keyword
MENU ▼
Read by QxMD icon Read
search

Ion channel disease

keyword
https://www.readbyqxmd.com/read/29344870/cell-specific-rna-quantification-in-human-sn-da-neurons-from-heterogeneous-post-mortem-midbrain-samples-by-uv-laser-microdissection-and-rt-qpcr
#1
Johanna Duda, Michael Fauler, Jan Gründemann, Birgit Liss
Cell specificity of gene expression analysis is from particular relevance when the abundance of target cells is not homogeneous in the compared tissue samples, like it is the case, e.g., when comparing brain tissues from controls and in neurodegenerative disease states. While single-cell gene expression profiling is already a methodological challenge per se, it becomes even more prone to artifacts when analyzing individual cells from human post-mortem samples. Not only because human samples can never be matched as precisely as those from animal models, but also, because the RNA-quality that can be obtained from human samples usually displays a high range of variability...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29344669/clc-2-is-a-positive-modulator-of-oligodendrocyte-precursor-cell-differentiation-and-myelination
#2
Xiaolin Hou, Rui Zhang, Junyan Wang, Yunhong Li, Fan Li, Yan Zhang, Xiaomin Zheng, Ying Shen, Yin Wang, Liang Zhou
Oligodendrocytes (OLs) are myelin-forming cells that are present within the central nervous system. Impaired oligodendrocyte precursor cell (OPC) differentiation into mature OLs is a major cause of demyelination diseases. Therefore, identifying the underlying molecular mechanisms of OPC differentiation is crucial to understand the processes of myelination and demyelination. It has been acknowledged that various extrinsic and intrinsic factors are involved in the control of OPC differentiation; however, the function of ion channels, particularly the voltage‑gated chloride channel (CLC), in OPC differentiation and myelination are not fully understood...
January 17, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29344503/genetics-of-magnesium-disorders
#3
REVIEW
Heng Li, Shiren Sun, Jianghua Chen, Goushuang Xu, Hanmin Wang, Qi Qian
Background: Magnesium (Mg2+), the second most abundant cation in the cell, is woven into a multitude of cellular functions. Dysmagnesemia is associated with multiple diseases and, when severe, can be life-threatening. Summary: This review discusses Mg2+ homeostasis and function with specific focus on renal Mg2+ handling. Intrarenal channels and transporters related to Mg2+ absorption are discussed. Unraveling the rare genetic diseases with manifestations of dysmagnesemia has greatly increased our understanding of the complex and intricate regulatory network in the kidney, specifically, functions of tight junction proteins including claudin-14, -16, -19, and -10; apical ion channels including: TRPM6, Kv1...
December 2017: Kidney Diseases
https://www.readbyqxmd.com/read/29339292/selective-hcn1-block-as-a-strategy-to-control-oxaliplatin-induced-neuropathy
#4
F Resta, L Micheli, A Laurino, V Spinelli, T Mello, L Sartiani, L Di Cesare Mannelli, E Cerbai, C Ghelardini, M N Romanelli, G Mannaioni, A Masi
Chemotherapy-Induced Peripheral Neuropathy (CIPN) is the most frequent adverse effect of pharmacological cancer treatments. The occurrence of neuropathy prevents the administration of fully-effective drug regimen, affects negatively the quality of life of patients, and may lead to therapy discontinuation. CIPN is currently treated with anticonvulsants, antidepressants, opioids and non-opioid analgesics, all of which are flawed by insufficient anti-hyperalgesic efficacy or addictive potential. Understandably, developing new drugs targeting CIPN-specific pathogenic mechanisms would dramatically improve efficacy and tolerability of anti-neuropathic therapies...
January 12, 2018: Neuropharmacology
https://www.readbyqxmd.com/read/29335248/fast-neurogenesis-from-carotid-body-quiescent-neuroblasts-accelerates-adaptation-to-hypoxia
#5
Verónica Sobrino, Patricia González-Rodríguez, Valentina Annese, José López-Barneo, Ricardo Pardal
Unlike other neural peripheral organs, the adult carotid body (CB) has a remarkable structural plasticity, as it grows during acclimatization to hypoxia. The CB contains neural stem cells that can differentiate into oxygen-sensitive glomus cells. However, an extended view is that, unlike other catecholaminergic cells of the same lineage (sympathetic neurons or chromaffin cells), glomus cells can divide and thus contribute to CB hypertrophy. Here, we show that O2-sensitive mature glomus cells are post-mitotic...
January 15, 2018: EMBO Reports
https://www.readbyqxmd.com/read/29331839/functional-characterization-of-a-novel-herg-variant-in-a-family-with-recurrent-sudden-infant-death-syndrome-retracting-a-genetic-diagnosis
#6
Valentine Sergeev, Frances Perry, Thomas M Roston, Shubhayan Sanatani, Glen F Tibbits, Thomas W Claydon
Long QT syndrome (LQTS) is the most common cardiac ion channelopathy and has been found to be responsible for approximately 10% of sudden infant death syndrome (SIDS) cases. Despite increasing use of broad panels and now whole exome sequencing (WES) in the investigation of SIDS, the probability of identifying a pathogenic mutation in a SIDS victim is low. We report a family-based study who are afflicted by recurrent SIDS in which several members harbor a variant, p.Pro963Thr, in the C-terminal region of the human-ether-a-go-go (hERG) gene, published to be responsible for cases of LQTS type 2...
December 20, 2017: Forensic Science International
https://www.readbyqxmd.com/read/29331020/human-phenotypes-caused-by-piezo1-mutations-one-gene-two-overlapping-phenotypes
#7
Silvia Martin-Almedina, Sahar Mansour, Pia Ostergaard
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 pseudohyperkalemia and/or perinatal oedema (DHS). The two disorders show overlapping features, fetal hydrops/perinatal oedema have been reported in both. Electrophysiological studies suggest opposite mechanisms of action, the mutations identified in GLDF patients cause a loss-of-function mechanism of disease and mutations in DHS patients cause gain-of-function...
January 13, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29327206/brain-photobiomodulation-therapy-a-narrative-review
#8
REVIEW
Farzad Salehpour, Javad Mahmoudi, Farzin Kamari, Saeed Sadigh-Eteghad, Seyed Hossein Rasta, Michael R Hamblin
Brain photobiomodulation (PBM) therapy using red to near-infrared (NIR) light is an innovative treatment for a wide range of neurological and psychological conditions. Red/NIR light is able to stimulate complex IV of the mitochondrial respiratory chain (cytochrome c oxidase) and increase ATP synthesis. Moreover, light absorption by ion channels results in release of Ca2+ and leads to activation of transcription factors and gene expression. Brain PBM therapy enhances the metabolic capacity of neurons and stimulates anti-inflammatory, anti-apoptotic, and antioxidant responses, as well as neurogenesis and synaptogenesis...
January 11, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29327205/nociceptive-roles-of-trpm2-ion-channel-in-pathologic-pain
#9
REVIEW
Yongwoo Jang, Pyung Sun Cho, Young Duk Yang, Sun Wook Hwang
Pain is a protective mechanism that enables us to avoid potentially harmful environments. However, when pathologically persisted and aggravated under severely injured or inflamed conditions, pain often reduces the quality of life and thus is considered as a disease to eliminate. Inflammatory and/or neuropathic mechanisms may exaggerate interactions between damaged tissues and neural pathways for pain mediation. Similar mechanisms also promote the communication among cellular participants in synapses at spinal or higher levels, which may amplify nociceptive firing and subsequent signal transmission, deteriorating the pain sensation...
January 11, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29324422/assimilation-of-biophysical-neuronal-dynamics-in-neuromorphic-vlsi
#10
Jun Wang, Daniel Breen, Abraham Akinin, Frederic Broccard, Henry D I Abarbanel, Gert Cauwenberghs
Representing the biophysics of neuronal dynamics and behavior offers a principled analysis-by-synthesis approach toward understanding mechanisms of nervous system functions. We report on a set of procedures assimilating and emulating neurobiological data on a neuromorphic very large scale integrated (VLSI) circuit. The analog VLSI chip, NeuroDyn, features 384 digitally programmable parameters specifying for 4 generalized Hodgkin-Huxley neurons coupled through 12 conductance-based chemical synapses. The parameters also describe reversal potentials, maximal conductances, and spline regressed kinetic functions for ion channel gating variables...
December 2017: IEEE Transactions on Biomedical Circuits and Systems
https://www.readbyqxmd.com/read/29321510/a-model-of-human-lung-fibrogenesis-for-the-assessment-of-anti-fibrotic-strategies-in-idiopathic-pulmonary-fibrosis
#11
Katy M Roach, Amanda Sutcliffe, Laura Matthews, Gill Elliott, Chris Newby, Yassine Amrani, Peter Bradding
Idiopathic pulmonary fibrosis (IPF) is a progressive interstitial lung disease with limited therapeutic options. KCa3.1 ion channels play a critical role in TGFβ1-dependent pro-fibrotic responses in human lung myofibroblasts. We aimed to develop a human lung parenchymal model of fibrogenesis and test the efficacy of the selective KCa3.1 blocker senicapoc. 2 mm3 pieces of human lung parenchyma were cultured for 7 days in DMEM ± TGFβ1 (10 ng/ml) and pro-fibrotic pathways examined by RT-PCR, immunohistochemistry and collagen secretion...
January 10, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29321393/-n-3-fatty-acids-and-the-maintenance-of-neuronal-functions
#12
Michio Hashimoto
The functions of n-3 fatty acids are known to be diverse, and they play roles in cardiovascular and neuronal systems and in lipid metabolism. Docosahexaenoic acid (DHA), which is the most abundant n-3 fatty acid in the brain, is essential for the maintenance of brain functions throughout the human lifespan. Epidemiological studies have demonstrated that reduced n-3 fatty acid intake is closely associated with the onset of mental and neurological diseases such as brain developmental disorders, depression, and Alzheimer's disease...
2018: Nihon Yakurigaku Zasshi. Folia Pharmacologica Japonica
https://www.readbyqxmd.com/read/29321020/meta-analysis-of-human-gene-expression-in-response-to-mycobacterium-tuberculosis-infection-reveals-potential-therapeutic-targets
#13
Zhang Wang, Seda Arat, Michal Magid-Slav, James R Brown
BACKGROUND: With the global emergence of multi-drug resistant strains of Mycobacterium tuberculosis, new strategies to treat tuberculosis are urgently needed such as therapeutics targeting potential human host factors. RESULTS: Here we performed a statistical meta-analysis of human gene expression in response to both latent and active pulmonary tuberculosis infections from nine published datasets. We found 1655 genes that were significantly differentially expressed during active tuberculosis infection...
January 10, 2018: BMC Systems Biology
https://www.readbyqxmd.com/read/29304851/development-of-the-excitation-contraction-coupling-machinery-and-its-relation-to-myofibrillogenesis-in-human-ipsc-derived-skeletal-myocytes
#14
Jeanne Lainé, Gunnar Skoglund, Emmanuel Fournier, Nacira Tabti
BACKGROUND: Human induced pluripotent stem cells-derived myogenic progenitors develop functional and ultrastructural features typical of skeletal muscle when differentiated in culture. Besides disease-modeling, such a system can be used to clarify basic aspects of human skeletal muscle development. In the present study, we focus on the development of the excitation-contraction (E-C) coupling, a process that is essential both in muscle physiology and as a tool to differentiate between the skeletal and cardiac muscle...
January 5, 2018: Skeletal Muscle
https://www.readbyqxmd.com/read/29301848/physiologic-pathologic-and-therapeutic-paracrine-modulation-of-cardiac-excitation-contraction-coupling
#15
REVIEW
Joshua Mayourian, Delaine K Ceholski, David M Gonzalez, Timothy J Cashman, Susmita Sahoo, Roger J Hajjar, Kevin D Costa
Cardiac excitation-contraction coupling (ECC) is the orchestrated process of initial myocyte electrical excitation, which leads to calcium entry, intracellular trafficking, and subsequent sarcomere shortening and myofibrillar contraction. Neurohumoral β-adrenergic signaling is a well-established mediator of ECC; other signaling mechanisms, such as paracrine signaling, have also demonstrated significant impact on ECC but are less well understood. For example, resident heart endothelial cells are well-known physiological paracrine modulators of cardiac myocyte ECC mainly via NO and endothelin-1...
January 5, 2018: Circulation Research
https://www.readbyqxmd.com/read/29301492/effect-of-grm7-polymorphisms-on-the-development-of-noise-induced-hearing-loss-in-chinese-han-workers-a-nested-case-control-study
#16
Peipei Yu, Jie Jiao, Guoshun Chen, Wenhui Zhou, Huanling Zhang, Hui Wu, Yanhong Li, Guizhen Gu, Yuxin Zheng, Yue Yu, Shanfa Yu
BACKGROUND: Noise-induced hearing loss (NIHL) is a complex, irreversible disease caused by the interaction of genetic and environmental factors. In recent years, a great many studies have been done to explore the NIHL susceptibility genes among humans. So far, high powerful detections have been founded that genes of potassium ion channel genes (KCNQ4 and KCNE1), catalase (CAT), protocadherin 15 (PCDH15), myosin 14 (MYH14) and heart shock protein (HSP70) which have been identified in more than one population may be associated with the susceptibility to NIHL...
January 5, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29299124/fty-720-induces-apoptosis-in-neuroblastoma-via-multiple-signaling-pathways
#17
Ingo Lange, Italo Espinoza-Fuenzalida, Mourad Wagdy Ali, Laura Espana Serrano, Dana-Lynn T Koomoa
Neuroblastoma (NB) is the most common extra-cranial pediatric solid tumor. High-risk NB is difficult to treat due to the lack of response to current therapies and aggressive disease progression. Despite novel drugs, alternative treatments and multi-modal treatments, finding an effective treatment strategy for these patients continues to be a major challenge. The current study focuses on examining the effects of FTY-720 or fingolimod, a drug that is FDA-approved for refractory multiple sclerosis, in NB. The results showed that FTY-720 regulates multiple pathways that result in various effects on calcium signaling, ion channel activation and cell survival/death pathways...
December 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/29295861/splunc1-is-an-allosteric-modulator-of-the-epithelial-sodium-channel
#18
Christine Seulki Kim, Saira Ahmad, Tongde Wu, William G Walton, Matthew R Redinbo, Robert Tarran
Cystic fibrosis (CF) is a common genetic disease with significantly increased mortality. CF airways exhibit ion transport abnormalities, including hyperactivity of the epithelial Na+ channel (ENaC). Short-palate lung and nasal epithelial clone 1 (SPLUNC1) is a multifunctional innate defense protein that is secreted into the airway lumen. We have previously demonstrated that SPLUNC1 binds to and inhibits ENaC to maintain fluid homeostasis in airway epithelia and that this process fails in CF airways. Despite this, how SPLUNC1 actually regulates ENaC is unknown...
January 2, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29288626/the-p2x7-receptor-a-main-player-in-inflammation
#19
REVIEW
Elena Adinolfi, Anna Lisa Giuliani, Elena De Marchi, Anna Pegoraro, Elisa Orioli, Francesco Di Virgilio
Damage associated molecular patterns (DAMPs) are intracellular molecules released from infected or injured cells to activate inflammatory and reparatory responses. One of the most ancient and conserved DAMPs is extracellular ATP (eATP) that exerts its phlogistic activity mainly through activation of the P2X7 receptor (P2X7R). The P2X7 is an ATP gated ion channel, expressed by most immune cells, including the monocyte-derived cell lineages, T and B lymphocytes an their precursors. Here we give an overview of recent and established literature on the role of P2X7R in septic and sterile inflammation...
December 27, 2017: Biochemical Pharmacology
https://www.readbyqxmd.com/read/29285614/the-effects-of-quinine-on-neurophysiological-properties-of-dopaminergic-neurons
#20
Li Zou, Yingchao Xue, Michael Jones, Thomas Heinbockel, Mingyao Ying, Xiping Zhan
Quinine is an antimalarial drug that is toxic to the auditory system by commonly inducing hearing loss and tinnitus, presumably due to its ototoxic effects on disruption of cochlear hair cells and blockade of ion channels of neurons in the auditory system. To a lesser extent, quinine also causes ataxia, tremor, and dystonic reactions. As dopaminergic neurons are implicated to play a role in all of these diseases, we tested the toxicity of quinine on induced dopaminergic (iDA) neurons derived from human pluripotent stem cells (iPSCs) and primary dopaminergic (DA) neurons of substantia nigra from mice brain slices...
December 29, 2017: Neurotoxicity Research
keyword
keyword
13223
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"