Timothy C. Cox, PhD, is professor of pediatrics at the University of Washington and an adjunct faculty member in the Department of Oral Biology. His primary research interests focus on the genetic and epigenetic factors that regulate development of the craniofacial region and how perturbations in these factors contribute in particular to the presentation of cleft lip and palate. He has also had a long interest and involvement in both X-linked and mitochondrial diseases. His research team employs existing and newly developed in-house genetic technologies to create and investigate mouse and chick embryo models of cleft lip and palate. Dr Cox’s interests also extend to other craniofacial malformations (most notably the craniosynostoses) and the development of strategies to better diagnose, manage and counsel patients. He held several leading positions in craniofacial medicine in Australia, including director of genetic programs at the Australian Craniofacial Unit and co-director of Monash University’s MouseWorks, a highly regarded mouse genetic modification facility.
- Kaminen-Ahola N, Ahola A, Maga M, Mallitt K-A, Fahey P, Cox TC, Whitelaw E, Chong S. (2010) Maternal ethanol consumption alters the epigenotype and the phenotype of offspring in a mouse model. PLoS Genetics 6(1) doi:10.1371/journal.pgen.1000811.
- Drenckhahn JD, Schwarz QP, Gray S, Laskowski A, Kiriazis H, Ming Z, Harvey RP, Du XJ, Thorburn DR. Cox TC. (2008) Compensatory growth of healthy cardiac cells in the presence of diseased cells restores tissue homeostasis during heart development . Developmental Cell 15:521-533.
- Ashe A, Morgan DK, Whitelaw N, Bruxner TJ, Vickaryous NK, Cox LL, Butterfield NC, Wicking C, Blewitt M, Wilkins S, Anderson G, Cox TC, Whitelaw E. (2008) A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development. Genome Biology 9(12) doi:10.1186/gb-2008-9-12-r182.
- Tao, H., Simmons, B.N., Singireddy, S., Jakkidi, M., Short, K.M., COX, T.C., & Massiah, M.A. (2008) Structure of the MID1 tandem B-boxes reveals an interaction reminiscent of intermolecular RING heterodimers. Biochemistry. 47:2450-2457.
- 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.
- Washbourne BJ, Cox TC. (2006) Expression profiles of cIRF6,cLHX6 and cLHX7 in the facial primordia suggest specific roles during primary palatogenesis. BMC Developmental Biology 6:18.
- McGillivray G, Savarirayan R, Cox TC, Stojkoski C, McNeil R, Bankier A, Bateman JF, Rosciolo T, Gardner RJM, Lamande SR. (2005) Familial Scaphocephaly Syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. Journal of Medical Genetics42:656–662.
- Cox, TC. (2004) Taking it to the max: the genetic and developmental mechanisms coordinating midfacial morphogenesis and dysmorphology. Clinical Genetics 65:163-176.
- Short KM, Hopwood B, Zou Y, Cox TC. (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.
- Cox TC , Allen LR, Cox LL, Hopwood B, Goodwin B, Haan E, Suthers GK. (2000) New mutations in MID1 provide support for loss-of-function as the cause of X-linked Opitz syndrome. Human Molecular Genetics 9:2553-2562.