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https://www.readbyqxmd.com/read/27765894/microrna-30b-regulates-expression-of-the-sodium-channel-nav1-7-in-nerve-injury-induced-neuropathic-pain-in-the-rat
#1
Jinping Shao, Jing Cao, Jiannan Wang, Xiuhua Ren, Songxue Su, Ming Li, Zhihua Li, Qingzan Zhao, Weidong Zang
Voltage-gated sodium channels, which are involved in pain pathways, have emerged as major targets for therapeutic intervention in pain disorders. Nav1.7, the tetrodotoxin-sensitive voltage-gated sodium channel isoform encoded by SCN9A and predominantly expressed in pain-sensing neurons in the dorsal root ganglion, plays a crucial role in nociception. MicroRNAs are highly conserved, small non-coding RNAs. Through binding to the 3' untranslated region of their target mRNAs, microRNAs induce the cleavage and/or inhibition of protein translation...
2016: Molecular Pain
https://www.readbyqxmd.com/read/27639908/-erythromelalgia-diagnosis-and-therapeutic-approach
#2
S Miranda, M Le Besnerais, V Langlois, Y Benhamou, H Lévesque
Erythromelalgia is a rare intermittent vascular acrosyndrome characterized by the combination of recurrent burning pain, warmth and redness of the extremities. It is considered in its primary form as an autosomal dominant neuropathy related to mutations of SCN9A, the encoding gene of a voltage-gated sodium channel subtype Nav1.7. Secondary erythromelalgia is associated with myeloproliferative disorders, drugs (bromocriptine, calcium channel blockers), or clinical conditions such as rheumatic diseases or viral infection...
September 14, 2016: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/27608006/roles-of-voltage-gated-tetrodotoxin-sensitive-sodium-channels-nav1-3-and-nav1-7-in-diabetes-and-painful-diabetic-neuropathy
#3
REVIEW
Linlin Yang, Quanmin Li, Xinming Liu, Shiguang Liu
Diabetes mellitus (DM) is a common chronic medical problem worldwide; one of its complications is painful peripheral neuropathy, which can substantially erode quality of life and increase the cost of management. Despite its clinical importance, the pathogenesis of painful diabetic neuropathy (PDN) is complex and incompletely understood. Voltage-gated sodium channels (VGSCs) link many physiological processes to electrical activity by controlling action potentials in all types of excitable cells. Two isoforms of VGSCs, NaV1...
2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27541715/genetic-variants-associated-with-thermal-pain-sensitivity-in-a-paediatric-population
#4
Maja Matic, Gerbrich E van den Bosch, Saskia N de Wildt, Dick Tibboel, Ron H N van Schaik
Pain sensitivity is an inherited factor that varies strongly between individuals. We investigated whether genetic polymorphisms in the candidate genes COMT, OPRM1, OPRD1, TAOK3, TRPA1, TRPV1, and SCN9A are contributing to experimental pain variability between children. Our study included 136 children and adolescents (8-18 years). Cold and heat pain thresholds were determined with a Thermal Sensory Analyzer. Women and young children were significantly more sensitive to pain (P < 0.05). After correction for age, gender, reaction time, and correction for multiple testing, OPRM1 118A>G G-allele carriers (AG and GG) rated the hot stimulus as significantly less painful than did OPRM1 118A>G AA genotyped individuals (2[1-5] vs 7 [3-9], respectively; P = 0...
November 2016: Pain
https://www.readbyqxmd.com/read/27529686/voltage-gated-sodium-channel-nav-1-7-promotes-gastric-cancer-progression-through-macc1-mediated-upregulation-of-nhe1
#5
Jianling Xia, Na Huang, Hongxiang Huang, Li Sun, Shaoting Dong, Jinyu Su, Jingwen Zhang, Lin Wang, Li Lin, Min Shi, Jianping Bin, Yulin Liao, Nailin Li, Wangjun Liao
Voltage-gated sodium channels (VGSCs), which are aberrantly expressed in several human cancers, affect cancer cell behavior; however, their role in gastric cancer (GC) and the link between these channels and tumorigenic signaling remain unclear. The aims of this study were to determine the clinicopathological significance and role of the VGSC Nav 1.7 in GC progression and to investigate the associated mechanisms. Here, we report that the SCN9A gene encoding Nav 1.7 was the most abundantly expressed VGSC subtype in GC tissue samples and two GC cell lines (BGC-823 and MKN-28 cells)...
December 1, 2016: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/27525141/advanced-genetic-testing-comes-to-the-pain-clinic-to-make-a-diagnosis-of-paroxysmal-extreme-pain-disorder
#6
Ashley Cannon, Svetlana Kurklinsky, Kimberly J Guthrie, Douglas L Riegert-Johnson
UNLABELLED: Objective. To describe the use of an advanced genetic testing technique, whole exome sequencing, to diagnose a patient and their family with a SCN9A channelopathy. Setting. Academic tertiary care center. Design. CASE REPORT: Case Report. A 61-year-old female with a history of acute facial pain, chronic pain, fibromyalgia, and constipation was found to have a gain of function SCN9A mutation by whole exome sequencing. This mutation resulted in an SCN9A channelopathy that is most consistent with a diagnosis of paroxysmal extreme pain disorder...
2016: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/27514480/ion-channelopathies-in-functional-gi-disorders
#7
Arthur Beyder, Gianrico Farrugia
In the gastrointestinal (GI) tract, abnormalities in secretion, absorption, motility, and sensation have been implicated in functional gastrointestinal disorders (FGIDs). Ion channels play important roles in all these GI functions. Disruptions of ion channels' ability to conduct ions can lead to diseases called ion channelopathies. Channelopathies can result from changes in ion channel biophysical function or expression due to mutations, posttranslational modification, and accessory protein malfunction. Channelopathies are strongly established in the fields of cardiology and neurology, but ion channelopathies are only beginning to be recognized in gastroenterology...
October 1, 2016: American Journal of Physiology. Gastrointestinal and Liver Physiology
https://www.readbyqxmd.com/read/27513275/the-effects-of-bupivacaine-combined-with-different-adjuvants-on-block-onset-and-duration-and-on-ion-channel-expressions-scn9a-trpm-in-sciatic-nerve-block-in-rats
#8
Nurgül Dolu, Levent Şahin, Davut Sinan Kaplan, Tuncer Demir, Hasan Şimşek, Mehrican Şahin, Beyhan Cengiz
BACKGROUND/AIM: The objective of this experimental study was to examine the effects of epinephrine, dexmedetomidine, and clonidine added as adjuvants to bupivacaine on block onset and effect times, as well as the effects on the Na+ and Ca+2 channel gene expressions, which may indicate cell damage in the sciatic nerve cell membrane. MATERIALS AND METHODS: Rats were divided into five groups: Group S (sham), saline solution; Group B, bupivacaine; Group BD, bupivacaine + dexmedetomidine; Group BC, bupivacaine + clonidine; and Group BE, bupivacaine + epinephrine...
April 19, 2016: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/27504264/atypical-benign-partial-epilepsy-of-childhood-with-acquired-neurocognitive-lexical-semantic-and-autistic-spectrum-disorder
#9
Nicholas M Allen, Judith Conroy, Thierry Deonna, Dara McCreary, Paul McGettigan, Cathy Madigan, Imogen Carter, Sean Ennis, Sally A Lynch, Amre Shahwan, Mary D King
Atypical benign partial epilepsy (ABPE) of childhood or pseudo-Lennox syndrome is a form of idiopathic focal epilepsy characterized by multiple seizure types, focal and/or generalized epileptiform discharges, continuous spike-wave during sleep (CSWS), and sometimes reversible neurocognitive deficits. There are few reported cases of ABPE describing detailed correlative longitudinal follow-up of the various associated neurocognitive, language, social communicative, or motor deficits, in parallel with the epilepsy...
2016: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/27503742/familial-gain-of-function-nav1-9-mutation-in-a-painful-channelopathy
#10
Chongyang Han, Yang Yang, Rene H Te Morsche, Joost P H Drenth, Juan M Politei, Stephen G Waxman, Sulayman D Dib-Hajj
OBJECTIVE: Gain-of-function mutations in Nav1.9 have been identified in three families with rare heritable pain disorders, and in patients with painful small-fibre neuropathy. Identification and functional assessment of new Nav1.9 mutations will help to elucidate the phenotypic spectrum of Nav1.9 channelopathies. METHODS: Patients from a large family with early-onset pain symptoms were evaluated by clinical examination and genomic screening for mutations in SCN9A and SCN11A...
August 8, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27363506/efficacy-safety-and-tolerability-of-lacosamide-in-patients-with-gain-of-function-nav1-7-mutation-related-small-fiber-neuropathy-study-protocol-of-a-randomized-controlled-trial-the-lenss-study
#11
Bianca T A de Greef, Ingemar S J Merkies, Margot Geerts, Catharina G Faber, Janneke G J Hoeijmakers
BACKGROUND: Small fiber neuropathy generally leads to considerable pain and autonomic symptoms. Gain-of-function mutations in the SCN9A- gene, which codes for the Nav1.7 voltage-gated sodium channel, have been reported in small fiber neuropathy, suggesting an underlying genetic basis in a subset of patients. Currently available sodium channel blockers lack selectivity, leading to cardiac and central nervous system side effects. Lacosamide is an anticonvulsant, which blocks Nav1.3, Nav1...
2016: Trials
https://www.readbyqxmd.com/read/27315482/near-perfect-synaptic-integration-by-nav1-7-in-hypothalamic-neurons-regulates-body-weight
#12
Tiago Branco, Adam Tozer, Christopher J Magnus, Ken Sugino, Shinsuke Tanaka, Albert K Lee, John N Wood, Scott M Sternson
Neurons are well suited for computations on millisecond timescales, but some neuronal circuits set behavioral states over long time periods, such as those involved in energy homeostasis. We found that multiple types of hypothalamic neurons, including those that oppositely regulate body weight, are specialized as near-perfect synaptic integrators that summate inputs over extended timescales. Excitatory postsynaptic potentials (EPSPs) are greatly prolonged, outlasting the neuronal membrane time-constant up to 10-fold...
June 16, 2016: Cell
https://www.readbyqxmd.com/read/27211852/a-novel-mutation-of-alpha-galactosidase-a-gene-causes-fabry-disease-mimicking-primary-erythromelalgia-in-a-chinese-family
#13
Wei Ge, Bin Wei, Hao Zhu, Zhigang Miao, Weimin Zhang, Cuihua Leng, Jizhen Li, Dan Zhang, Miao Sun, Xingshun Xu
PURPOSE: Fabry disease is an X-linked genetic disorder caused by the mutations of alpha-galactosidase A (GLA, MIM 300644) gene presenting with various clinical symptoms including small-fiber peripheral neuropathy and limb burning pain. Here, we reported a Chinese pedigree with the initial diagnosis of primary erythromelalgia in an autosomal dominant (AD)-inherited pattern. METHODS: Mutation analysis of SCN9A and GLA genes by direct sequencing and functional analysis of a novel mutation of GLA in cells were performed...
May 22, 2016: International Journal of Neuroscience
https://www.readbyqxmd.com/read/27061230/the-abcb1-rs9282564-ag-and-tt-genotypes-and-the-comt-rs4680-aa-genotype-are-less-frequent-in-deceased-patients-with-opioid-addiction-than-in-living-patients-with-opioid-addiction
#14
Dorte J Christoffersen, Per Damkier, Søren Feddersen, Sören Möller, Jørgen L Thomsen, Charlotte Brasch-Andersen, Kim Brøsen
Sudden death due to acute intoxication occurs frequently in patients with opioid addiction (OA). To examine whether certain genotypes were associated with this, we examined the frequencies of 29 SNPs located in candidate genes related to opioid pharmacology: ABCB1, OPRM1, UGT2B7, CYP3A5, CYP2B6, CYP2C19, CYP2D6, COMT, KCNJ6 and SCN9A in 274 deceased patients with OA (DOA), 309 living patients with OA (LOA) and in 394 healthy volunteers (HV). The main hypothesis of the study was that subjects homozygous for the variant 3435T in ABCB1 (rs1045642) occur more frequently in DOA than in LOA and HV because morphine and methadone more readily cross the blood barrier in these subjects due to a lower efflux transporter activity of the ABCB1 (p-glycoprotein) transporter...
October 2016: Basic & Clinical Pharmacology & Toxicology
https://www.readbyqxmd.com/read/27019722/high-content-screening-identifies-a-role-for-na-channels-in-insulin-production
#15
Marta Szabat, Honey Modi, Reshma Ramracheya, Vroni Girbinger, Forson Chan, Jason T C Lee, Micah Piske, Sepehr Kamal, Yu Hsuan Carol Yang, Andrea Welling, Patrik Rorsman, James D Johnson
Insulin production is the central feature of functionally mature and differentiated pancreatic β-cells. Reduced insulin transcription and dedifferentiation have been implicated in type 2 diabetes, making drugs that could reverse these processes potentially useful. We have previously established ratiometric live-cell imaging tools to identify factors that increase insulin promoter activity and promote β-cell differentiation. Here, we present a single vector imaging tool with eGFP and mRFP, driven by the Pdx1 and Ins1 promoters, respectively, targeted to the nucleus to enhance identification of individual cells in a high-throughput manner...
December 2015: Royal Society Open Science
https://www.readbyqxmd.com/read/26920677/inherited-erythromelalgia-due-to-mutations-in-scn9a-natural-history-clinical-phenotype-and-somatosensory-profile
#16
Aoibhinn McDonnell, Betsy Schulman, Zahid Ali, Sulayman D Dib-Hajj, Fiona Brock, Sonia Cobain, Tina Mainka, Jan Vollert, Sanela Tarabar, Stephen G Waxman
Inherited erythromelalgia, the first human pain syndrome linked to voltage-gated sodium channels, is widely regarded as a genetic model of human pain. Because inherited erythromelalgia was linked to gain-of-function changes of sodium channel Na(v)1.7 only a decade ago, the literature has mainly consisted of reports of genetic and/or clinical characterization of individual patients. This paper describes the pattern of pain, natural history, somatosensory profile, psychosocial status and olfactory testing of 13 subjects with primary inherited erythromelalgia with mutations of SCN9A, the gene encoding Na(v)1...
April 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/26634308/endogenous-opioids-contribute-to-insensitivity-to-pain-in-humans-and-mice-lacking-sodium-channel-nav1-7
#17
Michael S Minett, Vanessa Pereira, Shafaq Sikandar, Ayako Matsuyama, Stéphane Lolignier, Alexandros H Kanellopoulos, Flavia Mancini, Gian D Iannetti, Yury D Bogdanov, Sonia Santana-Varela, Queensta Millet, Giorgios Baskozos, Raymond MacAllister, James J Cox, Jing Zhao, John N Wood
Loss-of-function mutations in the SCN9A gene encoding voltage-gated sodium channel Nav1.7 cause congenital insensitivity to pain in humans and mice. Surprisingly, many potent selective antagonists of Nav1.7 are weak analgesics. We investigated whether Nav1.7, as well as contributing to electrical signalling, may have additional functions. Here we report that Nav1.7 deletion has profound effects on gene expression, leading to an upregulation of enkephalin precursor Penk mRNA and met-enkephalin protein in sensory neurons...
December 4, 2015: Nature Communications
https://www.readbyqxmd.com/read/26549885/new-mendelian-disorders-of-painlessness
#18
REVIEW
Michael S Nahorski, Ya-Chun Chen, C Geoffrey Woods
Erroneous activation of the pain-sensing system, as in chronic or neuropathic pain, represents a major health burden with insufficient treatment options. However, the study of genetic disorders rendering individuals completely unable to feel pain offers hope. All causes of congenital painlessness affect nociceptors, evolutionarily conserved specialist neurons able to sense all type of tissue damage. The discovery of new genes essential for sensing pain (SCN11A, PRDM12, and CLTCL1) has provided unexpected insights into the biological mechanisms that drive distinct stages of nociception...
November 2015: Trends in Neurosciences
https://www.readbyqxmd.com/read/26419464/primary-erythromelalgia-a-review
#19
REVIEW
Zhaoli Tang, Zhao Chen, Beisha Tang, Hong Jiang
Primary erythromelalgia (PE ORPHA90026) is a rare autosomal dominant neuropathy characterized by the combination of recurrent burning pain, warmth and redness of the extremities. The incidence rate of PE ranges from 0.36 to 1.1 per 100,000 persons. Gender ratio differs according to different studies and no evidence showed a gender preference. Clinical onset of PE is often in the first decade of life. Burning pain is the most predominant symptom and is usually caused and precipitated by warmth and physical activities...
2015: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/26292973/scn9a-associated-congenital-insensitivity-to-pain-and-anosmia-in-an-irish-patient
#20
LETTER
Petya Bogdanova-Mihaylova, Michael D Alexander, Raymond P J Murphy, Sinéad M Murphy
No abstract text is available yet for this article.
June 2015: Journal of the Peripheral Nervous System: JPNS
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