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Making Spinal Cord Injury (SCI) Research Accessible to Everyone. Simplified summaries of the latest research, designed for patients, caregivers and anybody who's interested.

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Genetics Research

Browse the latest research summaries in the field of genetics for spinal cord injury patients and caregivers.

Showing 1,131-1,140 of 1,773 results

Regenerative MedicineNeurologyGenetics

Orally administered boldine reduces muscle atrophy and promotes neuromuscular recovery in a rodent model of delayed nerve repair

Frontiers in Cellular Neuroscience, 2023 • September 27, 2023

This study assessed the efficacy of daily oral boldine administration in a rodent model of prolonged denervation and delayed nerve repair. Boldine administration preserved the evoked muscle for 2 week...

KEY FINDING: Daily boldine administration significantly enhanced an evoked response in the tibialis anterior muscle at 2  weeks after common peroneal nerve transection.

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NeurologyGenetics

Fibroblast growth factor signaling in axons: from development to disease

Cell Communication and Signaling, 2023 • August 18, 2023

This review discusses the role of the FGF system in axons, providing an original view of this multipurpose family of growth factors in nervous system (dys)function. The FGF family regulates nervous sy...

KEY FINDING: FGF2 promotes axonal elongation and branching in cultured DRGs neurons through activation of FGFR1.

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Cardiovascular ScienceEndocrinologyGenetics

Screening and verifying the mutations in the LDLR and APOB genes in a Chinese family with familial hypercholesterolemia

Lipids in Health and Disease, 2023 • October 2, 2023

This study identified a novel frameshift insertion in the LDLR gene and several variants in the APOB gene in a Chinese family with familial hypercholesterolemia. The cumulative effect of these genetic...

KEY FINDING: A novel frameshift insertion (c.497delinsGGATCCCCCAGCTGCATCCCCCAG: p. Ala166fs) was identified in the LDLR gene, preventing proper expression of LDLR on the cell membrane.

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Spinal Cord InjuryRegenerative MedicineGenetics

Function of GSK‑3 signaling in spinal cord injury

EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2023 • August 10, 2023

The pathophysiological process of SCI is quite complex; nonetheless, the poor prognosis of patients with SCI may mainly be due to glial scar formation and irreversible neuron loss. SCI decreases the r...

KEY FINDING: SCI can decrease the phosphory­lated (p)/total (t)‑GSK‑3β ratio, which leads to an increase in apoptosis, whereas treatment with GSK‑3 inhibitors can promote neurogenesis.

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Regenerative MedicineGeneticsOrthopedics

Hypoxic Preconditional Engineering Small Extracellular Vesicles Promoted Intervertebral Disc Regeneration by Activating Mir-7-5p/NF-Κb/Cxcl2 Axis

Advanced Science, 2023 • October 23, 2023

This study investigates the use of hypoxic preconditioning to improve the therapeutic function of MSC-derived sEVs for treating IVD degeneration and chronic lower back pain. HP-sEVs were found to alle...

KEY FINDING: Hypoxic preconditioning enhances the therapeutic function of MSC-derived sEVs for IVD regeneration.

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Regenerative MedicineNeurologyGenetics

Small leucine-rich proteoglycans inhibit CNS regeneration by modifying the structural and mechanical properties of the lesion environment

Nature Communications, 2023 • November 8, 2023

This study investigates the differences in ECM composition after CNS injury between species with high (zebrafish) and low (mammals) regenerative capacities. SLRPs are identified as inhibitory ECM fact...

KEY FINDING: SLRPs, including chondroadherin, fibromodulin, lumican, and prolargin, are enriched in rodent and human CNS lesions but not in zebrafish.

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Spinal Cord InjuryParticipationGenetics

Subacute and Chronic Spinal Cord Injury: A Scoping Review of Epigenetics and Secondary Health Conditions

Epigenetics Insights, 2023 • September 11, 2023

This scoping review examines the state of the science in epigenetics and secondary complications following SCI. The review identified 23 articles that investigated SCI and examined epigenetic regulati...

KEY FINDING: The review found that most studies focused on histone modification and DNA methylation as epigenetic mechanisms in SCI, primarily in animal models.

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NeurologyGeneticsGastroenterology

Degenerative Cervical Myelopathy induces sex-specific dysbiosis in mice

Frontiers in Microbiology, 2023 • October 20, 2023

This study demonstrates that DCM induces sexually dimorphic gut dysbiosis in mice, with distinct changes in the gut microbiota composition between male and female mice. The study found that DCM is ass...

KEY FINDING: DCM induces gut dysbiosis in mice, and the dysbiosis is sexually dimorphic, with more pronounced changes in male mice compared to females.

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Spinal Cord InjuryImmunologyGenetics

Inhibition of UTX/KDM6A improves recovery of spinal cord injury by attenuating BSCB permeability and macrophage infiltration through the MLCK/p‑MLC pathway

Journal of Neuroinflammation, 2023 • October 18, 2023

This study investigates the role of UTX in regulating BSCB permeability following SCI. The findings reveal that conditional ablation of UTX in ECs reduces vascular permeability and enhances neurologic...

KEY FINDING: Conditional UTX deletion in endothelial cells reduces BSCB permeability, decreases inflammatory cell infiltration and ROS production, and improves neurological function recovery after SCI.

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OncologyPharmacologyGenetics

The regulatory role and clinical application prospects of circRNA in the occurrence and development of CNS tumors

CNS Neuroscience & Therapeutics, 2024 • January 1, 2024

CNS tumors are complex diseases with specific pathogeneses not fully understood and poor prognosis, often resistant to therapies. ncRNAs, including circRNAs, significantly contribute to tumor initiati...

KEY FINDING: CircRNAs participate in multiple molecular mechanisms of cellular normal or pathophysiology processes, especially as miRNA sponges in the cytoplasm, activating the modulation of target genes via miRNA response elements.

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