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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 251-260 of 1,773 results

NeurologyGeneticsSurgery

Myasthenia gravis complicating the surgical management of achondroplasia: a case‑based update

Child's Nervous System, 2022 • July 30, 2022

This case report describes an 11-year-old girl with achondroplasia who presented with symptoms suggestive of worsening lumbar stenosis. However, she was subsequently diagnosed with myasthenia gravis. ...

KEY FINDING: This paper reports the first documented case of myasthenia gravis occurring in a patient with achondroplasia.

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Spinal Cord InjuryGeneticsBioinformatics

Analysis of gene expression profiles in two spinal cord injury models

European Journal of Medical Research, 2022 • August 4, 2022

This study analyzes gene expression changes in two different rat models of spinal cord injury (SCI) using RNA sequencing. The researchers found distinct gene expression patterns in the two SCI models,...

KEY FINDING: The study identified significant differences in gene expression between the two SCI models, particularly within the first two weeks after injury.

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Spinal Cord InjuryNeurologyGenetics

Ubiquitin ligase Triad1 promotes neurite outgrowth by inhibiting MDM2-mediated ubiquitination of the neuroprotective factor pleiotrophin

J. Biol. Chem., 2022 • August 31, 2022

This study investigates the role of Triad1 in promoting astrocyte-dependent neurite outgrowth to accelerate recovery after spinal cord injury (SCI) by inhibiting MDM2-mediated PTN ubiquitination. The ...

KEY FINDING: Triad1 overexpression promoted PTN protein levels, NGF expression, BDNF expression, astrocyte and neuronal viability, and neurite outgrowth but suppressed astrocyte apoptosis.

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Spinal Cord InjuryRegenerative MedicineGenetics

MiR-31 improves spinal cord injury in mice by promoting the migration of bone marrow mesenchymal stem cells

PLOS ONE, 2022 • September 6, 2022

This study aimed to investigate the effects of miR-31 on the migration of bone marrow mesenchymal stem cells (BMSCs) and the regulation of MMP-2 and CXCR4 expression in vitro and in vivo. In vitro exp...

KEY FINDING: MiR-31 promotes the proliferation of BMSCs in vitro, as demonstrated by CCK-8 and Cell-cycle assays.

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Spinal Cord InjuryNeurologyGenetics

Inflammation: A Target for Treatment in Spinal Cord Injury

Cells, 2022 • August 29, 2022

This review highlights the significant role of inflammation in the pathophysiology of SCI and the urgent need for effective treatments. The authors discuss various therapeutic strategies to regulate t...

KEY FINDING: Inflammation following SCI is a complex process with both beneficial and detrimental effects, requiring careful modulation for effective treatment.

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Spinal Cord InjuryPharmacologyGenetics

Spinal Stroke: Outcome Attenuation by Erythropoietin and Carbamylated Erythropoietin and Its Prediction by Sphingosine-1-Phosphate Serum Levels in Mice

Int. J. Mol. Sci., 2022 • August 23, 2022

This study investigates the effects of recombinant human erythropoietin (rhEPO) and carbamylated EPO (cEPO-Fc) on mice after spinal cord ischemia (SCI) and the prognostic value of sphingosin-1-phospha...

KEY FINDING: Treatment with rhEPO and cEPO-Fc significantly improves the neurological outcome of mice after spinal cord ischemia.

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GeneticsOrthopedicsMusculoskeletal Medicine

Research progress of exosomes in orthopedics

Frontiers in Genetics, 2022 • August 23, 2022

Exosomes are nano-vesicles involved in cell-to-cell communication, impacting processes like cell proliferation, migration, and angiogenesis, with implications for various diseases, including orthopedi...

KEY FINDING: Mesenchymal stem cell (MSC) exosomes participate in tissue repair and injury processes, suggesting their potential as drug carriers. Macrophage-derived exosomes can affect the tissue microenvironment by modulating immune function and tend to accumulate in cancer cells due to specific surface proteins.

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Cardiovascular ScienceNeurologyGenetics

Microvasculopathy in spinal muscular atrophy is driven by a reversible autonomous endothelial cell defect

J Clin Invest, 2022 • November 1, 2022

This study identifies microvascular defects in SMA patients, transgenic SMA mice, and cellular models with SMN deficiency. It reveals a widespread microvascular pathology that is amenable to systemica...

KEY FINDING: SMA patients exhibit retinal vascular defects, characterized by a less dense and less complex primary retinal vasculature compared to age-matched controls.

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Spinal Cord InjuryNeurologyGenetics

Role of necroptosis in traumatic brain and spinal cord injuries

Journal of Advanced Research, 2022 • December 22, 2022

This review provides an overview of the necroptosis signaling pathway and execution in the context of CNS trauma. The review discusses the temporal pattern of RIPK1/3 expression following CNS trauma, ...

KEY FINDING: RIPK1, RIPK3, and MLKL expression increases in the hours to days after TBI, but the temporal patterns of these proteins differ between SCI and TBI.

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Spinal Cord InjuryImmunologyGenetics

Melatonin Attenuates Spinal Cord Injury in Mice by Activating the Nrf2/ARE Signaling Pathway to Inhibit the NLRP3 Inflammasome

Cells, 2022 • September 8, 2022

This study investigates the neuroprotective effects of melatonin on spinal cord injury (SCI) in mice, focusing on the Nrf2/ARE/NLRP3 pathway. The results demonstrate that melatonin promotes neuromotor...

KEY FINDING: Melatonin promotes the recovery of neuromotor function by inhibiting neuroinflammation and reducing neuronal death.

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