• The experiments show that a flow of chloride ions out of the melanosome is required for melanin to be produced. (elifesciences.org)
  • propose that OCA2 is part of an ion channel that allows chloride ions to pass through the membrane, to make the melanosome less acidic and enable melanin to be produced. (elifesciences.org)
  • The channel transports negatively charged particles called chloride ions into and out of cells. (medlineplus.gov)
  • The transport of chloride ions helps control the movement of water in tissues, which is necessary for the production of thin, freely flowing mucus. (medlineplus.gov)
  • Mutations in the CFTR gene disrupt the function of the chloride channel, preventing the usual flow of chloride ions and water into and out of cells. (medlineplus.gov)
  • The resulting abnormal channel breaks down shortly after it is made, so it never reaches the cell membrane to transport chloride ions. (medlineplus.gov)
  • All of these changes prevent the channel from functioning properly, which impairs the transport of chloride ions and the movement of water into and out of cells. (medlineplus.gov)
  • However, as runoff flows through a watershed, the slightly acidic nature of rainwater can release ions (negatively or positively charged particles) from soil and rock which dissolve in water and increase specific conductance. (texas.gov)
  • CFTR controls the passage of chloride ions in and out of cells in any organ in your body that makes mucus. (healthline.com)
  • Cystic fibrosis results from a genetic mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which produces a faulty ion channel that prevents chloride ions from exiting cells in the lungs and other organs. (nationaljewish.org)
  • Ivacaftor, already approved for treatment of certain forms of cystic fibrosis, helps keep the faulty ion channel on the cell surface open so chloride and other ions can exit the cell. (nationaljewish.org)
  • 1.1 This test method covers the determination of the electrical conductance of concrete to provide a rapid indication of its resistance to the penetration of chloride ions. (ansi.org)
  • In this HOT paper , the Schmitzer group at the Université de Montréal are particularly interested in the transport of chloride ions in epithelial cells through calcium activated ion channels. (rsc.org)
  • They hope to mediate the concentrations of both calcium and chloride ions using synthetic ionophores. (rsc.org)
  • Building on their research into imidazolium amphiphiles , they have developed a benzimidazolium-based compound that increases chloride flux in a variety of lipid bilayer systems, and increases bacterial cell wall permeability to calcium ions. (rsc.org)
  • Once membrane depolarization is complete, the membrane becomes impermeable to sodium ions again, and the conductance of potassium ions into the cell increases. (medscape.com)
  • Many heterologously expressed mutants of the cystic fibrosis transmembrane conductance regulator (CFTR) exhibit residual chloride channel activity that can be stimulated by agonists of the adenylate cyclase/protein kinase A pathway. (nih.gov)
  • The CFTR gene provides instructions for making a protein called the CF transmembrane conductance regulator (CFTR). (medlineplus.gov)
  • Disease-causing mutations in the CFTR gene alter the production, structure, or stability of the chloride channel. (medlineplus.gov)
  • In patients with symptoms suggestive of cystic fibrosis (CF) and intermediate sweat chloride values (30-60 mmol/l), extensive CFTR gene mutation analysis and nasal potential difference (NPD) measurement are used as additional diagnostic tests and a positive result in either test provides evidence of CFTR dysfunction. (bmj.com)
  • The phenotypic features of four groups were compared: 59 patients with CFTR dysfunction, 46 with an intermediate sweat chloride concentration but no evidence of CFTR dysfunction (CF unlikely), 103 patients with CF and pancreatic sufficiency (CF-PS) and 62 with CF and pancreatic insufficiency (CF-PI). (bmj.com)
  • Patients with intermediate sweat chloride values and two CFTR mutations or an abnormal NPD measurement have a CF-like phenotype compatible with CFTR dysfunction and, as a group, differ phenotypically from patients with intermediate sweat chloride values in whom further CF diagnostic tests are normal as well as from CF-PS and CF-PI patients. (bmj.com)
  • 5 6 In patients with this milder phenotype, the sweat chloride concentration is often in the intermediate range (ie, 30-60 mmol/l). 7 8 Diagnosis of CF is then supported by CFTR mutation analysis and/or bioassays of CFTR protein function such as nasal potential difference (NPD) measurement. (bmj.com)
  • People with cystic fibrosis have a mutation on chromosome 7 that affects a protein called the "cystic fibrosis transmembrane conductance regulator (CFTR). (healthline.com)
  • When the CFTR protein doesn't work properly or doesn't exist, chloride isn't able to move through the body the right way. (healthline.com)
  • It is caused by variants in the CF transmembrane conductance regulator (CFTR) gene and is inherited in an autosomal recessive fashion. (pulsetoday.co.uk)
  • The CFTR protein forms an ion channel that transports chloride and bicarbonate at the apical membrane of epithelial cells. (pulsetoday.co.uk)
  • The Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene codes the function of the chloride ion channel which is at the surface of some epithelial cells. (drugs.com)
  • Mutations to the CFTR gene causes defects in chloride transport that leads to an alteration of epithelial fluid transport in the lung and other organs, which causes cystic fibrosis. (drugs.com)
  • CFTR potentiators repair defects in chloride transport, and are used to treat cystic fibrosis patients with a specific gene mutation. (drugs.com)
  • Cystic fibrosis transmembrane conductance regulator (CFTR): closed and open state channel models. (ucl.ac.uk)
  • The cystic fibrosis transmembrane conductance regulator (CFTR) is a member of the ATP binding cassette (ABC) transporter superfamily. (ucl.ac.uk)
  • Cystic fibrosis (CF) is an autosomal recessive disorder caused by defects in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. (confex.com)
  • Both glutathione S-transferase pi ( GSTpi ) (80%, 24/30 in tumor and 56.7%, 17/30 in the paired non-cancerous tissues) and cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) ( CFTR ) (77%, 23/30 in tumor and 50%, 15/30 in the paired non-cancerous tissues) genes were prevalently hypermethylated in HCC as well as their neighboring non-cancerous tissues. (wjgnet.com)
  • Cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapies, such as Trikafta, are designed to correct the malfunctioning protein made by the CFTR gene. (cysticfibrosis.ca)
  • The CFTR protein regulates the proper flow of water and chloride in and out of cells lining the lungs and other organs. (cysticfibrosis.ca)
  • It's due to a genetic mutation that affects the production or function of a protein called cystic fibrosis transmembrane conductance regulator (CFTR). (healthline.com)
  • Reduced CFTR function causes less chloride to make it to the surface of the cells in your airways. (healthline.com)
  • ENaC is thought to be regulated, in part, through association with the cystic fibrosis transmembrane conductance regulator (CFTR) chloride ion channel. (thermofisher.com)
  • Cystic fibrosis is caused by abnormalities in a gene called 'cystic fibrosis transmembrane conductance regulator' (CFTR). (europa.eu)
  • The CFTR gene is responsible for the production of CFTR, a protein that regulates the production of mucus and digestive juices by acting as a chloride ion channel to allow proper movement of salt and water in and out of certain cells in the lungs and other tissues. (europa.eu)
  • This compound will hopefully inspire new drugs to treat cystic fibrosis, which is caused by mutation of a chloride-ion channel known as the cystic fibrosis transmembrane conductance regulator protein (CFTR). (rsc.org)
  • Here, we investigate CRISPR-Cas9-mediated adenine base editing for such variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. (bvsalud.org)
  • Variability in CF lung disease has substantial non-CFTR (CF transmembrane conductance regulator) genetic influence. (bvsalud.org)
  • Cystic fibrosis (CF) has entered the era of variant-specific therapy, tailored to the genetic variants in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. (bvsalud.org)
  • sults: sodium 133 mmol/L, potassium membrane regulator gene ( CFTR ) on He was readmitted 5 more times 3.4 mmol/L, chloride 100 mmol/L and chromosome 7. (who.int)
  • It encodes a membrane-associated protein called the cystic fibrosis transmembrane conductance regulator (CFTR). (msdmanuals.com)
  • CFTR is a cyclic adenosine monophosphate (cAMP)-regulated chloride channel, regulating chloride, sodium, and bicarbonate transport across epithelial membranes. (msdmanuals.com)
  • The sensitivity and specificity of such testing can now be improved as a result of the recent discovery of the Cystic Fibrosis Transmembrane Conductance Regulatory (CFTR) gene. (cdc.gov)
  • The discovery of the Cystic Fibrosis Transmembrane Conductance Regulatory (CFTR) gene (5) renewed interest in this possibility, as the sensitivity and specificity of testing could be improved through DNA-based testing. (cdc.gov)
  • For infants 6 months and under, a chloride level of 29 mmol/L or less indicates CF is unlikely. (healthline.com)
  • A chloride level above 60 mmol/L means it is likely that the child has CF. If the chloride level is between 20 and 59 mmol/L, it means that CF is possible and the test could need to be repeated. (healthline.com)
  • For children and adults, a chloride level of 39 mmol/L or less indicates CF is unlikely. (healthline.com)
  • Analysis of serum electrolytes gave the following results: sodium 124 mmol/L, potassium 4 mmol/L, chloride 84 mmol/L, bicarbonate 29 mmol/L and creatinine 0.4 mg/dL. (who.int)
  • He underwent fluid resuscitation and investigations showed the following results: serum sodium 128 mmol/L, chloride 76 mmol/L, potassium 3.3 mmol/L, bicarbonate 28 mmol/L, anion gap 15.6 mmol/L, urea 35 mg/dL, creatinine 1.3 mg/dL, calcium 10.5 mg/dL, phosphorus 7.6mg/dL and magnesium 2.3 mg/dL. (who.int)
  • Here we used direct patch-clamp of skin and eye melanosomes to identify a novel chloride-selective anion conductance mediated by OCA2 and required for melanin production. (elifesciences.org)
  • Although mammalian SLC4/AE polypeptides mediate only electroneutral Cl - -anion exchange, trout erythroid AE1 also promotes osmolyte transport and increased anion conductance. (tcdb.org)
  • He never had significant respiratory problems throughout that period, The possibility of Bartter syndrome was raised, but the diagnosis was dismissed as his blood pressure was initially high, urinary chloride excretion was low with only slightly elevated levels of serum renin (320 ng/dL at rest and standing) and aldosterone (195 ng/dL at rest and 206 ng/dL while standing). (who.int)
  • It may also cause electrolyte and with similar biochemical abnormalities urinary chloride excretion (20 mg/dL) acid base disturbances, rarely the mode (Table 1). (who.int)
  • We report here such a case which initially high, urinary chloride excretion alkalosis to extra cellular compartment presented in infancy. (who.int)
  • Specific point mutations in human anion exchanger 1 (AE1) convert this electroneutral anion exchanger into a monovalent cation conductance. (tcdb.org)
  • To define the phenotype of such patients and confirm the validity of grouping them, patients with intermediate sweat chloride values in whom either additional CF diagnostic test was abnormal were compared with subjects in whom this was not the case and patients with classic CF. (bmj.com)
  • A sweat electrolyte test detects the amount of sodium and chloride in your sweat. (healthline.com)
  • It's also called an iontophoretic sweat test or chloride sweat test. (healthline.com)
  • People with CF have large amounts of chloride and sodium in their sweat. (healthline.com)
  • After an hour, the clinician will remove the disk with the sweat and send it to a lab for analysis of the amount of sodium and chloride. (healthline.com)
  • After being lost to follow-up for number of mutations affecting the in the sweat and the urine, resulting in several years, he was seen again at the chloride channel, the commonest being hypokalaemia [ 3,8-14 ]. (who.int)
  • CLCA proteins are thought to mediate calcium-activated chloride currents and are obviously involved in many other cellular functions, including mucus production,andhydration of mucus membranes of thenose, trachea and lungrespiratoryas well as theintestinal tractintestineandmodulation ofinnate immune responses. (fu-berlin.de)
  • Spontaneous and GABAR single-channel currents from α1β3ε receptors had single-channel conductances of ∼24 pS. (aspetjournals.org)
  • We also evidence that CIII neurons make use of atypical depolarizing chloride currents to encode cold, and that overexpression of ncc69 -a fly homologue of NKCC1 -results in phenotypes consistent with neuropathic sensitization, including behavioral sensitization and neuronal hyperexcitability, making Drosophila CIII neurons a candidate system for future studies of the basic mechanisms underlying neuropathic pain. (elifesciences.org)
  • CLCA1 (calcium-activated chloride channel regulator 1) was the most upregulated gene transcript (>100-fold) in all exposed mouse lungs versus controls, followed closely by SLC26A4, another transcript involved in Cl- conductance. (cdc.gov)
  • Despite the benefit of safer driving conditions, there are potentially negative environmental effects associated with the use of chloride-based deicers (such as magnesium chloride and sodium chloride). (usgs.gov)
  • This process elevates the concentration of total dissolved solids (TDS) remaining in the system water, including calcium, magnesium, chloride, and silica. (facilitymanagement.com)
  • Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. (avivasysbio.com)
  • This protein regulates the movement of chloride and sodium through the body. (healthline.com)
  • A chloride channel that regulates secretion in many exocrine tissues. (bvsalud.org)
  • mCLCA3 Does Not Contribute to Calcium-Activated Chloride Conductance in Murine Airways. (fu-berlin.de)
  • The Porcine Chloride Channel Calcium-Activated Family Member pCLCA4a Mirrors Lung Expression of the Human hCLCA4. (fu-berlin.de)
  • This defect leads to absent or malfunctioning chloride channels on the airway epithelium. (confex.com)
  • We report that the combination of α1β3ε subunit subtypes expressed in L929 cells produced functional chloride ion channels that were both spontaneously active and gated by the application of extracellular GABA. (aspetjournals.org)
  • Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. (avivasysbio.com)
  • Dissolved chloride concentrations tended to be greater in groundwater downgradient from I-5 compared to groundwater upgradient from the interstate. (usgs.gov)
  • The study results indicate that chloride levels in shallow groundwater downgradient from I-5 are increasing, but dissolved chloride concentrations in domestic wells are not above the U.S. Environmental Protection Agency drinking water recommendations. (usgs.gov)
  • Neuroactive steroid, an endogenous modulator of GABA A mediated chloride ion conductance. (tocris.com)
  • Specific conductance (SC), estimated chloride (Cl), and other major ion data sets used in an analysis of the extent to which deicer applications affect groundwater quality in the Siskiyou Pass area, southwestern Oregon, 2018 to 2021. (usgs.gov)
  • An unacceptable water sample may be based on bacterial analysis, chemical characteristics of the water (such as chlorides, iron and hardness) or physical characteristics (such as odor, taste and color). (ndsu.edu)
  • Influence of extracellular and intracellular pH on GABA-gated chloride conductance in crayfish muscle fibres. (ox.ac.uk)
  • The effect of intracellular and extracellular pH on GABA-gated Cl- conductance was studied using H(+)-selective microelectrodes and a three-microelectrode voltage clamp in crayfish leg opener muscle fibres in bicarbonate-free solutions. (ox.ac.uk)
  • The effect of extracellular pH on the GABA-gated peak conductance was approximately linear in the pH range 6.4-8.9. (ox.ac.uk)
  • La Revue de Santé de la Méditerranée orientale of hypercalciuria, hypocalcaemia, Discussion massive sodium chloride loss which re- hypomagnesaemia, hypermagnesuria sults in significant extracel ular volume or significant hypokalaemia. (who.int)
  • The present work studies the effect of salinity on PIP aquaporins gene expression in citrus roots and its relationship with root hydraulic conductance (Kr), transpiration rate (E) and chloride transport to leaves. (gva.es)
  • Expression of OCA2 increases organelle pH, suggesting that the chloride channel might regulate melanin synthesis by modulating melanosome pH. (elifesciences.org)
  • Specific conductance was a good predictor of dissolved chloride concentration (R 2 = 0.905). (usgs.gov)
  • Continuous monitoring showed that specific conductance measurements were greater at four downgradient spring-fed sites at the end of the study period compared with measurements at the beginning of the study. (usgs.gov)
  • Specific conductance is a measure of the ability of water to carry an electric current. (texas.gov)
  • Specific conductance at real time surface water quality monitoring stations is measured in micro-Siemens per centimeter (µS/cm). (texas.gov)
  • Specific conductance is often used as a way to indirectly measure the salinity of water. (texas.gov)
  • Runoff from agricultural and mining operations, as well as industrial and wastewater discharge can affect specific conductance. (texas.gov)
  • Raising the external pH in the presence of GABA decreased the GABA-gated peak conductance and increased the fractional desensitization, while lowering the external pH produced opposite effects, and was capable of repriming the conductance from a desensitized state to the non-desensitized state. (ox.ac.uk)
  • Experimental variation of intracellular pH in the range 6.4-8.0 did not affect the GABA-gated conductance. (ox.ac.uk)
  • In contrast to this, the GABA-gated conductance was sensitive to changes in external pH. (ox.ac.uk)
  • The desensitization of the GABA-gated conductance was also affected by external pH. (ox.ac.uk)
  • The above results show that the GABA-gated conductance is sensitive to changes in external pH in the physiological range, and suggest that pH-dependent changes in the postsynaptic efficacy of GABA-mediated inhibition may contribute to H+ modulation of neuronal excitability. (ox.ac.uk)
  • Some of the common inorganic acids are: hydrogen sulfide, phosphoric acid, hydrogen chloride, and sulfuric acid. (silver-colloids.com)
  • The U.S. Geological Survey, in cooperation with the Oregon Department of Transportation (ODOT), evaluated the effects of cold-weather chloride deicers (road deicing chemicals) on groundwater quality, with a focus on chloride, near the Siskiyou Pass in southwestern Oregon. (usgs.gov)
  • The results from this study are intended to help ODOT assess the water-quality effects from the application of chloride deicers at the Siskiyou Pass and inform decisions on how those chemicals are used. (usgs.gov)
  • With chloride unable to exit cells, thick mucus builds up in the lungs and gastrointestinal organs. (nationaljewish.org)
  • EAATs clear glutamate from the synapse, but they also have an intrinsic glutamate-gated chloride conductance. (wustl.edu)
  • Biofilms were grown on stainless steel (SS) or polyvinyl chloride (PVC) coupons in autoclaved municipal drinking water (ATW) for 7 or 28 days. (cdc.gov)
  • Nevertheless, long-term salt treatments did not affect PIP expression in citrus plants, but reduced root hydraulic conductance and transpiration. (gva.es)
  • EAAT5 in particular has very little glutamate reuptake activity, and primarily acts as an inhibitory glutamate-gated chloride channel. (wustl.edu)