Results 41 to 50 of about 49,324 (252)

Progress in the use of adeno-associated viral vectors for gene therapy [PDF]

, 2004
The development of safe and efficient gene transfer vectors is crucial for the success of gene therapy trials. A viral vector system promising to meet these requirements is based on the apathogenic adeno-associated virus (AAV-2), a member of the ...
Braun-Falco, M., Buning, H., Hallek, M.
core   +1 more source

Potent Liver‐Tropic mRNA Lipid Nanoparticles: ApoE‐Mediated Delivery Through a Low‐Density Lipoprotein Receptor Independent Uptake Mechanism

Advanced Materials, EarlyView.
Helper and ionizable lipids play a crucial role in determining ApoE binding and subsequent liver tropism and LDLR‐mediated uptake. Ionizable lipids primarily govern the LDLR‐independent uptake pathway. This complementary interplay between lipid components ultimately governs LNP delivery performance and therapeutic efficacy in the liver.
Ashish Sarode, Christian Ortiz, Tadeh Derstepanian, Natalia Vargas‐Montoya, Priyal Patel, Nikita Khadse, Saikat Manna, Ryan Landis, Joseph Skaleski, Lianne Boeglin, Hongfeng Deng, Anusha Dias, Hong Wang, Debora Barreiros Petropolis, Barak Yahalom, Shrirang Karve, Frank DeRosa   +16 more
wiley   +1 more source

Serum Vitamin D in Children with Hemophilia A and Its Association with Joint Health and Quality of Life

Hematology Reports
Background/Objectives: Hemophilia A is an X-linked recessive illness produced by a deficiency of coagulation factor VIII. This study aimed to evaluate serum vitamin D in hemophilic pediatric patients and its correlation with joint health and quality of ...
Aida M. S. Salem, Takwa Mohamed AbdEltwwab, Hanan Hosni Moawad, Marwa O. Elgendy, Reham S. Al-Fakharany, Ahmed Khames, Mohamed Hussein Meabed   +6 more
doaj   +1 more source

An assessment of the relative influence of pain coping, negative thoughts about pain, and pain acceptance on health-related quality of life among people with hemophilia [PDF]

, 2009
Many people with hemophilia are affected by chronic arthritic joint pain as well as acute bleeding pain. In this cross-sectional study, 209 men with hemophilia A or B completed the Hemophilia Pain Coping Questionnaire (HPCQ), the Chronic Pain Acceptance ...
Barakat, Baron, Barry, Choiniere, Elander, Elander, Esteve, Fischer, Fischer, Georgina Robinson, Gil, Gil, Hays, Hays, James Elander, Jensen, Jensen, John Morris, Kathryn Mitchell, Kratz, McCracken, McCracken, McCracken, McCracken, McCracken, McCracken, McCracken, McHorney, McHorney, Miners, Miners, Preacher, Roberts, Romano, Rosenstiel, Royal, Ruta, Santavirta, Solovieva, Solovieva, Stansfield, Szende, Trippoli, Turner, Turner, Vowles, Vowles, Vowles   +47 more
core   +1 more source

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

Animal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu, Zhiyang Zeng, Xinyu Ming, Shuming Yin, Yuting Guan, Liangcai Gao, Dali Li   +6 more
wiley   +1 more source

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

Annals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source

Clinical, humanistic, and economic burden of severe hemophilia B in the United States: Results from the CHESS US and CHESS US+ population surveys

Orphanet Journal of Rare Diseases, 2021
Background Hemophilia B is a rare congenital bleeding disorder that has a significant negative impact on patients’ functionality and health-related quality of life.
Tom Burke, Sohaib Asghar, Jamie O’Hara, Eileen K. Sawyer, Nanxin Li   +4 more
doaj   +1 more source

Queen Victoria and The Royal Disease [PDF]

, 2018
Queen Victoria, Queen of England and Ireland and Empress of India, is the second longest ruling monarch of England, she sat on the throne for sixty –three years and was so crucial to the formation of England that there is a whole era names after her, The
Mullen, Madeline
core   +1 more source

Optimization of CEST MRI Reporter Protein Design Using Cation‐Pi Networks

Chemistry – A European Journal, EarlyView.
A novel engineering approach can produce reporter proteins for cell and viral therapy tracking with unique magnetic resonance imaging (MRI) signatures, detectable with chemical exchange saturation transfer (CEST). We discover how cation‐π interactions between amino acid groups can help us fine‐tune magnetic resonance properties for noninvasive ...
David E. Korenchan, Ethan J. French, Emerenziana Runco, Chetan B. Dhakan, Jinwu Yan, Hiroshi Nakashima, Michael T. McMahon, Assaf A. Gilad, Christian T. Farrar   +8 more
wiley   +1 more source

Large Language Models for Clinical Trial Protocol Assessments

Clinical Pharmacology &Therapeutics, EarlyView.
The purpose was to evaluate the utility of large language models (LLMs) for reviewing the statistical analysis plan (SAP) and pharmacokinetics–pharmacodynamics (PK–PD) components of clinical trial protocols. Clinical trial protocols and SAPs were obtained from clinicaltrials.gov for a testbed of 15 small‐molecule drugs, biologics, and global antibiotic
Euibeom Shin, Amruta Gajanan Bhat, Murali Ramanathan   +2 more
wiley   +1 more source