• Publications
  • Influence
ACTN1 mutations cause congenital macrothrombocytopenia.
Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly.
TLDR
In vitro transfection experiments in Chinese hamster ovary cells demonstrated no incorporation of mutant beta1-tubulin into microtubules, but the formation of punctuated insoluble aggregates suggested that mutant protein is prone to aggregation but is unstable within megakaryocytes/platelets.
Immunofluorescence Analysis of Neutrophil Nonmuscle Myosin Heavy Chain-A in MYH9 Disorders: Association of Subcellular Localization with MYH9 Mutations
TLDR
Immunofluorescence analysis of neutrophil NMMHCA is useful as a screening test for the clear hematopathologic classification of MYH9 disorders and it is proposed that the localization pattern can be classified into three groups according to the number, size, and shape of the fluorescence-labeled NMMhCA granule.
Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia.
TLDR
Results indicate that αIIb-W995/β3 has a constitutive, activated conformation but does not induce platelet activation, and propose that activating mutations in ITGA2B and ITGB3 represent the etiology of a subset of congenital macrothrombocytopenias.
ANKRD26-related thrombocytopenia and myeloid malignancies.
TLDR
A study analyzing this series of patients suggested that ANKRD26 -RT -RT may be responsible for an autosomal-dominant form of thrombocytopenia.
IL-1α induces thrombopoiesis through megakaryocyte rupture in response to acute platelet needs
An alternative pathway triggering enhanced platelet release from bone marrow megakaryocytes via a rupture-based mechanism is regulated by IL-1α in response to acute platelet requirements.
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions
TLDR
MHA, SBS, and FTNS appear to represent a class of allelic disorders with variable phenotypic diversity with clear phenotype–genotype relationships, according to three previous reports, including the authors'.
Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease.
TLDR
Clinical features and pathophysiological findings of nine EPS-FTNS patients with MYH9 R702 mutations display a strict genotype-phenotype correlation, and lead to the rapid deterioration of podocyte structure, highlighting the critical role of NMMHC-IIA in the development of FSGS.
Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome).
TLDR
Evidence is provided for the involvement of abnormal NMMHC-A in the formation of leukocyte inclusions and also in platelet morphogenesis in Macrothrombocytopenia with leuk cell inclusions.
Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders.
TLDR
Evaluated platelet size on blood films obtained from 376 patients with all 19 forms of IT and found that these conditions differ not only in mean Platelet diameter, but also in platelet diameter distribution width and the percentage of platelets with increased or reduced diameters.
...
...