Results 131 to 140 of about 527,016 (306)

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

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 structure and function of vertebrate fibroblast growth factor receptor 1 [PDF]

, 2002
The vertebrate fibroblast growth factor receptor 1 (FGFR1) is alternatively spliced generating multiple splice variants that are differentially expressed during embryo development and in the adult body.
Groth, C., Lardelli, M.
core  

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

Fibroblast growth factor signaling in macrophage polarization: impact on health and diseases

Frontiers in Immunology
Fibroblast growth factors (FGFs) are a versatile family of peptide growth factors that are involved in various biological functions, including cell growth and differentiation, embryonic development, angiogenesis, and metabolism. Abnormal FGF/FGF receptor
Luyao Shen, Yongsheng Li, Yongsheng Li, Huakan Zhao   +3 more
doaj   +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

RANTES and fibroblast growth factor 2 in jawbone cavitations: triggers for systemic disease?

International Journal of General Medicine, 2013
Johann Lechner,1 Volker von Baehr2 1Clinic for Integrative Dentistry, Munich, Germany; 2Compartment of Immunology and Allergology on Institute for Medical Diagnostics in MVZ GbR, Berlin, Germany Background: Jawbone cavitations (JC) are hollow dead spaces
Lechner J, von Baehr V
doaj  

Pulmonary fibrosis requires cell-autonomous mesenchymal fibroblast growth factor (FGF) signaling [PDF]

, 2017
Chen, Lin, Dorry, Samuel J, Guzy, Robert D, Koo, Hyun Young, Li, Ling, Ornitz, David M, Smith, Craig   +6 more
core   +2 more sources