Results 81 to 90 of about 384,078 (314)

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

Annals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs, Carrie M. Stephan, Theresa M. Czech, Mary O. Cox, Soumya Joseph, Benjamin W. Darbro, Steven A. Moore, Kevin P. Campbell, Katherine D. Mathews   +8 more
wiley   +1 more source

Clinical and laboratory characteristics of Brazilian versus non-Brazilian primary antiphospholipid syndrome patients in AntiPhospholipid Syndrome Alliance for Clinical Trials and InternatiOnal Networking (APS ACTION) clinical database and repository

Advances in Rheumatology, 2021
Background Antiphospholipid syndrome (APS) is characterized by episodes of thrombosis, obstetric morbidity or both, associated with persistently positive antiphospholipid antibodies (aPL).
Erivelton de Azevedo Lopes, Gustavo Guimarães Moreira Balbi, Maria G. Tektonidou, Vittorio Pengo, Savino Sciascia, Amaia Ugarte, H. Michael Belmont, Maria Gerosa, Paul R. Fortin, Chary Lopez-Pedrera, Lanlan Ji, Hannah Cohen, Guilherme Ramires de Jesús, D. Ware Branch, Cecilia Nalli, Michelle Petri, Esther Rodriguez, Nina Kello, Roberto Ríos-Garcés, Jason S. Knight, Tatsuya Atsumi, Rohan Willis, Maria Laura Bertolaccini, Doruk Erkan, Danieli Andrade, APS ACTION   +25 more
doaj   +1 more source

Distinct Network Morphologies from In Situ Polymerization of Microtubules in Giant Polymer‐Lipid Hybrid Vesicles

Advanced Biology, EarlyView.
The successful in situ polymerization of microtubules in giant polymer‐lipid hybrid vesicles is illustrated. The microtubules formed in the giant hybrid vesicles exhibit different morphologies including lumenal network formation and membrane association. Abstract Creating artificial cells with a dynamic cytoskeleton, akin to those in living cells, is a
Paula De Dios Andres, Mousumi Akter, Cecilie Ryberg, Brigitte Städler, Allen P. Liu   +4 more
wiley   +1 more source

Investigating the Antiviral Properties of Nyctanthes arbor-tristis Linn against the Ebola, SARS-CoV-2, Nipah, and Chikungunya Viruses: A Computational Simulation Study

Pharmaceuticals
Background: The hunt for naturally occurring antiviral compounds to combat viral infection was expedited when COVID-19 and Ebola spread rapidly. Phytochemicals from Nyctanthes arbor-tristis Linn were evaluated as significant inhibitors of these viruses ...
Raed Albiheyri, Varish Ahmad, Mohammad Imran Khan, Faisal A. Alzahrani, Qazi Mohammad Sajid Jamal   +4 more
doaj   +1 more source

Polimorfismo Val247Leu do gene β2-glicoproteína 1 pode justificar a gênese de anticorpos antiβ2GP1 e síndrome do anticorpo antifosfolípide na hanseníase multibacilar Val247Leu polymorphism of β2 glycoprotein 1 gene may justify the genesis of anti β2GP1 antibodies and Antiphospholipid Syndrome in Multibacillary Leprosy

Anais Brasileiros de Dermatologia, 2009
FUNDAMENTOS - Anticorpos antifosfolípides (AAF), como antiβ2GP1 (β2-glicoproteína 1), são descritos na hanseníase multibacilar (MB) sem, contudo, caracterizar a síndrome do anticorpo antifosfolípide (SAF), constituída por fenômenos ...
Maria José Franco Brochado, Margarida Maria Passeri do Nascimento, Paulo Louzada Junior, José Fernando C. Figueiredo, Ana Maria Roselino   +4 more
doaj   +1 more source

beta 2-Glycoprotein I: a plasma inhibitor of the contact activation of the intrinsic blood coagulation pathway.

Blood, 1985
The general hypothesis for the biological function of beta 2-glycoprotein I is that it neutralizes all negatively charged macromolecules that might enter the bloodstream and diminishes unwanted activation of the blood coagulation. In the present study we
I. Schousboe
semanticscholar   +1 more source

The Potential for Extracellular Vesicles in Nanomedicine: A Review of Recent Advancements and Challenges Ahead

Advanced Biology, EarlyView.
Extracellular vesicles (EVs) play a dual role in diagnostics and therapeutics, offering innovative solutions for treating cancer, cardiovascular, neurodegenerative, and orthopedic diseases. This review highlights EVs’ potential to revolutionize personalized medicine through specific applications in disease detection and treatment.
Farbod Ebrahimi, Anjali Kumari, Samaneh Ghadami, Saqer Al Abdullah, Kristen Dellinger   +4 more
wiley   +1 more source

Biomimetic Design of Biocompatible Neural Probes for Deep Brain Signal Monitoring and Stimulation: Super Static Interface for Immune Response‐Enhanced Contact

Advanced Functional Materials, EarlyView.
Ultrathin, flexible neural probes are developed with an innovative, biomimetic design incorporating brain tissue‐compatible materials. The material system employs biomolecule‐based encapsulation agents to mitigate inflammatory responses, as demonstrated through comprehensive in vitro and in vivo studies.
Jeonghwa Jeong, Gyeonghwa Heo, Young Woo Kwon, Seon Yeong Chae, Min Jae Kim, Ki Jun Yu, Hwa Kyoung Shin, Suck Won Hong   +7 more
wiley   +1 more source

High Prevalence of aCL-IgA and aβ2GPI-IgA in Drug-Free Schizophrenia Patients: Evidence of a Potential Autoimmune Link

Antibodies
Background/Objectives: Schizophrenia (SZ) is a complex psychiatric disorder with increasing evidence pointing to an autoimmune component, including the presence of antiphospholipid antibodies (aPLs).
Samar Samoud, Imen Zamali, Fatma Korbi, Ahlem Mtiraoui, Ahlem Ben Hmid, Neila Hannachi, Yousr Galai, Hechmi Louzir, Yousri El Kissi   +8 more
doaj   +1 more source

Pathogenic role of anti-β2-glycoprotein I antibodies in antiphospholipid associated fetal loss: characterisation of β2-glycoprotein I binding to trophoblast cells and functional effects of anti-β2-glycoprotein I antibodies in vitro [PDF]

Annals of the Rheumatic Diseases, 2005
Antiphospholipid antibodies reacting with beta2-glycoprotein I (beta 2GPI) have been associated with recurrent fetal loss and pregnancy complications.To investigate whether specific mutations in the phospholipid binding site of beta 2GPI might affect its binding to trophoblast and in turn the anti-beta 2GPI antibody induced functional effects.beta 2GPI
Di Simone, Nicoletta, Raschi, E, Testoni, C, Castellani, Roberta, D'Asta, Marco, Shi,T, Krilis, Sa, Caruso, Alessandro, Meroni, Pier Luigi   +8 more
openaire   +3 more sources