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Network Member Profile (Overseas Affiliate)

Current Field of Study

• Craniofacial development and dysmorphology.

Australian Collaborators

• Prof Emma Whitelaw (Queensland institute of Medical Research, Herston, QLD)
• Dr David David (Australian Craniofacial Unit, Women’s and Children’s Hospital, North Adelaide, SA)
• Dr Tony Roscioli (Royal Prince Alfred Hospital, Randwick, NSW)

International Collaborators

• Dr Michael Massiah (Dept of Biochemistry & Molecular Biology, Oklahoma State University, Stillwater, OK, USA)
• Dr Stefan Bagby (Dept of Biology & Biochemistry, University of Bath, Bath, UK)
• Prof Michael Cunningham (Dept of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA)
• A/Prof Benedikt Hallgrimsson (Dept of Cell Biology & Anatomy, University of Calgary, Canada)
• A/Prof Mark Rieder (Dept of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA)

Recent Publications

Tao, H., Simmons, B.N., Singireddy, S., Jakkidi, M., Short, K.M., COX, T.C., & Massiah, M.A. Structure of the MID1 tandem B-boxes reveals an interaction reminiscent of intermolecular RING heterodimers. (2008) Biochemistry. 47:2450-2457.

Massiah, M.A., Matts, J.A.B., Short, K.M., Simmons, B.N., Singireddy, S., Zou, Y. & COX, T.C. (2007) Solution structure of the MID1 Bbox2 domain: Insights into an evolutionary conserved RING fold. Journal of Molecular Biology. 369:1-10.

Anderson, P.J., COX, T.C., Roscioli, T., Elakis, G., Smithers, L., David, D.J. & Powell, B.(2007) Somatic FGFR and TWIST mutations are not a common cause of isolated non- syndromic single suture craniosynostosis. Journal of Craniofacial Surgery. 18:312-314.

Washbourne, B.J. & COX, T.C. (2006) Expression profiles of cIRF6, cLHX6 and cLHX7 in the facial primordia suggest specific roles during primary palatogenesis. BMC Developmental Biology. 6:18.

Massiah, M.A., Simmons, B.S., Short, K.M. & COX, T.C. (2006) Solution structure of the RBCC/TRIM B-box1 domain of human MID1: B-box with a RING. Journal of Molecular Biology 358:532-545.

Short, K.M. & COX, T.C. (2006) Sub-classification of the RBCC/TRIM superfamily reveals a novel motif necessary for microtubule binding. Journal of Biological Chemistry 281:8970-8980.

McGaughran, J., Sinnott, S., Susman, R., Buckley, M.F., Elakis, G., COX, T.C., & Roscioli, T. (2006) A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype. Clinical Dysmorphology 15:89-93.

Anderson, P.J., Netherway, D.N., COX, T.C. Roscioli, T. & David, D.J. (2006) Do craniosynostosis syndrome phenotypes with both FGFR2 and TWIST mutations have a worse clinical outcome? Journal of Craniofacial Surgery 17:166-172.

Parashar, S.Y., Anderson, P.J., COX, T.C., McLean, N., & David, D.J. (2005) Multidisciplinary management of Opitz GBBB Syndrome. Annals of Plastic Surgery 55:402-408.

McGillivray, G., Savarirayan, R., COX, T.C., Stojkoski, C., McNeil, R., Bankier, A., Bateman, J.F., Rosciolo, T., Gardner, R.J.M. & Lamande, S.R. (2005) Familial Scaphocephaly Syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. Journal of Medical Genetics 42:656–662.

So, J., Suckow, V., Kijas, Z., Kalscheuer, V., Moser, B., Winter, J., Baars, M., Firth, H., Lunt, P., Hamel, P., Meinecke, P., Moraine, C., Odent, S., Schinzel, A., van der Smagt, J.J., Devriendt, K., Albrecht, B., Gillessen-Kaesbach, G., van der Burgt, I., Petrij, F., Faivre, L., McGaughran, J., McKenzie, F., Opitz, J.M., COX, T.C. & Schweiger, S. (2005) Mild phenotypes in a series of patients with Opitz BBBG syndrome with MID1 mutations. American Journal of Medical Genetics 132(1):1-7.

COX, T.C. (2004) Taking it to the max: the genetic and developmental mechanisms coordinating midfacial development and dysmorphology. Clinical Genetics 65:163-176. ( Invited Review).

Anderson, P.J., Netherway, D.N., Abbot, A.H., COX, T.C., Roscioli, T. & David, D.J. (2004) Analysis of intracranial volume in apert syndrome genotypes. Pediatr. Neurosurg. 2004 40(4):161-4.

Camp, E.C, Hope, R, Kortschak, R.D, COX, T.C, & Lardelli, M.T. (2003) Expression of three spalt (sal) gene homologues in zebrafish embryos. Development, Genes and Evolution 213:35-43.

Graham, Jr, J.M, Wheeler, P, Tackels-Horne, D, Lin, A, Hall, B.D, May, M, Short, K.M, Schwartz, C.E, & COX, T.C. (2003) A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13. American Journal of Medical Genetics 123A:37-44.

Schwarz, Q.P, & COX, T.C. (2002) Complementation of a yeast CYC3 deficiency identifies an X-linked mammalian activator of apocytochrome c. Genomics 79:51-57.

Short, K.M, Hopwood, B, Zou, Y, & COX, T.C. (2002) MID1 and MID2 homo- and hetero-dimerise to tether the rapamycin-sensitive PP2A regulatory subunit, Alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders. BMC Cell Biology 3:1.

Richman, J, Fu, K.K, Cox, L.L, Sibbons, J.P, & COX, T.C. (2002) Isolation and characterisation of the chick orthologue of the X-linked Opitz syndrome gene, MID1, supports a highly conserved role in vertebrate development. International Journal of Developmental Biology 46:441-448.