Genomes and Genes
Mark I Rees
Affiliation: University of Auckland
Country: New Zealand
- 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...
- Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexiaM I Rees
Department of Molecular Medicine, University of Auckland Medical School, Postbag 92019, Auckland, New Zealand
Hum Genet 109:267-70. 2001....
- Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexiaMark 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...
- TBP, a polyglutamine tract containing protein, accumulates in Alzheimer's diseaseSuzanne 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...
- Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndromeCarey 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...
- 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...
- Misdiagnosis of long QT syndrome as epilepsy at first presentationJudith 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...
- Symptoms and signs associated with syncope in young people with primary cardiac arrhythmiasJudith 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...
- Glycine receptors in the striatum, globus pallidus, and substantia nigra of the human brain: an immunohistochemical studyHenry 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....
- Long QT and Brugada syndrome gene mutations in New ZealandSeo 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...
- Coinheritance of long QT syndrome and Kearns-Sayre syndromeJonathan R Skinner
Green Lane Paediatric and Congenital Cardiac Services, Starship Hospital, Auckland, New Zealand
Heart Rhythm 4:1568-72. 2007
- An ovine transgenic Huntington's disease modelJessie 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...
- Immunohistochemical staining of post-mortem adult human brain sectionsHenry 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...
- 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....
- A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypesAnn J Johnston
Wales Epilepsy Research Network, Institute of Life Sciences, College of Medicine, Swansea University, Singleton Park, Swansea SA2 8PP, UK Neurology and Molecular Neuroscience Research Group, Institute of Life Sciences, College of Medicine, Swansea University, Singleton 8PP, UK Department of Neurology, University Hospital of Wales, Heath Park, Cardiff CF14 4X, UK
Neurobiol Dis 64:131-41. 2014..A novel GABRG2(p.R136*) mutation extends the spectrum of GABRG2 mutations identified in GEFS+ and GGE phenotypes, causes GABAA receptor dysfunction, and represents a putative epilepsy mechanism. ..
- Molecular investigation of TBP allele length: a SCA17 cellular model and population studySuzanne 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...
- The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clusteringKirsten 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...
- PICK1 interacts with alpha7 neuronal nicotinic acetylcholine receptors and controls their clusteringKristin 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...
- Sox-2 is expressed by glial and progenitor cells and Pax-6 is expressed by neuroblasts in the human subventricular zoneKristin 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...
- Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle diseaseMark 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...