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Gene of the Issue

ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia

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Pages 98-101 | Received 03 Jul 2017, Accepted 11 Aug 2017, Published online: 10 Nov 2017

References

  • Nurden AT, Caen JP. Specific roles for platelet surface glycoproteins in human platelet function. Nature 1975;255:720–722.
  • Coller BS, Shattil SA. The GPIIb/IIIa (integrin αIIbβ3) odyssey: A technology-driven saga of a receptor with twists, turns, and even a bend. Blood 2008;112:3011–3025.
  • George JN, Caen JP, Nurden AT. Glanzmann’s thrombasthenia: The spectrum of clinical disease. Blood 1990;75:1383–1395.
  • Zhu J, Luo BH, Barth P, Schonbrun J, Baker D, Springer TA. The structure of a receptor with two associating transmembrane domains on the cell surface:integrin:alphaIIbbeta3. Mol Cell 2009;34:234–239.
  • Nurden AT. Should studies on Glanzmann thrombasthenia not be telling us more about cardiovascular disease and other major illnesses? Blood Rev 2017;31:287–299.
  • Nurden AT, Fiore M, Nurden P, Pillois X. Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models. Blood 2011;118:5996–6005.
  • Newman PJ, Seligsohn U, Lyman S, Coller BS. The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel. Proc Ntal Acad Sci USA 1991;88:3160–3164.
  • Jin Y, Dietz HC, Nurden A, Bray PF. Single-strand conformation polymorphism analysis is a rapid and effective method for the identification of mutations and polymorphisms in the gene for glycoprotein IIIa. Blood 1993;82:2281–2288.
  • Nurden AT, Pillois X, Fiore M, Alessi M-C, Bonduel M, Dreyfus M, Goudemand J, Gruel Y, Benabdallah-Guerida S, Latger-Cannard V, Négrier C, et al. Expanding the mutation spectrum of the αIIbβ3 integrin in Glanzmann thrombasthenia: Screening of the ITGA2B and ITGB3 genes in a large international cohort. Hum Mutat 2015;36:548–561.
  • Buitrago L, Rendon A, Liang Y, Simeoni I, Negri A, Filizola M, ThromboGenomics Consortium, Ouwehand WH, Coller BS. αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia. Proc Nat Acad Sci, USA 2015;112:E1898–907. doi:10.1073/pnas.142238112. Epub 2015 Mar 10.
  • Simeoni I, Stephens JC, Hu F, Sv D, Megy K, Bariana TK, Lentaigne C, Schulman S, Sivapalaratnam S, Vries MJ, et al. A comprehensive high-throughput sequencing test for the diagnosis of inherited bleeding, thrombotic and platelet disorders. Blood 2016;127:2791–2803.
  • Fiore M, Pillois X, Nurden P, Nurden AT, Austerlitz F. Founder effect and estimation of the age of the French gypsy mutation associated with Glanzmann thrombasthenia in Manouche families. Eur J Hum Genet 2011;19:981–987.
  • Mitchell WB, Li J, French DL, Coller BS. alphaIIbbeta3 biogenesis is controlled by engagement of alphaIIb in the calnexin cycle via the N15-linked glycan. Blood 2005;107:2713–2719.
  • Wegener KL, Partridge AW, Han J, Pickford AR, Liddington RC, Ginsberg MH, Campbell ID. Structural basis of integrin activation by talin. Cell 2007;128:171–182.
  • Moser M, Nieswandt B, Ussar S, Pozgajova M, Fassler R. Kindlin-3 is essential for integrin activation and platelet aggregation. Nat Med 2008;14:325–330.
  • Nurden P, Bordet JC, Pillois X, Nurden AT. An intracytoplasmic β3 Leu 718 deletion in a patient with a novel platelet phenotype. Blood Adv 2017;1:494–499.
  • Bury L, Falcinelli E, Chiasserini D, Springer TA, Italiano JE Jr., Gresele P. Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia. Haematologica 2016;101:46–56.
  • Pillois X, Nurden AT. Linkage disequilibrium amongst ITGA2B and ITGB3 gene variants in patients with Glanzmann thrombasthenia confirms that most disease-causing mutations are recent. Br J Haematol 2016;175:686–695.
  • Ley K, Rivera-Nieves J, Sandborn WJ, Shattil S. Integrin-based therapeutics: Biological basis, clinical use and new drugs. Nat Rev Drug Discov 2016;15:173–183.
  • Nurden AT. The biology of the platelet with special reference to inflammation, wound healing and immunity. Front Biosci (Landmark) 2018;23:726–751.

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