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[Association between mutations of SCN9A gene and pain related to Parkinsonism].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2013To screening mutations of exons 15, 18 and 26 of sodium channel Nav1.7 (SCN9A) gene, and to assess its association with pain related to Parkinsonism.Respectively, 101 patients with primary Parkinson's disease (PD) and 104 similar-aged volunteers without PD were recruited from March, 2008 to January, 2011.
Li-mei, Zhang +5 more
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[Genetic analysis of a case of mild epilepsy due to variant of SCN9A gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2023To explore the genetic etiology of a patient with epilepsy and provide genetic counseling.A patient who had visited the Center for Reproductive Medicine of Shandong University on November 11, 2020 was selected as the study subject, and her clinic information was collected.
Xunqiang, Yin +3 more
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SCN9A gene therapy: Novel mechanism to inhibit cellular senescence in astrocytesin vitro
2023AbstractCellular aging, also known as senescence, is a form of proliferation arrest that occurs in cells with age. In individuals, this process occurs due to telomere degradation and consequent dysfunction. In the nervous system, senescence of astrocytes, the most common neuronal support cells, has been associated with inflammation and forms of ...
Divyash Shah +2 more
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Urology, 2013
To determine whether an association exists between interstitial cystitis/bladder pain syndrome (IC/BPS) and a nonsynonymous single nucleotide polymorphism in the SCN9A voltage-gated sodium channel gene previously associated with other chronic pain syndromes.Germline deoxyribonucleic acid was sampled from archived bladder biopsy specimens from patients ...
Jay E, Reeder +8 more
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To determine whether an association exists between interstitial cystitis/bladder pain syndrome (IC/BPS) and a nonsynonymous single nucleotide polymorphism in the SCN9A voltage-gated sodium channel gene previously associated with other chronic pain syndromes.Germline deoxyribonucleic acid was sampled from archived bladder biopsy specimens from patients ...
Jay E, Reeder +8 more
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Congenital insensitivity to pain due to SCN9A gene mutation: a case report
Arquivos de Neuro-PsiquiatriaCase presentation: The patient is a male, the only child of a non-consanguineous couple, with no significant changes related to gestation and appropriate neuropsychomotor development throughout childhood. The investigation of the patient’s clinical condition began at 7 months of age and continued for the following 6 years after multiple ...
Josiane de Souza, Daniel Almeida do Valle +6 more
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Neurological Sciences, 2019
The voltage-gated sodium channel NaV1.7, encoded by the gene SCN9A, is located in peripheral neurons and plays an important role in epileptogenesis. Previous studies have identified an increasing number of SCN9A mutations in patients with variable epilepsy phenotypes.
Zhigang Liu +6 more
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The voltage-gated sodium channel NaV1.7, encoded by the gene SCN9A, is located in peripheral neurons and plays an important role in epileptogenesis. Previous studies have identified an increasing number of SCN9A mutations in patients with variable epilepsy phenotypes.
Zhigang Liu +6 more
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Erythromelalgia in a Child with V400M Mutation in SCN9A Gene (2950)
Neurology, 2021Chinese Nwebube +3 more
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COMT and SCN9A gene variants do not contribute to chronic low back pain in Mexican-Mestizo patients
Acta NeurochirurgicaChronic low back pain (CLBP) is a complex condition in which genetic factors play a role in its susceptibility. Catechol-O-methyltransferase (COMT) and sodium channel NaV1.7 (SCN9A) genes are implicated in pain perception. The aim is to analyze the association of COMT and SCN9A with CLBP and their interaction, in a Mexican-Mestizo population.A case ...
Tania Inés Nava-Bringas +4 more
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Advances in Pediatric Research, 2019
Introduction: Paroxysmal Extreme Pain Disorder (PEPD) is a rare autosomal dominant disease, caused by mutations in the SCN9A gene, which encodes the NaV1.7 voltage-gated sodium channel alpha subunit. Symptoms generally begin in early infancy with episodes of excruciating, burning and spreading pain in the lower part of the body, typically in the ...
Jerez Calero Antonio +6 more
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Introduction: Paroxysmal Extreme Pain Disorder (PEPD) is a rare autosomal dominant disease, caused by mutations in the SCN9A gene, which encodes the NaV1.7 voltage-gated sodium channel alpha subunit. Symptoms generally begin in early infancy with episodes of excruciating, burning and spreading pain in the lower part of the body, typically in the ...
Jerez Calero Antonio +6 more
openaire +1 more source
Cancer epigenetics in clinical practice
Ca-A Cancer Journal for Clinicians, 2023Veronica Davalos, Manel Esteller
exaly