Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 4 of 4 for “"macrothrombocytopenia"”.
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Evaluation of the actin architecture in dysplastic megakaryocytes expressing the NUP98-HOXD13 leukemic fusion gene
… syndrome (MDS) patients present with macrothrombocytopenia due to impaired megakaryocyte (MK) differentiation. Transgenic mice that express the NUP98-HOXD13 (NHD13) fusion gene is a model for MDS and recapitulates the key features of MDS. The study investigated the hypothesis that …
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The role of Nbeal2 in the homeostasis and retention of granules in haematopoietic cells
… Typical clinical features of GPS include macrothrombocytopenia, abnormal or excessive bleeding, splenomegaly, and bone marrow fibrosis. GPS is caused by biallelic mutations in the NBEAL2 gene, where the deficiency of platelet α-granules is attributed to a loss of function in the Nbeal2 …
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An investigation of the role of ACTN1 in platelet formation and of platelet function in myeloma
… platelet disorder ACTN1-related Congenital Macrothrombocytopenia (CMTP) and the acquired prothrombotic state in Multiple Myeloma (MM). Actinin-1 is a widely-expressed actin binding protein but mutations have a tissue-specific impact, causing CMTP, characterised by low platelet count and …
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Genetic and functional studies in inherited platelet disorders
… autosomal recessive disorder, characterised by macrothrombocytopenia, severe deficiency of platelet alpha (α)-granules, and a variable bleeding tendency. Patients may develop splenomegaly, and in the bone marrow, emperipolesis (the engulfment of neutrophils by megakaryocytes (MKs)) is observed, …