Explanipedia

Comparative microfluidic and enzymatic analyses reveal multifaceted snake venom resistance and novel VWF behavior in the opossum Monodelphis domestica Open

Matthew L. Holding, Dante Disharoon, Laura M. Haynes, Bipin Chakravarthy Paruchuri, M. Hao Hao Pontius , et al. · 2025

Interactions between predators and prey are often characterized by strong selection pressures that shape extreme physiological adaptations. Venom resistance in large-bodied South American opossums (Clade Didelphini) is a striking example, …

Not dead yet: GWAS insights into a common bleeding disorder Open

Karl C. Desch · 2025

Multipopulation GWAS for venous thromboembolism identifies novel loci followed by experimental validation in zebrafish Open

Brooke N. Wolford, Yakun Zhao, Kuan-Han Wu, Xinge Yu, Catherine E. Richter , et al. · 2025

Venous thromboembolisms (VTEs) are a leading cause of morbidity and mortality. Although many genetic risk factors have been identified, a substantial portion of the heritability remains unexplained. In this study, we employed a genome-wide…

Genome-wide association and linkage analysis of histidine-rich glycoprotein identifies common variants associated with plasma histidine-rich glycoprotein concentrations Open

Mary Underwood, Ayse Bilge Ozel, Tanay Deepak, Beth McGee, D. R. Siemieniak , et al. · 2025

A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels Open

Paul S. de Vries, Paula Reventún, Michael R. Brown, Adam S. Heath, Jennifer E. Huffman , et al. · 2025

Coagulation factor VIII (FVIII) and its carrier protein von Willebrand factor (VWF) are critical to coagulation and platelet aggregation. We leveraged whole-genome sequence data from the Trans-Omics for Precision Medicine (TOPMed) program …

Species-specific, multifaceted venom resistance inMonodelphis domesticareveals novel physiological behavior of von Willebrand Factor under flow Open

Matthew L. Holding, Dante Disharoon, Laura M. Haynes, Bipin Chakravarthy Paruchuri, M. Hao Hao Pontius , et al. · 2025

Interactions between predators and prey are often characterized by strong selection pressures that shape extreme physiological adaptations. Venom resistance in large-bodied South American opossums (Clade Didelphini) is a striking example, …

Neonatal Encephalopathy Open

Anastasia Ambrose, Vanda McNiven, Diane Wilson, Aleksandra Tempes, Mary Underwood , et al. · 2025

The diagnostic rate of research GS was 41% in our prospective study. We broaden the phenotypic spectrum of PPP2R5D-associated Hogue-Janssens syndrome 1, CFL2-associated nemaline myopathy 7, and BCOR-associated oculo-fa…

Venous thromboembolic disease genetics: from variants to function Open

Mary Underwood, Clint R. Bidlack, Karl C. Desch · 2024

A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels Open

Paul S. de Vries, Paula Reventún, Michael R. Brown, Adam S. Heath, Jennifer E. Huffman , et al. · 2024

Coagulation factor VIII (FVIII) and its carrier protein von Willebrand factor (VWF) are critical to coagulation and platelet aggregation. We leveraged whole-genome sequence data from the Trans-Omics for Precision Medicine (TOPMed) program …

A multitrait genetic study of hemostatic factors and hemorrhagic transformation after stroke treatment Open

Cristina Gallego-Fábrega, Gerard Temprano‐Sagrera, Jara Cárcel‐Márquez, Elena Muiño, Natàlia Cullell , et al. · 2023

OC 09.5 Identification and Validation of Novel Stabilin-2 Plasma Ligands Open

Martin Underwood, K. Golden, Karl C. Desch · 2023

Results: Eight common genetic variants associated with C1-inhibitor levels were identified.No association was found between genetically proxied C1inhibitor levels and deep venous thrombosis or venous thromboembolism in both primary (FinnGe…

LDL vs HDL: a sticky situation Open

Karl C. Desch · 2023

In this issue of Blood, Chung et al compare and contrast the effects of plasma low-density lipoprotein (LDL) and high-density lipoprotein (HDL) on von Willebrand factor (VWF) self-association and demonstrate increased hypercoagulable forms…

Illustrated State-of-the-Art Capsules of the ISTH 2023 Congress Open

Susan R. Kahn, Donald M. Arnold, Caterina Casari, Karl C. Desch, Katrien Devreese , et al. · 2023

Antithrombin, Protein C, and Protein S: Genome and Transcriptome-Wide Association Studies Identify 7 Novel Loci Regulating Plasma Levels Open

Yuekai Ji, Gerard Temprano‐Sagrera, Lori A. Holle, Allison Bebo, Jennifer A. Brody , et al. · 2023

Background: Antithrombin, PC (protein C), and PS (protein S) are circulating natural anticoagulant proteins that regulate hemostasis and of which partial deficiencies are causes of venous thromboembolism. Previous genetic association studi…

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

Yuekai Ji, Gerard Temprano‐Sagrera, Lori A. Holle, Allison Bebo, Jennifer A. Brody , et al. · 2022

Objective Antithrombin, protein C (PC) and protein S (PS) are circulating natural-anticoagulant proteins that regulate hemostasis and of which partial deficiencies are causes of venous thromboembolism. Previous genetic association studies …

Increased soluble urokinase plasminogen activator levels modulate monocyte function to promote atherosclerosis Open

George Hindy, Daniel J. Tyrrell, Alexi Vasbinder, Changli Wei, Feriel Presswalla , et al. · 2022

People with kidney disease are disproportionately affected by atherosclerosis for unclear reasons. Soluble urokinase plasminogen activator receptor (suPAR) is an immune-derived mediator of kidney disease, levels of which are strongly assoc…

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

Brooke N. Wolford, Yakun Zhao, Ida Surakka, Kuan-Han H. Wu, Xinge Yu , et al. · 2022

SUMMARY Genome wide association study (GWAS) results for Venous Thromboembolism (VTE) across 9 international cohorts of the Global Biobank Meta-analysis Initiative (GBMI), with representation across six ancestry groups (cases=27,987, contr…

Publisher Correction: Elucidating mechanisms of genetic cross-disease associations at the PROCR vascular disease locus Open

David Stacey, Lingyan Chen, Paulina J. Stanczyk, Joanna M. M. Howson, Amy M. Mason , et al. · 2022

Multi‐phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations Open

Gerard Temprano‐Sagrera, Colleen M. Sitlani, William P. Bone, Miguel Martín‐Bórnez, Benjamin F. Voight , et al. · 2022

Elucidating mechanisms of genetic cross-disease associations at the PROCR vascular disease locus Open

David Stacey, Lingyan Chen, Paulina J. Stanczyk, Joanna M. M. Howson, Amy M. Mason , et al. · 2022

eP249: Practical implementation of inpatient rapid comprehensive sequencing for critically ill pediatric patients Open

Christina Sloan-Heggen, Amanda Barone Pritchard, John Barks, Louis T. Dang, Karl C. Desch , et al. · 2022

FGL1 as a modulator of plasma D‐dimer levels: Exome‐wide marker analysis of plasma tPA, PAI‐1, and D‐dimer Open

Florian Thibord, Ci Song, Jack Pattee, Benjamin A.T. Rodriguez, Ming‐Huei Chen , et al. · 2021

Decision letter: An agnostic study of associations between ABO and RhD blood group and phenome-wide disease risk Open

Karl C. Desch · 2021

Article Figures and data Executable code Abstract eLife digest Introduction Materials and methods Results Discussion Data availability References Decision letter Author response Article and author information Metrics Abstract Background: T…

Of Pea Plants and Platelets Open

Karl C. Desch · 2020

The Endoplasmic Reticulum Cargo Receptor SURF4 Facilitates Efficient Erythropoietin Secretion Open

Zesen Lin, Richard A. King, Vi T. Tang, Greggory Myers, Ginette Balbin-Cuesta , et al. · 2020

Erythropoietin (EPO) stimulates erythroid differentiation and maturation. Though the transcriptional regulation of EPO has been well studied, the molecular determinants of EPO secretion remain unknown. Here, we generated a HEK293T reporter…

Whole-exome sequencing identifies rare variants in STAB2 associated with venous thromboembolic disease Open

Karl C. Desch, Ayse Bilge Ozel, Matthew Halvorsen, Paula M. Jacobi, Krista Golden , et al. · 2020

Deep vein thrombosis and pulmonary embolism, collectively defined as venous thromboembolism (VTE), are the third leading cause of cardiovascular death in the United States. Common genetic variants conferring increased varying degrees of VT…

Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis Open

Frank J.A. van Rooij, Rehan Qayyum, Albert V. Smith, Yi Zhou, Stella Trompet , et al. · 2020

Accession Numbers Summary data have been deposited in the database of Genotypes and Phenotypes (dbGaP) under CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology) Consortium Summary Results from Genomic Studies. The dbGaP s…

Markers of Endothelial Dysfunction and Cytokines in High-Risk Pediatric Patients with Severe Sepsis Open

Erin F. Carlton, Walker McHugh, Kelli McDonough, Julie Sturza, Karl C. Desch , et al. · 2019

Genome‐wide linkage analysis and whole‐exome sequencing identifies an ITGA2B mutation in a family with thrombocytopenia Open

Rami Khoriaty, Ayse Bilge Ozel, Shweta Ramdas, Charles W. Ross, Karl C. Desch , et al. · 2019

Summary Hereditary thrombocytopenias can be subclassified based on mode of inheritance and platelet size. Here we report a family with autosomal dominant ( AD ) thrombocytopenia with normal platelet size. Linkage analysis and whole exome s…

Tuning the Thromboinflammatory Response to Venous Flow Interruption by the Ectonucleotidase CD39 Open

Anuli C. Anyanwu, Yogendra Kanthi, Keigo Fukase, Hui Liao, Tekashi Mimura , et al. · 2019

Objective— Leukocyte flux contributes to thrombus formation in deep veins under pathological conditions, but mechanisms that inhibit venous thrombosis are incompletely understood. Ectonucleotide di(tri)phosphohydrolase 1 ( ENTPD1 or Cd39 )…

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