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Generation of an induced pluripotent stem cell line (SMBCi022-A) from a patient with Fabry disease.
Stem Cell Res
January 2025
Department of Orthopedic Surgery, The First Affiliated Hospital of Shandong First Medical University, Ji'nan 250014 Shandong, China; Biomedical Sciences College, Shandong Medicinal Biotechnology Centre, Shandong First Medical University& Shandong Academy of Medical Sciences, Ji'nan 250062 Shandong, China; Key Lab for Biotech-Drugs of National Health Commission, Ji'nan 250062 Shandong, China; Key Lab for Rare & Uncommon Diseases of Shandong Province, Ji'nan 250062 Shandong, China. Electronic address:
Fabry disease (FD) is a systemic disease in which globotriaosylceramide and other naturally occurring glycosphingolipid accumulate in various tissues throughout the body due to mutation of α-galactosidase A (GLA). These induced pluripotent stem cells (iPSCs) were generated from a 10-year-old male patient's urine carrying the GLA c.1080_1082del Fabry disease mutation.
View Article and Find Full Text PDFUnraveling complexity and leveraging opportunities in uncommon breast cancer subtypes.
NPJ Breast Cancer
January 2025
Women's Cancer Research Center, Magee-Womens Research Institute, UPMC Hillmann Cancer Center, Pittsburgh, PA, USA.
Special histologic subtypes of breast cancer (BC) exhibit unique phenotypes and molecular profiles with diagnostic and therapeutic implications, often differing in behavior and clinical trajectory from common BC forms. Novel methodologies, such as artificial intelligence may improve classification. Genetic predisposition plays roles in a subset of cases.
View Article and Find Full Text PDFTPMS-Gyroid Scaffold-Mediated Up-Regulation of ITGB1 for Enhanced Cell Adhesion and Immune-Modulatory Osteogenesis.
Adv Healthc Mater
January 2025
Department of Orthopedic Surgery, The First Affiliated Hospital of Shandong First Medical University, Ji'nan, Shandong, 250014, China.
The porous structure is crucial in bone tissue engineering for promoting osseointegration. Among various structures, triply periodic minimal surfaces (TPMS) -Gyroid has been extensively studied due to its superior mechanical and biological properties. However, previous studies have given limited attention to the impact of unit cell size on the biological performance of scaffolds.
View Article and Find Full Text PDFMethods for detecting, building, and improving tryptophan mannosylation in glycoprotein structures.
Protein Sci
February 2025
York Structural Biology Laboratory, Department of Chemistry, University of York, York, UK.
Tryptophan mannosylation, the covalent addition of an α-ᴅ-mannose sugar to a tryptophan side chain, is a post-translational modification (PTM) that can affect protein stability, folding, and interactions. Compared to other forms of protein glycosylation, it is relatively uncommon but is affected by conformational anomalies and modeling errors similar to those seen in N- and O-glycans in the Protein Data Bank (PDB). In this work, we report methods for detecting, building, and improving mannose structures linked to tryptophans.
View Article and Find Full Text PDFAn orphan viral genome with unclear evolutionary status sheds light on a distinct lineage of flavi-like viruses infecting plants.
Virus Evol
January 2025
Institute of Western Agriculture, Chinese Academy of Agricultural Sciences, Changji 831100, China.
Advancements in high-throughput sequencing and associated bioinformatics methods have significantly expanded the RNA virus repertoire, including novel viruses with highly divergent genomes encoding "orphan" proteins that apparently lack homologous sequences. This absence of homologs in routine sequence similarity search complicates their taxonomic classification and raises a fundamental question: Do these orphan viral genomes represent viruses? In 2022, an orphan viral genome encoding a large polyprotein was identified in alfalfa () and thrips (), and named Snake River alfalfa virus (SRAV). SRAV was initially proposed as an uncommon flavi-like virus identified in a plant host distantly related to family .
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