All Outputs (3)

Genetic correlation between multiple myeloma and chronic lymphocytic leukaemia provides evidence for shared aetiology (2018)
Journal Article
Went, M., Sud, A., Speedy, H., Sunter, N. J., Försti, A., Law, P. J., Johnson, D. C., Mirabella, F., Holroyd, A., Li, N., Orlando, G., Weinhold, N., van Duin, M., Chen, B., Mitchell, J. S., Mansouri, L., Juliusson, G., Smedby, K. E., Jayne, S., Majid, A., …Houlston, R. S. (2019). Genetic correlation between multiple myeloma and chronic lymphocytic leukaemia provides evidence for shared aetiology. Blood Cancer Journal, 9(1), Article 1. https://doi.org/10.1038/s41408-018-0162-8

© 2018, The Author(s). The clustering of different types of B-cell malignancies in families raises the possibility of shared aetiology. To examine this, we performed cross-trait linkage disequilibrium (LD)-score regression of multiple myeloma (MM) a... Read More about Genetic correlation between multiple myeloma and chronic lymphocytic leukaemia provides evidence for shared aetiology.

Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia (2018)
Journal Article
Turro, E., Bariana, T. K., Gomez, K., Labarque, V., Heremans, J., Whitehorn, D., …Shamardina, O. (2018). Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia. Haematologica, 104(4), haematol.2018.204784. https://doi.org/10.3324/haematol.2018.204784

Sphingolipids are fundamental to membrane trafficking, apoptosis and cell differentiation and proliferation. KDSR or 3-keto-dihydrosphingosine reductase is an essential enzyme for de novo sphingolipid synthesis, and pathogenic mutations in KDSR resul... Read More about Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.

A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia (2018)
Journal Article
Johnson, B., Doak, R., Allsup, D., Astwood, E., Evans, G., Grimley, C., James, B., Myers, B., Stokley, S., Thachil, J., Wilde, J., Williams, M., Makris, M., Lowe, G. C., Wallis, Y., Daly, M. E., Morgan, N. V., & the UK GAPP Study Group. (2018). A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia. Research and Practice in Thrombosis and Haemostasis, 2(4), 640-652. https://doi.org/10.1002/rth2.12151

Background: Inherited thrombocytopenias (ITs) are a heterogeneous group of disorders characterized by low platelet counts and often disproportionate bleeding with over 30 genes currently implicated. Previously the UK-GAPP study using whole exome sequ... Read More about A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.