Results 141 to 150 of about 946,310 (305)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

The Role of Fibroblasts in Atopic Dermatitis: Establishing Proinflammatory Microenvironments and Mediating Cellular Crosstalk

Journal of Inflammation Research
Wen-Hui Yao, Chen Sun, Zheng Su, Pan Wang, Yue-Ping Zeng Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, National Clinical Research Center for Dermatologic and ...
Yao WH, Sun C, Su Z, Wang P, Zeng YP
doaj  

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Artificial Intelligence in Systemic Sclerosis: Clinical Applications, Challenges, and Future Directions

Arthritis Care &Research, EarlyView.
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos, José Miguel Sequí‐Sabater, Diego Benavent   +2 more
wiley   +1 more source

Synthesis of a Novel Thermoresponsive S53P4 Bioactive Glass Extract–Poloxamer 407 Injectable Hydrogels: Assessment of Biocompatibility and Antimicrobial Properties

Advanced Engineering Materials, EarlyView.
This study investigates innovative thermoreversible hydrogels derived from S53P4 bioactive glass extracts to aid in the healing of infected diabetic foot wounds. These injectable gels, which gel at body temperature, release beneficial ions and remain stable over time.
Marian G. Vargas Guerrero, Adrian Stiller, Alex Nygård, Matej Krivulka, Lars Galema, Erwin Peters, Jimmy Lucchesi, Peter Uppstu, Leena Hupa, Jacobus J. C. Arts   +9 more
wiley   +1 more source

Copper Nanocrystallization in Anodic Oxide Films of Ti–Cu‐Based Bulk Metallic Glass and Its Effect on the Corrosion Resistance and Cytocompatibility

Advanced Engineering Materials, EarlyView.
Viktoriia Shtefan, Thorgund Nemec, Ute Hempel, Annett Gebert and coworkers demonstrate that anodic treatment of Ti–Cu‐based metallic glass in a nontoxic pyrophosphate electrolyte forms a protective bilayered Ti/Zr‐oxide film enriched with Cu nanocrystals.
Viktoriia Shtefan, Nora Fernández Navas, Thorgund Nemec, Ivan Kaban, Ute Hempel, Andrea Voss, Volker Hoffmann, Darius Pohl, Annett Gebert   +8 more
wiley   +1 more source

3D (Bio) Printing Combined Fiber Fabrication Methods for Tissue Engineering Applications: Possibilities and Limitations

Advanced Functional Materials, EarlyView.
Biofabrication aims at providing innovative technologies and tools for the fabrication of tissue‐like constructs for tissue engineering and regenerative medicine applications. By integrating multiple biofabrication technologies, such as 3D (bio) printing with fiber fabrication methods, it would be more realistic to reconstruct native tissue's ...
Waseem Kitana, Indra Apsite, Leonid Ionov   +2 more
wiley   +1 more source

Substrate Stress Relaxation Regulates Cell‐Mediated Assembly of Extracellular Matrix

Advanced Functional Materials, EarlyView.
Silicone‐based viscoelastic substrates with tunable stress relaxation reveal how matrix mechanics regulates cellular mechanosensing and cell‐mediated matrix remodelling in the stiff regime. High stress relaxation promotes assembly of fibronectin fibril‐like structures, increased nuclear localization of YAP and formation of β1 integrin‐enriched ...
Jonah L. Voigt, Jens Timmer, Elisabetta Ada Cavalcanti‐Adam   +2 more
wiley   +1 more source