keyword
https://read.qxmd.com/read/34748725/a-comparison-study-of-superovulation-strategies-for-c57bl-6j-and-b6d2f1-mice-in-crispr-cas9-mediated-genome-editing
#21
JOURNAL ARTICLE
Xue Zhao, Johnny X Huang, Hailong Zhang, Xueyang Gong, Jinhua Dong, Hong-Lin Ren, Zengshan Liu
Reproductive techniques such as superovulation and in vitro fertilisation (IVF) have been widely used in generating genetically modified animals. The current gold standard for superovulation in mice is using coherent treatments of equine chorionic gonadotropin (eCG) and human chorionic gonadotropin (hCG). An alternative method using inhibin antiserum (IAS) instead of eCG has been recently reported. Here, we evaluate different superovulation strategies in C57BL/6J and B6D2F1 mice. Firstly, we found that using 5-week-old C57BL/6J and 4-week-old B6D2F1 donors could achieve better superovulation outcomes...
November 9, 2021: Reproduction, Fertility, and Development
https://read.qxmd.com/read/34394706/bioinformatic-analysis-of-prognostic-and-immune-related-genes-in-pancreatic-cancer
#22
JOURNAL ARTICLE
Ziang Li, Chang Hu, Zhiqiang Yang, Minlan Yang, Jiayu Fang, Xuhong Zhou
Pancreatic cancer (PC) is a malignant tumor with poor prognosis. The poor effect of surgery and chemotherapy makes the research of immunotherapy target molecules significant. Therefore, identifying the new molecular targets of PC is important for patients. In our study, we systematically analyzed molecular correlates of pancreatic cancer by bioinformatic analysis. We characterized differentially expressed analysis based on the TCGA pancreatic cancer dataset. Then, univariate Cox regression was employed to screen out overall survival- (OS-) related DEGs...
2021: Computational and Mathematical Methods in Medicine
https://read.qxmd.com/read/34326297/protein-arginine-methyltransferase-7-modulates-neuronal-excitability-by-interacting-with-nav1-9
#23
JOURNAL ARTICLE
Tingbin Ma, Lulu Li, Rui Chen, Luyao Yang, Hao Sun, Shiyue Du, Xuan Xu, Zhijian Cao, Xianwei Zhang, Luoying Zhang, Xiaoliu Shi, Jing Yu Liu
Human NaV1.9 (hNaV1.9), encoded by SCN11A, is preferentially expressed in nociceptors, and its mutations have been linked to pain disorders. NaV1.9 could be a promising drug target for pain relief. However, the modulation of NaV1.9 activity has remained elusive. Here, we identified a new candidate NaV1.9-interacting partner, protein arginine methyltransferase 7 (PRMT7). Whole-cell voltage-clamp recordings showed that coelectroporation of human SCN11A and PRMT7 in dorsal root ganglion (DRG) neurons of Scn11a-/- mice increased the hNaV1...
April 1, 2022: Pain
https://read.qxmd.com/read/34169998/the-importance-of-multiple-gene-analysis-for-diagnosis-and-differential-diagnosis-in-charcot-marie-tooth-disease
#24
JOURNAL ARTICLE
Sinem Yalcintepe, Hakan Gurkan, Ipek Gungor Dogan, Selma Demir, Sebnem Ozemri Sag, Zehra Manav Kabayegit, Emine Ikbal Atli, Engin Atli, Damla Eker, Sehime Gulsun Temel
AIM: To investigate the genetic etiology of Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN). MATERIAL AND METHODS: We herein examined 55 non-related patients with a suspicion of CMT phenotype or HMSN using a customized multigene panel based on the next-generation sequencing technique. All cases were previously analyzed for PMP22 duplication with the Multiplex Ligand Probe Amplification (MLPA) method. RESULTS: In 13 cases (7...
2021: Turkish Neurosurgery
https://read.qxmd.com/read/34072005/genomic-markers-for-essential-tremor
#25
REVIEW
Félix Javier Jiménez-Jiménez, Hortensia Alonso-Navarro, Elena García-Martín, Ignacio Álvarez, Pau Pastor, José A G Agúndez
There are many reports suggesting an important role of genetic factors in the etiopathogenesis of essential tremor (ET), encouraging continuing the research for possible genetic markers. Linkage studies in families with ET have identified 4 genes/loci for familial ET, although the responsible gene(s) have not been identified. Genome-wide association studies (GWAS) described several variants in LINGO1 , SLC1A2 , STK32B , PPARGC1A , and CTNNA3 , related with ET, but none of them have been confirmed in replication studies...
May 27, 2021: Pharmaceuticals
https://read.qxmd.com/read/33998011/a-low-frequency-pulsed-magnetic-field-reduces-neuropathic-pain-by-regulating-nav-1-8-and-nav-1-9-sodium-channels-at-the-transcriptional-level-in-diabetic-rats
#26
JOURNAL ARTICLE
Cagil Coskun, Isil Ocal, Ismail Gunay
Low-frequency pulsed magnetic field (LF-PMF) application is a non-invasive, easy, and inexpensive treatment method in pain management. However, the molecular mechanism underlying the effect of LF-PMF on pain is not fully understood. Considering the obvious dysregulations of gene expression observed in certain types of voltage-gated sodium channels (VGSCs) in pain conditions, the present study tested the hypothesis that LF-PMF shows its pain-relieving effect by regulating genes that code VGSCs proteins. Five experimental rat groups (Control, Streptozotocin-induced experimental painful diabetic neuropathy (PDN), PDN Sham, PDN 10 Hz PMF, and PDN 30 Hz PMF) were established...
July 2021: Bioelectromagnetics
https://read.qxmd.com/read/33884296/expanding-the-genotypic-spectrum-of-congenital-sensory-and-autonomic-neuropathies-using-whole-exome-sequencing
#27
JOURNAL ARTICLE
Jose-Alberto Palma, Rachita Yadav, Dadi Gao, Lucy Norcliffe-Kaufmann, Susan Slaugenhaupt, Horacio Kaufmann
Objective: To test the hypothesis that many patients presenting with congenital insensitivity to pain have lesser known or unidentified mutations not captured by conventional genetic panels, we performed whole-exome sequencing in a cohort of well-characterized patients with a clinical diagnosis of congenital hereditary sensory and autonomic neuropathy with unrevealing conventional genetic testing. Methods: We performed whole-exome sequencing (WES) in 13 patients with congenital impaired or absent sensation to pain and temperature with no identified molecular diagnosis from a conventional genetic panel...
April 2021: Neurology. Genetics
https://read.qxmd.com/read/33752606/scn11a-gene-deletion-causes-sensorineural-hearing-loss-by-impairing-the-ribbon-synapses-and-auditory-nerves
#28
JOURNAL ARTICLE
Mian Zu, Wei-Wei Guo, Tao Cong, Fei Ji, Shi-Li Zhang, Yue Zhang, Xin Song, Wei Sun, David Z Z He, Wei-Guo Shi, Shi-Ming Yang
BACKGROUND: The SCN11A gene, encoded Nav1.9 TTX resistant sodium channels, is a main effector in peripheral inflammation related pain in nociceptive neurons. The role of SCN11A gene in the auditory system has not been well characterized. We therefore examined the expression of SCN11A in the murine cochlea, the morphological and physiological features of Nav1.9 knockout (KO) ICR mice. RESULTS: Nav1.9 expression was found in the primary afferent endings beneath the inner hair cells (IHCs)...
March 22, 2021: BMC Neuroscience
https://read.qxmd.com/read/33636225/microrna-96-is-required-to-prevent-allodynia-by-repressing-voltage-gated-sodium-channels-in-spinal-cord
#29
JOURNAL ARTICLE
Liting Sun, Ruilong Xia, Jinwen Jiang, Ting Wen, Zhuoya Huang, Ran Qian, Ming-Dong Zhang, Mingcheng Zhou, Changgeng Peng
Voltage-gated sodium channels (Nav s) 1.7, 1.8, and 1.9 are predominately expressed in peripheral sensory neurons and are critical for action potential propagation in nociceptors. Unexpectedly, we found that expression of SCN9A, SCN10A, SCN11A, and SCN2A, the alpha subunit of Nav 1.7, Nav 1.8, Nav 1.9 and Nav 1.2, respectively, are up-regulated in spinal dorsal horn (SDH) neurons of miR-96 knockout mice. These mice also have de-repression of CACNA2D1/2 in DRG and display heat and mechanical allodynia that could be attenuated by intrathecal or intraperitoneal injection of Nav 1...
February 23, 2021: Progress in Neurobiology
https://read.qxmd.com/read/32970203/mechanical-allodynia-triggered-by-cold-exposure-in-mice-with-the-scn11a-p-r222s-mutation-a-novel-model-of-drug-therapy-for-neuropathic-pain-related-to-na-v-1-9
#30
JOURNAL ARTICLE
Yosuke Matsubara, Hiroko Okuda, Kouji H Harada, Shohab Youssefian, Akio Koizumi
Mutations within the SCN11A gene which encodes the voltage-gated sodium channel NaV 1.9 mainly expressed in small fiber sensory neurons have been associated with neuropathic disorders; however, suitable medications have not been fully investigated. To develop drug therapies against NaV 1.9-related neuropathic pain, we aimed to establish a novel model using mice carrying the Scn11a p.R222S mutation initially identified in patients with familial episodic limb pain that is characterized by paroxysmal pain induced by fatigue or bad weather conditions...
September 24, 2020: Naunyn-Schmiedeberg's Archives of Pharmacology
https://read.qxmd.com/read/32897040/small-fibre-pathology-has-no-impact-on-somatosensory-system-function-in-patients-with-fibromyalgia
#31
JOURNAL ARTICLE
Alessandra Fasolino, Giulia Di Stefano, Caterina Leone, Eleonora Galosi, Chiara Gioia, Bruno Lucchino, Alessandra Terracciano, Manuela Di Franco, Giorgio Cruccu, Andrea Truini
We aimed to investigate whether small-fibre pathology, a common skin biopsy finding in patients with fibromyalgia, implies clinically important abnormalities of somatosensory system function and verify whether it is associated with voltage-gated sodium channel variants. In 57 consecutively enrolled patients with fibromyalgia, we used skin biopsy to distinguish patients with and without small-fibre pathology. In all patients, we assessed somatosensory system function using quantitative sensory testing (QST) and laser-evoked potentials and investigated voltage-gated sodium channel genotyping...
July 23, 2020: Pain
https://read.qxmd.com/read/32877464/evaluation-of-molecular-inversion-probe-versus-truseq%C3%A2-custom-methods-for-targeted-next-generation-sequencing
#32
JOURNAL ARTICLE
Rowida Almomani, Margherita Marchi, Maurice Sopacua, Patrick Lindsey, Erika Salvi, Bart de Koning, Silvia Santoro, Stefania Magri, Hubert J M Smeets, Filippo Martinelli Boneschi, Rayaz R Malik, Dan Ziegler, Janneke G J Hoeijmakers, Gidon Bönhof, Sulayman Dib-Hajj, Stephen G Waxman, Ingemar S J Merkies, Giuseppe Lauria, Catharina G Faber, Monique M Gerrits
Resolving the genetic architecture of painful neuropathy will lead to better disease management strategies. We aimed to develop a reliable method to re-sequence multiple genes in a large cohort of painful neuropathy patients at low cost. In this study, we compared sensitivity, specificity, targeting efficiency, performance and cost effectiveness of Molecular Inversion Probes-Next generation sequencing (MIPs-NGS) and TruSeq® Custom Amplicon-Next generation sequencing (TSCA-NGS). Capture probes were designed to target nine sodium channel genes (SCN3A, SCN8A-SCN11A, and SCN1B-SCN4B)...
2020: PloS One
https://read.qxmd.com/read/32831372/sisters-with-no-pain-no-tears-a-report-of-a-new-variant-of-hereditary-sensory-and-autonomic-neuropathy-type-ix-caused-by-a-novel-scn11a-mutation
#33
Shital Poojary, Saurabh Jaiswal, Kapisha Sunny Shah, Krishna B Bhalala
Lack of pain sensation in children involves a rare group of heritable disorders; hereditary sensory and autonomic neuropathy (HSAN). Till date, eight types of HSAN have been described depending on the clinical phenotype and the underlying gene mutation. We report a new variant of HSAN (Type IX) in two siblings (of Indian origin) with a novel mutation of SCN11A gene and a distinct clinical phenotype.
July 2020: Indian Journal of Dermatology
https://read.qxmd.com/read/32817686/gain-of-function-mutation-in-scn11a-causes-itch-and-affects-neurogenic-inflammation-and-muscle-function-in-scn11a-l799p-mice
#34
JOURNAL ARTICLE
Matthias Ebbinghaus, Lorena Tuchscherr, Gisela Segond von Banchet, Lutz Liebmann, Volker Adams, Mieczyslaw Gajda, Christian A Hübner, Ingo Kurth, Hans-Georg Schaible
Mutations in the genes encoding for voltage-gated sodium channels cause profound sensory disturbances and other symptoms dependent on the distribution of a particular channel subtype in different organs. Humans with the gain-of-function mutation p.Leu811Pro in SCN11A (encoding for the voltage-gated Nav1.9 channel) exhibit congenital insensitivity to pain, pruritus, self-inflicted injuries, slow healing wounds, muscle weakness, Charcot-like arthropathies, and intestinal dysmotility. As already shown, knock-in mice (Scn11a+/L799P) carrying the orthologous mutation p...
2020: PloS One
https://read.qxmd.com/read/32601768/painful-and-painless-mutations-of-scn9a-and-scn11a-voltage-gated-sodium-channels
#35
REVIEW
Mark D Baker, Mohammed A Nassar
Chronic pain is a global problem affecting up to 20% of the world's population and has a significant economic, social and personal cost to society. Sensory neurons of the dorsal root ganglia (DRG) detect noxious stimuli and transmit this sensory information to regions of the central nervous system (CNS) where activity is perceived as pain. DRG neurons express multiple voltage-gated sodium channels that underlie their excitability. Research over the last 20 years has provided valuable insights into the critical roles that two channels, NaV 1...
June 29, 2020: Pflügers Archiv: European Journal of Physiology
https://read.qxmd.com/read/32488117/genome-sequence-and-comparative-analysis-of-reindeer-rangifer-tarandus-in-northern-eurasia
#36
JOURNAL ARTICLE
Melak Weldenegodguad, Kisun Pokharel, Yao Ming, Mervi Honkatukia, Jaana Peippo, Tiina Reilas, Knut H Røed, Juha Kantanen
Reindeer are semi-domesticated ruminants that have adapted to the challenging northern Eurasian environment characterized by long winters and marked annual fluctuations in daylight. We explored the genetic makeup behind their unique characteristics by de novo sequencing the genome of a male reindeer and conducted gene family analyses with nine other mammalian species. We performed a population genomics study of 23 additional reindeer representing both domestic and wild populations and several ecotypes from various geographic locations...
June 2, 2020: Scientific Reports
https://read.qxmd.com/read/32344666/identification-of-age-specific-and-common-key-regulatory-mechanisms-governing-eggshell-strength-in-chicken-using-random-forests
#37
JOURNAL ARTICLE
Faisal Ramzan, Selina Klees, Armin Otto Schmitt, David Cavero, Mehmet Gültas
In today's chicken egg industry, maintaining the strength of eggshells in longer laying cycles is pivotal for improving the persistency of egg laying. Eggshell development and mineralization underlie a complex regulatory interplay of various proteins and signaling cascades involving multiple organ systems. Understanding the regulatory mechanisms influencing this dynamic trait over time is imperative, yet scarce. To investigate the temporal changes in the signaling cascades, we considered eggshell strength at two different time points during the egg production cycle and studied the genotype-phenotype associations by employing the Random Forests algorithm on chicken genotypic data...
April 24, 2020: Genes
https://read.qxmd.com/read/32219415/understanding-the-genetic-basis-of-congenital-insensitivity-to-pain
#38
JOURNAL ARTICLE
Ichrak Drissi, William Aidan Woods, Christopher Geoffrey Woods
INTRODUCTION OR BACKGROUND: Congenital insensitivity to pain (CIP) is caused by extremely rare Mendelian genetic disorders. CIP individuals demonstrate the unexpectedly severe consequences of painlessness. Although only a small number of causative conditions and genes are known, most have led to profound insights into human nociception. CIP gene discovery is catalyzing the manufacture of completely new classes of analgesics, and these are needed as alternatives to synthetic highly potent opioids...
May 15, 2020: British Medical Bulletin
https://read.qxmd.com/read/32154989/diagnostic-value-of-whole-exome-sequencing-in-chinese-pediatric-onset-neuromuscular-patients
#39
JOURNAL ARTICLE
Mandy H Y Tsang, Annie T G Chiu, Bernard M H Kwong, Rui Liang, Mullin H C Yu, Kit-San Yeung, Wetor H L Ho, Christopher C Y Mak, Gordon K C Leung, Steven L C Pei, Jasmine L F Fung, Virginia C N Wong, Francesco Muntoni, Brian H Y Chung, Sophelia H S Chan
BACKGROUND: Neuromuscular disorders (NMDs) comprise a group of heterogeneous genetic diseases with a broad spectrum of overlapping the clinical presentations that makes diagnosis challenging. Notably, the recent introduction of whole-exome sequencing (WES) is introducing rapid changes on the genetic diagnosis of NMDs. We aimed to investigate the diagnostic value of WES for pediatric-onset NMDs. METHODS: We applied integrated diagnostic approach and performed WES in 50 Chinese subjects (30 males, 20 females) with undiagnosed pediatric-onset NMDs despite previous specific tests...
May 2020: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/32132394/alcohol-aggravated-episodic-pain-in-humans-with-scn11a-mutation-and-aldh2-polymorphism
#40
JOURNAL ARTICLE
Luyao Yang, Lulu Li, Haiyan Tang, Tingbin Ma, Yulei Li, Xianwei Zhang, Xiaoliu Shi, Jing Yu Liu
Mutations in Nav1.9 encoded by SCN11A have been associated with episodic pain, small-fiber neuropathy, and congenital insensitivity to pain. In this study, we collected and characterized one Chinese family with episodic pain. The SCN11A mutation (c.664C>A/p.Arg222Ser) was identified and cosegregated with the episodic pain phenotype. In addition, we found that alcohol intake triggered intense pain attacks and detected the ALDH2 polymorphism (c.1510G>A/p.Glu504Lys) in 3 patients with episodic pain. The alcohol-aggravated pain symptom and this ALDH2 polymorphism were also reconfirmed in our previously reported episodic pain patient with the Nav1...
July 2020: Pain
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