Medical Research, UWA Centre for

Journal Articles

Allan, R.K., Mok, D., Ward, B.K. and Ratajczak, T. Modulation of Chaperone Function and Cochaperone Interaction by Novobiocin in the C-terminal Domain of Hsp90 evidence that coumarin antibiotics disrupt Hsp90 dimerization, Journal of Biological Chemistry, 281:11, pp 7161-7171 (2006)

Almeida, O.P., Lautenschlager, N.T., Vasikaran, S., Leedman, P.J., Gelavis, A. and Flicker, L. A 20-week randomized controlled trial of estradiol replacement therapy for women aged 70 years and older: Effect on mood, cognition and quality of life, Neurobiology of Aging, 27: pp 141-149 (2006)

Archer, H.L., Whatley, S.D., Evans, J.C., Ravine, D., Huppke, P., Kerr, A., Bunyan, D., Kerr, B., Sweeney, E., Davies, S.J., Reardon, W., Horn, J., MacDermot, K.D., Smith, R.A., Magee, A., Donaldson, A., Crow, Y., Hermon, G., Miedzybrodzka, Z., Cooper, D.N., Lazarou, L., Butler, R., Sampson, J., Pilz, D.T., Laccone, F. and Clarke, A.J. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients, Journal of Medical Genetics, 43: pp 451-456 (2006)

Archer, H.L., Evans, J.C., Millar, D.S., Thompson, P.W., Kerr, A.M., Leonard, H., Christodoulou, J., Ravine, D., Lazarou, L., Grove, L., Verity, C., Whatley, S.D., Pilz, D.T., Sampson, J.R. and Clarke, A.J. NTNG1 Mutations Are a Rare Cause of Rett Syndrome, Amercian Journal of Medical Genetics, 140A: pp 691-694 (2006)

Carter, K.W., McCaskie, P.A. and Palmer, L.J. JLIN: A java based linkage disequilibrium plotter, BMC Bioinformatics, 7:60 (2006)

Chen, X., Wang, X., Hossain, S., O'Neill, F.A., Walsh, D., Pless, L., Chowdari, K.V., Nimgaonkar, V.L., Schwab, S.G., Wildenauer, D.B., Sullivan, P.F., van den Oord, E. and Kendler, K.S. Haplotypes spanning SPEC2, PDZ-GEF2 and ACSL6 genes are associated with schizophrenia, Human Molecular Genetics, 15:22, pp 3329-3342 (2006)

Chua, A.C.G., Drake, S.F., Herbison, C.E., Olynyk, J.K., Leedman, P.J. and Trinder, D. Limited iron export by hepatocytes contributes to hepatic iron-loading in the Hfe knockout mouse, Journal of Hepatology, 44: pp 176-182 (2006)

Colomer, J., Gooding, R.L., Angelicheva, D.G., King, R.H.M., Guillen-Navarro, E., Parman, Y., Nascimento, A., Conill, J. and Kalaydjieva, L.V. Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2, Neuromuscular Disorders, 16: pp 449-453 (2006)

Cuisset, J.M., Maurage, C.A., Pellissier, J.F., Barois, A., Urtizberea, J.A., Laing, N.G., Tajsharghi, H. and Vallee, L. 'Cap myopathy' : Case report of a family, Neuromuscular Disorders, 16: pp 277-281 (2006)

D'Amico, A., Graziano, C., Pacileo, G., Petrini, S., Nowak, K.J., Boldrini, R., Jacques, A., Feng, J.J., Porfirio, B., Sewry, C.A., Santorelli, F.M., Limongelli, G., Bertini, E., Laing, N.G. and Marston, S.B. Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation, Neuromuscular Disorders, 16: pp 548-552 (2006)

Davies, K.E. and Nowak, K.J. Molecular mechanisms of muscular dystrophies: old and new players, Nature Reviews Molecular Cell Biology, 7: pp 762-773 (2006)

Davies, R.A., Knight, B., Tian, Y.W., Yeoh, G.C.T. and Olynyk, J.K. Hepatic oval cell response to the choline-deficient, ethionine supplemented model of murine liver injury is attenuated by the administration of a cyclo-oxygenase 2 inhibitor, Carcinogenesis, 00:00, pp 1-10 (2006)

Donner, K., Nowak, K.J., Aro, M., Pelin, K. and Wallgren-Pettersson, C. Developmental and muscle-type-specific expression of mouse nebulin exons 127 and 128, Genomics, 88: pp 489-495 (2006)

Dye, D.E., Azzarelli, B., Goebel, H.H. and Laing, N.G. Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred, Neuromuscular Disorders, 16: pp 357-360 (2006)

Ganss, R. Tumor stroma fosters neovascularization by recruitment of progenitor cells into the tumor bed, Journal of Cellular and Molecular Medicine, 10:4, pp 857-865 (2006)

Goebel, H.H., Brockman, K., Bonnemann, C.G., Warlo, I.A., Hanefeld, F., Labeit, S., Durling, H.J. and Laing, N.G. Patient With Actin Aggregate Myopathy and Not Formerly Identified ACTA1 Mutation Is Heterozygous for the Gly15Arg Mutation of ACTA1, Which Has Previously Been Associated With Actinopathy, Journal of Child Neurology, 21: p 545 (2006)

Gold, D.R., Willwerth, B.M., Tantisira, K.G., Finn, P.W., Schaub, B., Perkins, D.L., Tzianabos, A., Ly, N.P., Schroeter, C., Gibbons, F., Campos, H., Oken, E., Gillman, M.W., Palmer, L.J., Ryan, L.M. and Weiss, S.T. Associations of cord blood fatty acids with lymphocyte proliferation, IL-13, and IFN-gamma, Journal of Allergy and Clinical Immunology, 117:4, pp 931-938 (2006)

Guergueltcheva, V., Tournev, I., Bojinova, V., Hantke, J., Litvinenko, I., Ishpekova, B., Shmarov, A., Petrova, J., Jordanova, A. and Kalaydjieva, L.V. Early Clinical and Electrophysiologic Features of the Two Most Common Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in the Roma (Gypsies), Journal of Child Neurology, 21: pp 20-25 (2006)

Hammerling, G.J. and Ganss, R. Vascular Integration of Endothelial Progenitors During Multistep Tumor Progression, Cellcycle, 5:5, pp 509-511 (2006)

Hatchell, E.C., Colley, S.M., Beveridge, D.J., Epis, M.R., Stuart, L.M., Giles, K.M., Redfern, A.D., Miles, L.E.C., Barker, A., MacDonald, L.M., Arthur, P.G., Lui, J.C., Golding, J.L., McCulloch, R.K., Metcalf, C.B., Wilce, J.A., Wilce, M.C.J., Lanz, R.B., O'Malley, B.W. and Leedman, P.J. SLIRP, a Small SRA Binding Protein, Is a Nuclear Receptor Corepressor, Molecular Cell, 22: pp 657-668 (2006)

Hui, J., Palmer, L.J., James, A.L., Musk, A.W. and Beilby, J.P. AluyMICB dimorphism within the class 1 region of the major histocompatibility complex is associated with asthma and airflow obstruction in the Busselton population, Clinical and Experimental Allergy, 36: pp 728-734 (2006)

Hutchinson, D.O., Charlton, A., Laing, N.G., Ilkovski, B. and North, K.N. Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: Clinical and pathological variability within a kindred, Neuromuscular Disorders, 16: pp 113-121 (2006)

Ingley, E., Schneider, J.R., Payne, C.J., McCarthy, D.J., Harder, K.W., Hibbs, M.L. and Klinken, S.P. Csk-binding Protein Mediates Sequential Enzymatic Down-regulation and Degradation of Lyn in Erythropoietin-stimulated Cells, Journal of Biological Chemistry, 281:42, pp 31920-31929 (2006)

Ingley, E. and Klinken, S.P. Cross-regulation of JAK and Src kinases, Growth Factors, 24:1, pp 89-95 (2006)

Jian, L., Nagarajan, L., de Klerk, N., Ravine, D., Bower, C., Anderson, A., Williamson, S., Christodoulou, J. and Leonard, H. Predictors of seizure onset in Rett syndrome, Journal of Pediatrics, 149: pp 542-547 (2006)

Kaimaktchiev, V., Goebel, H., Laing, N.G., Narus, M., Weeks, D. and Nixon, R. Intranuclear nemaline rod myopathy, Muscle & Nerve, 34: pp 369-372 (2006)

Kalaydjieva, L.V. Congenital Cataracts - Facial Dysmorphism - Neuropathy, Orphanet Journal of Rare Diseases, 1:32 (2006)

Kankirawatana, P., Leonard, H., Ellaway, C., Scurlock, J., Mansour, A., Makris, C.M., Dure, L.S., Friez, M., Lane, J., Kiraly-Borri, C., Fabian, V., Davis, M., Jackson, J., Christodoulou, J., Kaufmann, W.E., Ravine, D. and Percy, A.K. Early progressive encephalopathy in boys and MECP2 mutations, Neurology, 67: pp 164-166 (2006)

Kim, S.H., Oh, J.M., Kim, Y.S., Palmer, L.J., Suh, C.H., Nahm, D.H. and Park, H.S. Cysteinyl leukotriene receptor 1 promoter polymorphism is associated with aspirin-intolerant asthma in males, Clinical and Experimental Allergy, 36: pp 433-439 (2006)

Lamont, P. and Laing, N.G. Laing Distal Myopathy, GeneReviews at GeneTests (2006)

Lamont, P.J., Udd, B., Mastaglia, F.L., de Visser, M., Hedera, P., Voit, T., Bridges, L.R., Fabian, V., Rozemuller, A. and Laing, N.G. Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy, Journal of Neurology, Neurosurgery and Psychiatry, 77: pp 208-215 (2006)

Laurvick, C.L., de Klerk, N., Bower, C., Christodoulou, J., Ravine, D., Ellaway, C., Williamson, S. and Leonard, H. Rett syndrome in Australia: a review of the epidemiology, Journal of Pediatrics, 148: pp 347-352 (2006)

Lawler, S.P., Kvaskoff, M., DiSipio, T., Whiteman, D., Eakin, E., Aitken, J. and Fritschi, J.E. Solaria use in Queensland, Australia, Australian and New Zealand Journal of Public Health, 30:5, pp 479-482 (2006)

Lee, J.D.Y. and Palmer, L.J. The Western Australian Twin Register: A Population-Based Register of Adult and Child Multiples, Twin Research and Human Genetics, 9:6, pp 712-717 (2006)

Lehtokari, V.L., Pelin, K., Sandbacka, M., Ranta, S., Donner, K., Muntoni, F., Sewry, C., Angelini, C., Bushby, K., Van den Bergh, P., Iannaccone, S., Laing, N.G. and Wallgren-Pettersson, C. Identification of 45 Novel Mutations in the Nebulin Gene Associated With Autosomal Recessive Nemaline Myopathy, Human Mutation, 27:9, pp 946-956 (2006)

Lim, R., Knight, B., Patel, K., McHutchison, J.G., Yeoh, G.C. and Olynyk, J.K. Antiproliferative Effects of Interferon Alpha on Hepatic Progenitor Cells In Vitro and In Vivo, Hepatology, 43: pp 1074-1083 (2006)

Lynch, J.L., deSilva, C.J.S., Peeva, V.K. and Swanson, N.R. Comparison of commercial probe labeling kits for microarray: Towards quality assurance and consistency of reactions, Analytical Biochemistry, 355: pp 224-231 (2006)

Lyons, M.A. Arachidonate 5-Lipoxygenase Variants in Atherosclerosis, Obesity, and Bone Traits, Circulation Research, 98: p 66 (2006)

Lyons, M.A. and Wittenburg, H. Susceptibility to cholesterol gallstone formation: Evidence that LITH genes also encode immune-related factors, Biochimica et Biophysica Acta-Molecular and Cell Biology of Lipids, 1761: pp 1133-1147 (2006)

Lyons, M.A. and Wittenburg, H. Cholesterol Gallstone Susceptibility Loci: A Mouse Map, Candidate Gene Evaluation, and Guide to Human LITH Genes, Gastroenterology, 131:6, pp 1943-1970 (2006)

McCaskie, P.A., Cadby, G., Hung, J., McQuillan, B.M., Chapman, C.M.L., Carter, K.W., Thompson, P.L., Palmer, L.J. and Beilby, J.P. The C-480T hepatic lipase polymorphism is associated with HDL-C but not with risk of coronary heart disease, Clinical Genetics, 70: pp 114-121 (2006)

McCune, C.A., Ravine, D., Carter, K., Jackson, H.A., Hutton, D., Hedderich, J., Krawczak, M. and Worwood, M. Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients, GUT, 55: pp 554-562 (2006)

Mok, D., Allan, R.K., Carrello, A., Wangoo, K., Walkinshaw, M.D. and Ratajczak, T. The chaperone function of cyclophilin 40 maps to a cleft between the prolyl isomerase and tetratricopeptide repeat domains, Federation of European Biochemical Societies Letters, 580: pp 2761-2768 (2006)

Narendran, P., Neale, A.M., Lee, B.H., Ngui, K., Steptoe, R.J., Morahan, G., Madsen, O., Dromey, J.A., Jensen, K.P. and Harrison, L.C. Proinsulin is encoded by an RNA splice variant in human blood myeloid cell, Proceedings of the National Academy of Sciences of the United States of America, 103:44, pp 16430-16435 (2006)

Nelson, D. and Ganss, R. Tumor growth or regression: powered by inflammation, Journal of Leukocyte Biology, 80:4, pp 685-690 (2006)

O'Leary, P.C., Feddema, P.H., Michelangeli, V.P., Leedman, P.J., Chew, G.T., Knuiman, M.W., Kaye, J. and Walsh, J.P. Investigations of thyroid hormones and antibodies based on a community health survey: the Busselton thyroid study, Clinical Endocrinology, 64: pp 97-104 (2006)

Peng, J.C., AbuBakar, S., Richardson, M.M., Jonsson, J.J., Frazer, I.H., Nielsen, L.K., Morahan, G. and Thomas, R. IL10 and IL12B polymorphisms each influence IL-12 p70 secretion by dendritic cells in response to LPS, Immunolology and Cell Biology, 84: pp 227-232 (2006)

Pfleger, K.D.G., Seeber, R.M. and Eidne, K.A. Bioluminescence resonance energy transfer (BRET) for the real-time detection of protein-protein interactions, Nature Protocols, 1:1, pp 336-344 (2006)

Pfleger, K.D.G. and Eidne, K.A. Illuminating insights into protein-protein interactions using bioluminescence resonance energy transfer (BRET), Nature Methods, 3:3, pp 165-174 (2006)

Pfleger, K.D.G., Dromey, J.R., Dalrymple, M.B., Lim, E.M.L., Thomas, W.G. and Eidne, K.A. Extended bioluminescence resonance energy transfer (eBRET) for monitoring prolonged protein-protein interactions in live cells, Cellular Signalling, 18: pp 1664-1670 (2006)

Rea, S.L., Walsh, J.P., Ward, L., Yip, K.H., Ward, B.K., Kent, G.N., Steer, J.H., Xu, J. and Ratajczak, T. A Novel Mutation (K378X) in the Sequestosome 1 Gene Associated With Increased NF-kB Signaling and Paget's Disease of Bone With a Severe Phenotype, Journal of Bone and Mineral Research, 21:7, pp 1136-1145 (2006)

Rich, S.S., Concannon, P., Erlich, H., Julier, C., Morahan, G., Nerup, J., Pociot, F. and Todd, J.A. The Type 1 Diabetes Genetics Consortium, Annals of the New York Academy of Sciences, 1079: pp 1-8 (2006)

Riebke, R., Garbi, N., Ganss, R., Hammerling, G.J., Arnold, B. and Oelert, T. CD8+ regulatory T cells generated by neonatal recognition of peripheral self-antigen, Proceedings of the National Academy of Sciences of the United States of America, 103:41, pp 15142-15147 (2006)

Saxena, A., de Lagarde, D., Leonard, H., Williamson, S.L., Vasudevan, V., Christodoulou, J., Thompson, E., MacLeod, P. and Ravine, D. Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2, Journal of Medical Genetics, 43: pp 470-477 (2006)

Scaife, R.M. Microtubule Disassembly and Inhibition of Mitosis by a Novel Synthetic Pharmacophore, Journal of Cellular Biochemistry, 98: pp 102-114 (2006)

Schaeffer, L., Gohlke, H., Müller, M., Heid, I.M., Palmer, L.J., Kompauer, I., Demmelmair, H., Illig, T., Koletzko, B. and Heinrich, J. Common genetic variants of the FADS1 FADS2 gene cluster and their reconstructed haplotypes are associated with the fatty acid composition in phospholipids, Human Molecular Genetics, 15:11, pp 1745-1756 (2006)

Schwab, S.G., Knapp, M., Sklar, P., Eckstein, G.N., Sewekow, C., Borrmann-Hassenbach, M., Albus, M., Becker, T., Hallmayer, J.F., Lerer, B., Maier, W. and Wildenauer, D.B. Evidence for association of DNA sequence variants in the phosphatidylinositol-4-phosphate 5-kinase IIalpha gene (PIP5K2A) with schizophrenia, Molecular Psychiatry, 11: pp 837-846 (2006)

Scott, A.P., Allcock, R.J.N., Mastaglia, F.L., Nishino, I., Nonaka, I. and Laing, N.G. Sporadic inclusion body myositis in Japanese is associated with the MHC ancestral haplotype 52.1, Neuromuscular Disorders, 16: pp 311-315 (2006)

Shingde, M.V., Spring, P.J., Maxwell, A., Wills, E.J., Harper, C.G., Dye, D.E., Laing, N.G. and North, K.N. Myosin storage (hyaline body) myopathy: A case report, Neuromuscular Disorders, 16: pp 882-886 (2006)

Sinigerska, I., Chandler, D., Vaghjiani, V., Hassanova, I., Gooding, R.L., Morrone, A., Kremensky, I. and Kalaydjieva, L.V. Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population, Molecular Genetics and Metabolism, 88: pp 93-95 (2006)

Smith, G.D., Gwinn, M., Ebrahim, S., Palmer, L.J. and Khoury, M.J. Make it HuGE: human genome epidemiology reviews, population health, and the IJE, International Journal of Epidemiology, 35: pp 507-510 (2006)

Viebahn, C.S., Tirnitz-Parker, J.E., Olynyk, J.K. and Yeoh, G.C. Evaluation of the "Cellscreen" system for proliferation studies on liver progenitor cells, European Journal of Cell Biology, 85: pp 1265-1274 (2006)

Wallefeld, W., Krause, S., Nowak, K.J., Dye, D.E., Horvath, R., Molnar, Z., Szabo, M., Hashimoto, K., Reina, C., Carlos, J.D., Rosell, J., Cabello, A., Navarro, C., Nishino, I., Lochmuller, H. and Laing, N.G. Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1), Neuromuscular Disorders, 16: pp 541-547 (2006)

Wallgren-Pettersson, C. and Laing, N.G. 138th ENMC Workshop: Nemaline Myopathy, 20-22 May 2005, Naarden, The Netherlands, Neuromuscular Disorders, 16: pp 54-60 (2006)

Walsh, J.P., Bremner, A.P., Bulsara, M.K., O'Leary, P., Leedman, P.J., Feddema, P. and Michelangeli, V. Subclinical thyroid dysfunction and blood pressure: a community-based study, Clinical Endocrinology, 65: pp 486-491 (2006)

Ward, B.K., Cameron, F.J., Magno, A.L., McDonnell, C.M., Stuckey, B.G.A. and Ratajczak, T. A novel Homozygous Deletion in the Calcium-Sensing Receptor Ligand-Binding Domain Associated with Neonatal Severe Hyperparathyroidism. , Journal of Pediatric Endocrinology & Metabolism, 19: pp 93-100 (2006)

Ward, B.K., Magno, A.L., Blitvich, B.J., Rea, A.J., Stuckey, B.G.A., Walsh, J.P. and Ratajczak, T. Novel mutations in the calcium-sensing receptor gene associated with biochemical and functional differences in familial hypocalciuric hypercalcaemia, Clinical Endocrinology, 64: pp 580-587 (2006)

Willwerth, B.M., Schaub, B., Tantisira, K.G., Gold, D.R., Palmer, L.J., Litonjua, A.A., Perkins, D.L., Schroeter, C., Gibbons, F.K., Gillman, M.W., Weiss, S.T. and Finn, P.W. Prenatal, perinatal, and heritable influences on cord blood immune responses, Annals of Allergy Asthma & Immunology, 96:3, pp 445-453 (2006)

Winteringham, L.N., Endersby, R., Kobelke, S.J., McCulloch, R.K., Williams, J.H., Stillitano, J., Cornwall, S.M., Ingley, E. and Klinken, S.P. Myeloid Leukemia Factor 1 Associates with a Novel Heterogeneous Nuclear Ribonucleoprotein U-like Molecule, Journal of Biological Chemistry, 281:50, pp 38791-3800 (2006)

Wittenburg, H., Lyons, M.A., Li, R., Kurtz, U., Wang, X., Mossner, J., Churchill, G.A., Carey, M.C. and Paigen, B. QTL mapping for genetic determinants of lipoprotein cholesterol levels in combined crosses of inbred mouse strains, Journal of Lipid Research, 47: pp 1780-1790 (2006)

Others

Carter, K.W., McCaskie, P.A. and Palmer, L.J. A Java based Linkage Disequilibrium plotter, 1.5.2 March 2006, http://genepi.org.au/jlin (2006)

Ingley, E. and Klinken, S.P. Erythrocytes, Encyclopedia of Respiratory Medicine, X: p XXXX, London (2006)

McCaskie, P.A., Carter, K.W. and Palmer, L.J. SimHap: A comprehensive modelling framework and a simulation-based approach to haplotypic analysis of population-based data, B2.1 March 2006, http://genepi.org.au/simhap (2006)