T C Cox

Summary

Affiliation: University of Adelaide
Country: Australia

Publications

  1. pmc MID1 and MID2 homo- and heterodimerise 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
    Kieran M Short
    Department of Molecular Biosciences and ARC Special Research Centre for the Molecular Genetics of Development, University of Adelaide, Adelaide, South Australia, Australia 5005
    BMC Cell Biol 3:1. 2002
  2. ncbi request reprint The major splice variant of human 5-aminolevulinate synthase-2 contributes significantly to erythroid heme biosynthesis
    Timothy C Cox
    School of Molecular and Biomedical Science, University of Adelaide, SA 5005, Adelaide, Australia
    Int J Biochem Cell Biol 36:281-95. 2004
  3. ncbi request reprint Taking it to the max: the genetic and developmental mechanisms coordinating midfacial morphogenesis and dysmorphology
    T C Cox
    School of Molecular and Biomedical Science, University of Adelaide, Adelaide, South Australia 5005, Australia
    Clin Genet 65:163-76. 2004
  4. ncbi request reprint New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome
    T C Cox
    Department of Molecular Biosciences and ARC Special Research Centre for the Molecular Genetics of Development, Adelaide University, North Terrace, Adelaide, South Australia, Australia 5005
    Hum Mol Genet 9:2553-62. 2000
  5. ncbi request reprint X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase
    T C Cox
    Department of Biochemistry, University of Adelaide, Australia
    N Engl J Med 330:675-9. 1994
  6. ncbi request reprint Identification and characterization of a conserved erythroid-specific enhancer located in intron 8 of the human 5-aminolevulinate synthase 2 gene
    K H Surinya
    Department of Biochemistry, University of Adelaide, Adelaide, South Australia, Australia 5005
    J Biol Chem 273:16798-809. 1998
  7. ncbi request reprint Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda
    J Gecz
    Centre for Medical Genetics, Women s and Children s Hospital, Adelaide, South Australia, 5006, Australia
    Genomics 69:242-51. 2000
  8. ncbi request reprint Molecular regulation of 5-aminolevulinate synthase. Diseases related to heme biosynthesis
    B K May
    Department of Biochemistry, University of Adelaide, Australia
    Mol Biol Med 7:405-21. 1990
  9. ncbi request reprint Do Craniosynostosis syndrome phenotypes with both FGFR2 and TWIST mutations have a worse clinical outcome?
    P J Anderson
    Australian Craniofacial Unit, Women s and Children s Hospital, Adelaide, Australia
    J Craniofac Surg 17:166-72. 2006
  10. ncbi request reprint Multidisciplinary management of Opitz G BBB syndrome
    S Y Parashar
    Australian Craniofacial Unit, North Adelaide, South Australia, Australia
    Ann Plast Surg 55:402-7. 2005

Collaborators

Detail Information

Publications14

  1. pmc MID1 and MID2 homo- and heterodimerise 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
    Kieran M Short
    Department of Molecular Biosciences and ARC Special Research Centre for the Molecular Genetics of Development, University of Adelaide, Adelaide, South Australia, Australia 5005
    BMC Cell Biol 3:1. 2002
    ..A protein highly related to MID1, called MID2, has also been described that similarly associates with microtubules...
  2. ncbi request reprint The major splice variant of human 5-aminolevulinate synthase-2 contributes significantly to erythroid heme biosynthesis
    Timothy C Cox
    School of Molecular and Biomedical Science, University of Adelaide, SA 5005, Adelaide, Australia
    Int J Biochem Cell Biol 36:281-95. 2004
    ..We conclude that the major splice isoform of ALAS2 is functional in vivo and could significantly contribute to erythroid heme biosynthesis and hemoglobin formation...
  3. ncbi request reprint Taking it to the max: the genetic and developmental mechanisms coordinating midfacial morphogenesis and dysmorphology
    T C Cox
    School of Molecular and Biomedical Science, University of Adelaide, Adelaide, South Australia 5005, Australia
    Clin Genet 65:163-76. 2004
    ..New candidates for human CLP genes are also proposed...
  4. ncbi request reprint New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome
    T C Cox
    Department of Molecular Biosciences and ARC Special Research Centre for the Molecular Genetics of Development, Adelaide University, North Terrace, Adelaide, South Australia, Australia 5005
    Hum Mol Genet 9:2553-62. 2000
    ..These new data and the finding of linkage to MID1 in the absence of a demonstrable open reading frame mutation in a further family support the conclusion that X-linked OS results from loss of function of MID1...
  5. ncbi request reprint X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase
    T C Cox
    Department of Biochemistry, University of Adelaide, Australia
    N Engl J Med 330:675-9. 1994
    ..The recently identified gene for an erythroid-specific 5-aminolevulinate synthase isoenzyme and its localization to the X chromosome make it likely that one or more defects in this gene underlie the anemia...
  6. ncbi request reprint Identification and characterization of a conserved erythroid-specific enhancer located in intron 8 of the human 5-aminolevulinate synthase 2 gene
    K H Surinya
    Department of Biochemistry, University of Adelaide, Adelaide, South Australia, Australia 5005
    J Biol Chem 273:16798-809. 1998
    ....
  7. ncbi request reprint Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda
    J Gecz
    Centre for Medical Genetics, Women s and Children s Hospital, Adelaide, South Australia, 5006, Australia
    Genomics 69:242-51. 2000
    ..Based on these experiments we suggest that the COOH end of the SEDL protein might be responsible for proper targeting of SEDL along the ER-Golgi membrane compartments (including Golgi and ERGIC/VTC)...
  8. ncbi request reprint Molecular regulation of 5-aminolevulinate synthase. Diseases related to heme biosynthesis
    B K May
    Department of Biochemistry, University of Adelaide, Australia
    Mol Biol Med 7:405-21. 1990
    ..The human erythroid ALAS gene is located on the X-chromosome, suggesting that a defect in this gene may be responsible for X-linked sideroblastic anemias...
  9. ncbi request reprint Do Craniosynostosis syndrome phenotypes with both FGFR2 and TWIST mutations have a worse clinical outcome?
    P J Anderson
    Australian Craniofacial Unit, Women s and Children s Hospital, Adelaide, Australia
    J Craniofac Surg 17:166-72. 2006
    ..We present three cases with both FGFR2 mutations and novel TWIST sequence variants. The clinical outcome in this cohort is compared with that in individuals with a single mutation...
  10. ncbi request reprint Multidisciplinary management of Opitz G BBB syndrome
    S Y Parashar
    Australian Craniofacial Unit, North Adelaide, South Australia, Australia
    Ann Plast Surg 55:402-7. 2005
    ..In conclusion, we recommend that patients with Opitz G BBB syndrome require careful evaluation, and management of the anomalies should be in a coordinated manner by a multidisciplinary team...
  11. pmc Human erythroid 5-aminolevulinate synthase: promoter analysis and identification of an iron-responsive element in the mRNA
    T C Cox
    Department of Biochemistry, University of Adelaide, Australia
    EMBO J 10:1891-902. 1991
    ..These results suggest that the IRE motif in the ALAS mRNA is functional and imply that translation of the mRNA is controlled by cellular iron availability during erythropoiesis...
  12. pmc Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain
    G McGillivray
    J Med Genet 42:656-62. 2005
  13. ncbi request reprint FXY2/MID2, a gene related to the X-linked Opitz syndrome gene FXY/MID1, maps to Xq22 and encodes a FNIII domain-containing protein that associates with microtubules
    J Perry
    Section of Gene Function and Regulation, Chester Beatty Laboratories, The Institute of Cancer Research, Fulham Road, London, SW3 6JB, United Kingdom
    Genomics 62:385-94. 1999
    ..The FXY/MID1 protein has previously been shown to colocalize with microtubules, and here we show that the FXY2 protein similarly associates with microtubules in a manner that is dependent on the carboxy-terminal B30.2 domain...
  14. ncbi request reprint Cloning and characterization of a functional P2X receptor from larval bullfrog skin
    P J Jensik
    Department of Physiology, Southern Illinois University School of Medicine, Carbondale, Illinois 62901, USA
    Am J Physiol Cell Physiol 281:C954-62. 2001
    ..Because the clone is not found in adult skin, it may have some exclusive role in the tadpole such as sensory reception by the skin or triggering apoptosis at metamorphosis...