Results 191 to 200 of about 5,391,787 (331)

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera, Sarcoglycan European Cohort Consortium, Adele D′Amico, Adolfo López de Munain, Alicia Alonso‐Jiménez, Ana Camacho‐Salas, Andrea Gangfuß, Andrés Nascimento, Anna Sarkozy, Anneke J. van der Kooi, Arturo Fraga‐Bau, Béla Melegh, Benedikt Schoser, Bjarne Udd, Blaz Koritnik, Carlos Ortez, Chiara Marini Bettolo, Chiara Panicucci, Claudia Weiss, Claudio Bruno, Claudio Semplicini, Cristina Dominguez‐González, Cristina Garrido, David Gómez‐Andrés, Edoardo Malfatti, Elena Pegoraro, Elke De Vos, Francina Munell, Gabriele Dekomien, Giacomo Pietro Comi, Giorgio Tasca, Isabelle Richard, Jan L. De Bleecker, Jana Haberlová, Jesper Helbo Storgaard, Johanna Palmio, John Vissing, Juan Carlos de Leon‐Hernández, Kinga Hadzsiev, Laura Costa‐Comellas, Lea Leonardis, Leroy ten Dam, Lidia González‐Quereda, Luca Bello, Luisa Politano, Manuela Santos, Marianne de Visser, Marie Rohlenová, Matteo Garibaldi, Michela Guglieri, Nicolas Deconinck, Nicoline Løkken, Omar Abdel‐Mannan, Pia Gallano, Roberto Fernández‐Torrón, Ulrike Schara‐Schmidt, Vincenzo Nigro, Vittoria Zangaro   +72 more
wiley   +1 more source

Isolation, Structural Elucidation, and Biological Evaluation of Pyrrole-Based Alkaloids from Sea Anemone-Associated Streptomyces sp. S1502. [PDF]

Mar Drugs
Zhang X, Yang Q, Zhou L, Chen Y, Ju J, Ma J.   +5 more
europepmc   +1 more source

A Qualitative Analysis of Patient Perspectives and Preferences in Lupus Management to Guide Lupus Guidelines Development

Arthritis Care &Research, EarlyView.
Objective A patient‐centered approach for chronic disease management, including systemic lupus erythematosus (SLE), aligns treatment with patients’ values and preferences, leading to improved outcomes. This paper summarizes how patient experiences, perspectives, and priorities informed the American College of Rheumatology (ACR) 2024 Lupus Nephritis (LN)
Shivani Garg, Izzy Hartel, Lisa R. Sammaritano, Anca Askanase, Bonnie L. Bermas, Maria Dall'Era, Alí Duarte‐García, Victoria P. Werth, Brad Rovin, Reem A. Mustafa, Amy S. Turner, Bené Williams, Brian L. Ung, Hiya Bhavsar, Monique C. Gore‐Massy, Nahirannette Pulido, Natacha Guerrero, Natalie M. Smith, Wambui Machua, Linda T. Hiraki, Mary Beth Son   +20 more
wiley   +1 more source

Structural Elucidation and Covalent Modulation of the Autorepressed Orphan Nuclear Receptor NR2F6. [PDF]

ACS Chem Biol
Oerlemans GJM, van den Oetelaar MCM, van den Elzen SP, Brunsveld L.   +3 more
europepmc   +1 more source

Risk of Retinopathy Associated with Long‐Term Use of Hydroxychloroquine in Patients with Rheumatic Diseases: A Systematic Review and Meta‐Analysis

Arthritis Care &Research, Accepted Article.
Objective We aimed to estimate the prevalence and cumulative incidence of hydroxychloroquine retinopathy (HCQ‐R) and its risk factors among long‐term HCQ users with rheumatic diseases through a systematic review and meta‐analysis of observational studies that used spectral‐domain OCT (SD‐OCT) for screening. Methods A systematic search of PubMed, Scopus,
Narsis Daftarian, Chloe Yue, Steve D Levasseur, Hui Xie, J. Antonio Avina‐Zubieta   +4 more
wiley   +1 more source

Structural Elucidation and Storage Stability of Novel Dietary Sulfur Compounds from Radish. [PDF]

Foods
Jeong GA, Lee I, Sung J, Lee CJ.
europepmc   +1 more source

Current Tracking Adaptive Control of Brushless DC Motors

International Journal of Adaptive Control and Signal Processing, EarlyView.
In this paper, the current tracking for Brushless Direct Current motors is approached considering uncertainty in the parameters of the motor's model. An adaptive control scheme to compensate electrical parameters uncertainty is proposed without requiring any knowledge of the mechanical parameters.
Fernanda Ramos‐García, Axel Coronado‐Andrade, Gerardo Espinosa‐Pérez, Luis Alvarez‐Icaza   +3 more
wiley   +1 more source

Structural Elucidation and Antiviral Activity Evaluation of Novelly Synthesized Guaiazulene Derivatives. [PDF]

Mar Drugs
Cheng C, Hou L, Tang X, Li G.
europepmc   +1 more source

Harnessing Fungal Biowelding for Constructing Mycelium‐Engineered Materials

Advanced Engineering Materials, EarlyView.
Mycelium‐bound composites (MBCs) offer low‐carbon alternatives for construction, yet interfacial bonding remains a critical challenge. This review examines fungal biowelding as a biocompatible adhesive, elucidating mycelium‐mediated interfacial mechanisms and their role in material assembly. Strategies to optimize biowelding are discussed, highlighting
Xue Brenda Bai, Xinrui Sarah Niu, Zhao Qin   +2 more
wiley   +1 more source

Extraction, purification, structural elucidation, and immunomodulatory activity of <i>Bletilla striata</i> polysaccharides via the NF-κB signaling pathway. [PDF]

Front Immunol
Pang G, Zhou K, Gao D, Wang D, Xue J, Lu T, Chai H.   +6 more
europepmc   +1 more source