نتایج جستجو برای: bernard soulier syndrome
تعداد نتایج: 627301 فیلتر نتایج به سال:
Blood platelets are produced by large bone marrow (BM) precursor cells, megakaryocytes (MKs), which extend cytoplasmic protrusions (proplatelets) into BM sinusoids. The molecular cues that control MK polarization towards sinusoids and limit transendothelial crossing to proplatelets remain unknown. Here, we show that the small GTPases Cdc42 and RhoA act as a regulatory circuit downstream of the ...
Defects in filamin A (FLNA) gene could lead to low platelet counts and decreased surface expression of glycoprotein (GP) Ibα. Here, we report and investigate the FLNA genomic alteration of a case with Bernard-Soulier syndrome (BSS), a rare hereditary bleeding disorder caused by quantitative or qualitative abnormalities in the GP Ib-IX-V receptor. DNA sequencing analysis reveals the presence of ...
Each rational investment decision, also that made by client with regard to the Business Software Systems (BSS) Development and Enhancement Projects (D&EP), should meet two measurable criteria: of effectiveness and of economic efficiency. In the case of BSS D&EP the assumption concerning measurability of these criteria is often treated as controversial. Thus the paper aims at proving from theore...
A form of autosomal dominant macrothrombocytopenia is characterized by mild or no clinical symptoms, normal platelet function, and normal megakaryocyte count. Because this condition has so far received little attention, patients are subject to misdiagnosis and inappropriate therapy. To identify the molecular basis of this disease, 12 Italian families were studied by linkage analysis and mutatio...
We have read with interest the article by Kunishima et all in which they report a new molecular variant of Bernard-Soulier syndrome (BSS). Kunishima et al' report a patient with a mean platelet volume of 14.7 pm'. Later in the text, they describe binding levels of monoclonal antibody (MoAb) anti-glycoprotein (GP) IIb-IIIa comparable to the control, as measured by flow cytometric techniques. One...
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