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Rare missense variants in Tropomyosin-4 (TPM4) are associated with platelet dysfunction, cytoskeletal defects, and excessive bleeding.
J Thromb Haemost. 2022 Feb;20(2):478-485. doi: 10.1111/jth.15584. Epub 2021 Nov 21.
J Thromb Haemost. 2022.
PMID: 34758189
Free article.
A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants.
Almazni I, Stapley RJ, Khan AO, Morgan NV.
Almazni I, et al. Among authors: stapley rj.
Hum Mutat. 2020 Nov;41(11):1848-1865. doi: 10.1002/humu.24114. Epub 2020 Oct 8.
Hum Mutat. 2020.
PMID: 32935436
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Novel gene variants in patients with platelet-based bleeding using combined exome sequencing and RNAseq murine expression data.
Khan AO, Stapley RJ, Pike JA, Wijesinghe SN, Reyat JS, Almazni I, Machlus KR, Morgan NV; UK GAPP Study Group.
Khan AO, et al. Among authors: stapley rj.
J Thromb Haemost. 2021 Jan;19(1):262-268. doi: 10.1111/jth.15119. Epub 2020 Oct 28.
J Thromb Haemost. 2021.
PMID: 33021027
Free article.
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SLFN14 gene mutations associated with bleeding.
Stapley RJ, Pisareva VP, Pisarev AV, Morgan NV.
Stapley RJ, et al.
Platelets. 2020;31(3):407-410. doi: 10.1080/09537104.2019.1648781. Epub 2019 Aug 4.
Platelets. 2020.
PMID: 31378119
Free PMC article.
Review.
No abstract available.
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Inherited Thrombocytopenia: Update on Genes and Genetic Variants Which may be Associated With Bleeding.
Almazni I, Stapley R, Morgan NV.
Almazni I, et al.
Front Cardiovasc Med. 2019 Jun 19;6:80. doi: 10.3389/fcvm.2019.00080. eCollection 2019.
Front Cardiovasc Med. 2019.
PMID: 31275945
Free PMC article.
Review.
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Heterozygous mutation SLFN14 K208N in mice mediates species-specific differences in platelet and erythroid lineage commitment.
Stapley RJ, Smith CW, Haining EJ, Bacon A, Lax S, Pisareva VP, Pisarev AV, Watson SP, Khan AO, Morgan NV.
Stapley RJ, et al.
Blood Adv. 2021 Jan 26;5(2):377-390. doi: 10.1182/bloodadvances.2020002404.
Blood Adv. 2021.
PMID: 33496736
Free PMC article.
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Post-translational polymodification of β1-tubulin regulates motor protein localisation in platelet production and function.
Khan AO, Slater A, Maclachlan A, Nicolson PLR, Pike JA, Reyat JS, Yule J, Stapley R, Rayes J, Thomas SG, Morgan NV.
Khan AO, et al.
Haematologica. 2022 Jan 1;107(1):243-259. doi: 10.3324/haematol.2020.270793.
Haematologica. 2022.
PMID: 33327716
Free PMC article.
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