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Novel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental Disorders.
Mol Genet Genomic Med
February 2025
Department of Chemistry and Molecular Biology, Gothenburg University, Gothenburg, Sweden.
Background: SYNGAP1 encodes a Ras/Rap GTPase-activating protein that is predominantly expressed in the brain with the functional roles in regulating synaptic plasticity, spine morphogenesis, and cognition function. Pathogenic variants in SYNGAP1 have been associated with a spectrum of neurodevelopmental disorders characterized by developmental delays, intellectual disabilities, epilepsy, hypotonia, and the features of autism spectrum disorder. The aim of this study was to identify a novel SYNGAP1 gene variant linked to neurodevelopmental disorders and to evaluate the pathogenicity of the detected variant.
View Article and Find Full Text PDFLate-Onset Krabbe Disease: Case Report of Two Patients in a Chinese Family and Literature Review.
Mol Genet Genomic Med
February 2025
Department of Orthopeadic Surgery, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, People's Republic of China.
Background: Krabbe disease (KD; globoid cell leucodystrophy) is a rare autosomal recessive lipid storage disorder that affects the white matter of the peripheral and central nervous. Late-onset KD is less frequently diagnosed and often presents with milder symptoms, making accurate diagnosis challenging, especially when distinguishing it from peripheral neuropathy. In this report, we present two cases of late-onset KD in a Chinese family.
View Article and Find Full Text PDFDendriform pulmonary ossification in military combat veterans: A case series.
Respir Med Case Rep
December 2024
Division of Environmental and Occupational Health Sciences, National Jewish Health, Denver, CO, USA.
Dendriform pulmonary ossification (DPO) is a rare condition characterized by mature bone formation in the lung. DPO has been linked to various conditions, but little is known about the link between DPO and hazardous airborne exposures. We queried research databases of military personnel evaluated for deployment-related respiratory diseases at two occupational pulmonary medicine clinics (Colorado, USA) for diagnoses of DPO, and summarized demographics, Gulf War military deployment history, medical history, and pulmonary function testing.
View Article and Find Full Text PDFA study on the production of extracellular vesicles derived from novel immortalized human placental mesenchymal stromal cells.
Sci Rep
January 2025
International Research Center for Biological Sciences, Ministry of Science and Technology, Shanghai Ocean University, No. 999 Hucheng Ring Road, Shanghai, 201306, China.
Extracellular vesicles (EVs) are not only involved in cell-to-cell communications but have other functions as "garbage bags", as bringing nutrients to cells, and as inducing mineral during bone formation and ectopic calcification. These minuscule entities significantly contribute to the regulation of bodily functions. However, the clinical application of EVs faces challenges due to limited production yield and targeting efficiency.
View Article and Find Full Text PDFAdvances in the Development and Application of Human Organoids: Techniques, Applications, and Future Perspectives.
Cell Transplant
January 2025
Department of Laboratory Medicine, Lishui Second People's Hospital, Lishui, China.
Organoids are three-dimensional (3D) cell cultures derived from human pluripotent stem cells or adult stem cells that recapitulate the cellular heterogeneity, structure, and function of human organs. These microstructures are invaluable for biomedical research due to their ability to closely mimic the complexity of native tissues while retaining human genetic material. This fidelity to native organ systems positions organoids as a powerful tool for advancing our understanding of human biology and for enhancing preclinical drug testing.
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