Mapping and Functional Investigation of Genetic Mutations in Patients with Mild, Platelet Bleeding Disorders

Research output

Research output per year 2009 2011 2012 2013 2014 2015 2018 2018

• 17 Article
• 1 Letter

Research output per year

Research output per year

Search results

• 2018

  Investigation of the contribution of an underlying platelet defect in women with unexplained heavy menstrual bleeding

  Lowe, G., Fickowska, R., Al Ghaithi, R. H. R., Maclachlan, A., Harrison, P., Lester, W., Watson, S., Myers, B., Clark, T. J. & Morgan, N., 6 Dec 2018, (E-pub ahead of print) In: Platelets.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Menorrhagia 100%
  • Blood Platelets 60%
  • Hemorrhage 24%
  • Hemostatics 16%
  • Platelet Count 14%
  3 Citations (Scopus)

  213 Downloads (Pure)

• Significant hypo-responsiveness to GPVI and CLEC-2 agonists in pre-term and full term neonatal platelets and following immune thrombocytopenia

  Hardy, A., Palma-Barqueros, V., Watson, S., Malcor, J-D., Eble, J. A., Gardiner, E., Blanco, J., Guijarro-Campillo, R., Delgado, J., Lozano, M. L., Teruel-Montoya, R., Vicente, V., Watson, S., Rivera, J. & Ferrer-Marin, F., Jun 2018, In: Journal of Thrombosis and Haemostasis. 118, 6, p. 1009-1020

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Idiopathic Thrombocytopenic Purpura 100%
  • Blood Platelets 65%
  • Integrins 35%
  • Phosphorylation 12%
  • Conserved Sequence 11%
  11 Citations (Scopus)

  150 Downloads (Pure)
• 2016

  Novel mutations in RASGRP2 encoding for CalDAG-GEFI abrogate Rap1 activation causing platelet dysfunction

  Lozano, M. L., Cook, A., Bastida, J. M., Paul, D. S., Iruin, G., Cid, A. R., Adan-Pedroso, R., González-Porras, J. R., Hernández-Rivas, J. M., Fletcher, S. J., Johnson, B., Morgan, N., Ferrer-Marin, F., Vicente, V., Sondek, J., Watson, S. P., Bergmeier, W. & Rivera, J., 1 Sept 2016, In: Blood. 128, p. 1282-9

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Platelet Activation 100%
  • Mutation 76%
  • Blood Platelets 71%
  • Integrins 57%
  • Whole Exome Sequencing 36%
  49 Citations (Scopus)

  127 Downloads (Pure)
• 2015

  Diversity and impact of rare variants in genes encoding the platelet G protein-coupled receptors

  Jones, M. L., Norman, J. E., Morgan, N. V., Mundell, S. J., Lordkipanidzé, M., Lowe, G. C., Daly, M. E., Simpson, M. A., Drake, S., Watson, S. P., Mumford, A. D. & UK GAPP Study Group, Apr 2015, In: Thrombosis and Haemostasis. 113, 4, p. 826-837 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • G-Protein-Coupled Receptors 100%
  • Blood Platelets 77%
  • Nucleotides 45%
  • Genes 40%
  • Exome 34%
  15 Citations (Scopus)

  280 Downloads (Pure)

• Identification and characterization of novel variations in platelet G-protein coupled receptor (GPCR) genes in patients historically diagnosed with type 1 von Willebrand disease

  Stockley, J., Nisar, S. P., Leo, V. C., Sabi, E., Cunningham, M. R., Eikenboom, J. C., Lethagen, S., Schneppenheim, R., Goodeve, A. C., Watson, S. P., Mundell, S. J., Daly, M. E. & GAPP Study in Collaboration with the MCMDM-1VWD Study Group, 2 Dec 2015, In: PLoS ONE. 10, 12, 15 p., e0143913.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Type 1 von Willebrand Disease 100%
  • G-protein coupled receptors 76%
  • G-Protein-Coupled Receptors 62%
  • Nucleotide 51%
  • Nucleotides 50%
  6 Citations (Scopus)

  68 Downloads (Pure)

• SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects

  Fletcher, S. J., Johnson, B., Lowe, G. C., Bem, D., Drake, S., Lordkipanidzé, M., Guiú, I. S., Dawood, B., Rivera, J., Simpson, M. A., Daly, M. E., Motwani, J., Collins, P. W., Watson, S. P., Morgan, N. V. & UK Genotyping and Phenotyping of Platelets study group, 1 Sept 2015, In: Journal of Clinical Investigation. 125, 9, p. 3600-3605 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Thrombocytopenia 100%
  • Blood Platelets 82%
  • Hemorrhage 68%
  • Mutation 59%
  • Adenosine Triphosphate 35%
  48 Citations (Scopus)

  180 Downloads (Pure)

• Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders

  Leo, V. C., Morgan, N. V., Bem, D., Jones, M. L., Lowe, G. C., Lordkipanidzé, M., Drake, S., Simpson, M., Gissen, P., Mumford, A., Watson, S. P., Daly, M. E. & UK GAPP Study Group, Apr 2015, In: Journal of thrombosis and haemostasis : JTH. 13, 4, p. 643-650 8 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Genetic Association Studies 100%
  • High-Throughput Nucleotide Sequencing 90%
  • Blood Platelets 73%
  • Genes 37%
  • Multigene Family 18%
  46 Citations (Scopus)

  96 Downloads (Pure)
• 2014

  A novel thromboxane A2 receptor N42S variant results in reduced surface expression and platelet dysfunction

  Nisar, S. P., Lordkipanidzé, M., Jones, M., Dawood, B., Murden, S., Cunningham, M. R., Mumford, A. D., Wilde, J. T., Watson, S. P., Mundell, S. J. & Lowe, G., May 2014, In: Thrombosis and Haemostasis. 111, 5, p. 923-932

  Research output: Contribution to journal › Article › peer-review

  • Prostaglandin H2 Receptors Thromboxane A2 100%
  • Thromboxane Receptors 67%
  • Blood Platelets 53%
  • 15-Hydroxy-11 alpha,9 alpha-(epoxymethano)prosta-5,13-dienoic Acid 30%
  • Asparagine 28%
  19 Citations (Scopus)

• Characterization of multiple platelet activation pathways in patients with bleeding as a high-throughput screening option : use of 96-well Optimul assay

  Lordkipanidze, M., Lowe, G. C., Kirkby, N. S., Chan, M. V., Lundberg, M. H., Morgan, N. V., Bem, D., Nisar, S. P., Leo, V. C., Jones, M. L., Mundell, S. J., Daly, M. E., Mumford, A. D., Warner, T. D. & Watson, S. P., 20 Feb 2014, In: Blood. 123, 8, p. e11-e22

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Ristocetin 100%
  • Antithrombocytic Agent 92%
  • Thromboxane 89%
  • Arachidonic Acid 70%
  • Platelet Activation 69%
  44 Citations (Scopus)

  693 Downloads (Pure)

• CLEC-2 expression is maintained on activated platelets and on platelet microparticles

  Gitz, E., Pollitt, A. Y., Gitz-Francois, J. J., Alshehri, O., Mori, J., Montague, S., Nash, G. B., Douglas, M. R., Gardiner, E. E., Andrews, R. K., Buckley, C. D., Harrison, P. & Watson, S. P., 2 Oct 2014, In: Blood. 124, 14, p. 2262-70 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Blood Platelets 100%
  • Protein Hydrolysis 55%
  • Megakaryocytes 51%
  • Proteolysis 40%
  • Immunoreceptor Tyrosine-Based Activation Motif 34%
  69 Citations (Scopus)

  6 Downloads (Pure)
• 2013

  Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects

  Stockley, J., Morgan, N. V., Bem, D., Lowe, G. C., Lordkipanidze, M., Dawood, B., Simpson, M. A., Macfarlane, K., Horner, K., Leo, V. C., Talks, K., Motwani, J., Wilde, J. T., Collins, P. W., Makris, M., Watson, S. P. & Daly, M. E., 12 Dec 2013, In: Blood. 122, 25, p. 4090-4093

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Agonist 100%
  • Thrombocytopenia 98%
  • Disorder 89%
  • Mutation 88%
  • Blood Platelets 81%
  81 Citations (Scopus)

  779 Downloads (Pure)

• Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life

  Lowe, G., Sánchez Guiu, I., Chapman, O., Rivera, J., Lordkipanidzé, M., Dovlatova, N., Wilde, J., Watson, S. P. & Morgan, N. V., Apr 2013, In: Thrombosis and Haemostasis. 109, 4, p. 766-768

  Research output: Contribution to journal › Letter
  13 Citations (Scopus)
• 2012

  Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome

  Smith, H., Galmes, R., Gogolina, E., Straatman-Iwanowska, A., Reay, K., Banushi, B., Bruce, C. K., Cullinane, A. R., Romero, R., Chang, R., Ackermann, O., Baumann, C., Cangul, H., Cakmak Celik, F., Aygun, C., Coward, R., Dionisi-Vici, C., Sibbles, B., Inward, C., Ae Kim, C., & 4 othersKlumperman, J., Knisely, A. S., Gissen, P. & Watson, S., 2012, In: Human Mutation. 33, 12, p. 1656-64 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Arthrogryposis renal dysfunction cholestasis syndrome 100%
  • Protein Transport 58%
  • Arthrogryposis 48%
  • Cholestasis 44%
  • Genotype 37%
  50 Citations (Scopus)

• Evaluation of participants with suspected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel

  Dawood, B. B., Lowe, G. C., Lordkipanidzé, M., Bem, D., Daly, M. E., Makris, M., Mumford, A., Wilde, J. & Watson, S. P., 13 Dec 2012, In: Blood. 120, 25, p. 5041-5049

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Thromboxane 100%
  • ADP 73%
  • Agonist 67%
  • Thromboxanes A 64%
  • Disorder 60%
  82 Citations (Scopus)

  359 Downloads (Pure)

• G6f-like is an ITAM-containing collagen receptor in thrombocytes

  Hughes, C. E., Radhakrishnan, U. P., Lordkipanidzé, M., Egginton, S., Dijkstra, J. M., Jagadeeswaran, P., Watson, S. P. & Katz, E. (ed.), 21 Dec 2012, In: PLoS ONE. 7, 12, e52622.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Immunoreceptor Tyrosine-Based Activation Motif 100%
  • Collagen Receptors 92%
  • blood platelets 76%
  • Collagen 59%
  • tyrosine 57%
  3 Citations (Scopus)

  158 Downloads (Pure)
• 2011

  An intact PDZ motif is essential for correct P2Y(12) purinoceptor traffic in human platelets

  Nisar, S., Daly, ME., Federici, AB., Artoni, A., Mumford, AD., Watson, S. & Mundell, SJ., 1 Nov 2011, In: Blood. 118, 20, p. 5641-5651 11 p.

  Research output: Contribution to journal › Article

  • Purinergic P2Y Receptors 100%
  • Recycling 54%
  • Mutation 50%
  • Blood Platelets 46%
  • Post-Synaptic Density 20%
  40 Citations (Scopus)

• Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome.

  Jones, ML., Murden, SL., Bem, D., Mundell, SJ., Gissen, P., Daly, ME., Watson, S. & Mumford, AD., 24 Nov 2011, In: Journal of Thrombosis and Haemostasis. 10, 2, p. 306 309 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  21 Citations (Scopus)
• 2009

  A novel thromboxane A2 receptor D304N variant which abrogates ligand binding in a patient with a bleeding diathesis

  Mumford, AD., Dawood, B., Daly, ME., Murden, SL., Williams, M., Protty, MB., Spalton, JC., Wheatley, M., Mundell, SJ. & Watson, S., 14 Oct 2009, In: Blood.

  Research output: Contribution to journal › Article

  • Thromboxanes A 100%
  • Thromboxane A2 79%
  • Prostaglandin H2 Receptors Thromboxane A2 79%
  • Thromboxanes 67%
  • Disease Susceptibility 60%
  51 Citations (Scopus)