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Clinical and Molecular Characteristics of Megakaryocytes in Myelodysplastic Syndrome.
Glob Med Genet
June 2024
Department of Laboratory Medicine, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Myelodysplastic syndrome (MDS) is a malignant clonal disorder of hematopoietic stem cells which is characterized by morphologic dysplasia. However, the pathological characteristics of megakaryocytes (MKs) in MDS patients with gene mutation are not well established. Bone marrow MK specimens from 104 patients with primary MDS were evaluated, and all patients were distributed into two groups according to gene mutation associated with functional MKs.
View Article and Find Full Text PDFβ-1 tubulin R307H SNP alters microtubule dynamics and affects severity of a hereditary thrombocytopenia.
J Thromb Haemost
April 2015
Department of Medicine, Weill Cornell Medical College, New York, NY, USA.
Background: Single nucleotide polymorphisms (SNPs) in platelet-associated genes partly explain inherent variability in platelet counts. Patients with monoallelic Bernard Soulier syndrome due to the Bolzano mutation (GPIBA A156V) have variable platelet counts despite a common mutation for unknown reasons.
Objectives: We investigated the effect of the most common SNP (R307H) in the hematopoietic-specific tubulin isotype β-1 in these Bernard Soulier patients and potential microtubule-based mechanisms of worsened thrombocytopenia.
Rare homozygous status of P43 β1-tubulin polymorphism causes alterations in platelet ultrastructure.
Thromb Haemost
May 2011
Centro Regional de Hemodonación, University of Murcia, Spain.
β1-tubulin is the main constituent of the platelet marginal band and studies with deficient mice showed that it maintains discoid shape and it is required for normal platelet formation. TUBB1 Q43P polymorphism is associated with decreased β1-tubulin expression, diminished platelet reactivity, and partial loss of discoid shape in heterozygous carriers. However, to date no studies have been carried out on homozygous PP individuals.
View Article and Find Full Text PDFGenotype-phenotype relationship for six common polymorphisms in genes affecting platelet function from 286 healthy subjects and 160 patients with mucocutaneous bleeding of unknown cause.
Br J Haematol
June 2009
University of Murcia, Centro Regional de Hemodonación, Murcia, Spain.
Polymorphisms affecting platelet receptors and intracellular proteins have been extensively studied in relation to their potential influence in thrombosis and haemorrhages. However, few reports have addressed their impact on platelet function, with contradictory results. Limitations of these studies include, among others, small number of patients, the platelet functional parameters analyzed and their known variability in the healthy population.
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