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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 1,451-1,460 of 1,773 results

PhysiologyGenetics

Role of putative voltage-sensor countercharge D4 in regulating gating properties of CaV1.2 and CaV1.3 calcium channels

CHANNELS, 2018 • May 22, 2018

This study investigates the role of a conserved negatively charged residue (D4) in the voltage-sensing domain IV (VSD IV) of CaV1.2 and CaV1.3 calcium channels, focusing on its impact on channel gatin...

KEY FINDING: In both CaV1.3 and CaV1.2 channels, a mutation neutralizing the D4 charge (D4N) in voltage-sensing domain IV (VSD IV) resulted in a right-shift of the voltage-dependence of activation by approximately 5 mV.

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PharmacologyNeurologyGenetics

Accumulation of 8,9-unsaturated sterols drives oligodendrocyte formation and remyelination

Nature, 2018 • August 1, 2018

This study elucidates a unifying mechanism for small-molecule enhancers of oligodendrocyte formation: the elevation of 8,9-unsaturated sterol intermediate levels via inhibition of cholesterol biosynth...

KEY FINDING: A broad range of pro-myelinating small molecules function by directly inhibiting CYP51, TM7SF2, or EBP, enzymes within the cholesterol biosynthesis pathway.

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Regenerative MedicineNeurologyGenetics

Denervation-activated STAT3-IL6 signaling in fibro-adipogenic progenitors promotes myofibers atrophy and fibrosis

Nat Cell Biol, 2018 • August 1, 2018

This study reveals a previously unappreciated function of FAPs as a source of pro-atrophic and pro-fibrotic signals in denervated muscles, particularly due to the aberrant activation of IL6-STAT3 sign...

KEY FINDING: Denervation leads to the accumulation of FAPs in skeletal muscles, without a corresponding increase in macrophages or muscle stem cells.

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AgingNeurologyGenetics

Arginine Methyltransferase PRMT8 Provides Cellular Stress Tolerance in Aging Motoneurons

The Journal of Neuroscience, 2018 • August 29, 2018

The study identifies PRMT8 as a key regulator of stress tolerance in spinal cord motoneurons. PRMT8 maintains ADMA levels, protecting against age-related DNA damage and promoting cell survival. Loss o...

KEY FINDING: Spinal cord motoneurons exhibit high levels of asymmetric dimethyl arginines (ADMAs), providing protection against environmental stress.

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Regenerative MedicineNeurologyGenetics

The effect of Jun dimerization on neurite outgrowth and motif binding

Mol Cell Neurosci, 2018 • October 1, 2018

This study investigates the genomic locations bound by Jun in DRG neurons following a peripheral axotomy, observing that the majority of Jun’s injury-responsive binding sites are on putative enhancer ...

KEY FINDING: The majority of Jun's injury-responsive changes in DNA binding occur at putative enhancer elements, not proximal to transcription start sites.

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Genetics

Combining genotypic and phenotypic analyses on single mutant zebrafish larvae

MethodsX, 2018 • March 14, 2018

The presented method combines genotyping and phenotype analyses of mutant zebrafish larvae from heterozygous incrosses. The procedure involves genotyping the larval tail after transection and performin...

KEY FINDING: The method allows for both genotyping and phenotype analyses of mutant zebrafish larvae from heterozygous zebrafish incrosses.

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GeneticsDermatology

An ex vivo RNA trans-splicing strategy to correct human generalized severe epidermolysis bullosa simplex

British Journal of Dermatology, 2019 • January 1, 2019

This study presents an ex vivo RNA trans-splicing-based therapeutic approach to correct the phenotype of generalized severe epidermolysis bullosa simplex (EBS-gen sev). The researchers stably transduc...

KEY FINDING: Transplanted skin equivalents generated from trans-splicing-corrected patient keratinocytes showed a stable and blister-free epidermis.

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Regenerative MedicineGenetics

Differences in neural stem cell identity and differentiation capacity drive divergent regenerative outcomes in lizards and salamanders

PNAS, 2018 • August 13, 2018

This study investigates the divergent tail regeneration outcomes in lizards and salamanders, focusing on the role of neural stem cells (NSCs) in the spinal cords of regenerated tails. The research rev...

KEY FINDING: Salamander NSCs can differentiate into multiple neural lineages, while lizard NSCs are restricted and primarily form astrocytes.

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Spinal Cord InjuryImmunologyGenetics

Local inhibition of matrix metalloproteinases reduced M2 macrophage activity and impeded recovery in spinal cord transected rats after treatment with fibroblast growth factor-1 and nerve grafts

Neural Regeneration Research, 2018 • August 1, 2018

This study examined the impact of matrix metalloproteinase (MMP) inhibition on macrophage migration and spinal function recovery in rats with completely transected spinal cords treated with fibroblast...

KEY FINDING: MMP-9, but not MMP-2, was upregulated in the graft area of rats treated with fibroblast growth factor-1 and peripheral nerve grafts, suggesting a role in the regenerative process.

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OncologyPain ManagementGenetics

Analgesic effect of AG490, a Janus kinase inhibitor, on oxaliplatin-induced acute neuropathic pain

Neural Regen Res, 2018 • June 1, 2018

This study investigates the analgesic effect of AG490 on oxaliplatin-induced acute neuropathic pain in rats. The findings demonstrate that AG490 attenuates oxaliplatin-induced acute neuropathic pain b...

KEY FINDING: AG490 treatment significantly increased paw withdrawal threshold and tail withdrawal latency in rats with oxaliplatin-induced neuropathic pain, indicating reduced sensitivity to mechanical and cold stimuli.

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