Melanie J Percy

Summary

Affiliation: Northern Ireland

Publications

  1. pmc Familial erythrocytosis arising from a gain-of-function mutation in the HIF2A gene of the oxygen sensing pathway
    Melanie J Percy
    Department of Haematology, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, UK
    Ulster Med J 77:86-8. 2008
  2. pmc A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis
    Melanie J Percy
    Department of Haematology, Belfast City Hospital, Belfast BT9 7AB, Northern Ireland, United Kingdom
    Proc Natl Acad Sci U S A 103:654-9. 2006
  3. pmc Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis
    Melanie J Percy
    Department of Haematology, Belfast City Hospital, Belfast, United Kingdom
    Blood 111:5400-2. 2008
  4. ncbi The frequency of JAK2 exon 12 mutations in idiopathic erythrocytosis patients with low serum erythropoietin levels
    Melanie J Percy
    Department of Haematology, Floor C, Tower Block, Belfast City Hospital, Northern Ireland, UK
    Haematologica 92:1607-14. 2007
  5. pmc A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove
    Melanie J Percy
    Department of Haematology, Belfast City Hospital, Belfast, United Kingdom
    Blood 110:2193-6. 2007
  6. pmc A common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1alpha (HIF-1alpha) does not impair Pro-564 hydroxylation
    Melanie J Percy
    Department of Haematology, Belfast City Hospital, Belfast, Northern Ireland, BT9 7AB, UK
    Mol Cancer 2:31. 2003
  7. ncbi Comparison of diagnostic criteria for polycythaemia vera
    Richard C Turkington
    Department of Haematology, Queen s University Belfast, Belfast City Hospital, Lisburn Road, Belfast, Northern Ireland, BT9 7AB UK
    Hematology 12:123-30. 2007
  8. ncbi The V617F JAK2 mutation and the myeloproliferative disorders
    Melanie J Percy
    Belfast City Hospital and Queen s University, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, Northern Ireland
    Hematol Oncol 23:91-3. 2005
  9. pmc A gain-of-function mutation in the HIF2A gene in familial erythrocytosis
    Melanie J Percy
    Belfast City Hospital, Northern Ireland, United Kingdom
    N Engl J Med 358:162-8. 2008
  10. doi Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis
    Melanie J Percy
    Department of Haematology, Belfast City Hospital, Belfast, Northern Ireland, UK
    Am J Hematol 84:46-54. 2009

Collaborators

Detail Information

Publications27

  1. pmc Familial erythrocytosis arising from a gain-of-function mutation in the HIF2A gene of the oxygen sensing pathway
    Melanie J Percy
    Department of Haematology, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, UK
    Ulster Med J 77:86-8. 2008
    ..Continued study of idiopathic cases of erythrocytosis with raised serum Epo will reveal whether HIF-2 alpha will be a major cause of erythrocytosis on par with VHL...
  2. pmc A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis
    Melanie J Percy
    Department of Haematology, Belfast City Hospital, Belfast BT9 7AB, Northern Ireland, United Kingdom
    Proc Natl Acad Sci U S A 103:654-9. 2006
    ..Our findings indicate that PHD2 is critical for normal regulation of HIF in humans...
  3. pmc Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis
    Melanie J Percy
    Department of Haematology, Belfast City Hospital, Belfast, United Kingdom
    Blood 111:5400-2. 2008
    ..These findings support the importance of HIF-2 alpha in human Epo regulation and warrant investigation of HIF2A in patients with unexplained erythrocytosis...
  4. ncbi The frequency of JAK2 exon 12 mutations in idiopathic erythrocytosis patients with low serum erythropoietin levels
    Melanie J Percy
    Department of Haematology, Floor C, Tower Block, Belfast City Hospital, Northern Ireland, UK
    Haematologica 92:1607-14. 2007
    ..The aims of this study were to assess the prevalence of JAK2 exon 12 mutations in IE patients, and to determine the associated clinicopathological features...
  5. pmc A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove
    Melanie J Percy
    Department of Haematology, Belfast City Hospital, Belfast, United Kingdom
    Blood 110:2193-6. 2007
    ..These findings substantiate PHD2 as a critical enzyme controlling HIF and therefore Epo in humans, and furthermore suggest the location of an active site groove in PHD2 that binds HIF...
  6. pmc A common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1alpha (HIF-1alpha) does not impair Pro-564 hydroxylation
    Melanie J Percy
    Department of Haematology, Belfast City Hospital, Belfast, Northern Ireland, BT9 7AB, UK
    Mol Cancer 2:31. 2003
    ..The transcriptional regulation of the erythropoietin gene by HIF raises the possibility that HIF may play a role in disorders of erythropoiesis, such as idiopathic erythrocytosis (IE)...
  7. ncbi Comparison of diagnostic criteria for polycythaemia vera
    Richard C Turkington
    Department of Haematology, Queen s University Belfast, Belfast City Hospital, Lisburn Road, Belfast, Northern Ireland, BT9 7AB UK
    Hematology 12:123-30. 2007
    ..We concluded that the BCSH criteria were the most accurate diagnostic criteria for PV as they had an acceptable level of sensitivity and could differentiate between PV and other erythrocytoses...
  8. ncbi The V617F JAK2 mutation and the myeloproliferative disorders
    Melanie J Percy
    Belfast City Hospital and Queen s University, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, Northern Ireland
    Hematol Oncol 23:91-3. 2005
    ..This single mutation is widespread having been detected in related MPD and other haematological malignancies. This leads to a number of further questions about the role of this single mutation in the clinical pattern of disease...
  9. pmc A gain-of-function mutation in the HIF2A gene in familial erythrocytosis
    Melanie J Percy
    Belfast City Hospital, Northern Ireland, United Kingdom
    N Engl J Med 358:162-8. 2008
    ..Our functional studies indicate that this mutation leads to stabilization of the HIF-2alpha protein and suggest that wild-type HIF-2alpha regulates erythropoietin production in adults...
  10. doi Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis
    Melanie J Percy
    Department of Haematology, Belfast City Hospital, Belfast, Northern Ireland, UK
    Am J Hematol 84:46-54. 2009
    ..Identification of the disease-causing genes will enable better classification of familial and acquired erythrocytosis and thrombocytosis. Furthermore, it will provide an insight into the mechanisms regulating myeloid cell proliferation...
  11. pmc Two new mutations in the HIF2A gene associated with erythrocytosis
    Melanie J Percy
    Department of Haematology, Belfast City Hospital, Belfast, Northern Ireland BT9 7AB, United Kingdom
    Am J Hematol 87:439-42. 2012
    ..Am. J. Hematol. 2012. © 2012 Wiley Periodicals, Inc...
  12. ncbi Congenital methaemoglobinaemia Type I in a Turkish infant due to a novel mutation, Pro144Ser, in NADH-cytochrome b5 reductase
    Melanie J Percy
    Department of Haematology, Belfast City Hospital, Belfast, Northern Ireland, UK
    Hematol J 5:367-70. 2004
    ..The infant was started on daily ascorbic acid treatment. She has very mild cyanosis and normal growth and developmental parameters on follow-up at 10 months of age...
  13. ncbi Familial idiopathic methemoglobinemia revisited: original cases reveal 2 novel mutations in NADH-cytochrome b5 reductase
    Melanie J Percy
    Department of Haematology, Belfast City Hospital, Northern Ireland
    Blood 100:3447-9. 2002
    ..Thirty-three different mutations have now been recorded for RCM. The original authors' optimism that RCM would provide material for future genetic studies has been amply justified...
  14. doi Methemoglobin reductase deficiency: novel mutation is associated with a disease phenotype of intermediate severity
    Melanie J Percy
    Department of Haematology, Belfast City Hospital, Belfast, Northern Ireland
    J Pediatr Hematol Oncol 34:457-60. 2012
    ..Specific mutations in the CYB5R gene are not exclusive to each type...
  15. doi Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency
    Melanie J Percy
    Haematology, Belfast City Hospital, Belfast, UK
    Br J Haematol 141:298-308. 2008
    ..The development of a heterologous expression system has allowed the impact of naturally occurring variants of cb(5)r to be assessed and has provided insight into the function of cb(5)r...
  16. ncbi Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry
    Melanie J Percy
    Department of Haematology, Floor C, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, Northern Ireland
    Blood 102:1097-9. 2003
    ....
  17. ncbi Disorders of oxidised haemoglobin
    Melanie J Percy
    Department of Haematology, Belfast City Hospital, Tower Block, Lisburn Road, Belfast BT9 7AB, N Ireland, UK
    Blood Rev 19:61-8. 2005
    ..Disorders of oxidised haemoglobin are relatively easily diagnosed and in most cases, except for the presence of congenitally defective haemoglobin M, can be treated successfully...
  18. doi Familial erythrocytosis: molecular links to red blood cell control
    Melanie J Percy
    Haematologica 93:963-7. 2008
  19. pmc Mutation of von Hippel-Lindau tumour suppressor and human cardiopulmonary physiology
    Thomas G Smith
    Department of Physiology, Anatomy, and Genetics, University of Oxford, Oxford, United Kingdom
    PLoS Med 3:e290. 2006
    ..This study investigated patients with Chuvash polycythaemia in order to analyse the role of the VHL-HIF pathway in systemic human cardiopulmonary physiology...
  20. pmc Oxygen sensing: recent insights from idiopathic erythrocytosis
    Frank S Lee
    Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Cell Cycle 5:941-5. 2006
    ..A recent report of familial erythrocytosis now implicates a different protein, Prolyl Hydroxylase Domain protein 2 (PHD2), which is an enzyme that hydroxylates HIF...
  21. ncbi Chronic neutrophilic leukemia with an associated V617F JAK2 tyrosine kinase mutation
    Donald P Mc Lornan
    Haematologica 90:1696-7. 2005
    ..It remains to be established what role this mutation, which gives cells a proliferative advantage, might play in the pathogenesis and prognosis of rare atypical MPD...
  22. ncbi The incidence of the JAK2 V617F mutation in patients with idiopathic erythrocytosis
    Melanie J Percy
    Haematologica 91:413-4. 2006
    ..One patient (1.6%) was found to have this mutation, and has remained stable for 9 years, suggesting that the JAK2 V617F mutation is rare in patients with idiopathic erythrocytosis...
  23. pmc Is congenital secondary erythrocytosis/polycythemia caused by activating mutations within the HIF-2 alpha iron-responsive element?
    Melanie J Percy
    Blood 110:2776-7. 2007
  24. pmc Mutations and polymorphisms in hemoglobin genes and the risk of pulmonary hypertension and death in sickle cell disease
    James G Taylor
    Vascular Medicine Branch, NHLBI, NIH, Bethesda, Maryland 20892 1476, USA
    Am J Hematol 83:6-14. 2008
    ..Despite this protective association, patients with SC who did develop pulmonary hypertension remained at significant risk for death during 49 months of follow-up (Hazard Ratio=8.20, P=0.0057)...
  25. ncbi The worldwide distribution of the VHL 598C>T mutation indicates a single founding event
    Enli Liu
    Baylor College of Medicine and Veterans Affairs Medical Center, Houston, TX, USA
    Blood 103:1937-40. 2004
    ..Haplotype analysis indicated a founder effect. We conclude that the VHL 598C>T mutation, the most common defect of congenital polycythemia yet found, was spread from a single founder 1,000 to 62,000 years ago...
  26. ncbi Erythrocytosis and the Chuvash von Hippel-Lindau mutation
    Melanie J Percy
    Br J Haematol 123:371-2. 2003
  27. ncbi The myeloproliferative disorder-associated JAK2 V617F mutant escapes negative regulation by suppressor of cytokine signaling 3
    Michelle B Hookham
    Infection and Immunity Group, Centre for Cancer Research and Cell Biology, Queen s University, 97 Lisburn Road, Belfast, Northern Ireland, UK
    Blood 109:4924-9. 2007
    ..Thus, JAK2 V617F may even exploit SOCS3 to potentiate its myeloproliferative capacity...