Profile

Timothy Cox, PhD

Timothy Cox, PhD

Children's Title: Laurel Foundation Endowed Chair in Pediatric Craniofacial Medicine

Academic Title: Research Professor of Pediatrics at the University of Washington

Research Center: Center for Developmental Biology and Regenerative Medicine

"I have always been drawn to understanding how biological structures take form. The face is one of the most complex structures in terms of how it develops into a functional organ. It is also one of the most amazing, given how much we depend on it for recognition of self, family, friends and strangers. Facial abnormalities affect not only feeding, breathing and self-esteem, but also sadly how individuals are viewed by and integrated into society. Researching how genes and environmental factors contribute to facial birth defects such as cleft lip will, I hope, one day help lead to preventive strategies to minimize the burden on children and their families."

Timothy C. Cox, PhD, is research professor in the Department of Pediatrics at the University of Washington School of Medicine, adjunct faculty member in the Department of Oral Biology, and a member of the Seattle Children's Research Institute's Center for Developmental Biology and Regenerative Medicine. Dr. Cox is an affiliate member of the Center on Human Development and Disability, and holds the Laurel Foundation Endowed Chair in Pediatric Craniofacial Research.

Dr. Cox's 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. His research team employs a variety of genetic technologies and advanced three-dimensional imaging technologies to investigate mouse and chick embryo models of cleft lip and palate. Dr. Cox's interests also extend to other craniofacial malformations (including midfacial hypoplasia and 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, and was a past president of the Australia and New Zealand Society for Cell and Developmental Biology.

Overview

Research Description

My 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. I have also had a long interest and involvement in both X-linked and mitochondrial diseases. My 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. My interests also extend to other craniofacial malformations (most notably the craniosynostoses) and the development of strategies to better diagnose, manage and counsel patients.

Lab URL

http://www.seattlechildrens.org/research/developmental-biology-regenerative-medicine/cox-lab/

Research Focus Area

Translational Research, Craniofacial

Awards and Honors

Award Name Award Description Awarded By Award Date
Recipient, Laurel Foundation Endowed Chair in Pediatric Craniofacial Research University of Washington 2011
Recipient, Keith Sheridan Research Associateship 2004
Elected President, Australia & New Zealand Society for Cell & Developmental Biology (2 year term) 2000
Recipient, NH & MRC R. Douglas Wright Award (4 years) 1999
Recipient, AMRAD Post-Doctoral Award for Excellence in Biomedical Research 1996
Certificate of Merit, Pharmacia Biotech & Science Prize for Young Scientists 1995
Recipient, NH & MRC C.J. Martin Post-Doctoral Training Fellowship (4 years) 1994
Recipient, Promega (Australia) National Student Award 1992
Commendation, South Australian Young Achiever's Award 1992 - 1993
Recipient, NH & MRC Biomedical Postgraduate Scholarship 1990

Publications

  • Cox TC, Camci ED, Vora S, Luquetti DV, Turner EE
    The genetics of auricular development and malformation: New findings in model systems driving future directions for microtia research.
    European journal of medical genetics , 2014 May 29
  • McRay B, Cox TC, Cohenca N, Johnson JD, Paranjpe A
    A micro-computed tomography-based comparison of the canal transportation and centering ability of ProTaper Universal rotary and WaveOne reciprocating files.
    Quintessence international (Berlin, Germany : 1985) , 2014 Feb. : 45(2)101-8
  • Turner EE, Cox TC
    Genetic evidence for conserved non-coding element function across species-the ears have it.
    Frontiers in physiology , 2014 : 57
  • Wang KH, Heike CL, Clarkson MD, Mejino JL, Brinkley JF, Tse RW, Birgfeld CB, Fitzsimons DA, Cox TC
    Evaluation and integration of disparate classification systems for clefts of the lip.
    Frontiers in physiology , 2014 : 5163
  • Turner EE, Cox TC
    Genetic evidence for conserved non-coding element function across species-the ears have it.
    Frontiers in physiology , 2014 : 57
  • Lu T, Chen R, Cox TC, Moldrich RX, Kurniawan N, Tan G, Perry JK, Ashworth A, Bartlett PF, Xu L, Zhang J, Lu B, Wu M, Shen Q, Liu Y, Richards LJ, Xiong Z
    X-linked microtubule-associated protein, Mid1, regulates axon development.
    Proceedings of the National Academy of Sciences of the United States of America , 2013 Nov. 19 : 110(47)19131-6
  • Lu T, Chen R, Cox TC, Moldrich RX, Kurniawan N, Tan G, Perry JK, Ashworth A, Bartlett PF, Xu L, Zhang J, Lu B, Wu M, Shen Q, Liu Y, Richards LJ, Xiong Z
    X-linked microtubule-associated protein, Mid1, regulates axon development.
    Proceedings of the National Academy of Sciences of the United States of America , 2013 Nov. 19 : 110(47)19131-6
  • Siebert JR, Smith KJ, Cox LL, Glass IA, Cox TC
    Microtomographic analysis of lower urinary tract obstruction.
    Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society , 2013 Nov. : 16(6)405-14
  • Cox TC, Luquetti DV, Cunningham ML
    Perspectives and challenges in advancing research into craniofacial anomalies.
    American journal of medical genetics. Part C, Seminars in medical genetics , 2013 Nov. : 163C(4)213-7
  • Siebert JR, Smith KJ, Cox LL, Glass IA, Cox TC
    Microtomographic analysis of lower urinary tract obstruction.
    Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society , 2013 Nov. : 16(6)405-14
  • Evans KN, Gruss JS, Khanna PC, Cunningham ML, Cox TC, Hing AV
    Oculoauriculofrontonasal syndrome: case series revealing new bony nasal anomalies in an old syndrome.
    American journal of medical genetics. Part A , 2013 June : 161A(6)1345-53
  • Luquetti DV, Cox TC, Lopez-Camelo J, Dutra Mda G, Cunningham ML, Castilla EE
    Preferential associated anomalies in 818 cases of microtia in South America.
    American journal of medical genetics. Part A , 2013 May : 161A(5)1051-7
  • Brinkley JF, Mejino JL, Detwiler LT, Travillian RS, Clarkson M, Cox T, Heike C, Cunningham M, Hochheiser H, Shapiro LG
    Towards understanding craniofacial abnormalities: the ontology of craniofacial development and malformation.
    AMIA Joint Summits on Translational Science proceedings AMIA Summit on Translational Science , 2013 : 201320
  • Quina LA, Kuramoto T, Luquetti DV, Cox TC, Serikawa T, Turner EE
    Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformation.
    Disease models & mechanisms , 2012 Nov. : 5(6)812-22
  • Quina LA, Kuramoto T, Luquetti DV, Cox TC, Serikawa T, Turner EE
    Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformation.
    Disease models & mechanisms , 2012 Nov. : 5(6)812-22
  • Yamamura B, Cox TC, Heddaya B, Flake NM, Johnson JD, Paranjpe A
    Comparing canal transportation and centering ability of endosequence and vortex rotary files by using micro-computed tomography.
    Journal of endodontics , 2012 Aug. : 38(8)1121-5
  • Rieder MJ, Green GE, Park SS, Stamper BD, Gordon CT, Johnson JM, Cunniff CM, Smith JD, Emery SB, Lyonnet S, Amiel J, Holder M, Heggie AA, Bamshad MJ, Nickerson DA, Cox TC, Hing AV, Horst JA, Cunningham ML
    A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
    American journal of human genetics , 2012 May 4 : 90(5)907-14
  • Quina LA, Tempest L, Hsu YW, Cox TC, Turner EE
    Hmx1 is required for the normal development of somatosensory neurons in the geniculate ganglion.
    Developmental biology , 2012 May 1 : 365(1)152-63
  • Luquetti DV, Heike CL, Hing AV, Cunningham ML, Cox TC
    Microtia: Epidemiology and genetics.
    American journal of medical genetics. Part A , 2012 Jan. : 158A(1)124-39
  • Fairfield H, Gilbert GJ, Barter M, Corrigan RR, Curtain M, Ding Y, D'Ascenzo M, Gerhardt DJ, He C, Huang W, Richmond T, Rowe L, Probst FJ, Bergstrom DE, Murray SA, Bult C, Richardson J, Kile BT, Gut I, Hager J, Sigurdsson S, Mauceli E, Di Palma F, Lindblad-Toh K, Cunningham ML, Cox TC, Justice MJ, Spector MS, Lowe SW, Albert T, Donahue LR, Jeddeloh J, Shendure J, Reinholdt LG
    Mutation discovery in mice by whole exome sequencing.
    Genome biology , 2011 Sept. 14 : 12(9)R86
  • Vissers LE, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee F, Bertola D, Liu J, Yagnik G, Sekiguchi K, Kiyozumi D, van Bokhoven H, Marcelis C, Cunningham ML, Anderson PJ, Boyadjiev SA, Passos-Bueno MR, Veltman JA, Smyth I, Buckley MF, Roscioli T
    Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.
    PLoS genetics , 2011 Sept. : 7(9)e1002278
  • Purushothaman R, Cox TC, Muga AM, Cunningham ML
    Facial suture synostosis of newborn Fgfr1(P250R/+) and Fgfr2(S252W/+) mouse models of Pfeiffer and Apert syndromes.
    Birth defects research. Part A, Clinical and molecular teratology , 2011 July : 91(7)603-9
  • Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M
    Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
    Journal of medical genetics , 2011 June : 48(6)375-82
  • Wiseman A, Cox TC, Paranjpe A, Flake NM, Cohenca N, Johnson JD
    Efficacy of sonic and ultrasonic activation for removal of calcium hydroxide from mesial canals of mandibular molars: a microtomographic study.
    Journal of endodontics , 2011 Feb. : 37(2)235-8
  • Zovein AC, Turlo KA, Ponec RM, Lynch MR, Chen KC, Hofmann JJ, Cox TC, Gasson JC, Iruela-Arispe ML
    Vascular remodeling of the vitelline artery initiates extra-vascular emergence of hematopoietic clusters.
    Blood , 2010 Aug. 10
  • White R, Ho G, Schmidt S, Scheffer IE, Fischer A, Yendle SC, Bienvenu T, Nectoux J, Ellaway CJ, Darmanian A, Tong X, Cloosterman D, Bennetts B, Kalra V, Fullston T, Gecz J, Cox TC, Christodoulou J
    Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders.
    Twin research and human genetics : the official journal of the International Society for Twin Studies , 2010 Apr, : 168-78
  • Kaminen-Ahola N, Ahola A, Maga M, Mallitt KA, Fahey P, Cox TC, Whitelaw E, Chong S
    Maternal ethanol consumption alters the epigenotype and the phenotype of offspring in a mouse model.
    PLoS genetics , 2010 Jan. 15 : e1000811
  • Tao H, Liu W, Simmons BN, Harris HK, Cox TC, Massiah MA
    Purifying natively folded proteins from inclusion bodies using sarkosyl, Triton X-100, and CHAPS.
    BioTechniques , 2010 Jan. : 61-4
  • Drenckhahn JD, Schwarz QP, Gray S, Laskowski A, Kiriazis H, Ming Z, Harvey RP, Du XJ, Thorburn DR, Cox TC
    Compensatory growth of healthy cardiac cells in the presence of diseased cells restores tissue homeostasis during heart development.
    Developmental cell , 2008 Oct. : 521-33
  • Tao H, Simmons BN, Singireddy S, Jakkidi M, Short KM, Cox TC, Massiah MA
    Structure of the MID1 tandem B-boxes reveals an interaction reminiscent of intermolecular ring heterodimers.
    Biochemistry , 2008 Feb. 26 : 2450-7
  • Ashe A, Morgan DK, Whitelaw NC, Bruxner TJ, Vickaryous NK, Cox LL, Butterfield NC, Wicking C, Blewitt ME, Wilkins SJ, Anderson GJ, Cox TC, Whitelaw E
    A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development.
    Genome biology , 2008 : R182
  • Massiah MA, Matts JA, Short KM, Simmons BN, Singireddy S, Yi Z, Cox TC
    Solution structure of the MID1 B-box2 CHC(D/C)C(2)H(2) zinc-binding domain: insights into an evolutionarily conserved RING fold.
    Journal of molecular biology , 2007 May 25 : 1-10
  • Anderson PJ, Cox TC, Roscioli T, Elakis G, Smithers L, David DJ, Powell B
    Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis.
    The Journal of craniofacial surgery , 2007 Mar. : 312-4
  • Massiah MA, Simmons BN, Short KM, Cox TC
    Solution structure of the RBCC/TRIM B-box1 domain of human MID1: B-box with a RING.
    Journal of molecular biology , 2006 Apr, 28 : 532-45
  • McGaughran J, Sinnott S, Susman R, Buckley MF, Elakis G, Cox T, Roscioli T
    A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype.
    Clinical dysmorphology , 2006 Apr, : 89-93
  • Short KM, Cox TC
    Subclassification of the RBCC/TRIM superfamily reveals a novel motif necessary for microtubule binding.
    The Journal of biological chemistry , 2006 Mar. 31 : 8970-80
  • Washbourne BJ, Cox TC
    Expression profiles of cIRF6, cLHX6 and cLHX7 in the facial primordia suggest specific roles during primary palatogenesis.
    BMC developmental biology , 2006 Mar. 24 : 18
  • So J, Suckow V, Kijas Z, Kalscheuer V, Moser B, Winter J, Baars M, Firth H, Lunt P, Hamel B, Meinecke P, Moraine C, Odent S, Schinzel A, van der Smagt JJ, Devriendt K, Albrecht B, Gillessen-Kaesbach G, van der Burgt I, Petrij F, Faivre L, McGaughran J, McKenzie F, Opitz JM, Cox T, Schweiger S
    Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.
    American journal of medical genetics. Part A , 2005 Jan. 1 : 1-7
  • Cox TC, Sadlon TJ, Schwarz QP, Matthews CS, Wise PD, Cox LL, Bottomley SS, May BK
    The major splice variant of human 5-aminolevulinate synthase-2 contributes significantly to erythroid heme biosynthesis.
    The international journal of biochemistry & cell biology , 2004 Feb. : 281-95
  • Graham JM Jr, Wheeler P, Tackels-Horne D, Lin AE, Hall BD, May M, Short KM, Schwartz CE, Cox TC
    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. Part A , 2003 Nov. 15 : 37-44
  • Camp E, Hope R, Kortschak RD, Cox TC, Lardelli M
    Expression of three spalt (sal) gene homologues in zebrafish embryos.
    Development genes and evolution , 2003 Feb. : 35-43
  • Schwarz QP, Cox TC
    Complementation of a yeast CYC3 deficiency identifies an X-linked mammalian activator of apocytochrome c.
    Genomics , 2002 Jan. : 51-7

Research Funding

Grant Title Grantor Amount Award Date
Comprehensive Training in Inter-Disciplinary Oral Health Research NIH NIDCR 2012 - 2017
Genetic and Developmental Pathways Causing Midfacial Hypoplasia NIH NIDCR $2,278,095 2012 - 2017
Laboratory of Developmental Biology NIH NICHD $1,802,560 2011 - 2016