Behnaz Pezeshkpoor
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View article: Divergent processing of FVIII light chain variants: secretory potential versus proteasomal retention
Divergent processing of FVIII light chain variants: secretory potential versus proteasomal retention Open
In 20-30% of severe Haemophilia A (HA) patients, FVIII replacement therapy is hindered by inhibitory antibodies. Nonsense mutations in the FVIII light chain (A3-C1-C2) carry a higher risk of inhibitor formation than those in the heavy chai…
View article: Laboratory Monitoring in Patients Receiving Emicizumab
Laboratory Monitoring in Patients Receiving Emicizumab Open
Emicizumab is a bispecific monoclonal antibody that mimics the cofactor function of activated factor VIII (FVIIIa). It is approved for routine prophylaxis in patients with severe or moderate congenital hemophilia A (HA), both with and with…
View article: Automated Quantitative Immunofluorescence Microscopy Approach for Diagnosis of Hereditary Thrombopathies: A Proof of Concept Using Bernard–Soulier Syndrome and Glanzmann Thrombasthenia
Automated Quantitative Immunofluorescence Microscopy Approach for Diagnosis of Hereditary Thrombopathies: A Proof of Concept Using Bernard–Soulier Syndrome and Glanzmann Thrombasthenia Open
Inherited platelet disorders (IPDs) are rare bleeding disorders characterized by impaired platelet function and/or reduced blood platelet count. Their diagnosis typically relies on complex laboratory methods, including flow cytometry, aggr…
View article: Landscape and Spectrum of VWF Variants in Type 2 Von Willebrand Disease: Insights from a German Patient Cohort
Landscape and Spectrum of VWF Variants in Type 2 Von Willebrand Disease: Insights from a German Patient Cohort Open
von Willebrand disease (VWD) type 2 arises from variants in von Willebrand factor (VWF) that disrupt its essential hemostatic functions. As per ISTH guidelines, it is classified as type 2A, 2B, 2M, and 2N based on the affected VWF roles. T…
View article: Profiling of Anti‐FVIII Antibodies in Acquired Haemophilia A: ‘Insights into Domain Specificity, Isotype Variability, and Clinical Correlations’
Profiling of Anti‐FVIII Antibodies in Acquired Haemophilia A: ‘Insights into Domain Specificity, Isotype Variability, and Clinical Correlations’ Open
Introduction Acquired haemophilia A (AHA) is a rare autoimmune disorder caused by autoantibodies against coagulation factor VIII (FVIII), resulting in significant bleeding risks. Aim To characterize the anti‐FVIII antibody profile in AHA p…
View article: <i>TFAP2E</i>is implicated in central nervous system, orofacial and maxillofacial anomalies
<i>TFAP2E</i>is implicated in central nervous system, orofacial and maxillofacial anomalies Open
Background Previous studies in mouse, Xenopus and zebrafish embryos show strong tfap2e expression in progenitor cells of neuronal and neural crest tissues suggesting its involvement in neural crest specification. However, the role of human…
View article: Modulation of Haemostatic Balance in Combined von Willebrand Disease and Antithrombin Deficiency: A Comprehensive Family Study
Modulation of Haemostatic Balance in Combined von Willebrand Disease and Antithrombin Deficiency: A Comprehensive Family Study Open
Introduction Maintaining the balance between procoagulant and anticoagulant factors is essential for effective haemostasis. Emerging evidence suggests a modulation of bleeding tendency by factors in the anticoagulant and fibrinolytic syste…
View article: Comprehensive evaluation of anti-emicizumab antibodies in acquired hemophilia A: a detailed case study and methodological evaluation
Comprehensive evaluation of anti-emicizumab antibodies in acquired hemophilia A: a detailed case study and methodological evaluation Open
This study presents the first documented case of anti-emicizumab antibodies in AHA. Our study provides insights into ADA development against emicizumab, emphasizing the need for monitoring tools. The developed method enables comprehensive …
View article: Unravelling the spectrum of von Willebrand factor variants in quantitative von Willebrand disease: results from a German cohort study
Unravelling the spectrum of von Willebrand factor variants in quantitative von Willebrand disease: results from a German cohort study Open
View article: In-depth structure-function profiling of the complex formation between clotting factor VIII and heme
In-depth structure-function profiling of the complex formation between clotting factor VIII and heme Open
Our study provides not only novel molecular insights into the FVIII-heme interaction and its physiological relevance, but also strongly suggests the reduction of the intrinsic pathway and the accentuation of the final clotting step (by, fo…
View article: Comprehensive domain-specific analysis and immunoglobulin G profiling of anti–factor VIII antibodies using a bead-based multiplex immunoassay
Comprehensive domain-specific analysis and immunoglobulin G profiling of anti–factor VIII antibodies using a bead-based multiplex immunoassay Open
LumiTope assay provides a sensitive and specific method for not only detection but also domain specification of anti-FVIII-antibodies. Implementation of bead-based assays could improve antibody detection, profiling, and comparability of re…
View article: Genetic Landscape of Factor VII Deficiency: Insights from a Comprehensive Analysis of Pathogenic Variants and Their Impact on Coagulation Activity
Genetic Landscape of Factor VII Deficiency: Insights from a Comprehensive Analysis of Pathogenic Variants and Their Impact on Coagulation Activity Open
Congenital factor VII (FVII) deficiency is a rare genetic bleeding disorder characterized by deficient or reduced activity of coagulation FVII. It is caused by genetic variants in the F7 gene. We aimed to evaluate the rate of detection of …
View article: The Endothelium Modulates the Prothrombotic Phenotype of Factor V Leiden: Evidence from an Ex Vivo Model
The Endothelium Modulates the Prothrombotic Phenotype of Factor V Leiden: Evidence from an Ex Vivo Model Open
Background Clinical expressivity of the thrombophilic factor V Leiden (FVL) mutation is highly variable. Increased activated protein C (APC) formation in response to thrombin formation has been observed in asymptomatic FVL carriers in vivo…
View article: OC 33.3 Evaluating the Impact of anti-PEG Antibodies on Activation of PEGylated Therapeutic FVIII Products
OC 33.3 Evaluating the Impact of anti-PEG Antibodies on Activation of PEGylated Therapeutic FVIII Products Open
lymphangiogenesis after hemarthrosis in FVIII-/-mice.The absence of such findings in HypoBALB/c mice with transient FVIII deficiency but similar joint bleed volumes suggests that processes involving adaptive lymphangiogenesis are critical …
View article: Fibrinogen Bonn (p. Arg510Cys) in the Aα-Chain Is Associated with High Risk of Venous Thrombosis
Fibrinogen Bonn (p. Arg510Cys) in the Aα-Chain Is Associated with High Risk of Venous Thrombosis Open
Introduction Inherited dysfibrinogenemia is a qualitative defect of fibrinogen caused by various mutations among three fibrinogen genes. Dysfibrinogenemia can be associated with an increased risk of thrombosis, bleeding, or both. Here, we …
View article: Insights into the Molecular Genetic of Hemophilia A and Hemophilia B: The Relevance of Genetic Testing in Routine Clinical Practice
Insights into the Molecular Genetic of Hemophilia A and Hemophilia B: The Relevance of Genetic Testing in Routine Clinical Practice Open
Hemophilia A and hemophilia B are rare congenital, recessive X-linked disorders caused by lack or deficiency of clotting factor VIII (FVIII) or IX (FIX), respectively. The severity of the disease depends on the reduction of coagulation FVI…
View article: Experiences in Routine Genetic Analysis of Hereditary Hemorrhagic, Thrombotic, and Platelet Disorders
Experiences in Routine Genetic Analysis of Hereditary Hemorrhagic, Thrombotic, and Platelet Disorders Open
Hemostasis is a complex and tightly regulated system that attempts to maintain a homeostatic balance to permit normal blood flow, without bleeding or thrombosis. Hemostasis reflects the subtle balance between procoagulant and anticoagulant…
View article: Investigating potential mechanisms underlying FVIII inhibition in acquired hemophilia A associated with mRNA COVID‐19 vaccines
Investigating potential mechanisms underlying FVIII inhibition in acquired hemophilia A associated with mRNA COVID‐19 vaccines Open
View article: Functional Characterization of Antithrombin Mutations by Monitoring of Thrombin Inhibition Kinetics
Functional Characterization of Antithrombin Mutations by Monitoring of Thrombin Inhibition Kinetics Open
Inactivation of thrombin by the endogenous inhibitor antithrombin (AT) is a central mechanism in the regulation of hemostasis. This makes hereditary AT deficiency, which is caused by SERPINC1 gene mutations, a major thrombophilic risk fact…
View article: Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients—A Single-Center Experience in Genetic Diagnosis
Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients—A Single-Center Experience in Genetic Diagnosis Open
Background: Familial multiple coagulation factor deficiencies (FMCFDs) are a group of inherited hemostatic disorders with the simultaneous reduction of plasma activity of at least two coagulation factors. As consequence, the type and sever…
View article: Further Evidence That MicroRNAs Can Play a Role in Hemophilia A Disease Manifestation: F8 Gene Downregulation by miR-19b-3p and miR-186-5p
Further Evidence That MicroRNAs Can Play a Role in Hemophilia A Disease Manifestation: F8 Gene Downregulation by miR-19b-3p and miR-186-5p Open
Hemophilia A (HA) is a F8 gene mutational disorder resulting in deficiency or dysfunctional FVIII protein. However, surprisingly, in few cases, HA is manifested even without mutations in F8. To understand this anomaly, we rec…
View article: Selective Modulation of the Protease Activated Protein C Using Exosite Inhibiting Aptamers
Selective Modulation of the Protease Activated Protein C Using Exosite Inhibiting Aptamers Open
Activated protein C (APC) is a serine protease with anticoagulant and cytoprotective activities. Nonanticoagulant APC mutants show beneficial effects as cytoprotective agents. To study, if such biased APC signaling can be achieved by APC-b…
View article: Clinical manifestation of hemophilia A in the absence of mutations in the <i>F8</i> gene that encodes FVIII: role of microRNAs
Clinical manifestation of hemophilia A in the absence of mutations in the <i>F8</i> gene that encodes FVIII: role of microRNAs Open
BACKGROUND Hemophilia A (HA) is associated with mutations in the F8 gene that expresses factor VIII (FVIII). Unexpectedly, HA also manifests in a small subset of individuals with no mutations (exonic or intronic) in their F8 gene. MicroRNA…
View article: Risk stratification integrating genetic data for factor VIII inhibitor development in patients with severe hemophilia A
Risk stratification integrating genetic data for factor VIII inhibitor development in patients with severe hemophilia A Open
Replacement therapy in severe hemophilia A leads to factor VIII (FVIII) inhibitors in 30% of patients. Factor VIII gene (F8) mutation type, a family history of inhibitors, ethnicity and intensity of treatment are established risk factors, …
View article: F8 Inversions at Xq28 Causing Hemophilia A Are Associated With Specific Methylation Changes: Implication for Molecular Epigenetic Diagnosis
F8 Inversions at Xq28 Causing Hemophilia A Are Associated With Specific Methylation Changes: Implication for Molecular Epigenetic Diagnosis Open
Diverse DNA structural variations (SVs) in human cancers and several other diseases are well documented. For genomic inversions in particular, the disease causing mechanism may not be clear, especially if the inversion border does not cros…
View article: An in silico and in vitro approach to elucidate the impact of residues flanking the cleavage scissile bonds of FVIII
An in silico and in vitro approach to elucidate the impact of residues flanking the cleavage scissile bonds of FVIII Open
Coagulation Factor VIII is activated by an ordered limited thrombin proteolysis with different catalytic efficiency at three P1 Arginine residues: Arg759> Arg1708>Arg391, indicating the flanking residues of the latter to be less optimal. T…
View article: Identification and functional characterization of a novel F5 mutation (Ala512Val, FVBonn) associated with activated protein C resistance
Identification and functional characterization of a novel F5 mutation (Ala512Val, FVBonn) associated with activated protein C resistance Open
View article: <i>F8</i> gene: embedded in a region of genomic instability representing a hotspot of complex rearrangements
<i>F8</i> gene: embedded in a region of genomic instability representing a hotspot of complex rearrangements Open
Haemophilia A (OMIM 306700), the deficiency of clotting factor VIII (FVIII), is caused by mutations in the F8 gene. The fairly large gene of F8 is located on the most distal band of the X chromosome (Xq28, chrX: 154 064 070–154 250 998, UC…