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Timothy Cox, PhD

Timothy Cox, PhD

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

Research Center: Center for Tissue and Cell Sciences

"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."

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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.

Research Focus Area

Translational Research, Craniofacial

Publications

Vascular remodeling of the vitelline artery initiates extra-vascular emergence of hematopoietic clusters.
Blood , 2010 Aug 10
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
Maternal ethanol consumption alters the epigenotype and the phenotype of offspring in a mouse model.
PLoS genetics , 2010 Jan 15: e1000811
Purifying natively folded proteins from inclusion bodies using sarkosyl, Triton X-100, and CHAPS.
BioTechniques , 2010 Jan: 61-4
Compensatory growth of healthy cardiac cells in the presence of diseased cells restores tissue homeostasis during heart development.
Developmental cell , 2008 Oct: 521-33
Structure of the MID1 tandem B-boxes reveals an interaction reminiscent of intermolecular ring heterodimers.
Biochemistry , 2008 Feb 26: 2450-7
A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development.
Genome biology , 2008: R182
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
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
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
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
Subclassification of the RBCC/TRIM superfamily reveals a novel motif necessary for microtubule binding.
The Journal of biological chemistry , 2006 Mar 31: 8970-80
Expression profiles of cIRF6, cLHX6 and cLHX7 in the facial primordia suggest specific roles during primary palatogenesis.
BMC developmental biology , 2006 Mar 24: 18
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
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
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
Expression of three spalt (sal) gene homologues in zebrafish embryos.
Development genes and evolution , 2003 Feb: 35-43
Complementation of a yeast CYC3 deficiency identifies an X-linked mammalian activator of apocytochrome c.
Genomics , 2002 Jan: 51-7

Research Funding

Grant TitleGrantorAmountAward Date
The role of nectins in fusion of the midface and genesis of cleft lip and palateNational Institute of Dental & Craniofacial Research $1,000,000.00Dec. 1, 2008

Primary Office

Seattle Children's Research Institute
C9S-5
1900 - 9th Ave Bldg 1
Seattle, WA 98101

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