline deficient, ethionine supplemented diet in the BALB/c inbred strain of mice, Journal of Hepatology, 46: pp 134-141 (2007)

Laing, N.G. More surprises in sarcomeric protein diseases, Brain, 130: pp 1453-1455 (2007)

Laing, N.G. Congenital myopathies (Journal Article), Current Opinion in Neurology, 20: pp 583-589 (2007)

Lee, Y., Colley, S.M., Norman, M., Biamonti, G. and Uney, J.B. SAFB re-distribution marks steps of the apoptotic process, Experimental Cell Research, 313: pp 3914-3923 (2007)

Lehtokari, V., Ceuterick-de Groote, C., de Jonghe, P., Marttila, M., Laing, N.G., Pelin, K. and Wallgren-Pettersson, C. Cap disease caused by heterozygous deletion of the B-tropomyosin gene TPM2, Neuromuscular Disorders, 17: pp 433-442 (2007)

Liu, P.Y., Beilin, J., Meier, C., Nguyen, T.V., Center, J.R., Leedman, P.J., Seibel, M.J., Eisman, J.A. and Handelsman, D.J. Age-Related Changes in Serum Testosterone and Sex Hormone Binding Globulin in Australian Men: Longitudinal Analyses of Two Geographically Separate Regional Cohorts, The Journal of Clinical Endocrinology and Metabolism, 92: pp 3599-3603 (2007)

Lynch, B.M., Baade, P., Fritschi, L., Leggett, B., Owen, N., Pakenham, K., Newman, B. and Aitken, J.F. Modes of presentation and pathways to diagnosis of colorectal cancer in Queensland, Medical Journal of Australia, 186: pp 288-291 (2007)

Mancebo, E., Moreno-Pelayo, M.A., Mencia, A., de la Calle-Martin, O., Allende, L.M., Sivadorai, P., Kalaydjieva, L.V., Bertranpetit, J., Coto, E., Calleja-Antolin, S., Ruiz-Contreras, J. and Paz-Artal, E. Gly 111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies, Molecular Immunology, 45: pp 479-484 (2007)

Mastroyianni, S.D., Garoufi, A., Voudris, K., Skardoutsou, A., Stefanidis, C.J., Katsarou, E., Gooding, R.L. and Kalaydjieva, L.V. Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis, European Journal of Paediatric Neurology, 166: pp 747-749 (2007)

Mccaskie, P.A., Beilby, J.P., Chapman, C.M.L., Hung, J., McQuillan, B.M., Thompson, P.L. and Palmer, L.J. Cholesteryl ester transfer protein gene haplotypes, plasma high-density lipoprotein levels and the risk of coronary heart disease, Human Genetics, 121: pp 401-411 (2007)

Mihaylova, V., Hantke, J., Sinigerska, I., Cherninkova, S., Raicheva, M., Bouwer, S., Tincheva, R., Khuyomdziev, D., Bertranpetit, J., Chandler, D.C., Angelicheva, D.G., Kremensky, I., Seeman, P., Tournev, I. and Kalaydjieva, L.V. Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation, Brain, 130: pp 1050-1061 (2007)

Mina, K., Fritschi, L. and Knuiman, M. A valid semiquantitative food frequency questionnaire to measure fish consumption, European Journal of Clinical Nutrition, 61: pp 1023-1031 (2007)

Morahan, G., Kaur, G., Singh, M., Rapthap, C., Kumar, N., Katoch, K., Mehra, N.K. and Huang, D. Association of variants in the IL 12B gene with leprosy and tuberculosis, Tissue Antigens, 69: pp 234-236 (2007)

Morar, B., Schwab, S.G., Albus, M., Maier, W., Lerer, B. and Wildenauer, D.B. Evaluation of Association of SNPs in the TNF Alpha Gene Region With Schizophrenia, American Journal of Medical Genetics Part B - Neuropsychiatric Genetics, 144B: pp 318-324 (2007)

Morris, M., Platell, C., Fritschi, L. and Iacopetta, B. Failure to complete adjuvant chemotherapy is associated with adverse survival in stage III colon cancer patients, British Journal of Cancer, 96: pp 701-707 (2007)

Nguyen, L.N., Furuya, M.H., Wolfraim, L.A., Nguyen, A.P., Holdren, M.S., Campbel, J.S., Knight, B., Yeoh, G.C., Fausto, N. and Parks, W.T. Transforming growth factor-beta differentially regulates oval cell hepatocyte proliferation, Journal of Hepatology, 45: pp 31-41 (2007)

Nowak, K.J., Sewry, C.A., Navarro, C., Squier, W., Reina, C., Ricoy, J.R., Jayawant, S.S., Childs, A., Dobbie, J.A., Appleton, R.E., Mountford, R.C., Walker, K.R., Clement, S., Barois, A., Muntoni, F., Romero, N.B. and Laing, N.G. Nemaline Myopathy Caused by Absence of a-Skeletal Muscle Actin, Annals of Neurology, 61:2, pp 175-184 (2007)

Palmer, L.J. UK Biobank: bank on it, Lancet, 369: pp 1980-1982 (2007)

Penisson-Besnier, I., Monnier, N., Toutain, A., Dubas, F. and Laing, N.G. A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study, Neuromuscular Disorders, 17: pp 330-337 (2007)

Pfleger, K., Dalrymple, M.B., Dromey, J.R. and Eidne, K.A. Monitoring interactions between G-protein-coupled receptors and B-arrestins, Biochemical Society Transactions, 35:4, pp 764-766 (2007)

Porter, C.J., Matthews, J.M., Mackay, J.P., Pursglove, S.E., Schmidberger, J.W., Leedman, P.J., Pero, S.C., Krag, D.N., Wilce, M.C.J. and Wilce, J.A. Grb7 SH2 domain structure and interactions with a cyclic peptide inhibitor of cancer cell migration and proliferation, BMC Structural Biology, 7: (2007)

Rackham, O., Nichols, S.J., Leedman, P.J., Berners-Price, S.J. and Filipovska, A. A gold (I) phosphine complex selectively induces apoptosis in breast cancer cells: Implications for anticancer therapeutics targeted to mitochondria, Biochemical Pharmacology, 74: pp 992-1002 (2007)

Ravenscroft, G., Nowak, K.J., Jackaman, C., Clement, S., Lyons, M.A., Gallagher, S., Bakker, A.J. and Laing, N.G. Dissociated Flexor Digitorum Brevis Myofiber Culture System-A More Mature Muscle Culture System, Cell Motility and the Cytoskeleton, 64: pp 727-738 (2007)

Reid, A., Berry, G., de Klerk, N., Hansen, J., Heyworth, J., Ambrosini, G., Fritschi, L., Olsen, N., Merler, E. and Musk, A.W. Age and Sex Differences in Malignant Mesothelioma After Residential Exposure to Blue Asbestos (Crocidolite), Chest, 131: pp 376-382 (2007)

Saunders, C.L., Chiodini, B.D., Sham, P., Lewis, C.M., Abkevich, V., Adyemo, A.A., de Andrade, M., Arya, R., Berenson, G.S., Blangero, J., Boehnke, M., Borecki, I.B., Chagnon, Y.C., Chen, W., Comuzzie, A.G., Deng, H., Duggirala, R., Feitosa, M.F., Froguel, P., Hanson, R.L., Hebebrand, J., Huezo-Dias, P., Kissebah, A.H., Li, W., Luke, A., Martin, L.J., Nash, M., Ohman, M., Palmer, L.J., Pelonen, L., Perola, M., Price, R.A., Redlne, S., Srinivasan, R., Stern, M.P., Stone, S., Stringham, H., Turner, S., Wijmenga, C. and Collier, D.A. Meta-Analysis of Genome-wide Linkage Studies in BMI Obesity, Obesity, 15: pp 2263-2275 (2007)

Schosser, A., Aschauer, H.N., Wildenauer, D.B., Schwab, S.G., Albus, M., Maier, W., Schloegelhofer, M., Leisch, F., Hornik, K., Murray, S.S. and Gasche, C. Homozygosity of the Interleukin-10 Receptor 1 G330R Allele is Associated with Schizophrenia, American Journal of medical Genetics Part B - Neuropsychiatric Genetics, 144B: pp 347-350 (2007)

Schwab, S.G., Plummer, C., Albus, M., Borrman-Hassenbach, M., Lerer, B., Trixler, M., Maier, W. and Wildenauer, D.B. DNA sequence variants in the metabotropic glutamate receptor 3 and risk to schizophrenia an assocation study, Psychiatric Genetics, 18: pp 25-30 (2007)

Thompson, S.R., Mccaskie, P.A., Beilby, J.P., Hung, J., Jennens, M., Chapman, C., Thompson, P. and Humphries, S.E. IL18 Haplotypes Are Associated with Serum IL-18 Concentrations in a Population-Based Study and a Cohort of Individuals with Premature Coronary Heart Disease, Clinical Chemistry, 53:12, pp 2078-2085 (2007)

Tirnitz-Parker, J.E., Tonkin, J.N., Knight, B., Olynyk, J.K. and Yeoh, G.C. Isolation, culture and immortalisation of hepatic oval cells from adult mice fed a choline-deficient, ethionine-supplemented diet, International Journal of Biochemistry & Cell Biology, 39: pp 2226-2239 (2007)

Vadasz, C., Saito, M., Gyetvai, B.M., Oros, M., Szakall, I., Kovacs, K.M., Prasad, V.V.T.S., Morahan, G. and Toth, R. Mapping of QTLs for Oral Alcohol Self-Administration in B6.C and B6.1 Quasi-Congenic RQI Strains, Neurochemical Research, 32: pp 1099-1112 (2007)

Vadasz, C., Saito, M., O'Brien, D., Zavadil, J., Morahan, G., Chakraborty, G. and Wang, R. Ventral Tegmental Transcriptome Response to Intermittent Nicotine Treatment and Withdrawal in BALB/cJ, C57BL/6ByJ, and Quasi-Congenic RQI Mice, Neurochemical Research, 32: pp 457-480 (2007)

Vajdic, C.M., Fritschi, L., Grulich, A.E., Kaldor, J.M., Benke, G., Kricker, A., Hughes, A.M., Turner, J.J., Milliken, S., Goumas, C. and Armstrong, B.K. Atopy, exposure to pesticides and risk of non-Hodgkin lymphoma, International Journal of Cancer, 120: pp 2271-2274 (2007)

Yeoh, G.C., Ernst, M., Rose-John, S., Akhurst, B., Payne, C., Long, S., Alexander, W., Croker, B., Grail, D. and Matthews, V.B. Opposing roles of gp130-mediated STAT-3 and ERK-1/2 signaling in liver progenitor cell migration and proliferation, Hepatology, 45:2, pp 486-494 (2007)

Yu, D., Tan, A.H., Hu, X., Athanasopoulos, V., Simpson, N., Silva, D.G., Hutloff, A., Giles, K.M., Leedman, P., Lam, K.P., Goodnow, C.C. and Vinuesa, C.G. Roquin represses autoimmunity by limiting inducible T-cell co-stimulator messenger RNA, Nature, 450: pp 299-303 (2007)