Ming-yang Deng

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PURPOSE To identify a novel pathogenic gene mutation present in a Chinese family with hereditary hemorrhagic telangiectasia (HHT) and to determine if an intron mutation may influence the transcriptional activity of the ACVRL1 gene. METHODS HHT family members were ascertained following the presentation of proband and involved subjects. All family members(More)
To the Editor, Thrombotic thrombocytopenic purpura (TTP) is a rare but fatal disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, neurologic disturbances, renal abnormalities and fever. It is now recognized that congenital and acute acquired TTP are due to a deficiency of von Willebrand factor (vWF) cleaving protein, also known as(More)
Thrombotic thrombocytopenic purpura (TTP) is a life-threatening disease characterized by microvascular platelet deposition and thrombus formation with resulting microangiopathic hemolytic anemia. Deficiency of the von Willebrand factor cleavage protease, also known as ADAMTS 13, has been implicated as an important etiological factor in TTP. Little studies(More)
Antithrombin Cambridge II(A384S) mutation shows a relatively high frequency in western population. Some studies suggest that the mutation is an independent genetic risk factor both for deep vein thrombosis (DVT) and for arterial thrombosis, but whether the mutation has racial difference or has a general significance for thrombophilia remains unclear. In(More)
OBJECTIVE To investigate the frequency of JAK2 V617F mutation in 145 myeloproliferative disorders (MPDs) patients, analyze the correlation between JAK2 V617F mutation and clinical features. METHODS The JAK2 V617F mutation was detected by direct DNA sequencing of PCR product and allele-specific PCR respectively. The expression of JAK2, phospho-JAK2 and(More)
OBJECTIVE To monitor the changes of hemolysis parameters and endothelial cell markers in thrombotic thrombocytopenic purpura (TTP) and reveal the clinical significance of these changes. METHODS vWF-cleaving protease (vWF-CP) activity in 3 cases of TTP was detected by Western blot. The percentages of fragmented red cells (FRC) were counted throughout the(More)
INTRODUCTION We diagnosed two Chinese hereditary PC deficiency families and identified two novel compound heterozygous mutations (p.Arg194Cys/Gly324Ser and p.Glu274X/Asp297His) in the protein C (PROC) gene. The probands were classified as types I and II PC deficiency. The aim of this article is to access the influence of the mutations on PC activity,(More)
Common germline single-nucleotide polymorphisms (SNPs) at JAK2 locus have been associated with Myeloproliferative neoplasms (MPN). And, the germline sequence variant rs2736100 C in TERT is related to risk of MPN, suggesting a complex association between SNPs and the pathogenesis of MPN. Our previous study (unpublished data) showed that there was a high(More)
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