J. Di Paola

发表

A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2.

L. Noetzli, P. Sanz, G. Brodsky, 2014, Gene.

Mutations in the D'D3 region of VWF traditionally associated with type 1 VWD lead to quantitative and qualitative deficiencies of VWF.

J. Di Paola, C. Ng, S. Haberichter, 2016, Thrombosis research.

Making a diagnosis of VWD.

J. Di Paola, B. Branchford, 2012, Hematology. American Society of Hematology. Education Program.

Microfluidic technology as an emerging clinical tool to evaluate thrombosis and hemostasis.

J. Di Paola, K. Neeves, B. Branchford, 2015, Thrombosis research.

Sources of Variability in Platelet Accumulation on Type 1 Fibrillar Collagen in Microfluidic Flow Assays

Andrew T. Irish, Keith B. Neeves, G. Brodsky, 2013, PloS one.

TNF-alpha driven inflammation and mitochondrial dysfunction define the platelet hyperreactivity of aging.

Robert A. Campbell, Kenneth L. Jones, E. Pietras, 2019, Blood.

Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel.

Kristy Lee, Minjie Luo, P. Bray, 2021, Blood advances.

Negatively charged nanoparticles of multiple materials inhibit shear-induced platelet accumulation.

D. Ku, J. Di Paola, K. Ashworth, 2021, Nanomedicine : nanotechnology, biology, and medicine.

Pathologic Shear and Elongation Rates Do Not Cause Cleavage of Von Willebrand Factor by ADAMTS13 in a Purified System

J. Di Paola, K. Neeves, David Bark, 2020, Cellular and Molecular Bioengineering.

Diagnostic approach to von Willebrand disease.

D. Motto, J. Di Paola, C. Ng, 2015, Blood.

A mathematical model of coagulation under flow identifies factor V as a modifier of thrombin generation in hemophilia A

Michael T. Stobb, Kathryn G. Link, A. Fogelson, 2020, Journal of thrombosis and haemostasis : JTH.

A mathematical model of flow-mediated coagulation identifies factor V as a modifier of thrombin generation in hemophilia A

Michael T. Stobb, Kathryn G. Link, A. Fogelson, 2018, bioRxiv.

Dysregulated coagulation associated with hypofibrinogenaemia and plasma hypercoagulability: Implications for identifying coagulopathic mechanisms in humans

Robert A. Campbell, N. Mackman, R. Pawlinski, 2012, Thrombosis and Haemostasis.

Illustrated State‐of‐the‐Art Capsules of the ISTH 2019 Congress in Melbourne, Australia

C. Maas, L. Rauova, J. Eikelboom, 2019, Research and practice in thrombosis and haemostasis.

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia

Christopher C. Porter, Michael Doubek, Kenneth Jones, 2015, Nature Genetics.

ETV6 germline mutations cause HDAC3/NCOR2 mislocalization and upregulation of interferon response genes

Kenneth L. Jones, E. Pietras, A. Gutierrez-Hartmann, 2020, JCI insight.

J. Di Paola, Marlie H. Fisher, 2020, Platelets.

Abnormal megakaryocyte development and platelet function in Nbeal2(-/-) mice.

C. Hawkins, A. Weyrich, J. Di Paola, 2013, Blood.

NBEAL2 mutations and bleeding in patients with gray platelet syndrome

M. Carcao, J. Di Paola, W. Kahr, 2018, Platelets.

A local and global sensitivity analysis of a mathematical model of coagulation and platelet deposition under flow

Michael T. Stobb, Kathryn G. Link, A. Fogelson, 2018, PloS one.

The Effect of Factor VIII Deficiencies and Replacement and Bypass Therapies on Thrombus Formation under Venous Flow Conditions in Microfluidic and Computational Models

A. Fogelson, J. Di Paola, K. Neeves, 2013, PloS one.

Discovery of Mer specific tyrosine kinase inhibitors for the treatment and prevention of thrombosis.

S. Frye, W. Janzen, M. Machius, 2013, Journal of medicinal chemistry.

Bleeding assessment tools in the diagnosis of VWD in adults and children: a systematic review and meta-analysis of test accuracy

R. Mustafa, J. Eikenboom, R. Montgomery, 2021, Blood advances.

ReFacto® 1 and Advate® 2 : a single‐dose, randomized, two‐period crossover pharmacokinetics study in subjects with haemophilia A

P. Mannucci, M. Morfini, C. Kessler, 2007, Haemophilia : the official journal of the World Federation of Hemophilia.

One over PAR or one under PAR: vive la différence.

P. Bray, J. Di Paola, 2018, Blood.

Increased galactose expression and enhanced clearance in patients with low von Willebrand factor.

Kenneth L. Jones, P. James, J. Di Paola, 2019, Blood.

Molecular pathogenesis and heterogeneity in type 3 VWD families in U.S. Zimmerman program

D. Bellissimo, R. Montgomery, P. Christopherson, 2022, Journal of thrombosis and haemostasis : JTH.

Isotopically nonstationary 13C metabolic flux analysis in resting and activated human platelets.

Alex J. Metcalf, Nanette R. Boyle, J. Di Paola, 2021, Metabolic engineering.

Isotopically Nonstationary 13C Metabolic Flux Analysis in Resting and Activated Human Platelets

Alex J. Metcalf, Nanette R. Boyle, J. Di Paola, 2021, bioRxiv.

Apolipoprotein A-I, elevated in trauma patients, inhibits platelet activation and decreases clot strength

C. Silliman, A. Banerjee, J. Di Paola, 2022, Platelets.

Significant gynecological bleeding in women with low von Willebrand factor levels.

P. James, J. Di Paola, N. O'Connell, 2018, Blood advances.

von Willebrand Disease: Diagnostic Strategies and Treatment Options.

J. Di Paola, C. Ng, 2018, Pediatric clinics of North America.

Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels.

Kenneth L. Jones, P. James, J. Di Paola, 2017, Blood.

Platelet‐dependent von Willebrand factor activity. Nomenclature and methodology: communication from the SSC of the ISTH

J. Eikenboom, R. Montgomery, J. Di Paola, 2015, Journal of thrombosis and haemostasis : JTH.

FVIII/VWF ratio is not a reliable predictor of VWD in children

J. Di Paola, M. Manco‐Johnson, B. Branchford, 2014, Pediatric blood & cancer.

Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?

T. Shaikh, A. Bassuk, B. Darbro, 2014, Tremor and other hyperkinetic movements.

Critical role for the mitochondrial permeability transition pore and cyclophilin D in platelet activation and thrombosis.

J. Molkentin, J. Di Paola, S. Lentz, 2008, Blood.

Evaluation of thromboelastography for monitoring recombinant activated factor VII ex vivo in haemophilia A and B patients with inhibitors: a multicentre trial

C. Négrier, B. Konkle, D. Viuff, 2008, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

von Willebrand disease: proposing definitions for future research.

R. Mustafa, M. Ozelo, S. O’Brien, 2021, Blood advances.

Recombinant factor IX for clinical and research use.

P. Monahan, J. Di Paola, 2010, Seminars in thrombosis and hemostasis.

Prophylactic efficacy and pharmacokinetically guided dosing of a von Willebrand factor/factor VIII concentrate in adults and children with von Willebrand's disease undergoing elective surgery: a pooled and comparative analysis of data from USA and European Union clinical trials.

P. Kyrle, J. Cox Gill, J. Di Paola, 2013, Blood transfusion = Trasfusione del sangue.

Platelet type von Willebrand disease and registry report: communication from the SSC of the ISTH

M. Othman, J. Di Paola, P. Gresele, 2016, Journal of thrombosis and haemostasis : JTH.

Effects of anti‐β2GPI antibodies on VWF release from human umbilical vein endothelial cells and ADAMTS13 activity

K. McCrae, J. Di Paola, M. Manco‐Johnson, 2018, Research and practice in thrombosis and haemostasis.

Hemostasis vs. homeostasis: Platelets are essential for preserving vascular barrier function in the absence of injury or inflammation

Shuchi Gupta, B. Nieswandt, J. Ware, 2020, Proceedings of the National Academy of Sciences.

Application of current knowledge to the management of bleeding events during immune tolerance induction

C. Leissinger, C. Kempton, M. Carcao, 2006, Haemophilia : the official journal of the World Federation of Hemophilia.

Strengthening the Potential of Genetic Diagnoses: A Conversation With Drs. Lucy Godley and Jorge Di Paola

J. Di Paola, L. Godley, L. Michaelis, 2020 .

Immune thrombocytopenic purpura.

J. Di Paola, G. Buchanan, George R. Buchanan, 2002, Pediatric clinics of North America.

Peptides derived from MARCKS block coagulation complex assembly on phosphatidylserine

H. Yin, L. Brass, G. Brodsky, 2017, Scientific Reports.

Tissue factor signals airway epithelial basal cell survival via coagulation and protease-activated receptor isoforms 1 and 2.

R. Rancourt, Aftab Ahmad, Shama Ahmad, 2013, American journal of respiratory cell and molecular biology.

Management of elective procedures in low von Willebrand factor patients in the LoVIC study

P. James, J. Di Paola, A. Dougall, 2020, Journal of thrombosis and haemostasis : JTH.

Loss of fibrinogen in zebrafish results in an asymptomatic embryonic hemostatic defect and synthetic lethality with thrombocytopenia

Andy H. Vo, J. Shavit, J. Di Paola, 2019, Journal of thrombosis and haemostasis : JTH.

Chitinase 3‐like‐1 promotes intrahepatic activation of coagulation through induction of tissue factor in mice

Liangguo Xu, J. Di Paola, J. Elias, 2018, Hepatology.

Tamoxifen Suppresses Platelet Activation-Supported Angiogenesis and Metastasis.

J. Di Paola, P. Davizon-Castillo, 2017, Arteriosclerosis, thrombosis, and vascular biology.

Platelet α-granules are required for occlusive high-shear-rate thrombosis.

D. Ku, J. Di Paola, K. Ashworth, 2020, Blood advances.

Identification and characterization of novel mutations implicated in congenital fibrinogen disorders

C. Thornburg, L. Noetzli, J. Di Paola, 2018, Research and practice in thrombosis and haemostasis.

Evaluation of a microfluidic flow assay to screen for von Willebrand disease and low von Willebrand factor levels

J. Di Paola, K. Neeves, M. Manco‐Johnson, 2018, Journal of thrombosis and haemostasis : JTH.

Role of the adapter protein SLP-76 in GPVI-dependent platelet procoagulant responses to collagen.

G. Koretzky, J. Di Paola, S. Lentz, 2002, Blood.

Role of FcRgamma and factor XIIIA in coated platelet formation.

T. Ratliff, J. Di Paola, G. Dickneite, 2005, Blood.

Microangiopathic hemolytic anemia due to ADAMTS‐13 loss in idiopathic systemic capillary leak syndrome: reply

J. Di Paola, D. Moreira, D. C. Moreira, 2017, Journal of thrombosis and haemostasis : JTH.

Presurgical pharmacokinetic analysis of a von Willebrand factor/factor VIII (VWF/FVIII) concentrate in patients with von Willebrand’s disease (VWD) has limited value in dosing for surgery

P. Mannucci, S. Lethagen, J. Gill, 2011, Haemophilia : the official journal of the World Federation of Hemophilia.

Peripheral blood mononuclear cell tissue factor (F3 gene) transcript levels and circulating extracellular vesicles are elevated in severe coronavirus 2019 (COVID-19) disease

Carlos Cruchaga, J. Di Paola, G. Randolph, 2022, Journal of Thrombosis and Haemostasis.

SHPing in different directions in platelet production.

J. Di Paola, 2013, Blood.

The safety and efficacy of recombinant human blood coagulation factor IX in previously untreated patients with severe or moderately severe hemophilia B.

V. Blanchette, C. Rothschild, C. Négrier, 2005, Blood.

Product selection issues in the management of hemophilia B.

J. Di Paola, 2004, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

Evaluation for Bleeding Disorders in Suspected Child Abuse.

P. Leavey, S. Downs, E. Mendonça, 2018, Pediatrics.

New developments in the treatment of pediatric hemophilia and bleeding disorders

P. Monahan, J. Di Paola, B. Branchford, 2013, Current opinion in pediatrics.

Current therapy for rare factor deficiencies

J. Di Paola, G. Young, D. Nugent, 2001, Haemophilia : the official journal of the World Federation of Hemophilia.

ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease.

R. Mustafa, B. Konkle, J. Eikenboom, 2021, Blood advances.

Common VWF exon 28 polymorphisms in African Americans affecting the VWF activity assay by ristocetin cofactor.

R. Hoffmann, C. Leissinger, P. Morateck, 2010, Blood.

Factor XIII activity mediates red blood cell retention in venous thrombi.

W. Lam, N. Mackman, J. Di Paola, 2014, Journal of Clinical Investigation.

Antithrombin deficiency: A pediatric disorder.

J. Armstrong, J. Di Paola, M. Manco‐Johnson, 2021, Thrombosis research.

Spontaneous 8bp Deletion in Nbeal2 Recapitulates the Gray Platelet Syndrome in Mice

L. Reinholdt, R. Westrick, K. Tomberg, 2016, PloS one.

Low platelet alpha2beta1 levels in type I von Willebrand disease correlate with impaired platelet function in a high shear stress system.

P. Mannucci, J. Di Paola, A. Federici, 1999, Blood.

Platelet clearance via shear-induced unfolding of a membrane mechanoreceptor

David S. Paul, Yan Xu, Renhao Li, 2016, Nature Communications.

Platelet glycoprotein Ibα and integrin α2β1 polymorphisms: gene frequencies and linkage disequilibrium in a population diversity panel

A. Jugessur, J. Di Paola, J. Reiland, 2005, Journal of thrombosis and haemostasis : JTH.

Thrombocytopenias due to gray platelet syndrome or THC2 mutations.

J. Di Paola, Janet W Johnson, 2011, Seminars in thrombosis and hemostasis.

Genomics and transcriptomics of megakaryocytes and platelets: Implications for health and disease

J. Di Paola, Marlie H. Fisher, 2018, Research and practice in thrombosis and haemostasis.

Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly.

Jesse Hinckley, J. Di Paola, Gi-Yung Ryu, 2011, Blood.

J. Di Paola, C. Porter, 2019, Blood.

Variable content of von Willebrand factor mutant monomer drives the phenotypic variability in a family with von Willebrand disease.

Junmei Chen, R. Montgomery, Jesse Hinckley, 2015, Blood.

SVEP1 is an endogenous ligand for the orphan receptor PEAR1

N. Stitziel, R. Mecham, J. Di Paola, 2023, Nature Communications.

Breakpoint of a balanced translocation (X:14) (q27.1;q32.3) in a girl with severe hemophilia B maps proximal to the factor IX gene

S. Patil, J. Di Paola, Q. Qian, 2004, Journal of thrombosis and haemostasis : JTH.

Quantitative trait locus linkage analysis in a large Amish pedigree identifies novel candidate loci for erythrocyte traits

T. Burns, D. Abbott, J. Di Paola, 2013, Molecular genetics & genomic medicine.

The ENTPD1 promoter polymorphism −860 A > G (rs3814159) is associated with increased gene transcription, protein expression, CD39/NTPDase1 enzymatic activity, and thromboembolism risk

K. Moreau, C. Aquilante, U. Broeckel, 2017, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

GAS6/TAM Pathway Signaling in Hemostasis and Thrombosis

J. Di Paola, B. Branchford, D. Graham, 2018, Front. Med..

Antiplatelet Effect of Ketorolac in Children After Congenital Cardiac Surgery

J. Kaufman, J. Di Paola, M. Manco‐Johnson, 2018, World journal for pediatric & congenital heart surgery.

Biologic response to subcutaneous and intranasal therapy with desmopressin in a large Amish kindred with Type 2M von Willebrand disease

J. Di Paola, A. Shapiro, A. Greist, 2008, Haemophilia : the official journal of the World Federation of Hemophilia.

Genetic basis of congenital platelet disorders.

J. Di Paola, Jesse D. Hinckley, 2014, Hematology. American Society of Hematology. Education Program.

Characterization of collagen thin films for von Willebrand factor binding and platelet adhesion.

Keith B Neeves, J. Di Paola, K. Neeves, 2011, Langmuir : the ACS journal of surfaces and colloids.

Glanzmann thrombasthenia: genetic basis and clinical correlates

Kristy Lee, Minjie Luo, P. Bray, 2020, Haematologica.

Diagnostic approach to the patient with a suspected inherited platelet disorder: Who and how to test

J. Di Paola, J. Perez Botero, 2021, Journal of thrombosis and haemostasis : JTH.

Whole-exome analysis of adolescents with low VWF and heavy menstrual bleeding identifies novel genetic associations

S. O’Brien, J. Di Paola, C. Minard, 2021, Blood advances.

Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities for mucocutaneous bleeding disorders

B. Konkle, J. Di Paola, K. Neeves, 2023, Expert review of hematology.

SVEP1 is an endogenous ligand for the orphan receptor PEAR1

N. Stitziel, R. Mecham, J. Di Paola, 2023, Nature Communications.

Turbulent Flow Promotes Cleavage of VWF (von Willebrand Factor) by ADAMTS13 (A Disintegrin and Metalloproteinase With a Thrombospondin Type-1 Motif, Member 13).

Nathan C. Crawford, J. Di Paola, K. Neeves, 2019, Arteriosclerosis, thrombosis, and vascular biology.

von Willebrand factor antigen levels are associated with burden of rare nonsynonymous variants in the VWF gene

R. Montgomery, P. Christopherson, J. Di Paola, 2021, Blood.

Multiomic Profiling Reveals Metabolic Alterations Mediating Aberrant Platelet Activity and Inflammation in Myeloproliferative Neoplasms

S. Sykes, J. Di Paola, S. Oh, 2022, bioRxiv.

Platelet activation contributes to hypoxia-induced inflammation.

R. Tuder, K. Stenmark, J. Di Paola, 2020, American journal of physiology. Lung cellular and molecular physiology.

Pro-inflammatory cytokine blockade attenuates myeloid expansion in a murine model of rheumatoid arthritis

Jason R. Myers, E. Pietras, Jennifer L. Rabe, 2019, Haematologica.

Editor’s Highlight: Pulmonary Vascular Thrombosis in Rats Exposed to Inhaled Sulfur Mustard

R. Rancourt, C. White, J. Di Paola, 2017, Toxicological sciences : an official journal of the Society of Toxicology.

Platelets join the world of "Omics".

J. Di Paola, Beth Boulden Warren, 2014, Blood.

Variable bleeding phenotype in an Amish pedigree with von Willebrand disease

J. Di Paola, A. Shapiro, N. Duncan, 2016, American journal of hematology.

Multiomic profiling reveals metabolic alterations mediating aberrant platelet activity and inflammation in myeloproliferative neoplasms

S. Sykes, J. Di Paola, K. Ashworth, 2023, bioRxiv.

The small‐molecule MERTK inhibitor UNC2025 decreases platelet activation and prevents thrombosis

S. Frye, X. Wang, H. Earp, 2018, Journal of thrombosis and haemostasis : JTH.

Platelet abnormalities in a family with von Willebrand disease type 2B (V1316M) and association with bleeding score

J. Di Paola, T. White-Adams, N. Smith, 2016, Haemophilia : the official journal of the World Federation of Hemophilia.

Interleukin-7 Reverses Lymphopenia and Improves T-Cell Function in Coronavirus Disease 2019 Patient With Inborn Error of Toll-Like Receptor 3: A Case Report

R. Hotchkiss, L. Moldawer, S. Brakenridge, 2021, Critical care explorations.

No increase in bleeding identified in type 1 VWD subjects with D1472H sequence variation.

R. Hoffmann, C. Leissinger, R. Montgomery, 2013, Blood.

Heterogeneity in the half-life of factor VIII concentrate in patients with hemophilia A is due to variability in the clearance of endogenous von Willebrand factor.

J. Johnsen, P. Fallon, J. Di Paola, 2023, Journal of thrombosis and haemostasis : JTH.

Glanzmann thrombasthenia: Genetic basis and clinical correlates

Kristy Lee, Minjie Luo, P. Bray, 2020 .

Single Cell Transcriptional Analysis of Human Endothelial Colony Forming Cells from Patients with Low VWF Levels.

J. Di Paola, R. Vibhakar, S. Venkataraman, 2022, Blood.

The application of genetics to inherited bleeding disorders

P. James, J. Di Paola, 2010, Haemophilia : the official journal of the World Federation of Hemophilia.