Results 51 to 60 of about 12,413,959 (307)

Molecular pathology of haemophilia B. [PDF]

The EMBO Journal, 1989
Direct sequencing of amplified genomic DNA has been used to investigate the molecular basis of haemophilia B and thus identify specific amino acids that are essential for maintenance of structure or function of factor IX. Substitution of Cys 336, Asn 120 results in loss of circulating factor IX antigen and deletion of Arg 37 in gross reduction of ...
P M, Green, D R, Bentley, R S, Mibashan, I M, Nilsson, F, Giannelli   +4 more
openaire   +2 more sources

Effect of etranacogene dezaparvovec on quality of life for severe and moderately severe haemophilia B participants: Results from the phase III HOPE‐B trial 2 years after gene therapy

Haemophilia
For people with haemophilia B (PwHB), bleeding may occur despite prophylaxis, negatively affecting health‐related quality of life (HRQoL). The pivotal phase 3 HOPE‐B trial investigating the adeno‐associated virus gene transfer product, etranacogene ...
Robbin Itzler, T. Buckner, F. Leebeek, Joel Miller, Michael Recht, Douglass Drelich, Paul E. Monahan, S. Pipe   +7 more
semanticscholar   +1 more source

Seroprevalence of Hepatitis B and Hepatitis C in People with Haemophilia at a Tertiary Care Centre, Assam, India: A Cross-sectional Study [PDF]

Journal of Clinical and Diagnostic Research
Introduction: Prior to the advent of recombinant factor products, the treatment of haemophilia was mainly based on the administration of direct blood products like whole blood, Fresh Frozen Plasma (FFP), and cryoprecipitates. This led to a high incidence
Anupam Dutta, Luish Borboruah, Papori Gogoi   +2 more
doaj   +1 more source

The experiences of people with haemophilia and their families of gene therapy in a clinical trial setting: regaining control, the Exigency study

Orphanet Journal of Rare Diseases, 2022
Background Gene therapy has the potential to change the life experience of people with haemophilia and family members. Few studies have sought to explore the impact of gene therapy on both individuals and families.
Simon Fletcher, Kathryn Jenner, Luke Pembroke, Michael Holland, Kate Khair   +4 more
doaj   +1 more source

Pharmacokinetics, safety and efficacy of a recombinant factor IX product, trenonacog alfa in previously treated haemophilia B patients

Haemophilia, 2018
Trenonacog alfa (IB1001) is a recombinant factor IX (rFIX) manufactured in Chinese hamster ovary (CHO) cells. IB1001 was evaluated in a multicentre clinical trial with haemophilia B patients.
P. Collins, Doris V Quon, Michael Makris, P. Chowdary, Christine L. Kempton, S. Apte, M. V. Ramanan, C. Hay, B. Drobic, Y. Hua, T. Babinchak, Edward D. Gomperts   +11 more
semanticscholar   +1 more source

PERAWATAN GIGI DAN MULUT PENDERITA HEMOFILIA

Journal of Dentistry Indonesia, 2015
Haemophilia is a congenital haemorrhagic disorders passed down by the x linked recessive, divided into two: Haemophilia A caused by deficiency of factor VIII and Haemophilia B caused by deficiency of factor IX.
Siti Marhamah
doaj   +1 more source

Lipid Nanoparticles for the Delivery of CRISPR/Cas9 Machinery to Enable Site‐Specific Integration of CFTR and Mutation‐Agnostic Disease Rescue

Advanced Functional Materials, EarlyView.
Lipid nanoparticles (LNPs) are optimized to co‐deliver Cas9‐encoding messenger RNA (mRNA), a single guide RNA (sgRNA) targeting the endogenous cystic fibrosis transmembrane conductance regulator (CFTR) gene, and homologous linear double‐stranded donor DNA (ldsDNA) templates encoding CFTR.
Ruth A. Foley, Paul G. Ayoub, Vrishti Sinha, Colin Juett, Alicia Sanoyca, Emily C. Duggan, Lindsay E. Lathrop, Priyanka Bhatt, Kevin Coote, Beate Illek, Brigitte N. Gomperts, Donald B. Kohn, Steven J. Jonas   +12 more
wiley   +1 more source

Haemophilia care in Iraq; a multi-centre study

Journal of the Pakistan Medical Association
Objectives: To evaluate the level of care available to haemophilia patients. Method: The descriptive, retrospective analytical study was conducted from December 15, 2020, to March 1, 2021, after approval from the Mustansiriyah University, Baghdad ...
Nidal Karim Al Rahal, Meaad Kadhum Hassan, Obeida Amir Abid, Azeezah Mohammed Mohsin   +3 more
doaj   +1 more source

Gene therapy in haemophilia: literature review and regional perspectives for Turkey

Therapeutic Advances in Hematology, 2022
Haemophilia is an X-linked lifelong congenital bleeding disorder that is caused by insufficient levels of factor VIII (FVIII; haemophilia A) or factor IX (FIX; haemophilia B) and characterized by spontaneous and trauma-related bleeding episodes.
Kaan Kavaklı, Bülent Antmen, Vahap Okan, Fahri Şahin, Selin Aytaç, Can Balkan, Ergül Berber, Zühre Kaya, Alphan Küpesiz, Bülent Zülfikar   +9 more
doaj   +1 more source

Dual‐Functional Polyphosphoesters for Gene Delivery: Synergistic Effects of Guanidinium and Hydrophobic Side Chains in Degradable Polymers

Advanced Healthcare Materials, EarlyView.
This study presents guanidinium‐ and indole‐functionalized polyphosphoesters as degradable, non‐viral gene delivery vectors. Through precise tuning of charge density and hydrophobicity, these polymers form stable polyplexes with low toxicity. Remarkably, minor structural changes yield up to 200‐fold differences in transfection efficiency, highlighting ...
Markus Kötzsche, Andreas Dzierza, Jan Egger, Timo Rheinberger, Christin Weilandt, Frederik R. Wurm, Ivo Nischang, Dagmar Fischer, Kalina Peneva   +8 more
wiley   +1 more source