Mark I Rees

Summary

Affiliation: University of Auckland
Country: New Zealand

Publications

  1. ncbi request reprint Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3)
    M I Rees
    Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, UK
    Hum Genet 106:206-9. 2000
  2. ncbi request reprint Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia
    M I Rees
    Department of Molecular Medicine, University of Auckland Medical School, Postbag 92019, Auckland, New Zealand
    Hum Genet 109:267-70. 2001
  3. ncbi request reprint Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia
    Mark I Rees
    Department of Molecular Medicine, Faculty of Medical and Health Sciences, University of Auckland, Private Bag 92019, New Zealand
    J Biol Chem 278:24688-96. 2003
  4. ncbi request reprint TBP, a polyglutamine tract containing protein, accumulates in Alzheimer's disease
    Suzanne J Reid
    Department of Pharmacology, Medical Health Sciences Campus, University of Auckland, New Zealand
    Brain Res Mol Brain Res 125:120-8. 2004
  5. doi request reprint Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome
    Carey Anne Eddy
    Cardiac Inherited Diseases Group CIDG, Auckland City Hospital Starship Children s Hospital, Auckland, New Zealand
    Heart Rhythm 5:1275-81. 2008
  6. doi request reprint Elevated serum gastrin levels in Jervell and Lange-Nielsen syndrome: a marker of severe KCNQ1 dysfunction?
    Kathryn S Rice
    Green Lane Paediatric and Congenital Cardiac Services, Starship Children s Hospital, Auckland, New Zealand
    Heart Rhythm 8:551-4. 2011
  7. doi request reprint Misdiagnosis of long QT syndrome as epilepsy at first presentation
    Judith M MacCormick
    Green Lane Paediatric and Congenital Cardiac Service, Starship Children s Hospital, Auckland, New Zealand
    Ann Emerg Med 54:26-32. 2009
  8. doi request reprint Symptoms and signs associated with syncope in young people with primary cardiac arrhythmias
    Judith M MacCormick
    Green Lane Paediatric and Congenital Cardiac Service, Auckland City Starship Children s Hospital, Auckland, New Zealand
    Heart Lung Circ 20:593-8. 2011
  9. ncbi request reprint Glycine receptors in the striatum, globus pallidus, and substantia nigra of the human brain: an immunohistochemical study
    Henry J Waldvogel
    Department of Anatomy with Radiology, Faculty of Medical and Health Science, University of Auckland, Auckland 1148, New Zealand
    J Comp Neurol 502:1012-29. 2007
  10. ncbi request reprint Coinheritance of long QT syndrome and Kearns-Sayre syndrome
    Jonathan R Skinner
    Green Lane Paediatric and Congenital Cardiac Services, Starship Hospital, Auckland, New Zealand
    Heart Rhythm 4:1568-72. 2007

Collaborators

Detail Information

Publications19

  1. ncbi request reprint Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3)
    M I Rees
    Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, UK
    Hum Genet 106:206-9. 2000
    ..This family represents a second report of CZP3 linkage to 13q and is associated with a novel mutation in the connexin 46 (GJA3) gene...
  2. ncbi request reprint Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia
    M I Rees
    Department of Molecular Medicine, University of Auckland Medical School, Postbag 92019, Auckland, New Zealand
    Hum Genet 109:267-70. 2001
    ....
  3. ncbi request reprint Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia
    Mark I Rees
    Department of Molecular Medicine, Faculty of Medical and Health Sciences, University of Auckland, Private Bag 92019, New Zealand
    J Biol Chem 278:24688-96. 2003
    ..Therefore, the N10Y mutation and alternative splicing of GPHN transcripts do not affect interactions with GlyRs but may affect other interactions with the cytoskeleton or gephyrin accessory proteins...
  4. ncbi request reprint TBP, a polyglutamine tract containing protein, accumulates in Alzheimer's disease
    Suzanne J Reid
    Department of Pharmacology, Medical Health Sciences Campus, University of Auckland, New Zealand
    Brain Res Mol Brain Res 125:120-8. 2004
    ..We present this as evidence for the hypothesis that the accumulation or misfolding of this polyQ containing protein may be a contributing factor in Alzheimer's disease...
  5. doi request reprint Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome
    Carey Anne Eddy
    Cardiac Inherited Diseases Group CIDG, Auckland City Hospital Starship Children s Hospital, Auckland, New Zealand
    Heart Rhythm 5:1275-81. 2008
    ..Large gene deletions and duplications can be missed with these methodologies...
  6. doi request reprint Elevated serum gastrin levels in Jervell and Lange-Nielsen syndrome: a marker of severe KCNQ1 dysfunction?
    Kathryn S Rice
    Green Lane Paediatric and Congenital Cardiac Services, Starship Children s Hospital, Auckland, New Zealand
    Heart Rhythm 8:551-4. 2011
    ..It is not known whether gastric acid production is disordered in patients with long QT type 1. Serum gastrin levels become elevated in subjects with disordered gastric acid production...
  7. doi request reprint Misdiagnosis of long QT syndrome as epilepsy at first presentation
    Judith M MacCormick
    Green Lane Paediatric and Congenital Cardiac Service, Starship Children s Hospital, Auckland, New Zealand
    Ann Emerg Med 54:26-32. 2009
    ..We aim to evaluate a series of patients with genetically confirmed long QT syndrome to establish the frequency of delayed recognition. We also examine causes and potential consequences of diagnostic delay...
  8. doi request reprint Symptoms and signs associated with syncope in young people with primary cardiac arrhythmias
    Judith M MacCormick
    Green Lane Paediatric and Congenital Cardiac Service, Auckland City Starship Children s Hospital, Auckland, New Zealand
    Heart Lung Circ 20:593-8. 2011
    ..Studies in the young are rare. This study was designed to capture the symptoms and signs reported by patients with cardiac syncope before the patients or their attending clinicians knew the final diagnosis...
  9. ncbi request reprint Glycine receptors in the striatum, globus pallidus, and substantia nigra of the human brain: an immunohistochemical study
    Henry J Waldvogel
    Department of Anatomy with Radiology, Faculty of Medical and Health Science, University of Auckland, Auckland 1148, New Zealand
    J Comp Neurol 502:1012-29. 2007
    ....
  10. ncbi request reprint Coinheritance of long QT syndrome and Kearns-Sayre syndrome
    Jonathan R Skinner
    Green Lane Paediatric and Congenital Cardiac Services, Starship Hospital, Auckland, New Zealand
    Heart Rhythm 4:1568-72. 2007
  11. ncbi request reprint Long QT and Brugada syndrome gene mutations in New Zealand
    Seo Kyung Chung
    Department of Molecular Medicine and Pathology, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand
    Heart Rhythm 4:1306-14. 2007
    ..Genetic testing in long QT syndrome (LQTS) is moving from research into clinical practice. We have recently piloted a molecular genetics program in a New Zealand research laboratory with a view to establishing a clinical diagnostic service...
  12. pmc An ovine transgenic Huntington's disease model
    Jessie C Jacobsen
    Department of Molecular Medicine and Pathology, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand
    Hum Mol Genet 19:1873-82. 2010
    ..New sequence accession number for ovine HTT mRNA: FJ457100...
  13. ncbi request reprint Immunohistochemical staining of post-mortem adult human brain sections
    Henry J Waldvogel
    Department of Anatomy with Radiology, Faculty of Medical and Health Science, University of Auckland, Private Bag 92019, Auckland, New Zealand
    Nat Protoc 1:2719-32. 2006
    ..The results gained using this tissue and protocol are vital for determining the localization of neurochemicals throughout the human brain and to document the changes that occur in neurological diseases...
  14. ncbi request reprint Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB)
    Mark I Rees
    Department of Psychological Medicine and Department of Medical Genetics, University of Wales College of Medicine, Cardiff CF14 4XN, UK
    Hum Mol Genet 11:853-60. 2002
    ....
  15. ncbi request reprint Molecular investigation of TBP allele length: a SCA17 cellular model and population study
    Suzanne J Reid
    Department of Molecular Medicine, University of Auckland, Private Bag 92019, Auckland, New Zealand
    Neurobiol Dis 13:37-45. 2003
    ..Importantly, overexpression of expanded TBP results in increased Cre-dependent transcriptional activity. As TBP is required for transcription by all RNA polymerases, this may indicate a mechanism for aberrant polyQ gain of function...
  16. ncbi request reprint The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering
    Kirsten Harvey
    Department of Pharmacology, The School of Pharmacy, London WC1N 1AX, United Kingdom
    J Neurosci 24:5816-26. 2004
    ..The clinical manifestation of this collybistin missense mutation may result, at least in part, from mislocalization of gephyrin and a major GABA(A) receptor subtype...
  17. pmc PICK1 interacts with alpha7 neuronal nicotinic acetylcholine receptors and controls their clustering
    Kristin Baer
    Department of Neurochemistry, Brain Research Institute, University of Zurich, Winterthurerstrasse 190, CH 8057 Zurich, Switzerland
    Mol Cell Neurosci 35:339-55. 2007
    ..These data show that PICK1 negatively regulates surface clustering of alpha7 nAChRs on hippocampal interneurons, which may be important in inhibitory functions of alpha7 in the hippocampus...
  18. pmc Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease
    Mark I Rees
    School of Medicine, University of Wales Swansea, Singleton Park, West Glamorgan SA2 8PP, UK
    Nat Genet 38:801-6. 2006
    ..SLC6A5 mutations result in defective subcellular GlyT2 localization, decreased glycine uptake or both, with selected mutations affecting predicted glycine and Na+ binding sites...
  19. ncbi request reprint Sox-2 is expressed by glial and progenitor cells and Pax-6 is expressed by neuroblasts in the human subventricular zone
    Kristin Baer
    Molecular Neuroscience, School of Medicine, University of Wales Swansea, Singleton Park, West Glamorgan SA2 8PP, UK
    Exp Neurol 204:828-31. 2007
    ..Thus, our data surprisingly reveal that these TFs are differentially expressed in the adult human SVZ where Sox-2 and Pax-6 specify a glial and neuronal fate, respectively...