Research Topics
Genomes and Genes
| John F BatemanSummaryAffiliation: Royal Children's Hospital Country: Australia Publications
| Collaborators
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Detail Information
Publications
S100A8 and S100A9 in experimental osteoarthritisHala Zreiqat
Tissue Engineering and Biomaterials Research Unit, School of AMME J07, Faculty of Engineering, Bosch Institute, University of Sydney, Corner of Shepherd and Cleavland Street, New South Wales 2006, Australia
Arthritis Res Ther 12:R16. 2010..The objective was to evaluate the changes in S100A8 S100A9, and their complex (S100A8/S100A9) in cartilage during the onset of osteoarthritis (OA) as opposed to inflammatory arthritis...- Mutations of COL10A1 in Schmid metaphyseal chondrodysplasiaJohn F Bateman
Murdoch Childrens Research Institute, Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Victoria, Australia
Hum Mutat 25:525-34. 2005..Thus for both classes of mutations, functional haploinsufficiency is the most probable cause of the clinical phenotype in SMCD... - Genetic aspects of osteoarthritisJohn F Bateman
Cell and Matrix Biology Research Unit, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia
Semin Arthritis Rheum 34:15-8. 2005 - Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutationsJohn F Bateman
Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Childrens Hospital, Parkville, Victoria 3052, Australia
Nat Rev Genet 10:173-83. 2009..Moreover, recent experiments suggest that endoplasmic reticulum (ER) stress, caused by mutant misfolded ECM proteins, contributes to the molecular pathology. Targeting ER stress might offer a new therapeutic strategy... - Transcriptional profiling of chondrodysplasia growth plate cartilage reveals adaptive ER-stress networks that allow survival but disrupt hypertrophyTrevor L Cameron
Murdoch Childrens Research Institute, Parkville, Victoria, Australia
PLoS ONE 6:e24600. 2011..Thus they provide important insights into ER stress signaling and its impact on cartilage pathophysiology... - Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severityRishika A Pace
Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Victoria, Australia
Ann Neurol 64:294-303. 2008..Glycine mutations in the triple helix have been identified in both Bethlem and Ullrich congenital muscular dystrophy, but it is not known why they cause these different phenotypes... - Mice lacking the extracellular matrix protein WARP develop normally but have compromised peripheral nerve structure and functionJustin M Allen
Murdoch Children s Research Institute, Royal Children s Hospital, Parkville, Victoria 3052, Australia
J Biol Chem 284:12020-30. 2009..Our data demonstrate that although WARP is not essential for basement membrane formation or musculoskeletal development, it has critical roles in the structure and function of peripheral nerves... - Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophyLeona D Tooley
Departments of Paediatrics, Murdoch Childrens Research Institute, University of Melbourne, Royal Children s Hospital, Parkville, Victoria 3052, Australia
J Biol Chem 285:33567-76. 2010.... - WARP is a novel multimeric component of the chondrocyte pericellular matrix that interacts with perlecanJustin M Allen
Cell and Matrix Biology Research Unit, Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Flemington Road, Parkville, Victoria 3052, Australia
J Biol Chem 281:7341-9. 2006..We conclude that WARP forms macromolecular structures that interact with perlecan to contribute to the assembly and/or maintenance of "permanent" cartilage structures during development and in mature cartilages... - Comprehensive profiling of cartilage extracellular matrix formation and maturation using sequential extraction and label-free quantitative proteomicsRichard Wilson
Murdoch Childrens Research Institute, Royal Children s Hospital, Parkville, Melbourne, Victoria 3052, Australia
Mol Cell Proteomics 9:1296-313. 2010..The extraction profile and matrix-associated immunostaining implicates protease nexin-1 in cartilage development in vitro and in vivo... - Sorting of growth plate chondrocytes allows the isolation and characterization of cells of a defined differentiation statusDaniele Belluoccio
Murdoch Children s Research Institute, University of Melbourne, Royal Children s Hospital, Parkville, Victoria, Australia
J Bone Miner Res 25:1267-81. 2010..This approach provides a novel platform to study cartilage development and characterize mouse growth plate chondrocytes to reveal unique cellular phenotypes of the distinct subpopulations within the growth plate... - Deficiency of annexins A5 and A6 induces complex changes in the transcriptome of growth plate cartilage but does not inhibit the induction of mineralizationDaniele Belluoccio
Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, and Royal Children s Hospital, Parkville, Victoria, Australia
J Bone Miner Res 25:141-53. 2010..These results indicate that annexins A5 and A6 may not represent the essential annexins that promote mineralization in vivo... - Cartilage intermediate layer protein 2 (CILP-2) is expressed in articular and meniscal cartilage and down-regulated in experimental osteoarthritisBianca C Bernardo
Murdoch Childrens Research Institute, University of Melbourne, Parkville VIC 3052, Australia
J Biol Chem 286:37758-67. 2011..mRNA expression analysis indicated that whereas Cilp1 and Cilp2 are expressed most abundantly in cartilaginous tissues, expression can be detected in muscle and heart... - Misfolding of collagen X chains harboring Schmid metaphyseal chondrodysplasia mutations results in aberrant disulfide bond formation, intracellular retention, and activation of the unfolded protein responseRichard Wilson
Cell and Matrix Biology Research Unit, Murdoch Children s Research Institute, University of Melbourne, Royal Children s Hospital, Parkville, Victoria 3052, Australia
J Biol Chem 280:15544-52. 2005..Our data provide the first clear evidence for misfolding of SMCD collagen X mutants, and we propose that solvent exposure of the NC1 thiol may trigger the recognition and degradation of mutant collagen X chains... - Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3' UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasiaJacqueline T Tan
Murdoch Childrens Research Institute, University of Melbourne, Royal Children s Hospital, Parkville, Victoria 3052, Australia
Am J Hum Genet 82:786-93. 2008.... - Premature arthritis is a distinct type II collagen phenotypePeter Kannu
Murdoch Childrens Research Institute, University of Melbourne, and Genetic Health Services Victoria, Parkville, Melbourne, Australia
Arthritis Rheum 62:1421-30. 2010..Most importantly, it enables at-risk individuals to be identified for implementation of preventative strategies (i.e., weight loss, joint-friendly exercise programs) and early ameliorative management of their condition... - Proteomics makes progress in cartilage and arthritis researchRichard Wilson
Murdoch Childrens Research Institute, University of Melbourne, Royal Children s Hospital, Parkville, Victoria 3052, Australia
Matrix Biol 28:121-8. 2009..We conclude with our prediction of how emerging proteomic technologies that have yet to be applied in arthritis research are likely to contribute further important information... - Changes in the Chondrocyte and Extracellular Matrix Proteome during Post-natal Mouse Cartilage DevelopmentRichard Wilson
Murdoch Childrens Research Institute, Royal Children s Hospital, Parkville, Melbourne, Victoria 3052, Australia
Mol Cell Proteomics 11:M111.014159. 2012..This first proteomic analysis of cartilage development in vivo reveals the breadth of protein expression changes during chondrocyte maturation and ECM remodeling in the mouse femoral head... - Proteomic characterization of mouse cartilage degradation in vitroRichard Wilson
University of Melbourne, Murdoch Children s Research Institute, and Department of Paediatrics, Royal Children s Hospital, Parkville, Victoria, Australia
Arthritis Rheum 58:3120-31. 2008..To develop proteomics to analyze mouse cartilage degradation and correlate transcriptional and translational responses to catabolic stimuli... - Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: further evidence that collagen X NC1 mutations impair trimer assemblyJohn F Bateman
Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia
Hum Mutat 23:396. 2004..The data suggest that in these two patients, SMCD results from mutations at another gene locus. No mutations were detected in RMRP, the gene for cartilage-hair hypoplasia that has phenotypic overlap with SMCD... - Molecular consequences of dominant Bethlem myopathy collagen VI mutationsNaomi L Baker
Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Victoria, Australia
Ann Neurol 62:390-405. 2007..Although more than 20 different dominant mutations have been identified in Bethlem myopathy patients, the biosynthetic consequences of only a subset of these have been studied, and in many cases, the pathogenic mechanisms remain unknown... - Global comparative transcriptome analysis of cartilage formation in vivoTrevor L Cameron
Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Victoria 3052, Australia
BMC Dev Biol 9:20. 2009..Regulation of the onset of chondrogenesis is incompletely understood, and would be informed by comprehensive analyses of in vivo gene expression... - A microarray approach for comparative expression profiling of the discrete maturation zones of mouse growth plate cartilageDaniele Belluoccio
Murdoch Childrens Research Institute and the Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville 3052, Victoria, Australia
Biochim Biophys Acta 1779:330-40. 2008..Verification of a subset of differentially expressed genes by RT-PCR and by in situ hybridization confirmed the reliability of this approach... - Is there an evolutionary relationship between WARP (von Willebrand factor A-domain-related protein) and the FACIT and FACIT-like collagens?Jamie Fitzgerald
Murdoch Childrens Research Institute, University of Melbourne, Royal Children s Hospital, Parkville, VIC 3052, Australia
FEBS Lett 552:91-4. 2003..In support of this is the observation that the WARP 3' coding region is GC-rich suggesting that this may represent the remnant of a triple helix protein domain which WARP has 'lost' during evolution... - The extracellular matrix protein WARP is a novel component of a distinct subset of basement membranesJustin M Allen
Murdoch Childrens Research Institute, University of Melbourne, Royal Children s Hospital, Parkville, Victoria, Australia
Matrix Biol 27:295-305. 2008.... - Mutations in TRPV4 cause an inherited arthropathy of hands and feetShireen R Lamande
Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Australia
Nat Genet 43:1142-6. 2011..Our data raise the possibility that TRPV4 may also have a role in age- or injury-related osteoarthritis... - Collagen X chains harboring Schmid metaphyseal chondrodysplasia NC1 domain mutations are selectively retained and degraded in stably transfected cellsRichard Wilson
Cell and Matrix Biology Research Unit, Department of Paediatrics, University of Melbourne, Parkville, Victoria 3052, Australia
J Biol Chem 277:12516-24. 2002..Our data indicate, therefore, that the predominant effect of the NC1 mutations Y598D and 1963del10 is a reduction in the amount of functional collagen X within the growth cartilage extracellular matrix... - Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilageJohn F Bateman
Cell and Matrix Biology Research Unit, Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Victoria 3052, Australia
Hum Mol Genet 12:217-25. 2003.... - Proteomic analysis of mouse growth plate cartilageDaniele Belluoccio
Murdoch Childrens Research Institute and the Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia
Proteomics 6:6549-53. 2006..We have successfully resolved cartilage tissue extracts by 2-DE for the first time and identified cartilage ECM proteins by Western blotting and MS/MS... - A robust method for proteomic characterization of mouse cartilage using solubility-based sequential fractionation and two-dimensional gel electrophoresisRichard Wilson
Murdoch Childrens Research Institute, University of Melbourne, Royal Children s Hospital, Parkville, Victoria 3052, Australia
Matrix Biol 27:709-12. 2008.... - Proteomic analysis of cartilage proteinsRichard Wilson
Murdoch Childrens Research Institute, Royal Children s Hospital, Parkville, Victoria 3052, Australia
Methods 45:22-31. 2008..Here we review the approaches that have been used and describe in detail protocols for the proteomic analysis of cartilage tissues and cells... - ADAMTS-1-knockout mice do not exhibit abnormalities in aggrecan turnover in vitro or in vivoChris B Little
Arthritis Research Group, University of Melbourne, Royal Children s Hospital, Parkville, Victoria, Australia
Arthritis Rheum 52:1461-72. 2005..To determine the role of the proteinase ADAMTS-1 in normal and accelerated catabolism of aggrecan in articular and growth plate cartilage of mice... - Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophyNaomi L Baker
Cell and Matrix Biology, Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Victoria, Australia
Hum Mol Genet 14:279-93. 2005..Mutation detection in this disorder remains critical for accurate genetic counseling of patients and their families... - Familial digital arthropathy-brachydactylyDavid J Amor
Genetic Health Services Victoria, Royal Children s Hospital, Victoria, Australia
Am J Med Genet 108:235-40. 2002.... - Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutationsShireen R Lamande
Cell and Matrix Biology Research Unit, Department of Paediatrics, University of Melbourne, The Murdoch Childrens Research Institute, Royal Children s Hospital, Parkville, Victoria 3052, Australia
J Biol Chem 277:1949-56. 2002.... - WARP is a new member of the von Willebrand factor A-domain superfamily of extracellular matrix proteinsJamie Fitzgerald
Cell and Matrix Biology Research Unit, Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Vic, Australia
FEBS Lett 517:61-6. 2002..We conclude that WARP is a new member of the von Willebrand factor A-domain (VA-domain) superfamily of extracellular matrix proteins which may play a role in cartilage structure and function... - Why mice have lost genes for COL21A1, STK17A, GPR145 and AHRI: evidence for gene deletion at evolutionary breakpoints in the rodent lineageJamie Fitzgerald
Cell and Matrix Biology Research Unit, Murdoch Childrens Research Institute, and Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Victoria 3052, Australia
Trends Genet 20:408-12. 2004..We propose that "evolutionary breakpoint-associated gene deletion" is an unexpected consequence of evolutionary chromosome rearrangement, and we describe a novel mechanism through which genes can be lost during evolution... - Cartilage proteomics: Challenges, solutions and recent advancesRichard Wilson
Murdoch Children s Research Institute, University of Melbourne, Royal Children s Hospital, Parkville, Victoria, Australia
Proteomics Clin Appl 2:251-63. 2008..In this article, we will review progress in the proteomic characterization of cartilage-related samples... - The globular domain of the proalpha 1(I) N-propeptide is not required for secretion, processing by procollagen N-proteinase, or fibrillogenesis of type I collagen in micePaul Bornstein
Department of Biochemistry, The University of Washington, Seattle, Washington 98195, USA
J Biol Chem 277:2605-13. 2002..These findings suggest that although the N-propeptide is not essential for collagen biogenesis in mice it may play some essential role during embryonic development... - MT1-MMP-dependent and -independent regulation of gelatinase A activation in long-term, ascorbate-treated fibroblast cultures: regulation by fibrillar collagenNeeracha Ruangpanit
VBCRC Breast Cancer Invasion and Metastasis Unit, St. Vincent's Institute of Medical Research, Melbourne, Australia
Exp Cell Res 272:109-18. 2002..We were also unable to block this residual activation with inhibitors specific for serinyl, aspartyl, or cysteinyl enzymes... - Intracellular trafficking and degradation of unassociated proalpha2 chains of collagen type IMarilyn G Gotkin
Program in Biology, Graduate Center of the City University of New York, New York 11016, USA
Exp Cell Res 296:307-16. 2004..These results demonstrate that unassociated proalpha2(I) chains leave the endoplasmic reticulum, transit the Golgi, and enter lysosomes where they are degraded... - Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasiaPaul A James
Prenat Diagn 23:861-3. 2003