Cells, 2022 Increased collagen-derived advanced glycation end-products (AGEs) are consistently related to painful diseases, including osteoarthritis, diabetic neuropathy, and neurodegenerative disorders. We have recently developed a model combining a two-dimensional
Michelle Cristiane Bufalo +9 more
doaj +1 more source
Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]
, 2018 The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
core +1 more source
Nav1.7 and other voltage-gated sodium channels as drug targets for pain relief [PDF]
, 2016 INTRODUCTION: Chronic pain is a massive clinical problem. We discuss the potential of subtype selective sodium channel blockers that may provide analgesia with limited side effects.
Emery, EC, Luiz, AP, Wood, JN
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Familial episodic limb pain in kindreds with novel Nav1.9 mutations.
PLoS ONE, 2018 We previously performed genetic analysis in six unrelated families with infantile limb pain episodes, characterized by cold-induced deterioration and mitigation in adolescence, and reported two new mutations p.R222H/S in SCN11A responsible for these ...
Risako Kabata +27 more
doaj +1 more source
ABCC9 Is Downregulated and Prone to Microsatellite Instability on ABCC9tetra in Canine Breast Cancer
Frontiers in Veterinary Science, 2022 Tumorigenesis is associated with metabolic abnormalities and genomic instability. Microsatellite mutations, including microsatellite instability (MSI) and loss of heterozygosity (LOH), are associated with the functional impairment of some tumor-related ...
Pan Hao +5 more
doaj +1 more source
Macrophage-derived insulin-like growth factor-1 is a key neurotrophic and nerve-sensitizing factor in pain associated with endometriosis [PDF]
, 2019 Endometriosis is a common incurable inflammatory disorder that is associated with debilitating pelvic pain in women. Macrophages are central to the pathophysiology of endometriosis: they dictate the growth and vascularization of endometriosis lesions and
Dorning, Ashley +7 more
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Differential expression of SCN11A in amyotrophic lateral sclerosis.
, 2022 Neurodegenerative diseases that affect the motor neurons, including amyotrophic lateral sclerosis (ALS), have little treatment options and are generally rapidly fatal (1, 2). We harnessed the power of unbiased, whole transcriptome differential gene expression analysis, utilizing primary patient cells and tissues to discover genes whose expression ...
openaire +1 more source
Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels [PDF]
, 2015 Voltage-gated ion channels (VGICs) are membrane proteins that switch from a closed to open state in response to changes in membrane potential, thus enabling ion fluxes across the cell membranes.
Alessandro eMedoro +7 more
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A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain
Frontiers in Neuroscience, 2019 Voltage-gated sodium channel Nav1.9 is a threshold channel that regulates action potential firing. Nav1.9 is preferentially expressed in myenteric neurons, and small-diameter dorsal root ganglion (DRG) and trigeminal ganglion neurons including ...
Jianying Huang +17 more
doaj +1 more source
P2Y Receptors Sensitize Mouse and Human Colonic Nociceptors [PDF]
, 2016 Activation of visceral nociceptors by inflammatory mediators contributes to visceral hypersensitivity and abdominal pain associated with many gastrointestinal disorders.
Baker, MD +11 more
core +1 more source