Topic · Hematology · Medicine

Hemophilia Treatment and Research

OpenAlex topic; a paper is listed when OpenAlex scores it at least 0.5 for this topic.

5 papers

Multiplex, multimodal mapping of variant effects in secreted proteins

Nicholas A. Popp, Rachel L. Powell, Melinda K. Wheelock, Kristen J. Holmes, Brendan D. Zapp, Kathryn M. Sheldon, Shelley Nakaya Fletcher, Xiaoping Wu, Shawn Fayer, Alan F. Rubin, Kerry W Lannert, Alexis T. Chang, John P. Sheehan, Jill M. Johnsen, Douglas M. Fowler

The paper introduces MultiSTEP, a method to assess variant effects in secreted proteins, and applies it to coagulation factor IX, identifying functional variants and reclassifying uncertain ones.

bioRxiv · Apr 1, 2024 · PreprintGenomics

Loss of factor VIII in zebrafish rebalances antithrombin deficiency but has a limited bleeding diathesis

Catherine E. Richter, Azhwar Raghunath, Megan S Griffin, Murat Yaman, Valder R. Arruda, Benjamin J. Samelson‐Jones, Jordan A. Shavit

The paper shows that loss of FVIII in zebrafish reduces antithrombin deficiency but does not significantly cause bleeding, suggesting a unique hemostatic balance.

bioRxiv · Feb 28, 2024 · PreprintGenetics

FVIII interacts with cell surface to regulate endothelial cell functionality

Cristina Olgasi, Alessia Cucci, Ivan Molineris, Simone Assanelli, Francesca Anselmi, Chiara Borsotti, Chiara Sgromo, Andrea Lauria, Simone Merlin, Gillian Elisabeth Walker, Paola Capasso, Salvatore Oliviero, Antonia Follenzi

This study shows FVIII regulates endothelial cell functionality and vessel stability, with therapeutic potential in haemophilia A.

bioRxiv · Oct 19, 2023 · PreprintMolecular Biology

Rescue of blood coagulation Factor VIII exon-16 mis-splicing by antisense oligonucleotides

Victor Tse, Guillermo Chacaltana, Martin E Gutierrez, Nicholas M. Forino, Arcelia Gonzalez Jimenez, Hanzhang Tao, H. Phong, Catherine Oh, Priyanka Chary, Isabel Quesada, Antonia Hamrick, Sophie Hyesuk Lee, Michael D. Stone, Jeremy R. Sanford

The paper identifies a three-way junction structure in intron 15 that affects F8 pre-mRNA splicing and shows that antisense oligonucleotides targeting this structure can rescue splicing defects in Hemophilia A.

bioRxiv · Mar 31, 2023 · PreprintMolecular Biology

A Differentially Methylated CpG Site in the IL4 Gene Associated with Anti-FVIII Inhibitor Antibody Development in Hemophilia A

Thiago Barbosa de Souza, Thaís Louvain de Souza, Cristina dos Santos Ferreira, Cleiton Figueiredo Osório da Silva, Liliana Carmen Rossetti, Vanina Daniela Marchione, Carlos Daniel De Brasi, Enrique Medina‐Acosta

bioRxiv · Feb 14, 2019 · PreprintGenetics