Blood Coagulation and Thrombosis Mechanisms

Hormone-induced thrombosis is mediated through non-canonical fibrin(ogen) aggregation and a novel estrogen target in zebrafish

Transcriptome Analysis Identified SPP1+ Monocytes as a Key in Extracellular Matrix Formation in Thrombi

The paper identifies SPP1+ monocytes as key to extracellular matrix formation in thrombi using RNA sequencing and single-cell RNA sequencing, suggesting therapeutic targets for antithrombotic strategies.

A genome wide search for non-additive allele effects identifies PSKH2 as involved in the variability of Factor V activity.

The paper identifies PSKH2 as a gene influencing variability in Factor V plasma activity through genome-wide analysis of non-additive allele effects.

KASP-PCR method to screen thrombophilia genetic risk factors

This study develops a KASP-PCR panel to detect thrombophilia-associated SNPs, finding that 86.5% of patients have at least one mutation and seven have three mutations.

Bone marrow-derived CCR5-expressing macrophages promote venous thrombus resolution by up-regulating plasminogen activators and VEGF

This study shows that CCR5-expressing macrophages in venous thrombi promote resolution by increasing VEGF and plasminogen activators, and that CCR5 deficiency impairs thrombus resolution.

Critical evaluation of kinetic schemes for coagulation

This study evaluates two coagulation cascade models against thrombin generation assays, showing that modifications are needed for accurate predictions in pathological conditions.

Antithrombin, protein C and protein S: Genome and transcriptome wide association studies identify 7 novel loci regulating plasma levels

Multi-ancestry GWAS for venous thromboembolism identifies novel loci followed by experimental validation in zebrafish

This study conducts a multi-ancestry GWAS for venous thromboembolism, identifies novel loci, and validates their function in zebrafish.

Systemic coagulopathy drives host lethality in a new Drosophila tumor model

This study shows that a Drosophila tumor model induces coagulopathy phenotypes similar to human patients, with hypercoagulation followed by hypocoagulation, and demonstrates that rescuing coagulopathy improves survival.

Non-invasive imaging of gene expression and protein secretion dynamics in living mice: identification of ectopic prothrombin expression as driver of thrombosis in cancer

This paper introduces a genetic tagging strategy to non-invasively image secretory protein dynamics in living mice, revealing ectopic prothrombin expression in tumors that contributes to thrombosis.

A novel rationale for targeting FXI: Insights from the hemostatic miRNA targetome for emerging anticoagulant strategies

The paper introduces a novel rationale for targeting factor XI using miRNA mimics to develop anticoagulants that avoid disrupting hemostasis.

Long-read sequencing resolves structural variants in SERPINC1 causing antithrombin deficiency and identifies a complex rearrangement and a retrotransposon insertion not characterized by routine diagnostic methods

This study uses long-read sequencing to identify and characterize structural variants in antithrombin deficiency cases that routine methods missed.

A novel rare c. -39C>T mutation in the PROS1 5'UTR causing PS deficiency by creating a new upstream translation initiation codon and inhibiting the production of the natural protein.

Elucidating mechanisms of genetic cross-disease associations: an integrative approach implicates protein C as a causal pathway in arterial and venous diseases

The paper identifies a genetic variant in PROCR that influences protein C and factor VII levels, linking it to both reduced coronary artery disease risk and increased venous thromboembolism risk through opposing inflammatory and thrombotic mechanisms.

Disruption of the kringle 1 domain of prothrombin leads to late onset mortality in zebrafish

This study shows that disrupting the kringle 1 domain of prothrombin in zebrafish causes late-onset mortality due to impaired clot formation, revealing its role in thrombin biosynthesis and activation.

Transferrin plays a central role to maintain coagulation balance by interacting with clotting factors

This study identifies transferrin as a clotting factor that modulates coagulation balance by interacting with clotting factors and antithrombin III, with implications for atherosclerosis.

Analysis of factor V in zebrafish demonstrates minimal levels needed for hemostasis and risk stratifies human variants

The paper studies zebrafish factor V mutants to determine minimal hemostasis requirements and evaluates human F5 variants for their residual function.

Thrombin cleaves and activates the protease-activated receptor 2 dependent on thrombomodulin co-receptor availability

This study shows thrombin cleaves PAR2 in a TM-dependent manner, leading to NF-κB activation and interleukin-8 release, suggesting a pro-inflammatory role for TM.

Whole exome sequencing of ENU-induced thrombosis modifier mutations in the mouse

The paper identifies a de novo mutation in Plcb4 that suppresses thrombosis in mice with Factor V Leiden and tissue factor pathway inhibitor mutations.

A sensitized mutagenesis screen in Factor V Leiden mice identifies novel thrombosis suppressor loci

The paper identifies novel thrombosis suppressor loci using a sensitized mutagenesis screen in Factor V Leiden mice, finding F8 and the Tfpi/F3 axis, as well as Actr2, play key roles in thrombosis regulation.