D J G Mackay

Summary

Affiliation: University of Southampton
Country: UK

Publications

  1. ncbi Transient neonatal diabetes mellitus type 1
    Deborah J G Mackay
    University of Southampton, UK
    Am J Med Genet C Semin Med Genet 154:335-42. 2010
  2. ncbi Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology
    Deborah J G Mackay
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, SP2 8BJ, UK
    Hum Genet 116:255-61. 2005
  3. ncbi Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
    Deborah J G Mackay
    Division of Human Genetics, University of Southampton, Southampton SO16 6YD, UK
    Nat Genet 40:949-51. 2008
  4. ncbi Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus
    D J G Mackay
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, SP2 8BJ Salisbury, UK
    Hum Genet 119:179-84. 2006
  5. ncbi A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus
    D J G Mackay
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, SP2 8BJ, UK
    Hum Genet 120:262-9. 2006
  6. ncbi Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus
    D J G Mackay
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK
    Hum Genet 110:139-44. 2002
  7. ncbi Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14
    I K Temple
    Division of Human Genetics, University of Southampton, Southampton, Hampshire, UK
    J Med Genet 44:637-40. 2007
  8. ncbi Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetes
    L E Docherty
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK
    Diabetologia 53:2347-51. 2010
  9. ncbi Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting
    Rebecca L Poole
    Division of Human Genetics, University of Southampton School of Medicine, Southampton SO16 6YD, UK
    Am J Med Genet A 152:1990-3. 2010
  10. ncbi Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects
    Sian Ellard
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, EX2 5DW, and Wessex Regional Genetics Labs, Salisbury District Hospital, UK
    Am J Hum Genet 81:375-82. 2007

Collaborators

Detail Information

Publications15

  1. ncbi Transient neonatal diabetes mellitus type 1
    Deborah J G Mackay
    University of Southampton, UK
    Am J Med Genet C Semin Med Genet 154:335-42. 2010
    ....
  2. ncbi Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology
    Deborah J G Mackay
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, SP2 8BJ, UK
    Hum Genet 116:255-61. 2005
    ..Whereas methylation mutation patients showed a near-total absence of DNA methylation at the TNDM locus, the patients with no identified molecular anomaly showed no marked methylation variation from controls...
  3. ncbi Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
    Deborah J G Mackay
    Division of Human Genetics, University of Southampton, Southampton SO16 6YD, UK
    Nat Genet 40:949-51. 2008
    ..This is the first description of a heritable global imprinting disorder that is compatible with life...
  4. ncbi Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus
    D J G Mackay
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, SP2 8BJ Salisbury, UK
    Hum Genet 119:179-84. 2006
    ..5. This shows that imprinting anomalies can affect more than one imprinted locus and may alter the clinical presentation of imprinted disease...
  5. ncbi A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus
    D J G Mackay
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, SP2 8BJ, UK
    Hum Genet 120:262-9. 2006
    ....
  6. ncbi Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus
    D J G Mackay
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK
    Hum Genet 110:139-44. 2002
    ....
  7. ncbi Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14
    I K Temple
    Division of Human Genetics, University of Southampton, Southampton, Hampshire, UK
    J Med Genet 44:637-40. 2007
    ..This case provides support for the hypothesis that the maternal UPD14 phenotype is due to aberrant gene expression within the imprinted domain at 14q32...
  8. ncbi Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetes
    L E Docherty
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK
    Diabetologia 53:2347-51. 2010
    ..Transient neonatal diabetes (TND) is associated with overexpression of genes within a critical region on 6q24. This study aims to refine the boundaries of this region to reduce the number of potential candidate genes for 6q24 TND...
  9. ncbi Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting
    Rebecca L Poole
    Division of Human Genetics, University of Southampton School of Medicine, Southampton SO16 6YD, UK
    Am J Med Genet A 152:1990-3. 2010
    ..This study demonstrates the potential utility of epigenetic investigation in routine diagnostic testing...
  10. ncbi Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects
    Sian Ellard
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, EX2 5DW, and Wessex Regional Genetics Labs, Salisbury District Hospital, UK
    Am J Hum Genet 81:375-82. 2007
    ..A novel mutational mechanism was observed in which a heterozygous activating mutation resulted in PNDM only when a second, loss-of-function mutation was also present...
  11. ncbi Assessment of the role of common genetic variation in the transient neonatal diabetes mellitus (TNDM) region in type 2 diabetes: a comparative genomic and tagging single nucleotide polymorphism approach
    Anna L Gloyn
    Diabetes Research Laboratories, Oxford Centre for Diabetes, Endocrinology and Metabolism, Oxford, UK
    Diabetes 55:2272-6. 2006
    ..Using a study sufficiently powered to detect odds ratios of <1.2, we conclude that common variation in the TNDM region does not play an important role in the genetic susceptibility to type 2 diabetes...
  12. ncbi Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24
    Tatjana Milenkovic
    Department of Endocrinology, Mother and Child Health Care Institute of Serbia, Radoja Dakica 8, 11070 Belgrade, Serbia
    J Pediatr Endocrinol Metab 19:1353-7. 2006
    ..Genetic testing revealed the presence of paternal uniparental disomy of chromosome 6 (UPD6) including heterodisomy of 6q24. This is the first documented case of uniparental heterodisomy for chromosome 6...
  13. ncbi Zellweger syndrome resulting from maternal isodisomy of chromosome 1
    Claire L S Turner
    Wessex Clinical Genetics Service, Southampton University Hospital NHS Trust, Princess Anne Hospital, Coxford Road, Southampton, UK
    Am J Med Genet A 143:2172-7. 2007
    ..Other reported cases of UPD1, and evidence for the imprinting of genes on chromosome 1, are reviewed. The molecular findings in this patient have important implications for molecular testing and genetic counseling in ZS...
  14. ncbi Relapsing diabetes can result from moderately activating mutations in KCNJ11
    Anna L Gloyn
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Barrack Road, Exeter EX2 5DW, USA
    Hum Mol Genet 14:925-34. 2005
    ..This suggests that a fixed ion channel abnormality can result in a fluctuating glycaemic phenotype. The multiple phenotypes associated with activating KCNJ11 mutations may reflect their severity in vitro...
  15. ncbi Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood
    Sarah E Flanagan
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Diabetes 56:1930-7. 2007
    ..Remitting neonatal diabetes was observed in two of three mutation carriers, and permanent diabetes occurred after 6 months of age in subjects without an initial diagnosis of neonatal diabetes...