Results 81 to 90 of about 4,664 (202)

Spatial Transcriptomics of Patients With Kaposi Sarcoma Identifies Mechanisms of Immune Evasion

Journal of Medical Virology, Volume 97, Issue 12, December 2025.
ABSTRACT To identify the cell types that are infected with KSHV and the immune interactions in Kaposi sarcoma (KS) lesions, we performed spatial transcriptomics with seven KS skin tumors. We used a single‐cell RNA‐sequencing reference data set from healthy skin donors with a method to conduct spatially informed cell‐type deconvolution for spatial ...
Bahman Afsari, Ramya Ramaswami, Kathryn Lurain, Takanobu Tagawa, Daphne Knudsen‐Palmer, Guruswamy Mahesh, Ameera Mungale, Robert Yarchoan, Joseph Ziegelbauer   +8 more
wiley   +1 more source

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

BMC Medical Genetics, 2019
Background KBG syndrome is a very rare autosomal dominant disorder, characterized by macrodontia, distinctive craniofacial findings, skeletal findings, post-natal short stature, and developmental delays, sometimes associated with seizures and EEG ...
Rita Maria Alves, Paolo Uva, Marielza F. Veiga, Manuela Oppo, Fabiana C. R. Zschaber, Giampiero Porcu, Henrique P. Porto, Ivana Persico, Stefano Onano, Gianmauro Cuccuru, Rossano Atzeni, Lauro C. N. Vieira, Marcos V. A. Pires, Francesco Cucca, Maria Betânia P. Toralles, Andrea Angius, Laura Crisponi   +16 more
doaj   +1 more source

An update on transcriptional and post-translational regulation of brain voltage-gated sodium channels [PDF]

, 2015
Voltage-gated sodium channels are essential proteins in brain physiology, as they generate the sodium currents that initiate neuronal action potentials.
Beltran-Alvarez, Pedro, Onwuli, Donatus O.   +1 more
core   +1 more source

Analysis of SCN9A Gene Variants for Acute and Chronic Postoperative Pain and Morphine Consumption After Total Hysterectomy

Pain Medicine, 2020
Abstract Background Single nucleotide polymorphisms (SNPs) of the voltage-gated sodium channel alpha subunit gene (SCN9A) have been associated with pain in various settings. The aim of this study was to investigate the association of the SNPs to evaluate the influence of common gene variants on ...
Junjie Yeo, Alex T Sia, Rehana Sultana, Ban Leong Sng, Ene-Choo Tan   +4 more
openaire   +2 more sources

Regenerating the Senses: Stem Cell‐Derived Sensory Neurons and Functional Genomics in Neurological Disorders

Sensory Neuroscience, Volume 1, Issue 3, December 2025.
ABSTRACT Sensory neuron disorders, such as peripheral neuropathies and trigeminal neuralgia, cause chronic pain and sensory dysfunction; however, regenerative treatments are limited. Human pluripotent stem cells (hPSCs) provide a powerful platform to model these diseases by generating functional sensory neuron subtypes, including nociceptors and ...
Pushpanathan Muthuirulan, Avanthika Nityanand, Anjali Pandit, Vaishnavi Gururajan   +3 more
wiley   +1 more source

A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation [PDF]

, 2014
Genetic variation in SLC12A5 which encodes KCC2, the neuron‐specific cation‐chloride cotransporter that is essential for hyperpolarizing GABAergic signaling and formation of cortical dendritic spines, has not been reported in human disease.
Ahmad, Faraz, Berkovic, Samuel F, Blaesse, Peter, Dibbens, Leanne M, Grinton, Bronwyn E, Heron, Sarah E, Iona, Xenia, Kaila, Kai, Oliver, Karen L, Petrou, Steven, Puskarjov, Martin, Scheffer, Ingrid E, Seja, Patricia, Vutskits, Laszlo, Williams, Tristiana C   +14 more
core   +1 more source

The Concise Guide to PHARMACOLOGY 2025/26: Ion channels

British Journal of Pharmacology, Volume 182, Issue S1, Page S152-S241, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Jörg Striessnig, Alasdair J. Gibb, Alistair A. Mathie, Emma L. Veale, Eamonn Kelly, Chloe J. Peach, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Richard W. Aldrich, Bernard Attali, Austin M. Baggetta, Elvir Becirovic, David J. Beech, Martin Biel, Roslyn M. Bill, Ana I. Caceres, William A. Catterall, Han Chow Chua, Alex C. Conner, Henry Danahay, Paul Davies, Katrien De Clerq, Markus Delling, Francesco Di Virgilio, Simonetta Falzoni, Wei Fang, Stefanie Fenske, Anna Fortuny‐Gomez, Samuel Fountain, George K. Chandy, Mohammad‐Reza Ghovanloo, Steve A. N. Goldstein, Martin Gosling, Christian Grimm, Stephan Grissmer, Kotdaji Ha, Tim G. Hales, Verena Hammelmann, Israel Hanukoglu, Meiqin Hu, Ad P. Ijzerman, Sairam V. Jabba, Mike Jarvis, Anders A. Jensen, Sven E. Jordt, Leonard K. Kaczmarek, Stephan Kellenberger, Charles Kennedy, Brian King, Philip Kitchen, Qiang Liu, Joseph W. Lynch, Rian W. Manville, Jessica Meades, Verena Mehlfeld, Annette Nicke, Stefan Offermanns, Edward Pérez‐Reyes, Leigh D. Plant, Stephan A. Pless, Lachlan D. Rash, Dejian Ren, Hussein N. Rubaiy, Mootaz M. Salman, Werner Sieghart, Lucia G. Sivilotti, Trevor G. Smart, Terrance P. Snutch, Paolo Tammaro, Jinbin Tian, James S. Trimmer, Charlotte Van den Eynde, Paola Vergani, Joris Vriens, Stephen G. Waxman, Aguan D. Wei, Brenda T. Winn, Heike Wulff, Haoxing Xu, Fan Yang, Lixia Yue, Xiaoli Zhang, Michael Zhu   +86 more
wiley   +1 more source

The Nav channel bench series: Plasmid preparation

MethodsX, 2014
Research involving recombinant voltage-gated sodium (Nav) channels has unique challenges. Multiple factors contribute, but undoubtedly at the top of the list is these channels’ DNA instability.
Daniel H. Feldman, Christoph Lossin
doaj   +1 more source

Identification of genes associated with spontaneous regression of neuroblastoma

Pediatric Discovery, 2023
The study of target genes for the spontaneous regression phenomenon of neuroblastoma (NB) is still unclear. Common differentially expressed genes (DEGs) were identified by differential expression analysis in both public databases for the stage 4 death ...
Yunlong Zhang, Yifei Du, Min Wang, Changchun Li, Zhenzhen Zhao, Liang Peng, Jianwu Zhou, Shan Wang   +7 more
doaj   +1 more source

Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes? [PDF]

, 2018
PIEZO1 is a large mechanosensitive ion channel protein. Diseases associated with PIEZO1 include autosomal recessive Generalised Lymphatic Dysplasia of Fotiou (GLDF) and autosomal dominant Dehydrated Hereditary Stomatocytosis with or without ...
Albuisson, Ami, Andolfo, Bae, Bellini, Brown, Cahalan, Cha, Chin, Cox, Cummins, Del Orbe Barreto, Entezami, Fotiou, Glogowska, Grootenboer, Grootenboer, Gudipaty, Li, Lukacs, Martins, Miller, Ranade, Rees, Sabine, Syfuss, Wang, Wu, Yang, Zarychanski, Zhu   +30 more
core   +1 more source