Publications
204 results found
Deplano S, Atta M, Luqmani A, et al., 2018, Immune thrombocytopenia in the elderly: a single centre experience., 58th Annual Scientific Meeting of the British-Society-for-Haematology, Publisher: WILEY, Pages: 51-51, ISSN: 0007-1048
Farmery JHR, Smith ML, Lynch AG, et al., 2018, Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data, Scientific Reports, Vol: 8, ISSN: 2045-2322
Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to our understanding of cell replication and vitality. The proliferation of whole genome sequencing represents an unprecedented opportunity to glean new insights into telomere biology on a previously unimaginable scale. To this end, a number of approaches for estimating telomere length from whole-genome sequencing data have been proposed. Here we present Telomerecat, a novel approach to the estimation of telomere length. Previous methods have been dependent on the number of telomeres present in a cell being known, which may be problematic when analysing aneuploid cancer data and non-human samples. Telomerecat is designed to be agnostic to the number of telomeres present, making it suited for the purpose of estimating telomere length in cancer studies. Telomerecat also accounts for interstitial telomeric reads and presents a novel approach to dealing with sequencing errors. We show that Telomerecat performs well at telomere length estimation when compared to leading experimental and computational methods. Furthermore, we show that it detects expected patterns in longitudinal data, repeated measurements, and cross-species comparisons. We also apply the method to a cancer cell data, uncovering an interesting relationship with the underlying telomerase genotype.
Grace RF, Layton DM, Galacteros F, et al., 2017, Results Update from the DRIVE PK Study: Effects of AG-348, a Pyruvate Kinase Activator, in Patients with Pyruvate Kinase Deficiency, 59th Annual Meeting of the American-Society-of-Hematology (ASH), Publisher: AMER SOC HEMATOLOGY, ISSN: 0006-4971
- Author Web Link
- Cite
- Citations: 1
Shovlin CL, Boother EJ, Fung CH, et al., 2017, PULMONARY ARTERIOVENOUS MALFORMATIONS, HEREDITARY HAEMORRHAGIC TELANGIECTASIA AND IRON TREATMENTS, Winter Meeting of the British-Thoracic-Society, Publisher: BMJ PUBLISHING GROUP, Pages: A180-A180, ISSN: 0040-6376
Grace RF, Layton DM, Galacteros F, et al., 2017, EFFECTS OF AG-348, A PYRUVATE KINASE ACTIVATOR, IN PATIENTS WITH PYRUVATE KINASE DEFICIENCY: UPDATED RESULTS FROM THE DRIVE PK STUDY, 22nd Congress of the European-Hematology-Association, Publisher: FERRATA STORTI FOUNDATION, Pages: 164-164, ISSN: 0390-6078
Morris A, Bain BJ, Atta M, et al., 2017, A puzzling case of methemoglobinemia, AMERICAN JOURNAL OF HEMATOLOGY, Vol: 92, Pages: 1103-1104, ISSN: 0361-8609
Lehrer-Graiwer J, Howard J, Hemmaway CJ, et al., 2016, Long-Term Dosing in Sickle Cell Disease Subjects with GBT440, a Novel HbS Polymerization Inhibitor, 58th Annual Meeting and Exposition of the American-Society-of-Hematology (ASH), Publisher: AMER SOC HEMATOLOGY, ISSN: 0006-4971
- Author Web Link
- Cite
- Citations: 9
Grace RF, Rose C, Layton DM, et al., 2016, Effects of AG-348, a Pyruvate Kinase Activator, on Anemia and Hemolysis in Patients with Pyruvate Kinase Deficiency: Data from the DRIVE PK Study, 58th Annual Meeting and Exposition of the American-Society-of-Hematology (ASH), Publisher: AMER SOC HEMATOLOGY, ISSN: 0006-4971
- Author Web Link
- Cite
- Citations: 8
Shovlin CL, Hughes JMB, Layton M, et al., 2016, LONG TERM OUTCOMES FOR PATIENTS WITH PULMONARY ARTERIOVENOUS MALFORMATIONS CONSIDERED FOR LUNG TRANSPLANTATION, British Thoracic Society Winter Meeting 2016, Publisher: BMJ PUBLISHING GROUP, Pages: A101-A101, ISSN: 0040-6376
Gill D, Cox T, Bhatia K, et al., 2016, Multilocular thymic cyst presenting with apparent cardiac enlargement on chest radiograph, Postgraduate Medical Journal, Vol: 92, Pages: 686-686, ISSN: 0032-5473
Chaudhry MS, Gilmour KC, House IG, et al., 2016, Missense mutations in the perforin (PRF1) gene as a cause of hereditary cancer predisposition, OncoImmunology, Vol: 5, ISSN: 2162-402X
Perforin, a pore-forming toxin released from secretory granules of NK cells andCTLs, is essential for their cytotoxic activity against infected or cancerous targetcells. Bi-allelic loss-of-function mutations in the perforin gene are invariablyassociated with a fatal immunoregulatory disorder, familial haemophagocyticlymphohistiocytosis type 2 (FHL2), in infants. More recently, it has also beenrecognized that partial loss of perforin function can cause disease in later life,including delayed onset FHL2 and haematological malignancies. Herein wereport a family in which a wide range of systemic inflammatory and neoplasticmanifestations have occurred across three generations. We found that diseasewas linked to two missense perforin gene mutations (encoding A91V, R410W)that cause protein misfolding and partial loss of activity. These cases link thepartial loss of perforin function with some solid tumours that are known to becontrolled by the immune system, as well as haematological cancers. Ourfindings also demonstrate that perforin gene mutations can contribute tohereditary cancer predisposition.
Cho G, Anie KA, Buckton J, et al., 2016, SWIM (sickle with ibuprofen and morphine) randomised controlled trial fails to recruit: lessons learnt, BMJ Open, Vol: 6, ISSN: 2044-6055
ObjectivesSickle With Ibuprofen and Morphine (SWIM) Trial was designed to assess whether co-administration of ibuprofen (a non-steroidal anti-inflammatory drug) resulted in a reduction of opioid consumption delivered by patient controlled analgesia (PCA) for acute pain in sickle cell disease.DesignA randomised, placebo-controlled, double-blind trial.SettingUnited Kingdom multicentre trial in acute hospital setting.ParticipantsAdults with sickle cell disease of any gender and phenotype aged 16 years and over.InterventionsOral ibuprofen at a dose of 800mg three times daily or placebo in addition to opioids (morphine or diamorphine) administered via PCA pump for up to four days.Main outcome measuresThe primary outcome measure was opioid consumption over 4 days following randomisation.ResultsThe SWIM trial closed early because it failed to randomise to its target of 316 patients within a reasonable time.ConclusionsThe key issues identified include the unanticipated length of time between informed consent and randomisation, difficulties in randomisation of patients in busy emergency departments, availability of trained staff at weekends and out of hours, fewer centres than expected using PCA routinely for sickle cell pain treatment, lack of research staff and support for participation, and the trial design. There are implications for future UK trials in sickle cell disease.
Avenoso D, Deplano S, Sevillano B, et al., 2016, Combined plasma exchange and erythrocytapheresis for treatment of multiorgan failure due to suspected fat embolism syndrome in sickle cell disease, 21st Congress of the European Hematology Association, Publisher: Ferrata Storti Foundation, Pages: 134-135, ISSN: 0390-6078
Grace RF, Rose C, Layton DM, et al., 2016, EFFECTS OF AG-348, A PYRUVATE KINASE ACTIVATOR, ON ANEMIA AND HEMOLYSIS IN PATIENTS WITH PYRUVATE KINASE DEFICIENCY: EARLY DATA FROM THE DRIVE PK STUDY, 21st Congress of the European-Hematology-Association, Publisher: FERRATA STORTI FOUNDATION, Pages: 169-169, ISSN: 0390-6078
- Author Web Link
- Cite
- Citations: 1
Lehrer-Graiwer J, Hemmaway C, Howard J, et al., 2016, GBT440, A NOVEL HBS POLYMERIZATION INHIBITOR, INCREASES HB OXYGEN AFFINITY AND RESULTS IN A RAPID IMPROVEMENT IN HEMOLYSIS AND ANEMIA, 21st Congress of the European-Hematology-Association, Publisher: FERRATA STORTI FOUNDATION, Pages: 125-125, ISSN: 0390-6078
- Author Web Link
- Cite
- Citations: 2
Griffin M, Couzens C, Ingram W, et al., 2016, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA SCREENING PRACTICE FROM UK CENTRES: A REPORT FROM THE UK PNH NETWORK, 21st Congress of the European-Hematology-Association, Publisher: FERRATA STORTI FOUNDATION, Pages: 299-299, ISSN: 0390-6078
Griffin M, Couzens S, Ingram W, et al., 2016, Paroxysmal nocturnal haemoglobinuria screening practice from UK centres: A report from the UK PNH Network, 36th World Congress of the International-Society-of-Hematology, Publisher: WILEY-BLACKWELL, Pages: 22-23, ISSN: 0007-1048
Layton DM, Bain BJ, 2016, Dehydrated hereditary stomatocytosis, AMERICAN JOURNAL OF HEMATOLOGY, Vol: 91, Pages: 266-266, ISSN: 0361-8609
- Author Web Link
- Cite
- Citations: 3
Lehrer-Graiwer J, Howard J, Hemmaway CJ, et al., 2015, GBT440, a Potent Anti-Sickling Hemoglobin Modifier Reduces Hemolysis, Improves Anemia and Nearly Eliminates Sickle Cells in Peripheral Blood of Patients with Sickle Cell Disease, 57th Annual Meeting of the American-Society-of-Hematology, Publisher: AMER SOC HEMATOLOGY, ISSN: 0006-4971
- Author Web Link
- Cite
- Citations: 19
Yasuda W, Jackson JE, Layton DM, et al., 2015, Hypoxaemia, sport and polycythaemia: a case from Imperial College London., Thorax, Vol: 70, Pages: 601-603, ISSN: 0040-6376
Costa JR, Caputo VS, Makarona K, et al., 2014, Cell-type-specific transcriptional regulation of <i>PIGM</i> underpins the divergent hematologic phenotype in inherited GPl deficiency, BLOOD, Vol: 124, Pages: 3151-3154, ISSN: 0006-4971
- Author Web Link
- Cite
- Citations: 2
Makarona K, Caputo VS, Costa JR, et al., 2014, Transcriptional and epigenetic basis for restoration of G6PD enzymatic activity in human G6PD-deficient cells, BLOOD, Vol: 124, Pages: 134-141, ISSN: 0006-4971
- Author Web Link
- Cite
- Citations: 17
Mactier CE, Luqmani A, Rowley M, et al., 2014, TREATMENT OF REFRACTORY HYPERHEMOLYTIC TRANSFUSION REACTION IN HEMOGLOBINOPATHIES WITH CYCLOSPORIN, 19th Congress of the European-Hematology-Association, Publisher: FERRATA STORTI FOUNDATION, Pages: 267-267, ISSN: 0390-6078
Al-Jafar HA, Layton DM, Robertson L, et al., 2013, Diagnosis of pyrimidine 5′-nucleotidase deficiency suspected from a blood film, AMERICAN JOURNAL OF HEMATOLOGY, Vol: 88, Pages: 1089-1089, ISSN: 0361-8609
Caputo VS, Costa JR, Makarona K, et al., 2013, Mechanism of Polycomb recruitment to CpG islands revealed by inherited disease-associated mutation, HUMAN MOLECULAR GENETICS, Vol: 22, Pages: 3187-3194, ISSN: 0964-6906
- Author Web Link
- Cite
- Citations: 8
Cabrita IZ, Mohammed A, Layton M, et al., 2013, The association between tricuspid regurgitation velocity and 5-year survival in a North West London population of patients with sickle cell disease in the United Kingdom, BRITISH JOURNAL OF HAEMATOLOGY, Vol: 162, Pages: 400-408, ISSN: 0007-1048
- Author Web Link
- Cite
- Citations: 24
Gargiulo L, Papaioannou M, Sica M, et al., 2013, Glycosylphosphatidylinositol-specific, CD1d-restricted T cells in paroxysmal nocturnal hemoglobinuria, BLOOD, Vol: 121, Pages: 2753-2761, ISSN: 0006-4971
- Author Web Link
- Cite
- Citations: 64
Anwar M, Riyat A, Layton M, et al., 2013, Use of high-fidelity simulation for training in management of acute medical emergencies in sickle cell disease, BRITISH JOURNAL OF HAEMATOLOGY, Vol: 161, Pages: 73-74, ISSN: 0007-1048
Neave EL, Schwarb H, Shlebak A, et al., 2013, Lymphodepletion chemotherapy followed by donor leukocytes for post-transplantation relapse of myelofibrosis after previous donor leukocyte infusion failure, EUROPEAN JOURNAL OF HAEMATOLOGY, Vol: 90, Pages: 76-78, ISSN: 0902-4441
- Author Web Link
- Cite
- Citations: 1
Makarona K, Caputo V, Roper D, et al., 2012, Gene-Selective Histone Hyperacetylation and Enhanced Sp1 Occupancy Underpin Transcriptional Modulation of Genes of the Glycolytic-Pentose Phosphate Pathway in Response to Histone Deacetylase Inhibitors - Therapeutic Implications, 54th Annual Meeting and Exposition of the American-Society-of-Hematology (ASH), Publisher: AMER SOC HEMATOLOGY, ISSN: 0006-4971
- Author Web Link
- Cite
- Citations: 1
This data is extracted from the Web of Science and reproduced under a licence from Thomson Reuters. You may not copy or re-distribute this data in whole or in part without the written consent of the Science business of Thomson Reuters.