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SCN9A genes

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https://www.readbyqxmd.com/read/29500686/variable-epilepsy-phenotypes-associated-with-heterozygous-mutation-in-the-scn9a-gene-report-of-two-cases
#1
Cuiwei Yang, Yi Hua, Weiqin Zhang, Jialu Xu, Lu Xu, Feng Gao, Peifang Jiang
Up to now, SCN9A mutations encoding Nav1.7 have been limited to inherited pain syndromes. A few of pathogenic SCN9A mutations with or without SCN1A mutations have been identified in epileptic patients. Here, we report two heterozygous SCN9A mutations with no SCN1A mutations, which are associated with variable epilepsy phenotypes and explored the possibility of SCN9A contributing to a multifactorial etiology for epilepsy. Our findings suggest that the two SCN9A mutations (c.980G>A chr2:167149868 p.G327E; c...
March 2, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/29446526/the-scn9a-channel-and-plasma-membrane-depolarization-promote-cellular-senescence-through-rb-pathway
#2
Marine Warnier, Jean-Michel Flaman, Christophe Chouabe, Clotilde Wiel, Baptiste Gras, Audrey Griveau, Elena Blanc, Jean-Philippe Foy, Pauline Mathot, Pierre Saintigny, Fabien Van Coppenolle, David Vindrieux, Nadine Martin, David Bernard
Oncogenic signals lead to premature senescence in normal human cells causing a proliferation arrest and the elimination of these defective cells by immune cells. Oncogene-induced senescence (OIS) prevents aberrant cell division and tumor initiation. In order to identify new regulators of OIS, we performed a loss-of-function genetic screen and identified that the loss of SCN9A allowed cells to escape from OIS. The expression of this sodium channel increased in senescent cells during OIS. This upregulation was mediated by NF-κB transcription factors, which are well-known regulators of senescence...
February 15, 2018: Aging Cell
https://www.readbyqxmd.com/read/29350446/differential-gene-expression-in-trigeminal-ganglia-of-male-and-female-rats-following-chronic-constriction-of-the-infraorbital-nerve
#3
O A Korczeniewska, S Husain, J Khan, E Eliav, P Soteropoulos, R Benoliel
BACKGROUND: The mechanisms underlying sex-based differences in pain and analgesia are poorly understood. In this study, we investigated gene expression changes in trigeminal ganglia (TG) of male and female rats exposed to infraorbital nerve chronic constriction injury (IoN-CCI). METHODS: Somatosensory assessments were performed prior to IoN-CCI and at selected time points postsurgery. Selected gene expression changes were examined with real-time quantitative polymerase chain reaction (RT-PCR) in ipsilateral TG at 21 days postsurgery...
May 2018: European Journal of Pain: EJP
https://www.readbyqxmd.com/read/29138838/effects-of-scn9a-gene-modification-on-na-channel-and-the-expression-of-nerve-growth-factor-in-a-rat-model-of-diarrhea%C3%A2-predominant-irritable-bowel-syndrome
#4
Yong-Yan Cai, Chen Li, Zhi-Xin Yan, Na Ma, Fang-Fang Li
The aim of the present study was to identify whether the sodium voltage-gated channel alpha subunit 9 (SCN9A) gene modification is a potential treatment for diarrhea‑predominant irritable bowel syndrome (D‑IBS), via regulating the Na+ channel and the expression of nerve growth factor (NGF). The recombinant adenovirus vector of the SCN9A gene was established, and rat colon cells were isolated for SCN9A gene modification. All subjects were divided into four groups: i) The SCN9A‑modified (D‑IBS rat model implanted with SCN9A‑modified colon cells), ii) negative control (NC; D‑IBS rat model implanted with colon cells without SCN9A gene modification), iii) blank (D‑IBS rat model without any treatment) and iv) normal (normal rats without any treatment)...
January 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29106681/common-missense-variant-of-scn9a-gene-is-associated-with-pain-intensity-in-patients-with-chronic-pain-from-disc-herniation
#5
Mateusz Kurzawski, Marcin Rut, Violetta Dziedziejko, Krzysztof Safranow, Anna Machoy-Mokrzynska, Marek Drozdzik, Monika Bialecka
Objective: Lumbar intervertebral disk herniation (LDH) is considered one of the major risk factors for lower back pain, mainly caused by irritation of a spinal nerve or its root. One of the genes related to pain perception is SCN9A, which encodes the voltage gated sodium channel NaV1.7, a key molecule involved in peripheral pain processing. It had been presented before that a common polymorphism within SCN9A (rs6746030: G > A, R1150W) might influence nociception in the general population...
May 1, 2018: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
https://www.readbyqxmd.com/read/28990532/a-novel-scn9a-mutation-f826y-in-primary-erythromelalgia-alters-the-excitability-of-nav1-7
#6
B Wu, Y Zhang, H Tang, M Yang, H Long, G Shi, J Tang, X Shi
BACKGROUND: Primary erythromelalgia (PE) is a dominant inherited disorder characterized by recurrent pain, redness, and warmth of the extremities that is caused by gain-of-function mutations in Nav1.7 encoding gene SCN9A. Most of the PE-causing mutations of Nav1.7 have been shown to be able to render Nav1.7-expressing cells hyperexcitable, however in most PE cases the symptoms are refractory to treatment with sodium channel blockers and the mechanism underlying the intractability has not been clearly clarified...
2017: Current Molecular Medicine
https://www.readbyqxmd.com/read/28912681/divergence-in-morris-water-maze-based-cognitive-performance-under-chronic-stress-is-associated-with-the-hippocampal-whole-transcriptomic-modification-in-mice
#7
Seung H Jung, Milene L Brownlow, Matteo Pellegrini, Ryan Jankord
Individual susceptibility determines the magnitude of stress effects on cognitive function. The hippocampus, a brain region of memory consolidation, is vulnerable to stressful environments, and the impact of stress on hippocampus may determine individual variability in cognitive performance. Therefore, the purpose of this study was to define the relationship between the divergence in spatial memory performance under chronically unpredictable stress and an associated transcriptomic alternation in hippocampus, the brain region of spatial memory consolidation...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28902413/frequent-genes-in-rare-diseases-panel-based-next-generation-sequencing-to-disclose-causal-mutations-in-hereditary-neuropathies
#8
Maike F Dohrn, Nicola Glöckle, Lejla Mulahasanovic, Corina Heller, Julia Mohr, Christine Bauer, Erik Riesch, Andrea Becker, Florian Battke, Konstanze Hörtnagel, Thorsten Hornemann, Saranya Suriyanarayanan, Markus Blankenburg, Jörg B Schulz, Kristl G Claeys, Burkhard Gess, Istvan Katona, Andreas Ferbert, Debora Vittore, Alexander Grimm, Stefan Wolking, Ludger Schöls, Holger Lerche, G Christoph Korenke, Dirk Fischer, Bertold Schrank, Urania Kotzaeridou, Gerhard Kurlemann, Bianca Dräger, Anja Schirmacher, Peter Young, Beate Schlotter-Weigel, Saskia Biskup
Hereditary neuropathies comprise a wide variety of chronic diseases associated to more than 80 genes identified to date. We herein examined 612 index patients with either a Charcot-Marie-Tooth phenotype, hereditary sensory neuropathy, familial amyloid neuropathy, or small fiber neuropathy using a customized multigene panel based on the next generation sequencing technique. In 121 cases (19.8%), we identified at least one putative pathogenic mutation. Of these, 54.4% showed an autosomal dominant, 33.9% an autosomal recessive, and 11...
December 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28888730/dna-methylation-patterns-at-sweet-taste-transducing-genes-are-associated-with-bmi-and-carbohydrate-intake-in-an-adult-population
#9
O Ramos-Lopez, A Arpón, J I Riezu-Boj, F I Milagro, M L Mansego, J A Martinez
Individual differences in taste perception may influence appetite, dietary intakes, and subsequently, disease risk. Correlations of DNA methylation patterns at taste transducing genes with BMI and dietary intakes were studied. A nutriepigenomic analysis within the Methyl Epigenome Network Association (MENA) project was conducted in 474 adults. DNA methylation in peripheral white blood cells was analyzed by a microarray approach. KEGG pathway analyses were performed concerning the characterization and discrimination of genes involved in the taste transduction pathway...
January 1, 2018: Appetite
https://www.readbyqxmd.com/read/28880996/dravet-syndrome-and-its-mimics-beyond-scn1a
#10
REVIEW
Dora Steel, Joseph D Symonds, Sameer M Zuberi, Andreas Brunklaus
OBJECTIVE: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy characterized by the onset of prolonged febrile and afebrile seizures in infancy, and evolving to drug-resistant epilepsy with accompanying cognitive, behavioral, and motor impairment. Most cases are now known to be caused by pathogenic variants in the sodium channel gene SCN1A, but several other genes have also been implicated. This review examines current understanding of the role of non-SCN1A genes in DS, and what is known about phenotypic similarities and differences...
November 2017: Epilepsia
https://www.readbyqxmd.com/read/28740224/depression-and-catechol-o-methyltransferase-comt-genetic-variants-are-associated-with-pain-in-parkinson-s-disease
#11
Chin-Hsien Lin, K Ray Chaudhuri, Jun-Yu Fan, Chia-I Ko, Alexandra Rizos, Chia-Wen Chang, Han-I Lin, Yih-Ru Wu
Pain is a distressing symptom of Parkinson disease (PD). We aim to determine whether the genetic variants of chronic pain-related genes contribute to pain in PD patients. We included 418 PD patients and evaluated pain severity on King's PD pain scale. We genotyped rs6267, rs6269, rs4633, rs4818 and rs4680 of COMT, rs6746030 of SCN9A, and rs1799971 of OPRM1. In total, 193 participants (46.2%) experienced pain. Compared to pain-free PD patients, PD patients with pain had an earlier age of onset, longer disease duration, and higher depression and motor severity (P < 0...
July 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28704742/q10r-mutation-in-scn9a-gene-is-associated-with-generalized-epilepsy-with-febrile-seizures-plus
#12
Zhidong Cen, Yuting Lou, Yufan Guo, Jianda Wang, Jianhua Feng
No abstract text is available yet for this article.
June 30, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28665811/small-fibre-neuropathy
#13
Daniele Cazzato, Giuseppe Lauria
PURPOSE OF REVIEW: To provide a review on the state-of-art of clinical features, diagnostics, genetics and treatments of small fibre neuropathy (SFN). RECENT FINDINGS: The spectrum of clinical features has been widened from the classical presentation of burning feet as length-dependent SFN to that of small fibre dysfunction and/or degeneration associated with focal, diffuse and episodic neuropathic pain syndromes. The involvement of small nerve fibres in neurodegenerative diseases has been further defined, challenging the relationship between neuropathic pain symptoms and small fibre loss...
October 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28611364/association-of-polymorphisms-in-pharmacogenetic-candidate-genes-with-propofol-susceptibility
#14
Qi Zhong, Xiangdong Chen, Yan Zhao, Ru Liu, Shanglong Yao
Significant individual susceptibility to intravenous anesthetic propofol exists. The etiology of individual variability in the response to propofol may be influenced by genetic polymorphisms in metabolic and functional pathways. With current pharmacogenetics and modern molecular biology technologies, it is possible to study the influence of genetic polymorphisms on susceptibility to propofol. When inducing general anesthesia with intravenous propofol, high individual susceptibility to propofol was found. Using Sequenom MassARRAY single-nucleotide polymorphism (SNP) genotyping, we identified a mutation (rs6313) in the 5HT2A gene that was correlated to individual susceptibility to propofol effect-site concentration (Cep) and onset time of propofol induction...
June 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28494607/scn9a-channelopathy-associated-autosomal-recessive-congenital-indifference-to-pain-a-case-report
#15
S Rajasekharan, L Martens, L Domingues, R Cauwels
BACKGROUND: Congenital Indifference to Pain (CIP) is a rare condition that inhibits the ability of patients to perceive physical pain but otherwise keeps normal sensory modalities. The condition has been mapped to an autosomal recessive trait to chromosome 2q 24.3 with mutations on the SCN9A gene. CASE REPORT: A 2 year old Caucasian female presented with CIP. Bite injuries, tongue wounds and unaccounted dental trauma episodes were frequently reported. Preventive instructions and possible treatment modalities were discussed with the parents...
March 2017: European Journal of Paediatric Dentistry: Official Journal of European Academy of Paediatric Dentistry
https://www.readbyqxmd.com/read/28490900/complex-management-of-a-patient-with-refractory-primary-erythromelalgia-lacking-a-scn9a-mutation
#16
Sarah A Low, Wendye Robbins, Vivianne L Tawfik
A 41-year-old woman presented with burning and erythema in her extremities triggered by warmth and activity, which was relieved by applying ice. Extensive workup was consistent with adult-onset primary erythromelalgia (EM). Several pharmacological treatments were tried including local anesthetics, capsaicin, ziconotide, and dantrolene, all providing 24-48 hours of relief followed by symptom flare. Interventional therapies, including peripheral and sympathetic ganglion blocks, also failed. Thus far, clonidine and ketamine have been the only effective agents for our patient...
2017: Journal of Pain Research
https://www.readbyqxmd.com/read/28440294/next-generation-dna-sequencing-identifies-novel-gene-variants-and-pathways-involved-in-specific-language-impairment
#17
Xiaowei Sylvia Chen, Rose H Reader, Alexander Hoischen, Joris A Veltman, Nuala H Simpson, Clyde Francks, Dianne F Newbury, Simon E Fisher
A significant proportion of children have unexplained problems acquiring proficient linguistic skills despite adequate intelligence and opportunity. Developmental language disorders are highly heritable with substantial societal impact. Molecular studies have begun to identify candidate loci, but much of the underlying genetic architecture remains undetermined. We performed whole-exome sequencing of 43 unrelated probands affected by severe specific language impairment, followed by independent validations with Sanger sequencing, and analyses of segregation patterns in parents and siblings, to shed new light on aetiology...
April 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28235406/network-topology-of-nav1-7-mutations-in-sodium-channel-related-painful-disorders
#18
Dimos Kapetis, Jenny Sassone, Yang Yang, Barbara Galbardi, Markos N Xenakis, Ronald L Westra, Radek Szklarczyk, Patrick Lindsey, Catharina G Faber, Monique Gerrits, Ingemar S J Merkies, Sulayman D Dib-Hajj, Massimo Mantegazza, Stephen G Waxman, Giuseppe Lauria
BACKGROUND: Gain-of-function mutations in SCN9A gene that encodes the voltage-gated sodium channel NaV1.7 have been associated with a wide spectrum of painful syndromes in humans including inherited erythromelalgia, paroxysmal extreme pain disorder and small fibre neuropathy. These mutations change the biophysical properties of NaV1.7 channels leading to hyperexcitability of dorsal root ganglion nociceptors and pain symptoms. There is a need for better understanding of how gain-of-function mutations alter the atomic structure of Nav1...
February 24, 2017: BMC Systems Biology
https://www.readbyqxmd.com/read/28116328/molecular-spectrum-and-differential-diagnosis-in-patients-referred-with-sporadic-or-autosomal-recessive-osteogenesis-imperfecta
#19
Jose A Caparros-Martin, Mona S Aglan, Samia Temtamy, Ghada A Otaify, Maria Valencia, Julián Nevado, Elena Vallespin, Angela Del Pozo, Carmen Prior de Castro, Lucia Calatrava-Ferreras, Pilar Gutierrez, Ana M Bueno, Belen Sagastizabal, Encarna Guillen-Navarro, Maria Ballesta-Martinez, Vanesa Gonzalez, Sarenur Y Basaran, Ruksan Buyukoglan, Bilge Sarikepe, Cecilia Espinoza-Valdez, Francisco Cammarata-Scalisi, Victor Martinez-Glez, Karen E Heath, Pablo Lapunzina, Victor L Ruiz-Perez
BACKGROUND: Osteogenesis imperfecta (OI) is a heterogeneous bone disorder characterized by recurrent fractures. Although most cases of OI have heterozygous mutations in COL1A1 or COL1A2 and show autosomal dominant inheritance, during the last years there has been an explosion in the number of genes responsible for both recessive and dominant forms of this condition. Herein, we have analyzed a cohort of patients with OI, all offspring of unaffected parents, to determine the spectrum of variants accounting for these cases...
January 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28103821/genetic-polymorphisms-of-scn9a-are-associated-with-oxaliplatin-induced-neuropathy
#20
María Sereno, Gerardo Gutiérrez-Gutiérrez, Juan Moreno Rubio, María Apellániz-Ruiz, Lara Sánchez-Barroso, Enrique Casado, Sandra Falagan, Miriam López-Gómez, María Merino, César Gómez-Raposo, Nuria Rodriguez-Salas, Francisco Zambrana Tébar, Cristina Rodríguez-Antona
BACKGROUND: Oxaliplatin is a chemotherapy agent active against digestive tumors. Peripheral neuropathy is one of the most important dose-limiting toxicity of this drug. It occurs in around 60-80% of the patients, and 15% of them develop severe neuropathy. The pathophysiology of oxaliplatin neurotoxicity remains unclear. SCN9A is a gene codifying for a subtype sodium channel (type IX, subunit α) and mutations in this gene are involved in neuropathic perception. In this study we investigated whether SCN9A genetic variants were associated with risk of neurotoxicity in patients diagnosed of cancer on treatment with oxaliplatin...
January 19, 2017: BMC Cancer
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