Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders
EJ Baxter, LM Scott, PJ Campbell, C East… - The Lancet, 2005 - thelancet.com
Background Human myeloproliferative disorders form a range of clonal haematological
malignant diseases, the main members of which are polycythaemia vera, essential …
malignant diseases, the main members of which are polycythaemia vera, essential …
[HTML][HTML] JAK2 Exon 12 Mutations in Polycythemia Vera and Idiopathic Erythrocytosis
LM Scott, W Tong, RL Levine, MA Scott… - … England Journal of …, 2007 - Mass Medical Soc
Background The V617F mutation, which causes the substitution of phenylalanine for valine
at position 617 of the Janus kinase (JAK) 2 gene (JAK2), is often present in patients with …
at position 617 of the Janus kinase (JAK) 2 gene (JAK2), is often present in patients with …
Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study
PJ Campbell, LM Scott, G Buck, K Wheatley, CL East… - The Lancet, 2005 - thelancet.com
Summary Background An acquired V617F mutation in JAK2 occurs in most patients with
polycythaemia vera, but is seen in only half those with essential thrombocythaemia and …
polycythaemia vera, but is seen in only half those with essential thrombocythaemia and …
[HTML][HTML] Leukemia-associated somatic mutations drive distinct patterns of age-related clonal hemopoiesis
Clonal hemopoiesis driven by leukemia-associated gene mutations can occur without
evidence of a blood disorder. To investigate this phenomenon, we interrogated 15 mutation …
evidence of a blood disorder. To investigate this phenomenon, we interrogated 15 mutation …
Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia
LM Scott, MA Scott, PJ Campbell, AR Green - Blood, 2006 - ashpublications.org
Abstract An acquired V617F JAK2 mutation occurs in patients with polycythemia vera (PV) or
essential thrombocythemia (ET). In a proportion of V617F-positive patients, mitotic …
essential thrombocythemia (ET). In a proportion of V617F-positive patients, mitotic …
Leukaemia update. Part 1: diagnosis and management
NF Grigoropoulos, R Petter, MB Van't Veer, MA Scott… - Bmj, 2013 - bmj.com
About 8000 people in the United Kingdom are diagnosed with leukaemia each year, and in
2010, 4504 people died in the UK from this disease. 1 Leukaemia encompasses a clinically …
2010, 4504 people died in the UK from this disease. 1 Leukaemia encompasses a clinically …
Clinical utility of routine MPL exon 10 analysis in the diagnosis of essential thrombocythaemia and primary myelofibrosis
EM Boyd, AJ Bench… - British journal of …, 2010 - Wiley Online Library
Approximately 50% of essential thrombocythaemia and primary myelo‐fibrosis patients do
not have a JAK2 V617F mutation. Up to 5% of these are reported to have a MPL exon 10 …
not have a JAK2 V617F mutation. Up to 5% of these are reported to have a MPL exon 10 …
Cystic fibrosis transmembrane conductance regulator (CFTR) is expressed in human bone
Mutations within the CFTR gene are central to the pathophysiology of cystic fibrosis. CFTR
encodes a chloride channel that is located primarily on epithelial cell membranes and is …
encodes a chloride channel that is located primarily on epithelial cell membranes and is …
A practical strategy for the routine use of BIOMED‐2 PCR assays for detection of B‐and T‐cell clonality in diagnostic haematopathology
H Liu, AJ Bench, CM Bacon, K Payne… - British journal of …, 2007 - Wiley Online Library
BIOMED‐2 polymerase chain reaction (PCR) assays for clonality analysis of
immunoglobulin (IG) and T‐cell receptor (TCR) gene rearrangements were evaluated in …
immunoglobulin (IG) and T‐cell receptor (TCR) gene rearrangements were evaluated in …
High resolution melting analysis for detection of BRAF exon 15 mutations in hairy cell leukaemia and other lymphoid malignancies
EM Boyd, AJ Bench, MB van 't Veer… - British journal of …, 2011 - Wiley Online Library
Summary The BRAF V600E mutation has recently been described in all cases of hairy cell
leukaemia (HCL). We have developed and validated a rapid and sensitive high‐resolution …
leukaemia (HCL). We have developed and validated a rapid and sensitive high‐resolution …