M Town

Summary

Affiliation: King's College
Country: UK

Publications

  1. ncbi A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
    M Town
    Division of Medical and Molecular Genetics, United Medical and Dental Schools, Guy s Hospital, London, UK
    Nat Genet 18:319-24. 1998
  2. ncbi Molecular heterogeneity underlying the G6PD Mediterranean phenotype
    C M Corcoran
    Department of Haematology, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK
    Hum Genet 88:688-90. 1992
  3. ncbi New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia
    P J Mason
    Department of Haematology, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK
    Blood 85:1377-80. 1995
  4. ncbi Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation
    J McGowan-Jordan
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Canada
    Eur J Hum Genet 7:671-8. 1999
  5. ncbi Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin
    M Attard
    Nephrourology Unit, Institute of Child Health, University College London Medical School, 30 Guilford Street, London WC1N 1EH, UK
    Hum Mol Genet 8:2507-14. 1999
  6. ncbi Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia
    T J Vulliamy
    Department of Haematology, Royal Postgraduate Medical School, London, Great Britain
    Proc Natl Acad Sci U S A 85:5171-5. 1988
  7. ncbi Multiple glucose 6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (southwestern Pacific)
    M Ganczakowski
    Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom
    Am J Hum Genet 56:294-301. 1995

Collaborators

  • S A Whitmore
  • T J Vulliamy
  • J McGowan-Jordan
  • M Attard
  • P J Mason
  • M Ganczakowski
  • P Goodyer
  • K Stoddard
  • A Mackenzie
  • G Jean
  • H Heick
  • M Broyer
  • L Podolsky
  • S Cherqui
  • C M Corcoran
  • E Orrbine
  • L Forestier
  • W Van't Hoff
  • C Antignac
  • P McLaine
  • L Luzzatto
  • A Kaneko
  • D Busutil
  • J B Clegg
  • D K Bowden
  • C Lanza
  • D J Weatherall
  • S al-Ismail
  • J S Kaeda
  • D MacDonald
  • M F Sonati
  • D J Stevens
  • G Tamagnini
  • B Haidar
  • V Calabro

Detail Information

Publications7

  1. ncbi A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
    M Town
    Division of Medical and Molecular Genetics, United Medical and Dental Schools, Guy s Hospital, London, UK
    Nat Genet 18:319-24. 1998
    ..CTNS encodes an integral membrane protein, cystinosin, with features of a lysosomal membrane protein. Eleven different mutations, all predicted to cause loss of function of the protein, were found to segregate with the disorder...
  2. ncbi Molecular heterogeneity underlying the G6PD Mediterranean phenotype
    C M Corcoran
    Department of Haematology, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK
    Hum Genet 88:688-90. 1992
    ..We name this new variant G6PD Coimbra...
  3. ncbi New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia
    P J Mason
    Department of Haematology, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK
    Blood 85:1377-80. 1995
    ..Some, but not all, of the mutations involve amino acids located near putative substrate binding sites...
  4. ncbi Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation
    J McGowan-Jordan
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Canada
    Eur J Hum Genet 7:671-8. 1999
    ..Our analysis underlines the genetic heterogeneity of the French Canadian population, reflecting a frequently unrecognized contribution from non-Gallic sources including the Irish...
  5. ncbi Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin
    M Attard
    Nephrourology Unit, Institute of Child Health, University College London Medical School, 30 Guilford Street, London WC1N 1EH, UK
    Hum Mol Genet 8:2507-14. 1999
    ..This suggests that the missense mutations found in these individuals allow production of functional protein and may also indicate regions of cystinosin which are not functionally important...
  6. ncbi Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia
    T J Vulliamy
    Department of Haematology, Royal Postgraduate Medical School, London, Great Britain
    Proc Natl Acad Sci U S A 85:5171-5. 1988
    ..The mutations observed show a striking predominance of C----T transitions, with CG doublets involved in four of seven cases. Thus, diverse point mutations may account largely for the phenotypic heterogeneity of G6PD deficiency...
  7. ncbi Multiple glucose 6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (southwestern Pacific)
    M Ganczakowski
    Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom
    Am J Hum Genet 56:294-301. 1995
    ..G6PD deficiency is of clinical importance in Vanuatu because it is a cause of neonatal jaundice and is responsible for numerous episodes of drug-induced acute hemolytic anemia...