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Membrane procoagulation and N‑terminomics/TAILS profiling in Montreal platelet syndrome kindred with VWF p.V1316M mutation
BackgroundThe Montreal platelet syndrome kindred (MPS) with VWF p.V1316M mutation (2B-VWDMPS) is an extremely rare disorder. It has been associated...
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SERPINC1 c.1247dupC: a novel SERPINC1 gene mutation associated with familial thrombosis results in a secretion defect and quantitative antithrombin deficiency
BackgroundAntithrombin (AT) is an important anticoagulant in hemostasis. We describe here the characterization of a novel AT mutation associated with...
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Mutation detection and inhibitor analysis of 43 children with severe hemophilia A in a single center: three novel mutations
To investigate the risk factors of FVIII inhibitors development in severe hemophilia A (HA) patients who were received on-demand therapy and were...
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Exome sequencing identified a novel Col6α1 mutation in an Iranian patient with Ullrich congenital muscular dystrophy: a case report
IntroductionUllrich congenital muscular dystrophy (UCMD) is a severe form of inherited muscle weakness at birth. Recent genetic studies discovered...
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Contributions of bone marrow monocytes/macrophages in myeloproliferative neoplasms with JAK2V617F mutation
The classic BCR-ABL1-negative myeloproliferative neoplasm (MPN) is a highly heterogeneous hematologic tumor that includes three subtypes, namely...
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Focused panel sequencing points to genetic predisposition in non-cirrhotic intrahepatic portal hypertension patients in India
ObjectiveNon-cirrhotic intrahepatic portal hypertension (NCIPH), a portal microangiopathy affecting small portal vein radicles, is a disease of...
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Imbalance of the von Willebrand Factor — ADAMTS-13 axis in patients with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S)
BackgroundRetinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is an ultra-rare, autosomal-dominant small...
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Noonan syndrome with RAF1 gene mutations in a newborn with cerebral haemorrhage
BackgroundNoonan syndrome is an autosomal dominant genetic disorder that can occur in men and women and has a sporadic or family history. NS can lead...
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Genoty** R1336X and Eliminating the Pseudogene Amplification in Type 3 von Willebrand Disease Patients
Among inherited bleeding disorders, von Willebrand disease (VWD) is the most common disease worldwide. Type 3, the most severe form, is more...
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A case of ischemic stroke with hemorrhagic transformation associated with essential thrombocythemia and JAK-2 V617F mutation
BackgroundEssential thrombocythemia (ET) is a rare cause of stroke. The V617F mutation in the Janus kinase 2 (JAK2) gene is one of the most typical...
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A study of recurrent life-threatening thrombosis accompanied with the duplication of the factor IX gene
Hereditary predisposition play an important role in thrombosis, especially in younger patients. Here we studied a young patient who experienced three...
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The disulfide bond Cys2724-Cys2774 in the C-terminal cystine knot domain of von Willebrand factor is critical for its dimerization and secretion
BackgroundType 3 von Willebrand disease (VWD) exhibits severe hemorrhagic tendency with complicated pathogenesis. The C-terminal cystine knot (CTCK)...
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Frontiers in pathophysiology and management of thrombotic thrombocytopenic purpura
Thrombotic thrombocytopenic purpura (TTP) is a fatal disease in which platelet-rich microthrombi cause end-organ ischemia and damage. TTP is caused...
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Hereditary TTP/Upshaw–Schulman syndrome: the ductus arteriosus controls newborn survival
Hereditary TTP (hTTP), termed Upshaw–Schulman syndrome, is an ultra-rare disorder caused by a severe deficiency of plasma ADAMTS13 activity that...
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Disruption of the glomerular basement membrane associated with nutcracker syndrome and double inferior vena cava in Noonan syndrome: a case report
BackgroundNutcracker syndrome (NCS) is characterized by compression of the left renal vein (LRV) between the aorta and the superior mesenteric...
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Intratumoral PDGFB gene predominantly expressed in endothelial cells is associated with angiogenesis and lymphangiogenesis, but not with metastasis in breast cancer
PurposePlatelet-derived growth factor B (PDGFB) is known to play essential roles in angiogenesis and lymphangiogenesis during development, and tumor...
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Upshaw–Schulman Syndrome with a Novel Deletion in Exon 17 of ADAMTS 13 Gene
Upshaw–Schulman syndrome is a rare congenital form of thrombotic thrombocytopenic purpura (TTP) characterized by single or recurrent episodes of...
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SRSF2-P95H decreases JAK/STAT signaling in hematopoietic cells and delays myelofibrosis development in mice
Heterozygous mutation targeting proline 95 in Serine/Arginine-rich Splicing Factor 2 (SRSF2) is associated with V617F mutation in Janus Activated...
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Putative effect of melatonin on cardiomyocyte senescence in mice with type 1 diabetes mellitus
BackgroundTo date, many investigators have tried to clarify the molecular mechanism of cardiovascular injuries after T1D. In present study, we...
