Results 21 to 30 of about 13,284,040 (264)

The Molecular Basis of FIX Deficiency in Hemophilia B

International Journal of Molecular Sciences, 2022
Coagulation factor IX (FIX) is a vitamin K dependent protein and its deficiency causes hemophilia B, an X-linked recessive bleeding disorder. More than 1000 mutations in the F9 gene have been identified in hemophilia B patients.
G. Shen, Meng Gao, Qing Cao, Weikai Li
semanticscholar   +1 more source

Clinical, instrumental, serological and histological findings suggest that hemophilia B may be less severe than hemophilia A

Haematologica, 2016
Recent evidence suggests that patients with severe hemophilia B may have a less severe disease compared to severe hemophilia A. To investigate clinical, radiological, laboratory and histological differences in the arthropathy of severe hemophilia A and ...
Daniela Melchiorre, Silvia Linari, Mirko Manetti, Eloisa Romano, Francesco Sofi, Marco Matucci-Cerinic, Christian Carulli, Massimo Innocenti, Lidia Ibba-Manneschi, Giancarlo Castaman   +9 more
doaj   +1 more source

Impact of mild to severe hemophilia on education and work by US men, women, and caregivers of children with hemophilia B: The Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B‐HERO‐S) study

European Journal of Haematology, 2017
David Cooper, Skye Peltier, David L Cooper   +2 more
exaly   +2 more sources

Insights into the Molecular Genetic of Hemophilia A and Hemophilia B: The Relevance of Genetic Testing in Routine Clinical Practice

Hämostaseologie, 2022
Hemophilia A and hemophilia B are rare congenital, recessive X-linked disorders caused by lack or deficiency of clotting factor VIII (FVIII) or IX (FIX), respectively.
B. Pezeshkpoor, J. Oldenburg, A. Pavlova
semanticscholar   +1 more source

Adenovirus-Associated Virus Vector–Mediated Gene Transfer in Hemophilia B

New England Journal of Medicine, 2011
BACKGROUND Hemophilia B, an X-linked disorder, is ideally suited for gene therapy. We investigated the use of a new gene therapy in patients with the disorder.
A. Nathwani, E. Tuddenham, S. Rangarajan, Cecilia Rosales, J. McIntosh, D. Linch, P. Chowdary, A. Riddell, Arnulfo Pie, C. Harrington, J. O’Beirne, Keith A. Smith, J. Pasi, B. Glader, P. Rustagi, C. Ng, M. Kay, Junfang Zhou, Yunyu Spence, C. Morton, J. Allay, J. Coleman, S. Sleep, J. Cunningham, D. Srivastava, E. Basner-Tschakarjan, F. Mingozzi, K. High, J. Gray, U. Reiss, A. Nienhuis, A. Davidoff   +31 more
semanticscholar   +1 more source

Low-dose AAV-CRISPR-mediated liver-specific knock-in restored hemostasis in neonatal hemophilia B mice with subtle antibody response

Nature Communications, 2022
AAV-delivered CRISPR/Cas9 (AAV-CRISPR) has shown promising potentials in preclinical models to efficiently insert therapeutic gene sequences in somatic tissues.
Xiangjun He, Zhenjie Zhang, Jun Xue, Yaofeng Wang, Siqi Zhang, Junkang Wei, Chenzi Zhang, Jue Wang, Brian Anugerah Urip, Chun Christopher Ngan, Junjiang Sun, Yuefeng Li, Zhiqian Lu, Hui Zhao, D. Pei, Chi-kong Li, Bo Feng   +16 more
semanticscholar   +1 more source

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

Hemophilia B Gene Therapy with a High-Specific-Activity Factor IX Variant

New England Journal of Medicine, 2017
Background The prevention of bleeding with adequately sustained levels of clotting factor, after a single therapeutic intervention and without the need for further medical intervention, represents an important goal in the treatment of hemophilia. Methods
Lindsey A. George, S. Sullivan, A. Giermasz, J. Rasko, Benjamin J. Samelson-Jones, J. Ducore, A. Cuker, L. Sullivan, S. Majumdar, J. Teitel, C. McGuinn, M. Ragni, A. Luk, Daniel J. Hui, Fraser Wright, Yifeng Chen, Yun Liu, Katie Wachtel, Angela Winters, S. Tiefenbacher, V. Arruda, J. C. M. van der Loo, O. Zelenaia, D. Takefman, M. Carr, L. Couto, X. Anguela, K. High   +27 more
semanticscholar   +1 more source

BAX 335 hemophilia B gene therapy clinical trial results - potential impact of CpG sequences on gene expression.

Blood, 2020
Gene therapy has the potential to maintain therapeutic blood clotting factor IX (FIX) levels in patients with hemophilia B by delivering a functional human F9 gene into liver cells.
B. Konkle, C. Walsh, Miguel A. Escobar, N. Josephson, G. Young, Annette von Drygalski, S. McPhee, R. Samulski, I. Bilić, Maurus de la Rosa, B. Reipert, H. Rottensteiner, F. Scheiflinger, J. Chapin, B. Ewenstein, P. Monahan   +15 more
semanticscholar   +1 more source