J A Ellis

Summary

Affiliation: University of Cambridge
Country: UK

Publications

  1. ncbi Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype
    J A Ellis
    Department of Pathology, University of Cambridge, Cambridge CB2 2QQ, UK
    J Cell Sci 111:781-92. 1998
  2. ncbi Two distal mutations in the gene encoding emerin have profoundly different effects on emerin protein expression
    J A Ellis
    Department of Medical Genetics, Cambridge Institute of Medical Research, Addenbrooke s Hospital, UK
    Neuromuscul Disord 10:24-30. 2000
  3. ncbi Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy
    J A Ellis
    Department of Medical Genetics, University of Cambridge, Cambridge Institute for Medical Research, Addenbrooke s Hospital, UK
    Hum Genet 104:262-8. 1999
  4. ncbi Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype
    J R Yates
    Department of Medical Genetics, Cambridge University, Addenbrooke s Hospital, UK
    Neuromuscul Disord 9:159-65. 1999
  5. ncbi Nesprins: a novel family of spectrin-repeat-containing proteins that localize to the nuclear membrane in multiple tissues
    Q Zhang
    Department of Medicine, Division of Cardiovascular Medicine, University of Cambridge, Box 110, Addenbrooke s Hospital, Hills Road, Cambridge, CB2 2QQ, UK
    J Cell Sci 114:4485-98. 2001
  6. ncbi Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells
    C Grayson
    Department of Medical Genetics, The Wellcome Trust Centre for Molecular Mechanisms in Disease, Cambridge Institute for Medical Research, University of Cambridge, Addenbrookes Hospital, Hills Road, Cambridge CB2 2QQ, UK
    Hum Mol Genet 9:1873-9. 2000
  7. ncbi Identification and characterization of a novel protein (p137) which transcytoses bidirectionally in Caco-2 cells
    J A Ellis
    Department of Clinical Biochemistry, University of Cambridge, Addenbrooke s Hospital, United Kingdom
    J Biol Chem 270:20717-23. 1995
  8. ncbi Emery-Dreifuss muscular dystrophy at the nuclear envelope: 10 years on
    J A Ellis
    The Randall Division of Cell and Molecular Biophysics, King s College, New Hunts House, Guy s Campus, London, UK
    Cell Mol Life Sci 63:2702-9. 2006
  9. ncbi Polymorphism of the androgen receptor gene is associated with male pattern baldness
    J A Ellis
    Department of Physiology, The University of Melbourne, Victoria, Australia
    J Invest Dermatol 116:452-5. 2001
  10. ncbi Male pattern baldness is not associated with established cardiovascular risk factors in the general population
    J A Ellis
    Department of Physiology, The University of Melbourne, Victoria 3010, Australia
    Clin Sci (Lond) 100:401-4. 2001

Detail Information

Publications13

  1. ncbi Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype
    J A Ellis
    Department of Pathology, University of Cambridge, Cambridge CB2 2QQ, UK
    J Cell Sci 111:781-92. 1998
    ..This data suggests that for emerin to function normally it must be correctly localized, retained at the nuclear membrane and phosphorylated by cell cycle-mediated events...
  2. ncbi Two distal mutations in the gene encoding emerin have profoundly different effects on emerin protein expression
    J A Ellis
    Department of Medical Genetics, Cambridge Institute of Medical Research, Addenbrooke s Hospital, UK
    Neuromuscul Disord 10:24-30. 2000
    ....
  3. ncbi Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy
    J A Ellis
    Department of Medical Genetics, University of Cambridge, Cambridge Institute for Medical Research, Addenbrooke s Hospital, UK
    Hum Genet 104:262-8. 1999
    ..This is the first report of protein studies on patients with missense mutations resulting in the clinical features of EDMD. These studies demonstrate the importance of proline 183 for the proper structure/function of emerin...
  4. ncbi Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype
    J R Yates
    Department of Medical Genetics, Cambridge University, Addenbrooke s Hospital, UK
    Neuromuscul Disord 9:159-65. 1999
    ..Age at onset was later for first symptoms and for development of ankle contractures and muscle weakness. These findings have diagnostic implications as well as pointing to functionally important regions of the emerin protein...
  5. ncbi Nesprins: a novel family of spectrin-repeat-containing proteins that localize to the nuclear membrane in multiple tissues
    Q Zhang
    Department of Medicine, Division of Cardiovascular Medicine, University of Cambridge, Box 110, Addenbrooke s Hospital, Hills Road, Cambridge, CB2 2QQ, UK
    J Cell Sci 114:4485-98. 2001
    ..These data and structural analogies with other proteins suggest that nesprins may function as 'dystrophins of the nucleus' to maintain nuclear organization and structural integrity...
  6. ncbi Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells
    C Grayson
    Department of Medical Genetics, The Wellcome Trust Centre for Molecular Mechanisms in Disease, Cambridge Institute for Medical Research, University of Cambridge, Addenbrookes Hospital, Hills Road, Cambridge CB2 2QQ, UK
    Hum Mol Genet 9:1873-9. 2000
    ..Thus, X-linked retinoschisis is caused by abnormalities in a putative secreted photoreceptor protein and is the first example of a secreted photo-receptor protein associated with a retinal dystrophy...
  7. ncbi Identification and characterization of a novel protein (p137) which transcytoses bidirectionally in Caco-2 cells
    J A Ellis
    Department of Clinical Biochemistry, University of Cambridge, Addenbrooke s Hospital, United Kingdom
    J Biol Chem 270:20717-23. 1995
    ....
  8. ncbi Emery-Dreifuss muscular dystrophy at the nuclear envelope: 10 years on
    J A Ellis
    The Randall Division of Cell and Molecular Biophysics, King s College, New Hunts House, Guy s Campus, London, UK
    Cell Mol Life Sci 63:2702-9. 2006
    ....
  9. ncbi Polymorphism of the androgen receptor gene is associated with male pattern baldness
    J A Ellis
    Department of Physiology, The University of Melbourne, Victoria, Australia
    J Invest Dermatol 116:452-5. 2001
    ..Functional mutation in or near the androgen receptor gene may explain the reported high levels of expression of this gene in the balding scalp...
  10. ncbi Male pattern baldness is not associated with established cardiovascular risk factors in the general population
    J A Ellis
    Department of Physiology, The University of Melbourne, Victoria 3010, Australia
    Clin Sci (Lond) 100:401-4. 2001
    ..The lack of association between baldness and established coronary risk factors implies that baldness may predispose to coronary heart disease through novel mechanisms yet to be defined...
  11. ncbi Significant population variation in adult male height associated with the Y chromosome and the aromatase gene
    J A Ellis
    Department of Physiology, The University of Melbourne, Victoria 3010, Australia
    J Clin Endocrinol Metab 86:4147-50. 2001
    ..67-7.3) was detected (P = 0.004). These results suggest that in men, genetic variation in CYP19 and on the Y chromosome are involved in determining normal adult height, and that these loci may interact in an additive fashion...
  12. ncbi The gene encoding the GPI-anchored membrane protein p137GPI (M11S1) maps to human chromosome 11p13 and is highly conserved in the mouse
    M Gessler
    Physiologische Chemie I, , Germany
    Genomics 32:169-70. 1996
  13. ncbi Sex, genes and blood pressure
    J A Ellis
    Department of Physiology, The University of Melbourne, Victoria, Australia
    Clin Exp Pharmacol Physiol 28:1053-5. 2001
    ..Further genetic and physiological analyses will be required to confirm these observations and to determine the mechanisms of action and the nature of any interactions...