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Case Report: A Novel Homozygous Variant in the Gene Causes Fanconi Anemia.
Genet Test Mol Biomarkers
January 2025
Department of Biology, University of Sistan and Baluchestan, Zahedan, Iran.
Fanconi anemia (FA) is a rare genetic disorder that affects multiple systems in the body and is the most prevalent congenital syndrome, leading to bone marrow failure. Twenty-two genes have been identified as contributors to the disease. Significant advancements have been made in the past 2 decades in understanding the genetic and pathophysiological processes involved.
View Article and Find Full Text PDFAnandamide Is a Potential Blood Biomarker of Hermansky-Pudlak Syndrome Pulmonary Fibrosis.
Am J Respir Crit Care Med
January 2025
AstraZeneca, BioPharmaceuticals R&D, Gaithersburg, Maryland, United States.
Physics-Based Machine Learning to Predict Hydration Free Energies for Small Molecules with a Minimal Number of Descriptors: Interpretable and Accurate.
J Phys Chem B
January 2025
School of Computational and Integrative Sciences, Jawaharlal Nehru University, New Delhi 110067, India.
Hydration free energy (HFE) of molecules is a fundamental property having importance throughout chemistry and biology. Calculation of the HFE can be challenging and expensive with classical molecular dynamics simulation-based approaches. Machine learning (ML) models are increasingly being used to predict HFE.
View Article and Find Full Text PDFAutophagy in Plant Health and Disease.
Annu Rev Plant Biol
January 2025
1Gregor Mendel Institute of Molecular Plant Biology, Vienna, Austria; email:
Autophagy has emerged as an essential quality control pathway in plants that selectively and rapidly removes damaged or unwanted cellular components to maintain cellular homeostasis. It can recycle a broad range of cargoes, including entire organelles, protein aggregates, and even invading microbes. It involves the de novo biogenesis of a new cellular compartment, making it intimately linked to endomembrane trafficking pathways.
View Article and Find Full Text PDFThe Dynamics, Degradation, and Afterlives of Pectins: Influences on Cell Wall Assembly and Structure, Plant Development and Physiology, Agronomy, and Biotechnology.
Annu Rev Plant Biol
January 2025
2UMRT INRAE 1158 BioEcoAgro, Biologie des Plantes et Innovation, Université de Picardie Jules Verne, Amiens, France; email:
Pectins underpin the assembly, molecular architecture, and physical properties of plant cell walls and through their effects on cell growth and adhesion influence many aspects of plant development. They are some of the most dynamic components of plant cell walls, and pectin remodeling and degradation by pectin-modifying enzymes can drive developmental programming via physical effects on the cell wall and the generation of oligosaccharides that can act as signaling ligands. Here, we introduce pectin structure and synthesis and discuss pectin functions in plants.
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