Genes encoding channels. Medical search. Frequent questions

Small-conductance Ca(2+)-activated potassium (SK) channels are heteromeric complexes of SK alpha-subunits and calmodulin that modulate membrane excitability, are responsible for part of the after-hyperpolarization (AHP) following action potentials, and thus control the firing patterns and excitability of most central neurons. (pasteur.fr)
In 2000, after more research was done on α1 subunits in voltage-gated calcium channels, a new nomenclature was used that called L-type calcium channels CaV1 with its subunits being called CaV1.1, Cav1.2, CaV1.3, and CaV1.4. (wikipedia.org)
L-type Calcium Channels contain 5 different subunits, the α1(170-240 kDa), α2(150kDa), δ(17-25 kDa), β(50-78 kDa), and γ(32 kDa) subunits. (wikipedia.org)
Like most voltage-gated ion channels, the α-subunit is composed of 4 subunits. (wikipedia.org)
There is a considerable diversity of G protein subunits that channel signals initiated by GPCRs into specific outcome. (nih.gov)
In particular, mammalian genomes contain 16 conserved genes encoding G protein α subunits with unique properties. (nih.gov)
Sodium channels are heteromultimeric membrane proteins, consisting of a large alpha subunit that forms the pore, and one or more beta subunits. (nih.gov)
Three genes encode beta subunits (Nabeta1-3), and all three are expressed in the cerebellum. (nih.gov)
The CaV1 and CaV2 channels are heteromeric, consisting of an α1 pore-forming subunit, associated with auxiliary CaVβ and α2δ subunits. (stanford.edu)
The α2δ subunits are encoded in mammals by four genes, CACNA2D1-4. (stanford.edu)
We expressed chimeric channels composed of different components of the Kv7.4 and Kv7.5 α -subunits in vascular smooth muscle cells to determine which components are essential for enhancement or inhibition of channel activity. (aspetjournals.org)
The present studies identify distinct functional domains that confer differential sensitivities of Kv7.4 and Kv7.5 to stimulatory and inhibitory signaling and reveal structural features of the channel subunits that determine their biophysical properties. (aspetjournals.org)
functional channels form as homo- or hetero-tetramers of α -subunits ( Delmas and Brown, 2005 ). (aspetjournals.org)

Mutational genomics and targeted exome capture identify Sr26 and Sr61 as separate single genes that encode unrelated (34.8%) nucleotide binding site leucine rich repeat proteins. (nature.com)
Channels made with the altered CACNA1S proteins likely activate the RYR1 channel improperly in response to certain drugs (particularly some anesthetics and a type of muscle relaxant used during surgery). (medlineplus.gov)
Genes encoding disrupted complementary interactors tend to be risk genes, and an interaction network built from these proteins is enriched for ASD proteins. (springer.com)
In order to swim, sperm cells rely on special membrane proteins, called ion channels, that regulate ion flow. (acsh.org)
Built YchM deletion exhibited artificial lethality with multiple fatty acidity biosynthesis genes, as well as the YchM polypeptide bodily interacted numerous proteins from the fatty acidity biosynthetic pathway. (exposed-skin-care.net)
The protein encoded by this gene is one of a family of related proteins that transports glucose into cells by facilitated diffusion. (pearson.com)
This region of the chromosome has a cluster of genes that encode the hard proteins, which are involved in the formation of hair and nails. (pearson.com)
Many of these genes encode proteins (e.g., enzymes involved in protein glycosylation) rarely associated with viruses. (uml.edu)
Takata K, Matsuzaki T, Tajika Y. Aquaporins: water channel proteins of the cell membrane. (benthamscience.com)
Genes encoding proteins that affect neurotransmitter release, receptor function and inactivation have been implicated in autism. (sfari.org)
These findings suggest that while channel proteins found in sperm cells from different species look similar and serve similar roles, they are activated in ways that can be very different. (elifesciences.org)
For example, the T8K mutation affects the N-terminal, which is the part of the channel involved in membrane transport and interacting with other proteins. (genomeweb.com)
This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. (antibodies-online.com)
Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. (antibodies-online.com)
[ 7 ] Connexins are a family of transmembrane proteins that assemble into hexameric hemichannels and form gated intercellular gap junction channels. (medscape.com)
The main aim of our research is to understand the molecular details and physiological roles of the multitude of water channel-like proteins present in plants and animals. (lu.se)
There are a myriad of mutations identified in genes encoding cardiac transcription factors, ion channels, gap junctions, energy metabolism regulators, lamins and other structural proteins. (medscape.com)

Sr60 is an exception that encodes a tandem kinase protein 10 . (nature.com)
It resides in the membrane of the endoplasmic reticulum to channel two types of cargo: protein substrates and calcium ions. (amrita.edu)
Channels containing the CACNA1S protein are found in muscles used for movement (skeletal muscles). (medlineplus.gov)
Mutations in the CACNA1S gene change single protein building blocks (amino acids) used to make the CACNA1S protein, which alters the structure and function of calcium channels in skeletal muscle cells. (medlineplus.gov)
We investigate the functional relevance of de novo missense variants, specifically whether they are likely to disrupt protein interactions, and nominate novel genes in risk for ASD through integrated genomic, transcriptomic, and proteomic analyses. (springer.com)
Finally, we integrate protein interactions and cell-type-specific co-expression networks together with published association data to implicate novel genes in ASD risk in a cell-type-specific manner. (springer.com)
Consistent with other studies, genes identified by disrupted protein interactions are expressed early in development and in excitatory and inhibitory neuronal lineages. (springer.com)
Disrupted protein interactions identify gene sets involved in risk for ASD. (springer.com)
Using the newly released and larger ASC dataset, we confirm these observations and take them in several new directions: (1) By defining a set of genes encoding these disrupted protein interactors in ASD subjects and another for their siblings, we evaluate their expression patterns in developing brain from fetal to early postnatal development and within general cell types of brain tissue. (springer.com)
Thus, most of the expression studies have relied on techniques that allow visualization of sodium channel subtypes at the level of mRNA and protein. (nih.gov)
Accessory potassium channel protein which modulates the activity of the pore-forming alpha subunit. (ucsc.edu)
Here we report biallelic variants in CACNA2D1, encoding the α2δ-1 protein, in two unrelated individuals showing a developmental and epileptic encephalopathy (DEE). (stanford.edu)
Smooth muscle cells express Kv7.4 and Kv7.5 voltage-dependent potassium channels, which have each been implicated as regulators of smooth muscle contractility, though they display different sensitivities to signaling via cAMP/protein kinase A (PKA) and protein kinase C (PKC). (aspetjournals.org)
The protein encoded by this gene appears to act as the gatekeeper for the cell-cycle control system that regulates cell growth and division. (pearson.com)
The only known function of the enzyme encoded in this gene is the inactivation of a protein (BLM) that's toxic to the lungs. (pearson.com)
Analysis of two highly expressed genes from Chlorella virus PBCV-1: Protein characterization and the DNA sequences of the major capsid protein gene and the early/late 33-kDa protein gene. (uml.edu)
Mounting evidence has demonstrated that AQP4, a water channel protein, is closely correlated with brain edema and could be an optimal therapeutic target for the reduction of ischemic brain edema. (benthamscience.com)
Spinocerebellar ataxia type 35 (SCA35) is a rare, autosomal dominant neurodegenerative disorder associated with mutations in TGM6 gene that encode the protein transglutaminase 6 (TG6). (ataxia.org)
This focuses on the expression of the human tdp1 mutant gene in brain tissue of flies lacking the endogenous Gkt protein. (ataxia.org)
The encoded protein is the predominant aquaporin found in brain. (antibodies-online.com)
This gene encodes a protein belonging to the syntrophin family. (antibodies-online.com)
The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. (antibodies-online.com)
CRISPR gene editing is used to remove a gene from immune T cells that encodes a protein called PD-1 that tumor cells can use to evade an immune attack. (who.int)

The phylogenetically ancient SLC26 gene family encodes multifunctional anion exchangers and anion channels transporting a wide selection of substrates, including Cl? (exposed-skin-care.net)
An evolutionarily conserved gene family encodes proton-selective ion channels Science 2018, 359: 1047-1050. (yale.edu)

Genes encoding K+ channels are strongly linked to addiction phenotypes. (musc.edu)
Suppression of egl-2(gf) phenotypes by imipramine likely results from the block of EGL-2( gf ) channels. (jneurosci.org)
Finally, it seems appropriate to consider the "sodium channel syndrome" (mutations in the gene of the α subunit of the sodium channel, SCN5A gene) as a single clinical entity that may manifest in a wide range of phenotypes, to thus have a better insight on these cardiac syndromes and potential outcomes for their clinical treatment. (bvsalud.org)
We provide strong evidence for a role of genetic factors in SUDP, involving both candidate genes and novel genes for SUDP and expanding phenotypes of disease genes not previously associated with sudden death. (cdc.gov)

Molecular diagnostic testing for mutations in the connexin genes GJB3, GJB4 , and GJA1 is available. (medscape.com)
Approximately two thirds of cases of EKVP are caused by heterozygous missense variants in the connexin genes GJB3 , encoding connexin-31 (Cx31), and GJB4 , encoding connexin-30.3 (Cx30.3). (medscape.com)

Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. (ucsc.edu)
Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. (antibodies-online.com)

Around 80% of affected patients with DS carry a mutation in the alpha-1 subunit of the sodium channel of the SCN1A gene localized in 2q24.3, encoding a voltage-gated sodium channel essential for the excitability of neurons. (hindawi.com)
In the hypokalemic form, 70% of affected people have a mutation in the alpha-subunit of the voltage-sensitive muscle calcium channel gene on chromosome 1q (HypoPP type I). In some families, the mutation is in the alpha-subunit of the sodium channel gene on chromosome 17 (HypoPP type II). (msdmanuals.com)

Increased frequencies and amplitudes of excitatory synaptic potentials have been observed in mouse models bearing human mutations in genes such as NLGN3, SHANK3, TSC1 and TSC2. (sfari.org)

When the most common mutation in Kir6.2 was coexpressed with sulfonylurea receptor 1 in Xenopus laevis oocytes, the ability of ATP to block mutant K(ATP) channels was greatly reduced. (ox.ac.uk)
We show that the Caenorhabditis elegans egl-2 gene encodes an eag K + channel and that a gain-of-function mutation in egl-2 blocks excitation in neurons and muscles by causing the channel to open at inappropriately negative voltages. (jneurosci.org)
Here we report that the behavioral defects in the C. elegans egl-2 mutant are caused by a gain-of-function ( gf ) mutation in an eag-like K + channel. (jneurosci.org)
The genetic alteration causative of SCAN-1 is a mutation altering the function of a gene called tdp1 (tyrosyl- DNA phosphodiesterase 1). (ataxia.org)

With roughly 30,000 genes in mammalian genomes, fection with a vector encoding MyoD (Tapscott et al. (lu.se)

Do reported variants in genes that regulate autophagy, or cellular self-ingestion, play a role in synapse elimination? (sfari.org)

Here, we isolate from wheat, Sr26 and Sr61 , with both genes independently introduced as alien chromosome introgressions from tall wheat grass ( Thinopyrum ponticum ). (nature.com)
derived Sr gene, Sr61 (previously designated SrB ), was identified in South African wheat accession W3757, which carries a 6Ae#3 (6D) chromosome substitution 16 . (nature.com)
The Human Genome Project: Genes on Human Chromosome 17 The location of genes is designated by an established labeling system for chromosomes. (pearson.com)
To indicate the location of a gene on a particular chromosome, the chromosome number is followed by p or q and then a number that represents the band and sub-band. (pearson.com)
388 genes have been identified on human chromosome 17. (pearson.com)
This identified approximately 140 chromosome loci where nucleotides deviated from the reference sequence GRCh37 hg19 comprising the three genes TRPV1, LTB4R and LTB4R2. (researchgate.net)
disorder usually caused by mutations to the KCNJ2 gene located on chromosome 17q24.3 or, rarely, to the KCNJ5 gene. (msdmanuals.com)

We narrowed the genetic disease interval and identified a 3,441-bp deletion in the Kcnn2 gene, one of the three candidate genes present in the interval. (pasteur.fr)

Differentially expressed genes (DEGs) were identified by comparing the gene expression of NIDCM patients with or without VA in the gene expression profile of GSE135055. (hindawi.com)
In order to reveal the inherent molecular mechanism, NIDCM patients were divided into sinus rhythm (SR) group and VA group and differentially expressed genes (DEGs) were identified via bioinformatic methods. (hindawi.com)
These findings may improve our understanding of the roles of these channels in smooth muscle physiology and disease, particularly in conditions where Kv7.4 and Kv7.5 are differentially expressed. (aspetjournals.org)

Several autism-risk genes affect the function of chemical synapses. (sfari.org)
What is the influence of neuronal activity on the expression of autism-risk genes? (sfari.org)

Since genetic dissection of genes within alien segments in wheat was not possible due to lack of recombination, the question arose as to whether the apparent durability of such resistances might be due to multiple genes rather than a single gene. (nature.com)
From January 1999 till December 2016, eight unrelated Lebanese children aged between 6 and 18 months were referred for genetic counselling and molecular analysis of the SCN1A gene because of suspicion of DS. (hindawi.com)
The Chang lab uses state-of-the-art molecular, genetic, and imaging approaches including single-cell gene expression profiling, virus-based anatomical tracing, in vivo imaging, optogenetics, and chemogenetics to functionally dissect out diverse organ-to-brain circuits. (yale.edu)
Behavioral and pharmacological studies of these mutants may provide insight into the genetic and mechanistic basis of K + channel dysfunction in vivo . (jneurosci.org)
Genetic engineering has been used to clone this growth hormone gene, which has enabled the production of growth hormone used in the treatment of pituitary dwarfism. (pearson.com)
The method adds a large amount of genetic information as a basis for complete analysis of TRPV1 ion channel genetics and its functional consequences. (researchgate.net)
And while a number of genes have been linked to familial and idiopathic PAH, the genetic cause of about a quarter of familial cases of the disease is unknown. (genomeweb.com)
Molecular genetic testing for sequence variants in the GJB3 , GJB4 , and GJA1 genes is available (also as next-generation sequencing panel) and expected to yield a positive result in at least two thirds of patients. (medscape.com)
Autosomal Dominant Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. (msdmanuals.com)
Human genetic studies have identified mutations in the sodium channel SCN5A gene causing tachyarrhythmia disorders, as well as progressive cardiac conduction system diseases, or overlapping syndromes. (medscape.com)

In order to understand the effects of sodium channels on synaptic signaling and response in the cerebellum, it is essential to know for each class of neuron what sodium channel isoforms are present, and the properties and distribution of each. (nih.gov)
All sodium channels recorded in the cerebellum are TTX-sensitive with similar kinetics, making it difficult to identify the isoforms electrically. (nih.gov)
Some sodium channel isoforms that are not expressed normally in the adult cerebellum are expressed in animals with mutations or disease. (nih.gov)

In skeletal muscle, there is a very high concentration of L-type calcium channels, situated in the T-tubules. (wikipedia.org)
L-type calcium channels were peptide sequenced and it was found that there were 4 kinds of L-type calcium channels: α1S (Skeletal Muscle), α1C (Cardiac), α1 D (found in the brain), and α1F (found in the retina). (wikipedia.org)
These skeletal muscle calcium channels play a key role in a process called excitation-contraction coupling, by which electrical signals (excitation) trigger muscle tensing (contraction). (medlineplus.gov)
The hyperkalemic form is due to mutations in the gene that encodes the alpha-subunit of the skeletal muscle sodium channel ( SCN4A ). (msdmanuals.com)

This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. (ucsc.edu)

RYR1 channels are located in the membrane of a structure inside the cell that stores calcium ions. (medlineplus.gov)
Signals transmitted by CACNA1S-containing channels turn on (activate) RYR1 channels, which then release calcium ions inside the cells. (medlineplus.gov)
The altered channels open more slowly than usual, reducing the flow of calcium ions into these cells. (medlineplus.gov)
This channel is activated by signalling molecules inside cells, called 'cyclic nucleotides', and its activity ultimately leads to calcium ions flowing into the sperm cell's tail. (elifesciences.org)

At least 11 mutations in the CACNA1S gene have been identified in people with hypokalemic periodic paralysis, a condition that causes episodes of extreme muscle weakness, usually in the arms and legs. (medlineplus.gov)
2, 3, 4] Mutations in at least 11 genes that play a role in regulating beta-cell insulin secretion have been implicated in the pathogenesis of HI. (medscape.com)

In sea urchin sperm, a cyclic nucleotide-gated K + channel (CNGK) mediates a cGMP-induced hyperpolarization that evokes Ca 2+ influx. (elifesciences.org)
Disease relevance of NA The complete nucleotide sequence of the neuraminidase gene of influenza. (wikigenes.org)

A minority of DS patients might have pathogenic variants in other genes such as PCDH19 , SCN1B , SCN8A , HCN1 , GABRA1 , and GABRG2 [ 5 ], and other pathologies close to DS might then be considered as differential diagnosis. (hindawi.com)
In rare cases, pathogenic missense changes in the GJA1 gene encoding connexin-43 (Cx43) have been reported. (medscape.com)

They have also been seen to play a role in gene expression, mRNA stability, neuronal survival, ischemic-induced axonal injury, synaptic efficacy, and both activation and deactivation of other ion channels. (wikipedia.org)
For genes encoding the disrupted interactions, we evaluate their expression patterns across developing brains and within specific cell types, using both bulk and inferred cell-type-specific brain transcriptomes. (springer.com)
Using inferred gene co-expression for three neuronal cell types-excitatory, inhibitory, and neural progenitor-we implicate several hundred genes in risk (FDR \(\le \hspace{0.17em}\) 0.05), ~ 60% novel, with characteristics of genuine ASD genes. (springer.com)
Their gene expression during brain development and within cell types highlights how they relate to ASD. (springer.com)
In this study, we systematically analyzed CD19 CAR-T cells of 10 children with R/R B-ALL enrolled in the CARPALL trial via high-throughput single-cell gene expression and T cell receptor sequencing of infusion products and serial blood and bone marrow samples up to 5 years after infusion. (nature.com)
We download the microarray expression dataset (GSE135055) from the Gene Expression Omnibus (GEO) database [ 9 ]. (hindawi.com)
Based on the regression coefficient and the expression value of each selected gene obtained by the multivariate Cox regression model, the risk score of each patient was calculated, then we separated 17 patients into high-risk and low-risk groups using the median risk score as the cutoff. (hindawi.com)
Expression and Activity of Methionine Cycle Genes Are Altered Following Folate and Vitamin E Deficiency Under Oxidative Challenge: Modulation by Apolipoprotein E-Deficiency. (uml.edu)
If expression of a trait requires only one copy of a gene (one allele). (msdmanuals.com)
Increasing gene dosage greatly enhances recombinant expression of aquaporins in Pichia pastoris. (lu.se)
states'' or gene expression patterns. (lu.se)
Similarly, GATA-1 has been shown to induce lineage switching expression values even if, for simplicity, we assume only ``on'' of committed cells in hematopoiesis, first in cell lines (Kulessa and ``off'' states for each gene. (lu.se)
In reality, gene somatic cells to a pluripotent cell state by a handful of transcrip- expression is graded, making the potential gene expression tion factors (Takahashi and Yamanaka, 2006). (lu.se)

From a physiological and pathophysiological point of view, the conformational states of the sodium channel during heart function constitute a significant aspect for the diagnosis and treatment of heart diseases. (bvsalud.org)

Homo sapiens potassium voltage-gated channel subfamily A regulatory beta subunit 2 (KCNAB2), transcript variant 2, mRNA. (ucsc.edu)

The SEC61A1 gene encodes for the pore-forming Sec61α subunit of the Sec61 complex. (amrita.edu)

Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis. (medlineplus.gov)

Indeed, manifestation of SulP genes Rv1739c and Rv1707 was upregulated in triggered macrophages 24 hrs post-infection, therefore may are likely involved in mycobacterial success, latency, or pathogenesis in hypoxic BIIE 0246 supplier or additional stress circumstances. (exposed-skin-care.net)
There remain approximately 50% of diazoxide-responsive cases and 10% of diazoxide-unresponsive cases of persistent HI with unknown etiology, suggesting that additional genes may be identified in the pathogenesis of HI. (medscape.com)
Streptococcal pathogens continue to evade concerted efforts to decipher clear-cut virulence mechanisms, although numerous genes have been implicated in pathogenesis. (cdc.gov)

Coupled with genetically encoded fluorescent biosensors, photometry can monitor drug-induced alterations in neuronal activity in deep brain structures during complex behaviors. (musc.edu)
The non-specific lethal complex regulates genes and pathways genetically linked to Parkinson's disease. (medscape.com)

They are also found in neurons, and with the help of L-type calcium channels in endocrine cells, they regulate neurohormones and neurotransmitters. (wikipedia.org)
Select ion channels that influence neuronal activity also critically regulate alcohol-associated plasticity and alcohol-seeking behaviors. (musc.edu)
Genes that regulate activity-dependent synaptic plasticity, including ARC, have been implicated in autism. (sfari.org)

Ten genes encode an alpha subunit in mammals, and of these, four are expressed in the cerebellum: Nav1.1, Nav1.2, Nav1.3 and Nav1.6. (nih.gov)

The prominence of Kv7 channels as regulators of electrical excitability may be ascribed to their unique properties, such as a very negative threshold of activation (negative to −50 mV), absence of time-dependent inactivation, and high sensitivity to signal transduction pathways that influence their probability of opening, either positively or negatively ( Delmas and Brown, 2005 ). (aspetjournals.org)

We report 8 Lebanese cases referred for molecular analysis of the SCN1A gene. (hindawi.com)
Kuo, 1998 ), but the molecular identities of these channels are unknown. (jneurosci.org)
Molecular cloning of a mercurial-insensitive water channel expressed in selected water-transporting tissues. (benthamscience.com)
In addition we have recently started to explore the structure and molecular function of pain receptors from animals, i.e. transient receptor potential (TRP) ion channels, and their activation by temperature and various ligands. (lu.se)

Because ATP-sensitive potassium (K(ATP)) channels mediate glucose-stimulated insulin secretion from the pancreatic beta cells, we hypothesized that activating mutations in the gene encoding the Kir6.2 subunit of this channel (KCNJ11) cause neonatal diabetes. (ox.ac.uk)

For example, cerebellar granule cells express six subunit genes abundantly (α 1 , α 6 , β 2 , β 3 , γ 2 , and δ), and so they probably have several distinct GABA A receptor subtypes of unknown subunit stoichiometry. (jneurosci.org)
Yang B, Ma T, Verkman A. cDNA cloning, gene organization, and chromosomal localization of a human mercurial insensitive water channel evidence for distinct transcriptional units. (benthamscience.com)

Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). (ucsc.edu)
Similar inhibition is observed with the mouse homolog MEAG, suggesting that inhibition of EAG-like channels may mediate some clinical side effects of this class of antidepressants. (jneurosci.org)

Patients with alterations in this gene can experience a progressive visual loss with onset of night blindness between 4 and 10 years of age. (pearson.com)

This is because Drosophila genes controlling fundamental cellular functions, such as cell growth and death, are quite identical to those found in human cells. (ataxia.org)
High impact information on na Drosophila mutants of a putative ion channel, narrow abdomen( na ), exhibit poor circadian rhythms and suppressed daylight activity. (wikigenes.org)

CONCLUSIONS: Heterozygous activating mutations in the gene encoding Kir6.2 cause permanent neonatal diabetes and may also be associated with developmental delay, muscle weakness, and epilepsy. (ox.ac.uk)
Results were positive in 7 cases and revealed de novo variants at the heterozygous state in different exons of the gene for all except one, where the variant was intronic. (hindawi.com)

The gene BLMH is located at 17q11.2, and the gene encodes an enzyme. (pearson.com)
This gene, DCP1, located at 17q23, codes for an enzyme that plays an important role in blood pressure regulation. (pearson.com)
This gene, MPO, located at 17q23.1, encodes an enzyme that is found in white blood cells and increases the ability of these cells to kill microorganisms. (pearson.com)
The product of this gene is an enzyme that plays a key role in DNA repair processes whose defective activity causes failure to reseal broken DNA strands causing neurodegeneration. (ataxia.org)

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. (ucsc.edu)
This member alters functional properties of the KCNA4 gene product. (ucsc.edu)
To address the question of specificity for the allele encoding the Na V 1.4-R669H variant as a cause of HypoPP and to produce a model system in which to characterize functional defects of the mutant channel and susceptibility to paralysis, we generated knockin mice carrying the ortholog of the gene encoding the Na V 1.4-R669H variant (referred to herein as R669H mice). (jci.org)
Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. (thermofisher.com)
Functional states of the sodium channel (closed, open, and inactivated) and their structure help to understand the cardiac regulation processes. (bvsalud.org)
Heart relaxation also stands out as an active process, dependent on the energetic output and on specific ion and enzymatic actions, with the role of sodium channel being outstanding in the functional process. (bvsalud.org)

The ion channel CatSper, for instance, regulates calcium ion flow in the sperm's tail. (acsh.org)

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. (ox.ac.uk)

In this report, we describe a deletion in the 5′ region of the Kcnn2 gene encoding the SK2 subunit in the mouse neurological frissonnant (fri) mutant. (pasteur.fr)
Mutant EGL-2( gf ) channels exhibited a negative shift in voltage dependence of activation, and both wild-type (WT) and mutant currents were blocked by imipramine. (jneurosci.org)
Through electrophysiological studies of mutant KCNK3 potassium channels, the researchers found that all six variants led to changes to the channel and a loss of its function. (genomeweb.com)
To try to rescue the effects of these mutations, Chung and her colleagues turned to a phospholipase A2 inhibitor that had previously been shown to activate non-mutant KCNK3 channels. (genomeweb.com)
In cell cultures, they found that the application of phospholipase A2 inhibitor ONO-RS-082 could increase the current density of two of the three mutant channels tested to non-mutant levels, suggesting a possible therapeutic for some PAH patients. (genomeweb.com)
In contrast with the 3 other drugs, S107 was able to prevent a major post-translational modification of RyR2-H29D mutant channels, the loss of calstabin2 binding to RyR2. (bvsalud.org)

K + channels are key regulators of cellular excitability. (jneurosci.org)
Mutations that activate K + channels can lower cellular excitability, whereas those that inhibit K + channels may increase excitability. (jneurosci.org)

CRISPR/Cas9-mediated Knockout of the Neuropsychiatric Risk Gene KCTD13 Causes Developmental Deficits in Human Cortical Neurons Derived from Induced Pluripotent Stem Cells. (nih.gov)
Methods A next-generation sequencing (NGS) panel was created for the human TRPV1 gene and in addition, for the leukotriene receptors BLT1 and BLT2 recently described to modulate TRPV1 mediated sensitisation processes rendering the coding genes LTB4R and LTB4R2 important co-players in pharmacogenetic approaches involving TRPV1. (researchgate.net)
The NGS workflow was based on a custom AmpliSeq™ panel and designed for sequencing of human genes on an Ion PGM™ Sequencer. (researchgate.net)
Disease relevance of NA Structure of the neuraminidase gene in human influenza virus A/ PR/ 8/ 34. (wikigenes.org)
Disease relevance of na Although differing in their surface hemagglutinin and neuraminidase components, a notable feature of these H9N2 viruses is that the six genes encoding the internal components of the virus are similar to those of the 1997 H5N1 human and avian isolates. (wikigenes.org)
Reconstitution of water channel function and 2D-crystallization of human aquaporin 8. (lu.se)
pendent of those associated with cretory ducts, columnar epithelia the KRAS gene is more frequent- other key mechanistic characteris- lining the gastrointestinal tract and ly mutated in human cancer, which tics of IARC Group 1 carcinogens. (who.int)
This rate is patterns, gene sequencing, immuno- Centre for Disease Prevention and higher than that of severe acute respira- genicity and the animal-human and hu- Control (ECDC) and the National In- tory syndrome coronavirus (SARS), man-human interfaces. (who.int)

In genetics, it's common to identify a gene that is the source of a disease. (genomeweb.com)

Putative Gene Promoter Sequences in the Chlorella Viruses. (uml.edu)
A cohort of 80 healthy subjects of Western European descent was screened to evaluate and validate the detection of exomic sequences of the coding genes with 25 base pair exon padding. (researchgate.net)
CRISPR / Cas9 has changed the field of gene editing by making it much simpler and faster to modify DNA sequences with high precision. (who.int)

Of those, the G203D missense variant in KCNK3 stood out to the researchers as a strong disease-causing variant as the gene encodes a potassium channel. (genomeweb.com)

METHODS: We sequenced the KCNJ11 gene in 29 patients with permanent neonatal diabetes. (ox.ac.uk)
The insulin secretory response to intravenous glucagon, glucose, and the sulfonylurea tolbutamide was assessed in patients who had mutations in the gene. (ox.ac.uk)
A total of 228 DEGs were obtained, and 3 genes were screened out to be significantly related to the survival time of NIDCM patients. (hindawi.com)
We established a prediction model on two-gene ( TOMM22 , PPP2R5A ) signature for the survival time of NIDCM patients. (hindawi.com)

L-type calcium channels are responsible for the excitation-contraction coupling of skeletal, smooth, cardiac muscle, and for aldosterone secretion in endocrine cells of the adrenal cortex. (wikipedia.org)
Calcium channels made with the CACNA1S subunit are located in the outer membrane of muscle cells, so they can transmit electrical signals from the cell surface to inside the cell. (medlineplus.gov)
Across cell types, these genes affect neuronal morphogenesis and neuronal communication, while neural progenitor cells show strong enrichment for development of the limbic system. (springer.com)
Ion channels are found in most cells, and their role is particularly well-known for heart, muscle, and nerve cells. (acsh.org)
Some ion channels, however, are unique to sperm cells, and these could be attractive targets. (acsh.org)
We hypothesize that EGL-2( gf ) channels cause behavioral defects through suppression of excitability in critical cells. (jneurosci.org)
In 2009, researchers identified a potassium ion channel, called CNGK, that starts the electrical signal in the sperm cells of sea urchins. (elifesciences.org)
including some of the researchers involved in the 2009 work - now report that the CNGK channel also exists in the sperm cells of a freshwater fish, the zebrafish. (elifesciences.org)
Unexpectedly, the CNGK channel is located in the heads of this fish's sperm cells rather than in the tails. (elifesciences.org)
In contrast to nonpacemaker cells, SA and AV nodal cells predominantly use calcium channels for the initial upstroke in phase 0 (Fig. 1) and lack sodium ion channels for the rapid initial upstroke in phase 1 of their action potentials. (medscape.com)

In cardiac myocytes, the L-type calcium channel passes inward Ca2+ current (ICaL) and triggers calcium release from the sarcoplasmic reticulum by activating ryanodine receptor 2 (RyR2) (calcium-induced-calcium-release). (wikipedia.org)
Phosphorylation of these channels increases their permeability to calcium and increases the contractility of their respective cardiac myocytes. (wikipedia.org)

In mice, this gene is absolutely essential for sustained growth and expected longevity. (pearson.com)

Whole-brain immediate early gene mapping and network analysis is used to identify brain connectivity in health and disease. (musc.edu)
In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms. (genomeweb.com)
ClinGen definitively disease-associated inherited heart disease genes were amplified using RNA extracted from fresh blood, derived cardiomyocytes, and myectomy tissue. (cdc.gov)
Correction to: Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease. (medscape.com)

The L-type calcium channel (also known as the dihydropyridine channel, or DHP channel) is part of the high-voltage activated family of voltage-dependent calcium channel. (wikipedia.org)
Kv7 family channels mediate a voltage-dependent outward flux of potassium ions, which contributes to the establishment of negative membrane potentials in many cell types. (aspetjournals.org)
RESULTS: The voltage-dependent Ca2+ channel inhibitor verapamil did not prevent the aberrant release of sarcoplasmic reticulum (SR) Ca2+ in the RyR2-H29D hiPSC-CMs, whereas it was prevented by S107, flecainide or propranolol. (bvsalud.org)

Anatomy26

Organisms14

Diseases2

Chemicals and Drugs165

Analytical, Diagnostic and Therapeutic Techniques and Equipment9

Phenomena and Processes35

Disciplines and Occupations2

Technology, Industry, Agriculture1

Information Science3

Subunits13

Proteins17

Protein23

Family encodes2

Phenotypes4

Connexin genes2

Transcript variants encoding distinct2

Subunit of the sodium channel2

Mutations in genes1

Mutation4

Mammalian genomes1

Variants in genes1

Chromosome7

Candidate genes1

Differentially expressed3

Risk genes2

Genetic10

Isoforms3

Skeletal Muscle4

Shaker-related subfamily1

Calcium ions4

Least 112

Nucleotide2

Pathogenic2

Expression13

Diseases1

Subfamily A regulatory beta subunit1

Pore1

Alpha 1-subunit1

Pathogenesis3

Genetically2

Regulate3

Mammals1

Pathways1

Molecular4

Pancreatic1

Distinct2

Homolog2

Alterations1

Drosophila2

Heterozygous2

Enzyme4

Functional6

Regulates1

Kir6.21

Mutant6

Cellular2

Human8

Genetics1

Sequences3

Variant1

Patients4

Cells10

Cardiac myocytes2

Mice1

Disease4

Voltage-dependent3