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JOURNAL ARTICLE
Pamela Sotelo-Hitschfeld, Laura Bernal, Masoud Nazeri, William Renthal, Sebastian Brauchi, Carolina Roza, Katharina Zimmermann
BACKGROUND: The trigeminal ganglion (TG) collects afferent sensory information from various tissues. Recent large-scale RNA sequencing of neurons of the TG and dorsal root ganglion has revealed a variety of functionally distinct neuronal subpopulations, but organ-specific information is lacking. METHODS: To link transcriptomic and tissue-specific information, we labeled small-diameter neurons of 3 specific subpopulations of the TG by local application of lipophilic carbocyanine dyes to their innervation site in the dental pulp, cornea, and meninges (dura mater)...
January 18, 2024: Anesthesia and Analgesia
#2
JOURNAL ARTICLE
Gyda Bjornsdottir, Mona A Chalmer, Lilja Stefansdottir, Astros Th Skuladottir, Gudmundur Einarsson, Margret Andresdottir, Doruk Beyter, Egil Ferkingstad, Solveig Gretarsdottir, Bjarni V Halldorsson, Gisli H Halldorsson, Anna Helgadottir, Hannes Helgason, Grimur Hjorleifsson Eldjarn, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Ingileif Jonsdottir, Kirk U Knowlton, Lincoln D Nadauld, Sigrun H Lund, Olafur Th Magnusson, Pall Melsted, Kristjan H S Moore, Asmundur Oddsson, Pall I Olason, Asgeir Sigurdsson, Olafur A Stefansson, Jona Saemundsdottir, Gardar Sveinbjornsson, Vinicius Tragante, Unnur Unnsteinsdottir, G Bragi Walters, Florian Zink, Linn Rødevand, Ole A Andreassen, Jannicke Igland, Rolv T Lie, Jan Haavik, Karina Banasik, Søren Brunak, Maria Didriksen, Mie T Bruun, Christian Erikstrup, Lisette J A Kogelman, Kaspar R Nielsen, Erik Sørensen, Ole B Pedersen, Henrik Ullum, Gisli Masson, Unnur Thorsteinsdottir, Jes Olesen, Petur Ludvigsson, Olafur Thorarensen, Anna Bjornsdottir, Gudrun R Sigurdardottir, Olafur A Sveinsson, Sisse R Ostrowski, Hilma Holm, Daniel F Gudbjartsson, Gudmar Thorleifsson, Patrick Sulem, Hreinn Stefansson, Thorgeir E Thorgeirsson, Thomas F Hansen, Kari Stefansson
Migraine is a complex neurovascular disease with a range of severity and symptoms, yet mostly studied as one phenotype in genome-wide association studies (GWAS). Here we combine large GWAS datasets from six European populations to study the main migraine subtypes, migraine with aura (MA) and migraine without aura (MO). We identified four new MA-associated variants (in PRRT2, PALMD, ABO and LRRK2) and classified 13 MO-associated variants. Rare variants with large effects highlight three genes. A rare frameshift variant in brain-expressed PRRT2 confers large risk of MA and epilepsy, but not MO...
October 26, 2023: Nature Genetics
#3
Gabriel Makar, Sundeep Kahlon, Mark Seeley
INTRODUCTION: A male child with congenital insensitivity to pain (CIP) due to a novel de novo L369P mutation in the SCN11A gene was found to have significant bilateral hip flexion contractures, followed by severe heterotopic ossification after contraction release. This is the first report to describe a patient with this specific mutation and subsequent clinical course. CASE REPORT: A male child with CIP due to de novo L369P mutation in the SCN11A gene was found to have significant bilateral hip flexion contractures...
August 2023: Journal of Orthopaedic Case Reports
#4
REVIEW
Chenyu Zhao, Xi Zhou, Xiaoliu Shi
The Nav1.9 channel is a voltage-gated sodium channel. It plays a vital role in the generation of pain and the formation of neuronal hyperexcitability after inflammation. It is highly expressed in small diameter neurons of dorsal root ganglions and Dogiel II neurons in enteric nervous system. The small diameter neurons in dorsal root ganglions are the primary sensory neurons of pain conduction. Nav1.9 channels also participate in regulating intestinal motility. Functional enhancements of Nav1.9 channels to a certain extent lead to hyperexcitability of small diameter dorsal root ganglion neurons...
December 2023: Channels
#5
JOURNAL ARTICLE
Ertuğrul Karataş, Meltem Sümbüllü, Çiğdem Y Kahraman, Fatma A Çakmak
INTRODUCTION: The present study aimed to investigate the possible association between the single-nucleotide polymorphisms (SNPs) in the SCN9A, SCN10A, SCN11A, OPRM1, and COMT genes and the success rate of pulpal anesthesia after inferior alveolar nerve block (IANB). METHODS: A total of 70 patients (45 females and 25 males) presenting mandibular molar teeth with symptomatic irreversible pulpitis were included. Saliva samples were collected from the participants before the application of IANB...
January 2023: Journal of Endodontics
#6
JOURNAL ARTICLE
Rowida Almomani, Maurice Sopacua, Margherita Marchi, Milena Ślęczkowska, Patrick Lindsey, Bianca T A de Greef, Janneke G J Hoeijmakers, Erika Salvi, Ingemar S J Merkies, Maryam Ferdousi, Rayaz A Malik, Dan Ziegler, Kasper W J Derks, Gidon Boenhof, Filippo Martinelli-Boneschi, Daniele Cazzato, Raffaella Lombardi, Sulayman Dib-Hajj, Stephen G Waxman, Hubert J M Smeets, Monique M Gerrits, Catharina G Faber, Giuseppe Lauria, On Behalf Of The Propane Study Group
Neuropathic pain is a frequent feature of diabetic peripheral neuropathy (DPN) and small fiber neuropathy (SFN). Resolving the genetic architecture of these painful neuropathies will lead to better disease management strategies, counselling and intervention. Our aims were to profile ten sodium channel genes (SCG) expressed in a nociceptive pathway in painful and painless DPN and painful and painless SFN patients, and to provide a perspective for clinicians who assess patients with painful peripheral neuropathy...
May 5, 2023: International Journal of Molecular Sciences
#7
JOURNAL ARTICLE
Andreas C Themistocleous, Georgios Baskozos, Iulia Blesneac, Maddalena Comini, Karyn Megy, Sam Chong, Sri V V Deevi, Lionel Ginsberg, David Gosal, Robert D M Hadden, Rita Horvath, Mohamed Mahdi-Rogers, Adnan Manzur, Rutendo Mapeta, Andrew Marshall, Emma Matthews, Mark I McCarthy, Mary M Reilly, Tara Renton, Andrew S C Rice, Tom A Vale, Natalie van Zuydam, Suellen M Walker, Christopher Geoffrey Woods, David L H Bennett
The aims of our study were to use whole genome sequencing in a cross-sectional cohort of patients to identify new variants in genes implicated in neuropathic pain, to determine the prevalence of known pathogenic variants and to understand the relationship between pathogenic variants and clinical presentation. Patients with extreme neuropathic pain phenotypes (both sensory loss and gain) were recruited from secondary care clinics in the UK and underwent whole genome sequencing as part of the National Institute for Health and Care Research Bioresource Rare Diseases project...
2023: Brain communications
#8
JOURNAL ARTICLE
Aaron Isaacs, Andrei Barysenka, Rachel M A Ter Bekke, Apollonia T J M Helderman-van den Enden, Arthur van den Wijngaard, Paul G A Volders, Monika Stoll
BACKGROUND: The Worm Study, ascertained from a multigeneration pedigree segregating a single amino acid deletion in SCN5A (c.4850_4852delTCT, p.(Phe1617del), rs749697698), is characterized by substantial phenotypic heterogeneity and overlap of sudden cardiac death, long-QT syndrome, cardiac conduction disease, Brugada syndrome, and isorhythmic atrioventricular dissociation. Linkage analysis for a synthetic trait derived from these phenotypes identified a single peak (logarithm of the odds [LOD] = 4...
February 9, 2023: Heart Rhythm: the Official Journal of the Heart Rhythm Society
#9
JOURNAL ARTICLE
Joyce S Kim, Hui Sun, Sonya Meeker, Bradley J Undem
The influence of NaV 1.9 on inflammatory mediator-induced activation of airway vagal nodose C-fibres was evaluated by comparing responses in wild-type vs. NaV 1.9-/- mice. A single cell rt-PCR analysis indicated that virtually all nodose C-fibre neurons expressed NaV 1.9 (SCN11A) mRNA. Using extracellular electrophysiological recordings in an isolated vagally-innervated mouse trachea-lung preparation, it was noted that mediators act via G-protein coupled receptors (PAR2), or ionotropic receptors (P2×3) were 70-85% less effective in evoking action potential discharge in the absence of NaV 1...
February 7, 2023: Journal of Physiology
#10
JOURNAL ARTICLE
Wu Chi, Min Wu, Han-Lu Wang, Qiu-Yan Wu, Yan-Ping Zhang, Ya-Nan Hu, Yao-Bin Zhu, Xin-Fu Lin, Ting Chen, Jie-Wei Luo, Xing-Lin Ruan, Yun-Fei Li
BACKGROUND: Essential tremor (ET) is an autosomal dominant inheritance disorder. Mutations in fusion sarcoma (FUS), mitochondrial serine peptidase 2 (HTRA2), teneurin transmembrane protein 4 (TENM4), sortilin1 (SORT1), SCN11A, and notch2N-terminal-like (NOTCH2NLC) genes are associated with familial ET. METHODS: A proband with ET was tested using whole-exome sequencing and repeat-primed polymerase chain reaction. Subsequently, the family members were screened for the suspected mutation, and the results were verified using Sanger sequencing...
June 2023: Neurological Sciences
#11
REVIEW
Amanda C Y Chan, Shivaram Kumar, Grace Tan, Hiu Yi Wong, Jonathan J Y Ong, Bharatendu Chandra, Hua Huang, Vijay Kumar Sharma, Poh San Lai
Small-fiber neuropathy (SFN) is a disorder that exclusively affects the small nerve fibers, sparing the large nerve fibers. Thinly myelinated Aδ-fibers and unmyelinated C-fibers are damaged, leading to development of neuropathic pain, thermal dysfunction, sensory symptoms, and autonomic disturbances. Although many SFNs are secondary and due to immunological causes or metabolic disturbances, the etiology is unknown in up to half of the patients. Over the years, this proportion of "idiopathic SFN" has decreased, as familial and genetic causes have been discovered, thus shifting a proportion of once "idiopathic" cases to the genetic category...
April 2023: Muscle & Nerve
#12
JOURNAL ARTICLE
Milena Ślęczkowska, Rowida Almomani, Margherita Marchi, Erika Salvi, Bianca T A de Greef, Maurice Sopacua, Janneke G J Hoeijmakers, Patrick Lindsey, Stephen G Waxman, Giuseppe Lauria, Catharina G Faber, Hubert J M Smeets, Monique M Gerrits
Neuropathic pain is a characteristic feature of small fiber neuropathy (SFN), which in 18% of the cases is caused by genetic variants in voltage-gated sodium ion channels. In this study, we assessed the role of fifteen other ion channels in neuropathic pain. Patients with SFN (n = 414) were analyzed for ANO1 , ANO3 , HCN1 , KCNA2 , KCNA4 , KCNK18 , KCNN1 , KCNQ3 , KCNQ5 , KCNS1 , TRPA1 , TRPM8 , TRPV1 , TRPV3 and TRPV4 variants by single-molecule molecular inversion probes-next-generation sequencing. These patients did not have genetic variants in SCN3A , SCN7A-SCN11A and SCN1B-SCN4B ...
November 15, 2022: International Journal of Molecular Sciences
#13
REVIEW
Yu Shen, Yilei Zheng, Daojun Hong
Over the past decades, advances in genetic sequencing have opened a new world of discovery of causative genes associated with numerous pain-related syndromes. Familial episodic pain syndromes (FEPS) are one of the distinctive syndromes characterized by early-childhood onset of severe episodic pain mainly affecting the distal extremities and tend to attenuate or diminish with age. According to the phenotypic and genetic properties, FEPS at least includes four subtypes of FEPS1, FEPS2, FEPS3, and FEPS4, which are caused by mutations in the TRPA1, SCN10A, SCN11A , and SCN9A genes, respectively...
2022: Journal of Pain Research
#14
REVIEW
Marco Cascella, Maria Rosaria Muzio, Federica Monaco, Davide Nocerino, Alessandro Ottaiano, Francesco Perri, Massimo Antonio Innamorato
Pain and nociception are different phenomena. Nociception is the result of complex activity in sensory pathways. On the other hand, pain is the effect of interactions between nociceptive processes, and cognition, emotions, as well as the social context of the individual. Alterations in the nociceptive route can have different genesis and affect the entire sensorial process. Genetic problems in nociception, clinically characterized by reduced or absent pain sensitivity, compose an important chapter within pain medicine...
August 2, 2022: Pathophysiology: the Official Journal of the International Society for Pathophysiology
#15
JOURNAL ARTICLE
Wenting Ma, Matthew R Sapio, Allison P Manalo, Dragan Maric, Mary Kate Dougherty, Taichi Goto, Andrew J Mannes, Michael J Iadarola
Primary afferent neurons of the dorsal root ganglia (DRG) transduce peripheral nociceptive signals and transmit them to the spinal cord. These neurons also mediate analgesic control of the nociceptive inputs, particularly through the μ-opioid receptor (encoded by Oprm1 ). While opioid receptors are found throughout the neuraxis and in the spinal cord tissue itself, intrathecal administration of μ-opioid agonists also acts directly on nociceptive nerve terminals in the dorsal spinal cord resulting in marked analgesia...
2022: Frontiers in Molecular Neuroscience
#16
JOURNAL ARTICLE
Chenyu Zhao, Jishuo Jin, Haoye Hu, Xi Zhou, Xiaoliu Shi
Background: The SCN11A gene encodes the α-subunit of the Nav1. 9 channel, which is a regulator of primary sensory neuron excitability. Nav1.9 channels play a key role in somatalgia. Humans with the gain-of-function mutation R222S in SCN11A exhibit familial episodic pain. As already known, R222S knock-in mice carrying a mutation orthologous to the human R222S variant demonstrate somatic hyperalgesia. This study investigated whether Scn 11 a R222S/R222S mice developed visceral hyperalgesia and intestinal dysmotility...
2022: Frontiers in Neurology
#17
JOURNAL ARTICLE
Yilei Zheng, Pengcheng Huang, Shumeng Li, Kaiyan Jiang, Binbin Zhou, Xin Fang, Meihong Zhou, Daojun Hong, Min Zhu
BACKGROUND: Familial episodic pain syndrome type 3 (FEPS3) is an inherited disorder characterized by the early-childhood onset of severe episodic pain that primarily affects the distal extremities. As skin biopsy has revealed a reduction in intraepidermal nerve fiber density and degeneration of the unmyelinated axons, it remains unclear whether FEPS3 patients have pathological changes in the peripheral nerve. METHODS: The clinical features of patients with FEPS3 were summarized in a large autosomal dominant family...
May 7, 2022: Neurological Sciences
#18
JOURNAL ARTICLE
Sergey G Shcherbak, Anton I Changalidi, Yury A Barbitoff, Anna Yu Anisenkova, Sergei V Mosenko, Zakhar P Asaulenko, Victoria V Tsay, Dmitrii E Polev, Roman S Kalinin, Yuri A Eismont, Andrey S Glotov, Evgeny Y Garbuzov, Alexander N Chernov, Olga A Klitsenko, Mikhail O Ushakov, Anton E Shikov, Stanislav P Urazov, Vladislav S Baranov, Oleg S Glotov
The COVID-19 pandemic has drawn the attention of many researchers to the interaction between pathogen and host genomes. Over the last two years, numerous studies have been conducted to identify the genetic risk factors that predict COVID-19 severity and outcome. However, such an analysis might be complicated in cohorts of limited size and/or in case of limited breadth of genome coverage. In this work, we tried to circumvent these challenges by searching for candidate genes and genetic variants associated with a variety of quantitative and binary traits in a cohort of 840 COVID-19 patients from Russia...
March 17, 2022: Genes
#19
JOURNAL ARTICLE
Michelle Cristiane Bufalo, Maíra Estanislau Soares de Almeida, José Ricardo Jensen, Carlos DeOcesano-Pereira, Flavio Lichtenstein, Gisele Picolo, Ana Marisa Chudzinski-Tavassi, Sandra Coccuzzo Sampaio, Yara Cury, Vanessa Olzon Zambelli
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 glycated extracellular matrix (ECM-GC) and primary dorsal root ganglion (DRG) that mimicked a pro-nociceptive microenvironment. However, culturing primary cells is still a challenge for large-scale screening studies. Here, we characterized a new model using ECM-GC as a stimulus for human sensory-like neurons differentiated from SH-SY5Y cell lines to screen for analgesic compounds...
January 12, 2022: Cells
#20
JOURNAL ARTICLE
Tomislav Kokotović, Ewelina M Lenartowicz, Michiel Langeslag, Cosmin I Ciotu, Christopher W Fell, Angelica Scaramuzza, Michael J M Fischer, Michaela Kress, Josef M Penninger, Vanja Nagy
Mesenchyme homeobox protein 2 (MEOX2) is a transcription factor involved in mesoderm differentiation, including development of bones, muscles, vasculature and dermatomes. We have previously identified dysregulation of MEOX2 in fibroblasts from Congenital Insensitivity to Pain (CIP) patients, and confirmed that btn, the Drosophila homologue of MEOX2, plays a role in nocifensive responses to noxious heat stimuli. To determine the importance of MEOX2 in the mammalian peripheral nervous system, we used a Meox2 heterozygous (Meox2+/- ) mouse model to characterize its function in the sensory nervous system, and more specifically, in nociception...
January 13, 2022: FEBS Journal
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