Results 11 to 20 of about 48,006 (264)

Adeno‐associated virus serotype 2 capsid variants for improved liver‐directed gene therapy

Hepatology, EarlyView., 2022
Abstract Background and Aims Current liver‐directed gene therapies look for adeno‐associated virus (AAV) vectors with improved efficacy. With this background, capsid engineering is explored. Whereas shuffled capsid library screenings have resulted in potent liver targeting variants with one first vector in human clinical trials, modifying natural ...
Nadja Meumann, Marti Cabanes‐Creus, Moritz Ertelt, Renina Gale Navarro, Julie Lucifora, Qinggong Yuan, Karin Nien‐Huber, Ahmed Abdelrahman, Xuan‐Khang Vu, Liang Zhang, Ann‐Christin Franke, Christian Schmithals, Albrecht Piiper, Annabelle Vogt, Maria Gonzalez‐Carmona, Jochen T. Frueh, Evelyn Ullrich, Philip Meuleman, Steven R. Talbot, Margarete Odenthal, Michael Ott, Erhard Seifried, Clara T. Schoeder, Joachim Schwäble, Leszek Lisowski, Hildegard Büning   +25 more
wiley   +1 more source

A review of evidence about behavioural and psychological aspects of chronic joint pain among people with haemophilia [PDF]

, 2014
Joint pain related to haemophilia affects large numbers of people and has a significant impact on their quality of life. This article reviews evidence about behavioural and psychological aspects of joint pain in haemophilia, and considers that evidence ...
Acharya, Barlow, Barry, Buhrman, Buzzard, Cour, Eckman, Elander, Elander, Elander, Elander, Elander, Ersek, Fischer, Fischer, Fishbain, Galen, Genderen, Gil, Hermans, Hilberg, Holstein, Humphries, Ingerslev, Jensen, Jensen, Karimi, Korff, Laforest, LeFort, Lorig, Lorig, Lorig, Lusher, Mackensen, McCracken, McCracken, McCracken, McCracken, Moore, Moore, Mulvany, Neufeld, Niscola, O'Mahony, Penica, Poon, Riley, Risdon, Rodriguez-Merchan, Royal, Santavirta, Santavirta, Schramm, Schulz, Sherry, Solomon, Solovieva, Spitzer, Stover, Swirsky-Sacchetti, Szende, Thorn, Turk, Turk, Varni, Varni, Varni, Varni, Wallny, Wilson, Witkop, Witkop, Wright, Zawilska, Zhou   +75 more
core   +2 more sources

Identification and Genetic Analysis of a Factor IX Gene Intron 3 Mutation in a Hemophilia B Pedigree in China

Turkish Journal of Hematology, 2014
OBJECTIVE: Hemophilia B is caused by coagulation defects in the factor IX gene located in Xq27.1 on the X chromosome. A wide range of mutations, showing extensive molecular heterogeneity, have been described in hemophilia B patients.
Dong Hua Cao, Xiao Li Liu, Kai Mu, Xiang Wei Ma, Jing Li Sun, Xiao Zhong Bai, Chang Kun Lin, Chun Lian Jin   +7 more
doaj   +1 more source

The odds and implications of coinheritance of hemophilia A and B

Research and Practice in Thrombosis and Haemostasis, 2020
We report 2 patients with coinheritance of the X‐linked bleeding disorders hemophilia A and hemophilia B. We describe the family pedigrees, clinical features, and genotyping.
Corinne Karch, Diane Masser‐Frye, Jacqueline Limjoco, Sarah E. Ryan, Shelley N. Fletcher, Kevin D. Corbett, Jill M. Johnsen, Courtney D. Thornburg   +7 more
doaj   +1 more source

Recombinant factorVIII Fc fusion protein for the prevention and treatment of bleeding in children with severe hemophilia A [PDF]

, 2015
This work was supported by funding from Biogen, including funding for the editorial and writing support in the the development of this ...
Allen, G, Barnes, C, Cristiano, LM, Gambino, G, Kulkarni, R, Liesner, R, Mahlangu, J, Neelakantan, S, Nolan, B, Pasi, J, Pierce, GF, Young, G   +11 more
core   +1 more source

The frequency of joint hemorrhages and procedures in nonsevere hemophilia A vs B

Blood Advances, 2018
: Data are needed on minimal factor activity (FA) levels required to prevent bleeding in hemophilia. We aimed to evaluate associations between hemophilia type and FA level and joint bleeding and orthopedic procedures using longitudinal data.
J. Michael Soucie, Paul E. Monahan, Roshni Kulkarni, Barbara A. Konkle, Marshall A. Mazepa   +4 more
doaj   +1 more source

Chemical Chaperones Improve Protein Secretion and Rescue Mutant Factor VIII in Mice with Hemophilia A. [PDF]

, 2012
nefficient intracellular protein trafficking is a critical issue in the pathogenesis of a variety of diseases and in recombinant protein production.
Abriss, Daniela, Milanov, Peter, Pepperkok, Rainer, Quade-Lyssy, Patricia, Roth, Stefanie D., Schüttrumpf, Jörg, Seifried, Erhard, Simpson, Jeremy C., Tonn, Torsten, Ungerer, Christopher   +9 more
core   +2 more sources

MOLECULAR MECHANISMS OF INHIBITOR DEVELOPMENT IN HEMOPHILIA

Mediterranean Journal of Hematology and Infectious Diseases, 2020
The development of neutralizing antibodies in hemophilia is a serious complication of factor replacement therapy. These antibodies, also known as “inhibitors”, significantly increase morbidity within the hemophilia population and lower the quality of ...
Davide Matino, Paul Tieu, Dr., Antony Chan   +2 more
doaj   +1 more source

Sustained high-level expression of human factor IX (hFIX) after liver-targeted delivery of recombinant adeno-associated virus encoding the hFIX gene in rhesus macaques [PDF]

, 2002
The feasibility, safety, and efficacy of liver-directed gene transfer was evaluated in 5 male macaques (aged 2.5 to 6.5 years) by using a recombinant adeno-associated viral (rAAV) vector (rAAV-2 CAGG-hFIX) that had previously mediated persistent ...
Davidoff, AM, Hanawa, H, Hoffer, FA, Hu, Y, Lozier, JN, Mandrell, TD, Nathwani, AC, Ng, CYC, Nienhuis, AW, Nikanorov, A, Slaughter, C, Vanin, EF, Zhou, J   +12 more
core   +1 more source

Cochlear implantation in hemophilia B—a rare case report

The Egyptian Journal of Otolaryngology, 2022
Background Hemophilia B is an X-linked inherited disease, mainly caused by deficiency of factor IX. Severity of the disease is manifested by the factor IX deficiency in the blood.
Chetan Yadav, Diva Sharma, Neeraj Suri, Meenesh Juvekar   +3 more
doaj   +1 more source