Genomes and Genes
M F McMullin
Affiliation: Queen's University Belfast
- Haemoglobin during pregnancy: relationship to erythropoietin and haematinic statusMary Frances McMullin
Department of Haematology, The Queen s University of Belfast, Belfast, UK
Eur J Haematol 71:44-50. 2003....
- JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosisLinda M Scott
University of Cambridge, Cambridge, United Kingdom
N Engl J Med 356:459-68. 2007..However, the molecular basis of these myeloproliferative disorders in patients without the V617F mutation is unclear...
- The frequency of JAK2 exon 12 mutations in idiopathic erythrocytosis patients with low serum erythropoietin levelsMelanie 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...
- A gain-of-function mutation in the HIF2A gene in familial erythrocytosisMelanie 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...
- A common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1alpha (HIF-1alpha) does not impair Pro-564 hydroxylationMelanie 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)...
- HIF pathway mutations and erythrocytosisMary Frances McMullin
Department of Haematology, Belfast City Hospital, Queen s University Belfast, Northern Ireland, UK
Expert Rev Hematol 3:93-101. 2010..A number of mutations in the VHL, PHD2, and HIF2A genes have been identified in individuals. These mutations lead to erythrocytosis. The clinical results of these mutations may include some major thromboembolic events in young patients...
- Long-term bone marrow culture profiles in patients with myelodysplastic syndromes are not explicable by defective apoptosisM F McMullin
Department of Haematology, The Queen s University of Belfast, UK
Leuk Res 22:735-40. 1998..LTBMC profiles correlated well with diagnosis but were unrelated to the extent of intramedullary apoptosis. This suggests that apoptosis is a much more ubiquitous process in disease than previously thought...
- JAK2 V617F: a single mutation in the myeloproliferative group of disordersDonal McLornan
Department of Haematology, Queen's University Belfast, U Floor, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, UK
Ulster Med J 75:112-9. 2006
- Erythropoietin receptor and hematological diseaseM F McMullin
Department of Haematology, The Queen s University of Belfast, The Royal Victoria Hospital, Northern Ireland
Am J Hematol 60:55-60. 1999..Access to a range of laboratory investigations may define the molecular pathophysiology. We will now discuss how this process can be investigated...
- Homocysteine and methylmalonic acid as indicators of folate and vitamin B12 deficiency in pregnancyM F McMullin
Department of Haematology, The Queen s University of Belfast, Belfast, UK
Clin Lab Haematol 23:161-5. 2001..These sensitive assays are useful tools for the further investigation of folate vitamin B12 and metabolism in normal and abnormal pregnancy...
- The classification and diagnosis of erythrocytosisM F McMullin
Department of Haematology, The Queen s University, Belfast, UK
Int J Lab Hematol 30:447-59. 2008..It should thus be possible to make an accurate diagnosis in the majority of patients...
- A review of the therapeutic agents used in the management of polycythaemia veraMary Frances McMullin
Haematology, Queen s University, Belfast, U Floor, Tower Block, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, UK
Hematol Oncol 25:58-65. 2007..Assessment of this evidence and its limitations form the basis for the current suggested management plans...
- Novel and Mediterranean beta thalassemia mutations in the indigenous Northern Ireland populationM Knott
Department of Hematology, Floor C, Tower Block, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, Northern Ireland
Blood Cells Mol Dis 36:265-8. 2006..It remains to be established whether the novel mutations have arisen de novo in Northern Ireland...
- The finding of a reciprocal whole-arm translocation t(X;12)(p10;p10) in association with atypical chronic myeloid leukaemiaP T Elder
Department of Haematology, Belfast City Hospital, Belfast Health and Social Care Trust, Belfast, BT9 7AB, UK
Med Oncol 27:760-2. 2010..We also discuss how such a translocation might lead to tumorigenesis...
- Erythrocytosis due to a mutation in the erythropoietin receptor geneM J Percy
Department of Haematology, The Queen s University of Belfast, Northern Ireland
Br J Haematol 100:407-10. 1998..The mutation (G6002A) has arisen independently in a Finnish family and de novo in this English boy. Patients with unexplained erythrocytosis and low serum Epo levels should be investigated for EpoR mutations...
- Sequence characterisation and expression of homeobox HOX A7 in the multi-potential erythroleukaemic cell line TF-1M A McIlhatton
Department of Haematology, Institute of Clinical Science, The Queen s University of Belfast, Royal Victoria Hospital, Belfast BT12 6BA, UK
Biochim Biophys Acta 1442:329-33. 1998..The predicted amino acid sequence C-terminal to the homeodomain consists of an alanine-rich region and a strongly negatively charged domain consisting entirely of aspartic and glutamic acid residues...
- Recessive congenital methaemoglobinaemia: functional characterization of the novel D239G mutation in the NADH-binding lobe of cytochrome b5 reductaseM J Percy
Department of Haematology, Belfast City Hospital, Belfast, UK
Br J Haematol 129:847-53. 2005..Thus cytb(5)r deficient patients who are heterozygous for an NADH-binding lobe mutation can exhibit the clinically less severe type I phenotype, even in association with heterozygous deletion of the NADH-binding lobe...
- Use of imatinib mesylate in elderly patients in Northern Ireland: evidence of comparable haematological and molecular responses to younger patientsO M Sheehy
Department of Haematology, Belfast City Hospital, 97 Lisburn Rd, Belfast BT9 7AB, UK
Hematology 13:133-6. 2008..The advent of imatinib therapy appears to have ameliorated much of the negative impact of advancing age on survival in patients with CML...
- Pyruvate kinase deficient hemolytic anemia in the Northern Irish populationM J Percy
Department of Haematology, Floor C, Tower Block, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, Northern Ireland
Blood Cells Mol Dis 39:189-94. 2007..Hence, many cases of pyruvate kinase deficiency may remain undetected possibly due to the resultant anemia being mild...
- The V617F JAK2 mutation and the myeloproliferative disordersMelanie 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...
- Integration of conventional cytogenetics, comparative genomic hybridisation and interphase fluorescence in situ hybridisation for the detection of genomic rearrangements in acute leukaemiaP McGrattan
Department of Medical Genetics, Belfast City Hospital, Belfast Health and Social Care Trust, Belfast, Northern Ireland
J Clin Pathol 61:903-8. 2008....
- Thrombotic thrombocytopenic purpura secondary to StreptococcusM J Morrin
Department of Haematology, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, United Kingdom
Transfus Apher Sci 34:153-5. 2006..This is only the third case report describing TTP following streptococcal infection, and only the second in the era of plasmapheresis...
- Idiopathic pure red cell aplasia: first report on CD8 positive lymphocytosis in bone marrow biopsy sectionsK M A Ramadan
Haematology Department, Belfast City Hospital, Belfast BT9 7AB, Northern Ireland, UK
J Clin Pathol 58:1118-20. 2005..Therefore, immunohistochemical analysis should be performed routinely in this rare disease and the data acquired may help to inform the choice of treatment...
- The myeloproliferative disorder-associated JAK2 V617F mutant escapes negative regulation by suppressor of cytokine signaling 3Michelle 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...
- A new polycythaemia vera-associated SOCS3 SH2 mutant (SOCS3F136L) cannot regulate erythropoietin responsesYvonne Suessmuth
Centre for Infection and Immunity, Queen s University, Belfast, Northern Ireland
Br J Haematol 147:450-8. 2009..Our findings suggest that this loss-of-function SOCS3 mutation may have contributed to disease onset by causing deregulated JAK2 signalling in the presence of a constitutively active JAK2(N542-E543del) mutant...
- Novel exon 12 mutations in the HIF2A gene associated with erythrocytosisMelanie 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...
- Two routes to leukemic transformation after a JAK2 mutation-positive myeloproliferative neoplasmPhilip A Beer
Department of Haematology, Cambridge Institute for Medical Research, Cambridge, UK
Blood 115:2891-900. 2010....
- Familial idiopathic methemoglobinemia revisited: original cases reveal 2 novel mutations in NADH-cytochrome b5 reductaseMelanie 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...
- Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestryMelanie J Percy
Department of Haematology, Floor C, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, Northern Ireland
Blood 102:1097-9. 2003....
- Glucose-6-phosphate dehydrogenase Guadalajara--a case of chronic non-spherocytic haemolytic anaemia responding to splenectomy and the role of splenectomy in this disorderJ W Hamilton
Department of Hematology, Belfast City Hospital, UK
Hematology 9:307-9. 2004..Those cases with exon 10 mutations often have a severe clinical phenotype, which responds to splenectomy. This procedure should be considered in this condition...
- The optimal management of polycythaemia veraMary Frances McMullin
Br J Haematol 120:543-4; author reply 544-5. 2003
- The incidence of the JAK2 V617F mutation in patients with idiopathic erythrocytosisMelanie 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...