Ryan L Davis

Summary

Affiliation: University of Otago
Country: New Zealand

Publications

  1. ncbi Novel frameshift in the serum albumin gene results in analbuminemia through premature truncation and post translational modification
    Ryan L Davis
    Molecular Pathology Laboratory, Christchurch School of Medicine and Health Sciences, University of Otago, Christchurch, PO Box 4345, Christchurch, New Zealand
    Clin Biochem 41:1482-5. 2008
  2. ncbi A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment
    Ryan L Davis
    Molecular Pathology Laboratory, Department of Pathology, Christchurch School of Medicine and Health Sciences, University of Otago, Christchurch, New Zealand
    Hum Mutat 30:221-7. 2009
  3. ncbi Hypofibrinogenaemia associated with common gamma82Ala-->Gly mutation is not mediated by altered mRNA splicing
    Stephen O Brennan
    Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch, New Zealand
    Thromb Haemost 96:535-7. 2006
  4. ncbi Fibrinogen Tolaga Bay: a novel gammaAla341Val mutation causing hypofibrinogenaemia
    Ryan L Davis
    Christchurch School of Medicine and Health Sciences, University of Otago, Christchurch, New Zealand
    Thromb Haemost 98:1136-8. 2007
  5. ncbi Deletion of five residues from the coiled coil of fibrinogen (Bbeta Asn167_Glu171del) associated with bleeding and hypodysfibrinogenemia
    Stephen O Brennan
    Molecular Pathology Laboratory, Canterbury Health Laboratories, PO Box 151, Christchurch, New Zealand
    Haematologica 94:585-8. 2009
  6. ncbi Novel fibrinogen mutation ?314Thr?Pro (fibrinogen AI duPont) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia
    Stephen O Brennan
    Molecular Pathology Laboratory, Christchurch School of Medicine University of Otago, Christchurch, New Zealand
    Liver Int 30:1541-7. 2010
  7. ncbi Congenital hypodysfibrinogenaemia (Fibrinogen Des Moines) due to a gamma320Asp deletion at the Ca2+ binding site
    Stephen O Brennan
    Molecular Pathology Laboratory, Christchurch School of Medicine, Christchurch, New Zealand
    Thromb Haemost 98:467-9. 2007

Detail Information

Publications7

  1. ncbi Novel frameshift in the serum albumin gene results in analbuminemia through premature truncation and post translational modification
    Ryan L Davis
    Molecular Pathology Laboratory, Christchurch School of Medicine and Health Sciences, University of Otago, Christchurch, PO Box 4345, Christchurch, New Zealand
    Clin Biochem 41:1482-5. 2008
    ..To identify the molecular lesion in a patient with analbuminemia...
  2. ncbi A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment
    Ryan L Davis
    Molecular Pathology Laboratory, Department of Pathology, Christchurch School of Medicine and Health Sciences, University of Otago, Christchurch, New Zealand
    Hum Mutat 30:221-7. 2009
    ....
  3. ncbi Hypofibrinogenaemia associated with common gamma82Ala-->Gly mutation is not mediated by altered mRNA splicing
    Stephen O Brennan
    Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch, New Zealand
    Thromb Haemost 96:535-7. 2006
  4. ncbi Fibrinogen Tolaga Bay: a novel gammaAla341Val mutation causing hypofibrinogenaemia
    Ryan L Davis
    Christchurch School of Medicine and Health Sciences, University of Otago, Christchurch, New Zealand
    Thromb Haemost 98:1136-8. 2007
  5. ncbi Deletion of five residues from the coiled coil of fibrinogen (Bbeta Asn167_Glu171del) associated with bleeding and hypodysfibrinogenemia
    Stephen O Brennan
    Molecular Pathology Laboratory, Canterbury Health Laboratories, PO Box 151, Christchurch, New Zealand
    Haematologica 94:585-8. 2009
    ..Mechanistically the 15-nucleotide deletion appears to arise from replication advancement during DNA synthesis caused by a flanking pentanucleotide repeat of AATGA...
  6. ncbi Novel fibrinogen mutation ?314Thr?Pro (fibrinogen AI duPont) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia
    Stephen O Brennan
    Molecular Pathology Laboratory, Christchurch School of Medicine University of Otago, Christchurch, New Zealand
    Liver Int 30:1541-7. 2010
    ..We describe only the fourth mutation to be identified, ?314Thr?Pro (fibrinogen AI duPont), giving rise to hypofibrinogenaemia and hepatic fibrinogen storage disease...
  7. ncbi Congenital hypodysfibrinogenaemia (Fibrinogen Des Moines) due to a gamma320Asp deletion at the Ca2+ binding site
    Stephen O Brennan
    Molecular Pathology Laboratory, Christchurch School of Medicine, Christchurch, New Zealand
    Thromb Haemost 98:467-9. 2007