Genomes and Genes
Jorge Di Paola
Affiliation: University of Iowa
- Application of current knowledge to the management of bleeding events during immune tolerance inductionJ Di Paola
Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA
Haemophilia 12:591-7. 2006....
- Breakpoint of a balanced translocation (X:14) (q27.1;q32.3) in a girl with severe hemophilia B maps proximal to the factor IX geneJ Di Paola
Department of Pediatrics, University of Iowa, Iowa City, IA, USA
J Thromb Haemost 2:437-40. 2004..Since the FIX gene seems to be intact in the derivative 14, the breakpoint may affect an upstream regulatory sequence that subjects the gene to position effect variegation (PEV)...
- Product selection issues in the management of hemophilia BJorge Di Paola
Great Plains Hemophilia Treatment Center, Iowa City, Iowa, USA
Blood Coagul Fibrinolysis 15:S17-8. 2004..It is expected that both recombinant and plasma-derived products will continue to be used worldwide in the treatment of hemophilia B...
- Platelet glycoprotein I(b)alpha and integrin alpha2 beta1 polymorphisms: gene frequencies and linkage disequilibrium in a population diversity panelJ Di Paola
Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA
J Thromb Haemost 3:1511-21. 2005..These data provide a valuable resource for optimal selection of variants best tailored for association studies of vascular disease or bleeding disorders when examining individuals of different ancestral origins...
- ReFacto and Advate: a single-dose, randomized, two-period crossover pharmacokinetics study in subjects with haemophilia AJ Di Paola
University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA
Haemophilia 13:124-30. 2007..Results from this PKs comparison of two different rFVIII products, using chromogenic substrate assay to measure FVIII:C, showed that ReFacto and Advate are bioequivalent to each other...
- Determinants of bleeding severity in von Willebrand diseaseJorge Di Paola
Department of Pediatrics, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA
Curr Hematol Rep 4:345-9. 2005..It is hoped that new clinical-genetic studies will shed light on these issues and help practitioners to determine the population at risk for bleeding...
- New developments in the treatment of pediatric hemophilia and bleeding disordersBrian R Branchford
Department of Pediatrics, Section of Hematology Oncology Bone Marrow Transplantation, Children s Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, Colorado 80045, USA
Curr Opin Pediatr 25:23-30. 2013..Because of the limitations of current treatment options, novel therapies are being developed, many of which are reviewed here...
- Role of FcRgamma and factor XIIIA in coated platelet formationShawn M Jobe
Department of Pediatrics, University of Iowa College of Medicine, Iowa City, IA 52242, USA
Blood 106:4146-51. 2005..We conclude that FcRgamma, but not factor XIIIA, is essential for formation of highly procoagulant coated platelets following dual stimulation with collagen and thrombin...
- Critical role for the mitochondrial permeability transition pore and cyclophilin D in platelet activation and thrombosisShawn M Jobe
Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, USA
Blood 111:1257-65. 2008..These results implicate CypD and the MPTP as critical regulators of platelet activation and suggest a novel CypD-dependent negative-feedback mechanism regulating arterial thrombosis...
- Making a diagnosis of VWDBrian R Branchford
Department of Pediatrics, Section of Hematology Oncology Bone Marrow Transplantation, University of Colorado Anschutz Medical Campus, Aurora, CO, USA
Hematology Am Soc Hematol Educ Program 2012:161-7. 2012..Finally, common testing pitfalls and diagnostic dilemmas are covered, including the challenge created by the overlap of borderline low VWF levels and mild bleeding...
- Recombinant factor IX for clinical and research usePaul E Monahan
Department of Pediatrics, Gene Therapy Center, Harold R Roberts Comprehensive Hemophilia Treatment Center, University or North Carolina at Chapel Hill, Chapel Hill, NC 27599 7236, USA
Semin Thromb Hemost 36:498-509. 2010..The experience with the existing recombinant FIX product is reviewed with a focus on the novel products and the potential to improve the quality of life for individuals with hemophilia B...
- Tissue factor signals airway epithelial basal cell survival via coagulation and protease-activated receptor isoforms 1 and 2Shama Ahmad
Department of Pediatrics, National Jewish Health, Denver, CO, USA
Am J Respir Cell Mol Biol 48:94-104. 2013..The implications of these findings are discussed in the context of basal cell-associated TF activity in normal and injured tissues and of the potential for repair of airway epithelium in lung disease...
- Role of the adapter protein SLP-76 in GPVI-dependent platelet procoagulant responses to collagenLorie Leo
Departments of Internal Medicine and Pediatrics, University of Iowa College of Medicine, and Veterans Affairs Medical Center, Iowa City, IA 52242, USA
Blood 100:2839-44. 2002..Thus, both GPVI-dependent and GPVI-independent pathways contribute to collagen-induced platelet procoagulant activity...