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Publications

Selected publications

2010 publications

  • Belluoccio D, Etich J, Rosenbaum S, Frie C, Grskovic I, Stermann J, Ehlen H, Vogel S, Zaucke F, von der Mark K, Bateman JF, Brachvogel B. Sorting of growth plate chondrocytes allows the isolation and characterisation of cells of a defined differentiation status.. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research (2010) PubMed

  • Belluoccio D, Grskovic I, Niehoff A, Schlötzer-Schrehardt U, Rosenbaum S, Etich J, Frie C, Pausch F, Moss SE, Pöschl E, Bateman JF, Brachvogel B. Deficiency of Annexins A5 and A6 Induces Complex Changes in the Transcriptome of Growth Plate Cartilage, But Does Not Inhibit the Induction of Mineralisation.. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 25 (1) : 141 - 153(2010) PubMed

  • David-Vizcarra G, Briody J, Ault J, Fietz M, Fletcher J, Savarirayan R, Wilson M, McGill J, Edwards M, Munns C, Alcausin M, Cathey S, Sillence D. The natural history and osteodystrophy of mucolipidosis types II and III.. Journal of Paediatrics and Child Health (2010) PubMed

  • Dimasi DP, Burdon KP, Hewitt AW, Savarirayan R, Healey PR, Mitchell P, Mackey DA, Craig JE. Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness.. Molecular vision 16 : 562 - 9(2010) PubMed

  • Dimasi DP, Chen JY, Hewitt AW, Klebe S, Davey R, Stirling J, Thompson E, Forbes R, Tan TY, Savarirayan R, Mackey DA, Healey PR, Mitchell P, Burdon KP, Craig JE. Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes.. Human Genetics 127 (1) : 33 - 44(2010) PubMed

  • Duncan RE, Gillam L, Savulescu J, Williamson R, Rogers JG, Delatycki MB. The challenge of developmentally appropriate care: predictive genetic testing in young people for familial adenomatous polyposis. Familial Cancer 9 : 27 - 35(2010) PubMed

  • Ireland PJ, Johnson S, Donaghey S, Johnston L, McGill J, Zankl A, Ware RS, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshend S. Developmental milestones in infants and young Australasian children with achondroplasia.. Journal of developmental and behavioral pediatrics : JDBP 31 (1) : 41 - 7(2010) PubMed

  • Kannu P, Bateman JF, Randle S, Cowie S, du Sart D, McGrath S, Edwards M, Savarirayan R. Premature arthritis is a distinct type II collagen phenotype. Arthritis and Rheumatism 62 (5) : 1421 - 1430(2010) PubMed

  • Martinelli S, De Luca A, Stellacci E, Rossi C, Checquolo S, Lepri F, Caputo V, Silvano M, Buscherini F, Consoli F, Ferrara G, Digilio MC, Cavaliere ML, van Hagen JM, Zampino G, van der Burgt I, Ferrero GB, Mazzanti L, Screpanti I, Yntema HG, Nillesen WM, Savarirayan R, Zenker M, Dallapiccola B, Gelb BD, Tartaglia M. Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype.. American Journal of Human Genetics (2010) PubMed

  • Perdu B, de Freitas F, Frints SG, Schouten M, Schrander-Stumpel C, Barbosa M, Pinto-Basto J, Reis-Lima M, de Vernejoul MC, Becker K, Freckmann ML, Keymolen K, Haan E, Savarirayan R, Koenig R, Zabel B, Vanhoenacker FM, Van Hul W. Osteopathia striata with cranial sclerosis owing to WTX gene defect.. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 25 (1) : 82 - 90(2010) PubMed

  • Sexton A, Furmedge J, Barnes C, Cheetham G, Wallace J, Savarirayan R. Clinical significance of two mutations in the factor IX gene in a family with haemophilia B.. Haemophilia : the official journal of the World Federation of Hemophilia 16 (2) : 374 - 6(2010) PubMed

  • Tsang KY, Chan D, Bateman JF, Cheah KS. In vivo cellular adaptation to ER stress: survival strategies with double-edged consequences.. Journal of Cell Science 123 (Pt 13) : 2145 - 54(2010) PubMed

  • Wilson R, Diseberg AF, Gordon L, Zivkovic S, Tatarczuch L, Mackie EJ, Gorman JJ, Bateman JF. Comprehensive profiling of cartilage extracellular matrix formation and maturation using sequential extraction and label-free quantitative proteomics.. Molecular & cellular proteomics : MCP (2010) PubMed

  • Zreiqat H, Belluoccio D, Smith MM, Wilson R, Rowley LA, Jones K, Ramaswamy Y, Vogl T, Roth J, Bateman JF, Little CB. S100A8 and S100A9 in experimental osteoarthritis.. Arthritis Research & Therapy 12 (1) : R16 - R16(2010) PubMed

2009 publications

  • Ahimastos AA, Aggarwal A, Savarirayan R, Dart AM, Kingwell BA. A role for plasma transforming growth factor-beta and matrix metalloproteinases in aortic aneurysm surveillance in Marfan syndrome?. Atherosclerosis (2009) PubMed

  • Allen JM, Zamurs L, Brachvogel B, Schlotzer-Schrehardt U, Hansen U, Lamande SR, Rowley L, Fitzgerald J, Bateman JF. Mice lacking the extracellular matrix protein warp develop normally but have compromised peripheral nerve structure and function.. The Journal of biological chemistry 284 (18) : 12020 - 12030(2009) PubMed

  • Bateman JF, Boot-Handford RP, Lamandé SR. Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations.. Nature reviews. Genetics 10 (3) : 173 - 83(2009) PubMed

  • Cameron TL, Belluoccio D, Farlie PG, Brachvogel B, Bateman JF. Global comparative transcriptome analysis of cartilage formation in vivo.. BMC Developmental Biology 9 (1) : 20 - 20(2009) PubMed

  • Campos-Xavier AB, Martinet D, Bateman J, Belluoccio D, Rowley L, Tan TY, Baxová A, Gustavson KH, Borochowitz ZU, Innes AM, Unger S, Beckmann JS, Mittaz L, Ballhausen D, Superti-Furga A, Savarirayan R, Bonafé L. Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia.. American Journal of Human Genetics 84 (6) : 760 - 770(2009) PubMed

  • Ishida Y, Yamamoto A, Kitamura A, Lamandé SR, Yoshimori T, Bateman JF, Kubota H, Nagata K. Autophagic Elimination of Misfolded Procollagen Aggregates in the Endoplasmic Reticulum as a Means of Cell Protection.. Molecular Biology of the Cell 20 (11) : 2744 - 2754(2009) PubMed