Jorge Di Paola
YOU?
Author Swipe
View article: Tumor necrosis factor-alpha (TNFα) drives pathologic platelet hyperreactivity through signaling on hematopoietic stem/progenitor cells and expansion of canonical megakaryocytic progenitors.
Tumor necrosis factor-alpha (TNFα) drives pathologic platelet hyperreactivity through signaling on hematopoietic stem/progenitor cells and expansion of canonical megakaryocytic progenitors. Open
Tumor necrosis factor-alpha (TNFα) has multiple roles for signaling inflammation and its two receptors, TNFαR1 and TNFαR2 exhibit alternative/competing signaling outcomes via continued cytokine production or cell death. The role of TNFɑ si…
View article: Integration of Cut&Run, atac-seq and RNA-seq analyses defines the impact of germline ETV6 mutations on chromatin binding and gene expression in megakaryocytes
Integration of Cut&Run, atac-seq and RNA-seq analyses defines the impact of germline ETV6 mutations on chromatin binding and gene expression in megakaryocytes Open
Germline mutations in ETV6 cause thrombocytopenia and predisposition to malignancies. ETV6 (ETS Variant 6) is a transcriptional repressor essential for embryonic development and bone marrow hematopoiesis. Several variants have been identif…
View article: Effect of age on ISTH-BAT scores and low VWF diagnosis in the Zimmerman Program
Effect of age on ISTH-BAT scores and low VWF diagnosis in the Zimmerman Program Open
An essential component of low von Willebrand factor (VWF)/type 1 von Willebrand disease (VWD) diagnosis is to identify patients with an increased bleeding phenotype, as most individuals with VWF levels in the 30 to 50 IU/dL range do not bl…
View article: Anomalous Water Fluorescence Induced by Solutes
Anomalous Water Fluorescence Induced by Solutes Open
The origin of recently reported anomalous fluorescence emissions from aqueous solutions of nonaromatic solutes remains elusive. To determine whether the solute nature influences the fluorescence characteristics and to identify a potential …
View article: LRRC8 complexes are ATP release channels that regulate platelet activation and arterial thrombosis
LRRC8 complexes are ATP release channels that regulate platelet activation and arterial thrombosis Open
Platelet shape and volume changes are early mechanical events contributing to platelet activation and thrombosis. Here, we identify single-nucleotide polymorphisms in leucine-rich repeat–containing 8 (LRRC8) protein subunits that form the …
View article: iMer, a naturally occurring MERTK splice variant, binds to GAS6 to decrease platelet activation and thrombus formation
iMer, a naturally occurring MERTK splice variant, binds to GAS6 to decrease platelet activation and thrombus formation Open
Unopposed platelet activation can be associated with pathologic thrombosis. An intact growth arrest-specific gene 6 (GAS6)/Mer receptor tyrosine kinase (MERTK) signaling pathway contributes importantly to potentiating platelet activation t…
View article: Clinical phenotype and pathophysiological mechanisms underlying qualitative low VWF
Clinical phenotype and pathophysiological mechanisms underlying qualitative low VWF Open
Previous reports have highlighted that some patients with low von Willebrand factor (VWF) with significant bleeding were diagnosed based on an isolated but persistent reduction in plasma VWF activity levels in the 30 to 50 IU/dL range. The…
View article: Nbeal2 knockout mice are not protected against hypoxia-induced pulmonary vascular remodeling and pulmonary hypertension
Nbeal2 knockout mice are not protected against hypoxia-induced pulmonary vascular remodeling and pulmonary hypertension Open
Inflammation drives the initiation and progression of pulmonary hypertension (PH). Platelets, increasingly recognized as immune cells, are activated and increased in the lungs of patients with PH. Platelet activation leads to the release o…
View article: Monocyte-Driven Aberrant Inflammation in Myeloproliferative Neoplasms Is Regulated By Galectin-1
Monocyte-Driven Aberrant Inflammation in Myeloproliferative Neoplasms Is Regulated By Galectin-1 Open
JDP and STO co-corresponding authors Previous studies by our group and others have elucidated a key role for monocytes in driving hyperinflammation in myeloproliferative neoplasms (MPNs). To further interrogate the cellular landscape of ab…
View article: Altered Calcium Signaling Via STIM1 Drives Aberrant Megakaryopoiesis and Myelofibrosis
Altered Calcium Signaling Via STIM1 Drives Aberrant Megakaryopoiesis and Myelofibrosis Open
Activating mutations in the calcium sensor STIM1 underlie Stormorken Syndrome (SS), a rare congenital disorder that causes thrombocytopenia and tubular aggregate myopathy. We recently identified two patients with SS and confirmed mutations…
View article: Association of human leucocyte antigen loci with vaccine‐induced immune thrombotic thrombocytopenia: Potential role of the interaction between platelet factor 4‐derived peptides and <scp>MHC</scp>‐<scp>II</scp>
Association of human leucocyte antigen loci with vaccine‐induced immune thrombotic thrombocytopenia: Potential role of the interaction between platelet factor 4‐derived peptides and <span>MHC</span>‐<span>II</span> Open
Summary No risk factors have been identified for vaccine‐induced immune thrombotic thrombocytopenia (VITT) so far. The aim of this study was to identify human leucocyte antigen (HLA) alleles potentially associated with VITT susceptibility.…
View article: A case report of an unprovoked neonatal pulmonary embolism: management strategies and cardiopulmonary complications
A case report of an unprovoked neonatal pulmonary embolism: management strategies and cardiopulmonary complications Open
Background Neonatal pulmonary embolism is a rare occurrence, especially when idiopathic, instead occurring in patients with identifiable risk factors including severe dehydration, presence or history of a central venous line, or identifiab…
View article: LRRC8 complexes are adenosine nucleotide release channels regulating platelet activation and arterial thrombosis
LRRC8 complexes are adenosine nucleotide release channels regulating platelet activation and arterial thrombosis Open
Platelet shape and volume changes are early mechanical events contributing to platelet activation and thrombosis. Here, we identify single-nucleotide polymorphisms in Leucine-Rich Repeat Containing 8 (LRRC8) protein subunits that form the …
View article: Next generation microfluidics: fulfilling the promise of lab-on-a-chip technologies
Next generation microfluidics: fulfilling the promise of lab-on-a-chip technologies Open
In this perspective article, we present the state of the microfluidic field regarding current limitations and propose future directions and new approaches for the field to advance lab-on-a-chip technologies closer to translation and clinic…
View article: Type 1 VWD classification revisited: novel insights from combined analysis of the LoVIC and WiN studies
Type 1 VWD classification revisited: novel insights from combined analysis of the LoVIC and WiN studies Open
There is significant ongoing debate regarding type 1 von Willebrand disease (VWD) defintion. Previous guidelines recommended patients with von Willebrand factor (VWF) levels <30 IU/dL be diagnosed type 1 VWD, whereas patients with signi…
View article: Multiomic profiling reveals metabolic alterations mediating aberrant platelet activity and inflammation in myeloproliferative neoplasms
Multiomic profiling reveals metabolic alterations mediating aberrant platelet activity and inflammation in myeloproliferative neoplasms Open
Platelets from patients with myeloproliferative neoplasms (MPNs) exhibit a hyperreactive phenotype. Here, we found elevated P-selectin exposure and platelet-leukocyte aggregates indicating activation of platelets from essential thrombocyth…
View article: Tissue Factor Pathway Inhibitor (TFPI) Beta and Gamma Isoforms Contribute to Bleeding in Hemophilia Mice
Tissue Factor Pathway Inhibitor (TFPI) Beta and Gamma Isoforms Contribute to Bleeding in Hemophilia Mice Open
Key Points: Expression of any single TFPI isoform (α, β, or γ) is sufficient for mouse survival.Two-Kunitz domain TFPI isoforms, anchored β and circulating γ, each contribute to hemophilia bleeding.In vivo, TFPIβ is a more potent anticoagu…
View article: Multiplexed Functional Assessment of Glanzmann Thrombasthenia Variants
Multiplexed Functional Assessment of Glanzmann Thrombasthenia Variants Open
High throughput genome and exome sequencing tests are used to identify disease-causing genetic variants, including those that cause inherited platelet disorders (IPDs) like Glanzmann Thrombasthenia (GT). However, most variants identified i…
View article: Age Regulates Desmopressin Responses in Patients with Low Von Willebrand Factor and Type 1 Von Willebrand Disease in the Lovic and Win Studies
Age Regulates Desmopressin Responses in Patients with Low Von Willebrand Factor and Type 1 Von Willebrand Disease in the Lovic and Win Studies Open
Introduction Desmopressin is the treatment of choice in many patients with Low VWF and type 1 VWD. However, not all patients respond well to desmopressin. Moreover, desmopressin is contra-indicated in patients > 60 years in some countri…
View article: OC 60.1 Delineating VonWillebrand Factor Genetic Variants in Patients with a Von Willebrand Disease Diagnosis
OC 60.1 Delineating VonWillebrand Factor Genetic Variants in Patients with a Von Willebrand Disease Diagnosis Open
Background: Von Willebrand disease (VWD) is a common inherited bleeding disorder often caused by variants within the von Willebrand factor (VWF) gene.Aims: To characterize candidate VWF variants in type 1, 2 and 3 VWD and elucidate pathoge…
View article: OC 13.5 Whole-Genome Characterization of Low-VWF and VWD Type 1 Patients with No Known Pathogenic VWF Variant Reveals Novel Genetic Associations
OC 13.5 Whole-Genome Characterization of Low-VWF and VWD Type 1 Patients with No Known Pathogenic VWF Variant Reveals Novel Genetic Associations Open
Background:The pegylated aptamer BT200 binds to the A1 domain of VWF and significantly prolongs VWF half-life in vivo.Although the mechanism(s) involved have not been defined, the LRP1 scavenger receptor binds to the VWF A1 domain and cont…
View article: Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities for mucocutaneous bleeding disorders
Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities for mucocutaneous bleeding disorders Open
Improving our understanding of the basic biology of MCB, large cohort longitudinal natural history studies, collaboration, and creative approaches to novel therapeutics will be important in maximizing the benefit of future research for the…