Cystic Fibrosis Transmembrane Conductance Regulator
Cystic Fibrosis
An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION.
Chloride Channels
Mice, Inbred CFTR
A strain of mice widely studied as a model for cystic fibrosis. These mice are generated from embryonic stem cells in which the CFTR (cystic fibrosis transmembrane conductance regulator) gene is inactivated by gene targeting. As a result, all mice have one copy of this altered gene in all their tissues. Mice homozygous for the disrupted gene exhibit many features common to young cystic fibrosis patients, including failure to thrive, meconium ileus, and alteration of mucous and serous glands.
Mutation
Epithelial Cells
Cells that line the inner and outer surfaces of the body by forming cellular layers (EPITHELIUM) or masses. Epithelial cells lining the SKIN; the MOUTH; the NOSE; and the ANAL CANAL derive from ectoderm; those lining the RESPIRATORY SYSTEM and the DIGESTIVE SYSTEM derive from endoderm; others (CARDIOVASCULAR SYSTEM and LYMPHATIC SYSTEM) derive from mesoderm. Epithelial cells can be classified mainly by cell shape and function into squamous, glandular and transitional epithelial cells.
Ion Transport
Colforsin
Potent activator of the adenylate cyclase system and the biosynthesis of cyclic AMP. From the plant COLEUS FORSKOHLII. Has antihypertensive, positive inotropic, platelet aggregation inhibitory, and smooth muscle relaxant activities; also lowers intraocular pressure and promotes release of hormones from the pituitary gland.
Ion Channel Gating
The opening and closing of ion channels due to a stimulus. The stimulus can be a change in membrane potential (voltage-gated), drugs or chemical transmitters (ligand-gated), or a mechanical deformation. Gating is thought to involve conformational changes of the ion channel which alters selective permeability.
Nasal Mucosa
Cyclic AMP
Respiratory Mucosa
The mucous membrane lining the RESPIRATORY TRACT, including the NASAL CAVITY; the LARYNX; the TRACHEA; and the BRONCHI tree. The respiratory mucosa consists of various types of epithelial cells ranging from ciliated columnar to simple squamous, mucous GOBLET CELLS, and glands containing both mucous and serous cells.
ortho-Aminobenzoates
Adenosine Triphosphate
Membrane Proteins
Anions
Cricetinae
Cyclic AMP-Dependent Protein Kinases
Patch-Clamp Techniques
An electrophysiologic technique for studying cells, cell membranes, and occasionally isolated organelles. All patch-clamp methods rely on a very high-resistance seal between a micropipette and a membrane; the seal is usually attained by gentle suction. The four most common variants include on-cell patch, inside-out patch, outside-out patch, and whole-cell clamp. Patch-clamp methods are commonly used to voltage clamp, that is control the voltage across the membrane and measure current flow, but current-clamp methods, in which the current is controlled and the voltage is measured, are also used.
Bicarbonates
Cell Membrane
4,4'-Diisothiocyanostilbene-2,2'-Disulfonic Acid
Molecular Sequence Data
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
1-Methyl-3-isobutylxanthine
Protein Structure, Tertiary
The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.
Chlorine
A greenish-yellow, diatomic gas that is a member of the halogen family of elements. It has the atomic symbol Cl, atomic number 17, and atomic weight 70.906. It is a powerful irritant that can cause fatal pulmonary edema. Chlorine is used in manufacturing, as a reagent in synthetic chemistry, for water purification, and in the production of chlorinated lime, which is used in fabric bleaching.
Sweat
Membrane Potentials
The voltage differences across a membrane. For cellular membranes they are computed by subtracting the voltage measured outside the membrane from the voltage measured inside the membrane. They result from differences of inside versus outside concentration of potassium, sodium, chloride, and other ions across cells' or ORGANELLES membranes. For excitable cells, the resting membrane potentials range between -30 and -100 millivolts. Physical, chemical, or electrical stimuli can make a membrane potential more negative (hyperpolarization), or less negative (depolarization).
Eosine I Bluish
CHO Cells
Bronchi
Transfection
Adenylyl Imidodiphosphate
5'-Adenylic acid, monoanhydride with imidodiphosphoric acid. An analog of ATP, in which the oxygen atom bridging the beta to the gamma phosphate is replaced by a nitrogen atom. It is a potent competitive inhibitor of soluble and membrane-bound mitochondrial ATPase and also inhibits ATP-dependent reactions of oxidative phosphorylation.
Amino Acid Sequence
Trachea
Genistein
An isoflavonoid derived from soy products. It inhibits PROTEIN-TYROSINE KINASE and topoisomerase-II (DNA TOPOISOMERASES, TYPE II); activity and is used as an antineoplastic and antitumor agent. Experimentally, it has been shown to induce G2 PHASE arrest in human and murine cell lines and inhibits PROTEIN-TYROSINE KINASE.
Epithelial Sodium Channels
Amiloride
A pyrazine compound inhibiting SODIUM reabsorption through SODIUM CHANNELS in renal EPITHELIAL CELLS. This inhibition creates a negative potential in the luminal membranes of principal cells, located in the distal convoluted tubule and collecting duct. Negative potential reduces secretion of potassium and hydrogen ions. Amiloride is used in conjunction with DIURETICS to spare POTASSIUM loss. (From Gilman et al., Goodman and Gilman's The Pharmacological Basis of Therapeutics, 9th ed, p705)
Epithelium
Sodium-Hydrogen Antiporter
Oocytes
Electrophysiology
Vas Deferens
Endoplasmic Reticulum
A system of cisternae in the CYTOPLASM of many cells. In places the endoplasmic reticulum is continuous with the plasma membrane (CELL MEMBRANE) or outer membrane of the nuclear envelope. If the outer surfaces of the endoplasmic reticulum membranes are coated with ribosomes, the endoplasmic reticulum is said to be rough-surfaced (ENDOPLASMIC RETICULUM, ROUGH); otherwise it is said to be smooth-surfaced (ENDOPLASMIC RETICULUM, SMOOTH). (King & Stansfield, A Dictionary of Genetics, 4th ed)
Cells, Cultured
Base Sequence
Protein Binding
Lung
Chloride-Bicarbonate Antiporters
Electroneutral chloride bicarbonate exchangers that allow the exchange of BICARBONATE IONS exchange for CHLORIDE IONS across the cellular membrane. The action of specific antiporters in this class serve important functions such as allowing the efficient exchange of bicarbonate across red blood cell membranes as they passage through capillaries and the reabsorption of bicarbonate ions by the kidney.
Mutagenesis, Site-Directed
Protein Transport
Xenopus laevis
Binding Sites
Pancreatic Ducts
Sweat Glands
HSC70 Heat-Shock Proteins
Xenopus
RNA, Messenger
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
Phosphorylation
Pseudomonas aeruginosa
Nucleotides
Antiporters
COS Cells
CELL LINES derived from the CV-1 cell line by transformation with a replication origin defective mutant of SV40 VIRUS, which codes for wild type large T antigen (ANTIGENS, POLYOMAVIRUS TRANSFORMING). They are used for transfection and cloning. (The CV-1 cell line was derived from the kidney of an adult male African green monkey (CERCOPITHECUS AETHIOPS).)
Mutation, Missense
Mucociliary Clearance
Exocrine Glands
Biological Transport
Gene Expression
Recombinant Fusion Proteins
Fibrosis
Epithelial Sodium Channel Blockers
Amino Acid Substitution
The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties.
Point Mutation
Sodium-Potassium-Chloride Symporters
Gene Expression Regulation
Endocytosis
Benzoates
Protein Structure, Secondary
Exons
Sodium Channels
ATP-Binding Cassette Transporters
Cricetulus
Respiratory System
Ion Channels
Cell Polarity
Phenotype
Fundulidae
RNA, Complementary
Mucus
Solute Carrier Family 12, Member 2
3T3 Cells
Cell lines whose original growing procedure consisted being transferred (T) every 3 days and plated at 300,000 cells per plate (J Cell Biol 17:299-313, 1963). Lines have been developed using several different strains of mice. Tissues are usually fibroblasts derived from mouse embryos but other types and sources have been developed as well. The 3T3 lines are valuable in vitro host systems for oncogenic virus transformation studies, since 3T3 cells possess a high sensitivity to CONTACT INHIBITION.
Phenylalanine
DNA Primers
Mice, Knockout
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.
Models, Biological
Microscopy, Fluorescence
Reverse Transcriptase Polymerase Chain Reaction
Heterozygote
Calnexin
HeLa Cells
Polymerase Chain Reaction
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
Hydrogen-Ion Concentration
Intestinal Mucosa
Colon
Models, Molecular
HEK293 Cells
Dose-Response Relationship, Drug
Trypsinogen
Urogenital Abnormalities
Sequence Homology, Amino Acid
Protein Conformation
The characteristic 3-dimensional shape of a protein, including the secondary, supersecondary (motifs), tertiary (domains) and quaternary structure of the peptide chain. PROTEIN STRUCTURE, QUATERNARY describes the conformation assumed by multimeric proteins (aggregates of more than one polypeptide chain).
Natriuretic Peptides
Nasal Polyps
Gills
Proteasome Endopeptidase Complex
A large multisubunit complex that plays an important role in the degradation of most of the cytosolic and nuclear proteins in eukaryotic cells. It contains a 700-kDa catalytic sub-complex and two 700-kDa regulatory sub-complexes. The complex digests ubiquitinated proteins and protein activated via ornithine decarboxylase antizyme.
Structure-Activity Relationship
Blotting, Western
Cell Membrane Permeability
Kidney
Mutagenesis
DNA, Complementary
Protein Processing, Post-Translational
Any of various enzymatically catalyzed post-translational modifications of PEPTIDES or PROTEINS in the cell of origin. These modifications include carboxylation; HYDROXYLATION; ACETYLATION; PHOSPHORYLATION; METHYLATION; GLYCOSYLATION; ubiquitination; oxidation; proteolysis; and crosslinking and result in changes in molecular weight and electrophoretic motility.
HSP40 Heat-Shock Proteins
A family of heat-shock proteins that contain a 70 amino-acid consensus sequence known as the J domain. The J domain of HSP40 heat shock proteins interacts with HSP70 HEAT-SHOCK PROTEINS. HSP40 heat-shock proteins play a role in regulating the ADENOSINE TRIPHOSPHATASES activity of HSP70 heat-shock proteins.
Precipitin Tests
Sodium-Bicarbonate Symporters
Genotype
Microscopy, Confocal
Lissamine Green Dyes
Cation Exchange Resins
Glycosylation
Signal Transduction
The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.
Immunoprecipitation
Phosphodiesterase Inhibitors
Immunoblotting
Carrier Proteins
Molecular Chaperones
P-Glycoprotein
A 170-kDa transmembrane glycoprotein from the superfamily of ATP-BINDING CASSETTE TRANSPORTERS. It serves as an ATP-dependent efflux pump for a variety of chemicals, including many ANTINEOPLASTIC AGENTS. Overexpression of this glycoprotein is associated with multidrug resistance (see DRUG RESISTANCE, MULTIPLE).
Sodium
Antidiarrheals
Genetic Vectors
DNA molecules capable of autonomous replication within a host cell and into which other DNA sequences can be inserted and thus amplified. Many are derived from PLASMIDS; BACTERIOPHAGES; or VIRUSES. They are used for transporting foreign genes into recipient cells. Genetic vectors possess a functional replicator site and contain GENETIC MARKERS to facilitate their selective recognition.
Niflumic Acid
Benzbromarone
Anion Transport Proteins
Sodium Channel Blockers
Diffusion Chambers, Culture
Devices used in a technique by which cells or tissues are grown in vitro or, by implantation, in vivo within chambers permeable to diffusion of solutes across the chamber walls. The chambers are used for studies of drug effects, osmotic responses, cytogenic and immunologic phenomena, metabolism, etc., and include tissue cages.
Adenosine Triphosphatases
Permeability
Calcium
A basic element found in nearly all organized tissues. It is a member of the alkaline earth family of metals with the atomic symbol Ca, atomic number 20, and atomic weight 40. Calcium is the most abundant mineral in the body and combines with phosphorus to form calcium phosphate in the bones and teeth. It is essential for the normal functioning of nerves and muscles and plays a role in blood coagulation (as factor IV) and in many enzymatic processes.
Caco-2 Cells
Potassium Channels
Genetic Therapy
Lipid Bilayers
Immunohistochemistry
Alleles
Pancreas
A nodular organ in the ABDOMEN that contains a mixture of ENDOCRINE GLANDS and EXOCRINE GLANDS. The small endocrine portion consists of the ISLETS OF LANGERHANS secreting a number of hormones into the blood stream. The large exocrine portion (EXOCRINE PANCREAS) is a compound acinar gland that secretes several digestive enzymes into the pancreatic ductal system that empties into the DUODENUM.
Cloning, Molecular
Water-Electrolyte Balance
Glycine
Spodoptera
Sequence Alignment
The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.
Proteolysis
Ions
Adenylate Kinase
Cystic fibrosis transmembrane conductance regulator-mediated corneal epithelial cell ingestion of Pseudomonas aeruginosa is a key component in the pathogenesis of experimental murine keratitis. (1/2621)
Previous findings indicate that the cystic fibrosis transmembrane conductance regulator (CFTR) is a ligand for Pseudomonas aeruginosa ingestion into respiratory epithelial cells. In experimental murine keratitis, P. aeruginosa enters corneal epithelial cells. We determined the importance of CFTR-mediated uptake of P. aeruginosa by corneal cells in experimental eye infections. Entry of noncytotoxic (exoU) P. aeruginosa into human and rabbit corneal cell cultures was inhibited with monoclonal antibodies and peptides specific to CFTR amino acids 108 to 117. Immunofluorescence microscopy and flow cytometry demonstrated CFTR in the intact murine corneal epithelium, and electron microscopy showed that CFTR binds to P. aeruginosa following corneal cell ingestion. In experimental murine eye infections, multiple additions of 5 nM CFTR peptide 103-117 to inocula of either cytotoxic (exoU+) or noncytotoxic P. aeruginosa resulted in large reductions in bacteria in the eye and markedly lessened eye pathology. Compared with wild-type C57BL/6 mice, heterozygous DeltaF508 Cftr mice infected with P. aeruginosa had an approximately 10-fold reduction in bacterial levels in the eye and consequent reductions in eye pathology. Homozygous DeltaF508 Cftr mice were nearly completely resistant to P. aeruginosa corneal infection. CFTR-mediated internalization of P. aeruginosa by buried corneal epithelial cells is critical to the pathogenesis of experimental eye infection, while in the lung, P. aeruginosa uptake by surface epithelial cells enhances P. aeruginosa clearance from this tissue. (+info)Cystic fibrosis-associated mutations at arginine 347 alter the pore architecture of CFTR. Evidence for disruption of a salt bridge. (2/2621)
Arginine 347 in the sixth transmembrane domain of cystic fibrosis transmembrane conductance regulator (CFTR) is a site of four cystic fibrosis-associated mutations. To better understand the function of Arg-347 and to learn how mutations at this site disrupt channel activity, we mutated Arg-347 to Asp, Cys, Glu, His, Leu, or Lys and examined single-channel function. Every Arg-347 mutation examined, except R347K, had a destabilizing effect on the pore, causing the channel to flutter between two conductance states. Chloride flow through the larger conductance state was similar to that of wild-type CFTR, suggesting that the residue at position 347 does not interact directly with permeating anions. We hypothesized that Arg-347 stabilizes the channel through an electrostatic interaction with an anionic residue in another transmembrane domain. To test this, we mutated anionic residues (Asp-924, Asp-993, and Glu-1104) to Arg in the context of either R347E or R347D mutations. Interestingly, the D924R mutation complemented R347D, yielding a channel that behaved like wild-type CFTR. These data suggest that Arg-347 plays an important structural role in CFTR, at least in part by forming a salt bridge with Asp-924; cystic fibrosis-associated mutations disrupt this interaction. (+info)CFTR channel insertion to the apical surface in rat duodenal villus epithelial cells is upregulated by VIP in vivo. (3/2621)
cAMP activated insertion of the cystic fibrosis transmembrane conductance regulator (CFTR) channels from endosomes to the apical plasma membrane has been hypothesized to regulate surface expression and CFTR function although the physiologic relevance of this remains unclear. We previously identified a subpopulation of small intestinal villus epithelial cells or CFTR high expressor (CHE) cells possessing very high levels of apical membrane CFTR in association with a prominent subapical vesicular pool of CFTR. We have examined the subcellular redistribution of CFTR in duodenal CHE cells in vivo in response to the cAMP activated secretagogue vasoactive intestinal peptide (VIP). Using anti-CFTR antibodies against the C terminus of rodent CFTR and indirect immunofluorescence, we show by quantitative confocal microscopy that CFTR rapidly redistributes from the cytoplasm to the apical surface upon cAMP stimulation by VIP and returns to the cytoplasm upon removal of VIP stimulation of intracellular cAMP levels. Using ultrastructural and confocal immunofluorescence examination in the presence or absence of cycloheximide, we also show that redistribution was not dependent on new protein synthesis, changes in endocytosis, or rearrangement of the apical cytoskeleton. These observations suggest that physiologic cAMP activated apical membrane insertion and recycling of CFTR channels in normal CFTR expressing epithelia contributes to the in vivo regulation of CFTR mediated anion transport. (+info)beta3-adrenoceptor control the cystic fibrosis transmembrane conductance regulator through a cAMP/protein kinase A-independent pathway. (4/2621)
In human cardiac myocytes, we have previously identified a functional beta3-adrenoceptor in which stimulation reduces action potential duration. Surprisingly, in cardiac biopsies obtained from cystic fibrosis patients, beta3-adrenoceptor agonists produced no effects on action potential duration. This result suggests the involvement of cystic fibrosis transmembrane conductance regulator (CFTR) chloride current in the electrophysiological effects of beta3-adrenoceptor stimulation in non-cystic fibrosis tissues. We therefore investigated the control of CFTR activity by human beta3-adrenoceptors in a recombinant system: A549 human cells were intranuclearly injected with plasmids encoding CFTR and beta3-adrenoceptors. CFTR activity was functionally assayed using the 6-methoxy-N-(3-sulfopropyl)quinolinium fluorescent probe and the patch-clamp technique. Injection of CFTR-cDNA alone led to the expression of a functional CFTR protein activated by cAMP or cGMP. Co-expression of CFTR (but not of mutated DeltaF508-CFTR) with high levels of beta3-adrenoceptor produced an increased halide permeability under base-line conditions that was not further sensitive to cAMP or beta3-adrenoceptor stimulation. Patch-clamp experiments confirmed that CFTR channels were permanently activated in cells co-expressing CFTR and a high level of beta3-adrenoceptor. Permanent CFTR activation was not associated with elevated intracellular cAMP or cGMP levels. When the expression level of beta3-adrenoceptor was lowered, CFTR was not activated under base-line conditions but became sensitive to beta3-adrenoceptor stimulation (isoproterenol plus nadolol, SR 58611, or CGP 12177). This later effect was not prevented by protein kinase A inhibitors. Our results provide molecular evidence that CFTR but not mutated DeltaF508-CFTR is regulated by beta3-adrenoceptors expression through a protein kinase A-independent pathway. (+info)Molecular analysis of the cystic fibrosis gene reveals a high frequency of the intron 8 splice variant 5T in Egyptian males with congenital bilateral absence of the vas deferens. (5/2621)
It has previously been shown that defects in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are largely responsible for the condition of congenital bilateral absence of the vas deferens (CBAVD), without associated renal abnormalities, in Caucasian populations. To assess the involvement of the CFTR in CBAVD in a population with presumed low cystic fibrosis (CF) frequency, we have analysed 20 CBAVD males from Egypt for the presence of 12 common Caucasian CFTR mutations and the intron 8 5T splice variant, IVS-5T, known to be a major cause of CBAVD in Caucasian patients. In 16 of the males without associated renal abnormalities only one deltaF508 carrier was identified, but an exceptionally high frequency of the IVS-5T variant was found (14 of 32 alleles or 43.7%), confirming that this variant is involved in many cases of CBAVD, even in populations where CF is rare. CFTR mutations or the IVS-5T variant were found neither in the remaining four patients with associated renal abnormalities nor in the spouses of the 20 CBAVD patients. However, one patient was homozygous for a leucine to proline substitution at amino acid position 541 (L541P) of the CFTR. It is as yet not clear whether this change is involved in CBAVD in this male. (+info)Functional dissection of the R domain of cystic fibrosis transmembrane conductance regulator. (6/2621)
Exogenously expressed unphosphorylated sub-domains of the R domain block CFTR Cl- channels in the planar lipid bilayer, though the block differs from block with full length R domain. Full length R domain peptide (aa 588-855) blocks CFTR Cl- channels quickly, completely and permanently. Two sub-domains, RD1RD2 (aa 588-805) and RD2TM (aa 672-855), also inhibit CFTR Cl- channels, but the block takes longer to effect and is not complete. Shorter sequences, RD1 (aa 588-746) and RD2 (aa 672-805), fail to effect any block. These data suggest that either the amino-terminal or carboxy-terminal portions of the R domain protein or its stabilized secondary structure are critical to functional regulation. (+info)Chemokine expression in CF epithelia: implications for the role of CFTR in RANTES expression. (7/2621)
To delineate the mechanisms that facilitate leukocyte migration into the cystic fibrosis (CF) lung, expression of chemokines, including interleukin-8 (IL-8), monocyte chemoattractant protein-1 (MCP-1), and RANTES, was compared between CF and non-CF airway epithelia. The findings presented herein demonstrate that, under either basal conditions or tumor necrosis factor-alpha (TNF-alpha)- and/or interferon-gamma (IFN-gamma)-stimulated conditions, a consistent pattern of differences in the secretion of IL-8 and MCP-1 between CF and non-CF epithelial cells was not observed. In contrast, CF epithelial cells expressed no detectable RANTES protein or mRNA under basal conditions or when stimulated with TNF-alpha and/or IFN-gamma (P +info)A single conductance pore for chloride ions formed by two cystic fibrosis transmembrane conductance regulator molecules. (8/2621)
The cystic fibrosis transmembrane conductance regulator (CFTR) is a cAMP-dependent protein kinase (PKA)- and ATP-regulated chloride channel, whose gating process involves intra- or intermolecular interactions among the cytosolic domains of the CFTR protein. Tandem linkage of two CFTR molecules produces a functional chloride channel with properties that are similar to those of the native CFTR channel, including trafficking to the plasma membrane, ATP- and PKA-dependent gating, and a unitary conductance of 8 picosiemens (pS). A heterodimer, consisting of a wild type and a mutant CFTR, also forms an 8-pS chloride channel with mixed gating properties of the wild type and mutant CFTR channels. The data suggest that two CFTR molecules interact together to form a single conductance pore for chloride ions. (+info)
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JCI -
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Structure Cluster
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How CFTR Modulators Changed My Reality | CF Foundation
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Gastrointestinal problems
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What Causes Cystic Fibrosis?
Ingredient | the lung association
Simply the Best? | Circulation Research
Limitations of the murine nose in the development of nonviral airway gene transfer. - Radcliffe Department of Medicine
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Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation...
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Cystic Fibrosis
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Cystic fibrosis transmembrane conductance regulator
"Cystic fibrosis transmembrane conductance regulator and the etiology and pathogenesis of cystic fibrosis". FASEB Journal. 6 (10 ... The Cystic Fibrosis Transmembrane Conductance Regulator Protein The Human Gene Mutation Database - CFTR Records Cystic Fibrosis ... "Relationships between cystic fibrosis transmembrane conductance regulator, extracellular nucleotides and cystic fibrosis". ... "The cystic fibrosis transmembrane conductance regulator: an intriguing protein with pleiotropic functions". Journal of Cystic ...
PRKG1
"Phosphorylation of the cystic fibrosis transmembrane conductance regulator". The Journal of Biological Chemistry. 267 (18): ... "Regulator of G-protein signaling-2 mediates vascular smooth muscle relaxation and blood pressure". Nature Medicine. 9 (12): ... "cGMP-dependent protein kinase I beta physically and functionally interacts with the transcriptional regulator TFII-I". The ...
1989 in science
Discovery of the cystic fibrosis trans-membrane conductance regulator gene. The New Zealand Department of Conservation begins ... "Identification of the cystic fibrosis gene: chromosome walking and jumping". Science. 245 (4922): 1059-1065. doi:10.1126/ ...
Proteinopathy
For example, cystic fibrosis is caused by a defective cystic fibrosis transmembrane conductance regulator (CFTR) protein, and ... Meng X, Clews J, Kargas V, Wang X, Ford RC (January 2017). "The cystic fibrosis transmembrane conductance regulator (CFTR) and ...
SLC23A2
Fischer H, Schwarzer C, Illek B (2004). "Vitamin C controls the cystic fibrosis transmembrane conductance regulator chloride ...
RNF5
"Sequential quality-control checkpoints triage misfolded cystic fibrosis transmembrane conductance regulator". Cell. 126 (3): ...
1980s in science and technology
The gene responsible for the cystic fibrosis transmembrane conductance regulator was discovered. Mutations of the gene are ... considered causes of cystic fibrosis. The kakapo, a bird species of New Zealand, was termed a threatened species. The ...
Mir-384 microRNA precursor family
"MicroRNA regulation of expression of the cystic fibrosis transmembrane conductance regulator gene". The Biochemical Journal. ...
ASIC3
... channel 3 and cystic fibrosis transmembrane conductance regulator". J. Biol. Chem. 281 (48): 36960-8. doi:10.1074/jbc. ... 2 hydrophobic transmembrane (TM) regions, and a large extracellular loop, which has many cysteine residues with conserved ...
Calu-3
... cells also have large amounts of cystic fibrosis transmembrane conductance regulator. Calu-3 cells are commonly used as ...
Icenticaftor
... a Cystic Fibrosis Transmembrane Conductance Regulator Potentiator with Clinical Efficacy in Cystic Fibrosis and Chronic ... March 2021). "Safety and efficacy of the cystic fibrosis transmembrane conductance regulator potentiator icenticaftor (QBW251 ... icenticaftor functions by acting as a stimulator of the protein cystic fibrosis transmembrane conductance regulator (CFTR). ... and cystic fibrosis. The drug is being developed by Novartis. Like ivacaftor (which is marketed as Kalydeco), ...
Channel blocker
Linsdell P, Hanrahan JW (November 1996). "Disulphonic stilbene block of cystic fibrosis transmembrane conductance regulator Cl ... Linsdell P (February 2014). "Cystic fibrosis transmembrane conductance regulator chloride channel blockers: Pharmacological, ... Cystic fibrosis is a progressive, genetic disease that is linked to CF transmembrane regulator (CFTR) dysfunction. Blockage of ... Cystic Fibrosis transmembrane regulators (CFTRs) function in chloride ion, bicarbonate anion, and fluid transport. They are ...
DNAJC5
... has been shown to interact with the cystic fibrosis transmembrane conductance regulator. Mutations in this gene may ... 2006). "Cysteine string protein monitors late steps in cystic fibrosis transmembrane conductance regulator biogenesis". J. Biol ... "Cysteine string protein interacts with and modulates the maturation of the cystic fibrosis transmembrane conductance regulator ... It is known to play a role in cystic fibrosis and Huntington's disease. This protein has been proposed as a key element of the ...
Soluble adenylyl cyclase
CO2 metabolism Enters through membrane-transporting proteins or cystic fibrosis transmembrane conductance regulators. Calcium ... sAC differentiates from the transmembrane adenylyl cyclase (tmACs) - an important source of cAMP; in that sAC is regulated by ... Bone density experiments in mouse calvaria cultured indicates that HCO−3-sensing sAC is a physiological appropriate regulator ... and regulators, reveal a generic Class III AC architecture with sAC-specific features. The structurally related domains C1 and ...
Sodium-hydrogen antiporter 3 regulator 1
... and EZR Cystic fibrosis transmembrane conductance regulator Ezrin Moesin Neutron spin echo Radixin Solute carrier family GRCh38 ... P2Y1 receptor and cystic fibrosis transmembrane conductance regulator determines binding to the Na+/H+ exchanger regulatory ... "The cystic fibrosis transmembrane conductance regulator interacts with and regulates the activity of the HCO3- salvage ... "The PDZ-interacting domain of cystic fibrosis transmembrane conductance regulator is required for functional expression in the ...
Tezacaftor
The First Triple-Combination Cystic Fibrosis Transmembrane Conductance Regulator Modulating Therapy". The Journal of Pediatric ... "Tezacaftor (VX-661) for Cystic Fibrosis". Cystic Fibrosis News Today. Pensacola, FL: BioNews Services, LLC. Ridley, Kaden (2020 ... Tezacaftor is a drug used for the treatment of cystic fibrosis (CF) in people six years and older, who have a F508del mutation ... "FDA expands approval of treatment for cystic fibrosis to include patients ages 6 and older". U.S. Food and Drug Administration ...
Gene therapy
"Topical cystic fibrosis transmembrane conductance regulator gene replacement for cystic fibrosis-related lung disease". The ... 2016 Cochrane systematic review looking at data from four trials on topical cystic fibrosis transmembrane conductance regulator ... This technique has the potential to treat thalassaemia, cystic fibrosis and some cancers. Researchers created liposomes 25 ... Scientists focused on diseases caused by single-gene defects, such as cystic fibrosis, haemophilia, muscular dystrophy, ...
Jane Davies
Davies worked on the development of Cystic fibrosis transmembrane conductance regulator (CFTR) gene therapy. She led the first ... Davies investigates cystic fibrosis. She was involved with a major UK trial of gene therapy for cystic fibrosis. Davies leads ... Emerging Pharmaceutical Treatments for Cystic Fibrosis Lung Disease. Current & Emerging Pharmaceutical Treatments for Cystic ... "Tackling Cystic Fibrosis". felixonline.co.uk. Retrieved 2019-02-26. Bush, Andrew; Alton, Eric W. F. W.; Davies, Jane C. (2007 ...
Pyocyanin
"Regulation of the cystic fibrosis transmembrane conductance regulator ClK channel by its R domain". Journal of Biological ... aeruginosa to persist in the cystic fibrosis lung; it is often detected in the sputum of cystic fibrosis patients. Pyocyanin in ... In the cystic fibrosis lung, intracellular pyocyanin converts molecular oxygen to the superoxide free radical by oxidizing ... Pseudomonas aeruginosa Cystic fibrosis Pyocyanin at Sigma-Aldrich Hassan H, Fridovich I (1980). "Mechanism of the antibiotic ...
Elexacaftor
... is a medication that acts as cystic fibrosis transmembrane conductance regulator (CFTR) corrector. It is available ... The First Triple-Combination Cystic Fibrosis Transmembrane Conductance Regulator Modulating Therapy". The Journal of Pediatric ... "New medicine for cystic fibrosis patients". European Medicines Agency (EMA) (Press release). 26 June 2020. Retrieved 26 June ... "FDA approves new breakthrough therapy for cystic fibrosis". U.S. Food and Drug Administration (FDA) (Press release). October 21 ...
CFTR (disambiguation)
CFTR (cystic fibrosis transmembrane conductance regulator) is a membrane protein and chloride channel in vertebrates. CFTR may ...
Single-nucleotide polymorphism
Cystic fibrosis caused by the G542X mutation in the cystic fibrosis transmembrane conductance regulator gene). SNPs that are ...
Cystic fibrosis
"Topical cystic fibrosis transmembrane conductance regulator gene replacement for cystic fibrosis-related lung disease". The ... cystic fibrosis transmembrane conductance regulator mRNA ameliorates the severity of pulmonary disease in cystic fibrosis". ... Search GeneCards for genes involved in cystic fibrosis Cystic Fibrosis Mutation Database "Cystic Fibrosis". MedlinePlus. U.S. ... CF is caused by a mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR). The most common mutation, ...
Pancreatic disease
It is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The product of this gene ... The name cystic fibrosis refers to the characteristic 'fibrosis' (tissue scarring) and cyst formation within the pancreas, ... EPI is found in humans affected by cystic fibrosis and Shwachman-Diamond syndrome. It is caused by a progressive loss of the ... Cystic fibrosis, is a hereditary disease that affects the entire body, causing progressive disability and early death. ...
RNA editing
"Correction of mutations within the cystic fibrosis transmembrane conductance regulator by site-directed RNA editing". ... in mammalian cell culture by directing an oligonucleotide linked to a cytidine deaminase to correct a mutated cystic fibrosis ...
Channel-conductance-controlling ATPase
Chen M, Zhang JT (1996). "Membrane insertion, processing, and topology of cystic fibrosis transmembrane conductance regulator ( ... In enzymology, a channel-conductance-controlling ATPase (EC 3.6.3.49) is an enzyme that catalyzes the chemical reaction ATP + ... The systematic name of this enzyme class is ATP phosphohydrolase (channel-conductance-controlling). As of late 2007, two ... This enzyme belongs to the family of hydrolases, specifically those acting on acid anhydrides to catalyse transmembrane ...
Hanoch Senderowitz
Cystic fibrosis transmembrane conductance regulator), the main protein implicated in the genetic disease Cystic fibrosis, both ... "The Cystic Fibrosis-causing Mutation ΔF508 Affects Multiple Steps in Cystic Fibrosis Transmembrane Conductance Regulator ... Flexible Fitting Simulations Identify New Models of the Closed State of the Cystic Fibrosis Transmembrane Conductance Regulator ... "The Q359K/T360K mutation causes cystic fibrosis in Georgian Jews". Journal of Cystic Fibrosis. 17 (5): e41-e45. doi:10.1016/j. ...
STX8
"Syntaxin 8 impairs trafficking of cystic fibrosis transmembrane conductance regulator (CFTR) and inhibits its channel activity ... "Elevated expression of a regulator of the G2/M phase of the cell cycle, neuronal CIP-1-associated regulator of cyclin B, in ... McShea A, Samuel T, Eppel JT, Galloway DA, Funk JO (Jul 2000). "Identification of CIP-1-associated regulator of cyclin B (CARB ...
Chloride channel opener
An example is 1,10-phenanthroline, which activates Cystic fibrosis transmembrane conductance regulator (CFTR) chloride channels ... Cuthbert AW (February 2001). "Assessment of CFTR chloride channel openers in intact normal and cystic fibrosis murine epithelia ...
GOPC
2005). "Interaction with cystic fibrosis transmembrane conductance regulator-associated ligand (CAL) inhibits beta1-adrenergic ... Cystic fibrosis transmembrane conductance regulator and CSPG5. GRCh38: Ensembl release 89: ENSG00000047932 - Ensembl, May 2017 ... Cheng J, Wang H, Guggino WB (2004). "Modulation of mature cystic fibrosis transmembrane regulator protein by the PDZ domain ... chloride channel ClC-3B localizes to the Golgi and associates with cystic fibrosis transmembrane conductance regulator- ...
Index of biochemistry articles
... cystic fibrosis transmembrane conductance regulator - cytochrome B - cytochrome C - cytochrome P-450 - cytochrome P-450 CYP1A1 ... transmembrane ATPase - transmembrane helix - transmembrane protein - transmembrane receptor - transport protein - transport ...
Sec61 alpha 1
1998). "The mechanism underlying cystic fibrosis transmembrane conductance regulator transport from the endoplasmic reticulum ...
Ivacaftor
"Cystic fibrosis transmembrane conductance regulator protein repair as a therapeutic strategy in cystic fibrosis". Curr Opin ... used to treat cystic fibrosis in people with certain mutations in the cystic fibrosis transmembrane conductance regulator (CFTR ... cystic fibrosis in people having one of several specific mutations in the cystic fibrosis transmembrane conductance regulator ( ... Eckford PD, Li C, Ramjeesingh M, Bear CE (October 2012). "Cystic fibrosis transmembrane conductance regulator (CFTR) ...
RNA-Seq
... specialized cells in the lung called pulmonary ionocytes that express the Cystic fibrosis transmembrane conductance regulator ... Detection of genome-wide effects: Changes in global regulators including chromatin remodelers, transcription factors (e.g., MYC ...
Aminoglycoside
CF is caused by a mutation in the gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. In ... The aminoglycoside gentamicin has been used to treat cystic fibrosis (CF) cells in the laboratory to induce them to grow full- ... 2003). "Gentamicin-Induced Correction of CFTR Function in Patients with Cystic Fibrosis and CFTR Stop Mutations". New England ... Pai VB, Nahata MC (October 2001). "Efficacy and safety of aerosolized tobramycin in cystic fibrosis". Pediatr. Pulmonol. 32 (4 ...
Michael J. Welsh (biologist)
"Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive". Nature. 358 (6389): 761-764 ... paving the way for cystic fibrosis therapies. In recent years, Welsh has developed animal models of cystic fibrosis, most ... Welsh's research centered on cystic fibrosis, specifically the CFTR protein, an ion channel that allows chloride ions to pass ... Welsh, Michael J.; Smith, Alan E. (1993). "Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis" (PDF ...
Genetic heterogeneity
2,000 cystic fibrosis associated mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator at ... disorder that occurs through a mutation in a single gene that codes for the cystic fibrosis transmembrane conductance regulator ... Bobadilla, Joseph; Macek, Milan; Fine, Jason; Farrell, Phillip (May 3, 2002). "Cystic fibrosis: A worldwide analysis of CFTR ... Drumm, Mitchell; Ziady, Assem; Davis, Pamela (May 21, 2014). "Genetic Variation and Clinical Heterogeneity in Cystic Fibrosis ...
VAPA
... as Receptors That Couple Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Proteostasis with Lipid Homeostasis". The ... Then finally a C-terminal transmembrane domain (TMD) which is usually present in proteins of the t-SNARE superfamily and has ... Ettayebi K, Hardy ME (November 2003). "Norwalk virus nonstructural protein p48 forms a complex with the SNARE regulator VAP-A ...
Chemical chaperone
... is a disease resulting from a failure to maintain the level of cystic fibrosis transmembrane conductance regulator (CFTR), ...
Miglustat
... who have the ΔF508 in both copies of the cystic fibrosis transmembrane conductance regulator (CFTR) gene; the study ended in ... "A randomized placebo-controlled trial of miglustat in cystic fibrosis based on nasal potential difference". Journal of Cystic ... The cystic fibrosis trial showed no effect. Migalastat, a drug for the treatment of Fabry disease, with a similar structure ... In November 2007, Actelion initiated a clinical trial with miglustat in people with cystic fibrosis (CF) ...
SNAP23
... has been shown to interact with: Cystic fibrosis transmembrane conductance regulator, KIF5B, NAPA, SNAPAP, STX11, STX1A ... is an essential component of the high affinity receptor for the general membrane fusion machinery and is an important regulator ...
Cholera
In this model, the genetic deficiency in the cystic fibrosis transmembrane conductance regulator channel proteins interferes ... Bertranpetit, Jaume; Calafell, Francesc (2007). "Genetic and Geographical Variability in Cystic Fibrosis: Evolutionary ... The cystic fibrosis genetic mutation known as delta-F508 in humans has been said to maintain a selective heterozygous advantage ... heterozygous carriers of the mutation (who are not affected by cystic fibrosis) are more resistant to V. cholerae infections. ...
Triple-stranded DNA
... to be delivered by nanoparticles to correct F508 del mutations on the cystic fibrosis transmembrane conductance regulator (CFTR ... In a novel study of cystic fibrosis (CF) gene therapy, three tail-clamp peptide nucleic acids (PNAs) alongside donor DNA ...
STUB1
... inhibits the CHIP ubiquitin ligase and stimulates the maturation of the cystic fibrosis transmembrane conductance regulator". ...
Aggresome
Cystic fibrosis transmembrane conductance regulator (CFTR) is an inefficiently folded integral membrane protein that is ...
PDZK1
... has been shown to interact with: AKAP10, CLCN3, Cystic fibrosis transmembrane conductance regulator FARP2, PDZK1IP1, ... chloride channel ClC-3B localizes to the Golgi and associates with cystic fibrosis transmembrane conductance regulator- ... chloride channel ClC-3B localizes to the Golgi and associates with cystic fibrosis transmembrane conductance regulator- ... Silver DL, Wang N, Vogel S (2003). "Identification of small PDZK1-associated protein, DD96/MAP17, as a regulator of PDZK1 and ...
Biochemical cascade
... cystic fibrosis transmembrane conductance regulator (CFTR), and a final conduit that transport ATP to vascular lumen (pannexin ... In the signal transduction via transmembrane receptors, the first messenger binds to the extracellular domain of transmembrane ... Cadherin is a transmembrane glycoprotein receptor that establishes contact with another cadherin present in the surface of a ... Another example, sonic hedgehog signaling pathway, is one of the key regulators of embryonic development and is present in all ...
ATP-binding cassette transporter
In the cystic fibrosis transmembrane regulator (CFTR) and in the sulfonylurea receptor (SUR), ATP hydrolysis is associated with ... 3.A.1.202 The Cystic Fibrosis Transmembrane Conductance Exporter (CFTR) Family (ABCC) 3.A.1.203 The Peroxysomal Fatty Acyl CoA ... CFTR, the transporter involved in the disease cystic fibrosis, is also considered part of this subfamily. Cystic fibrosis ... Some of these exporters in humans are involved in tumor resistance, cystic fibrosis and a range of other inherited human ...
Hypospermia
This condition can also be caused by the mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene which ...
Jean-Pierre Lecocq
Crystal In vivo Transfer of the Human Cystic Fibrosis Transmembrane Conductance Regulator Gene to Airway Epithelium Cell, 68, ... mechanisms of cystic fibrosis. Between 1970 and 1991 Jean-Pierre Lecocq published 130 papers, 15 additional publications about ...
Farnesoid X receptor
... such as the cystic fibrosis transmembrane conductance regulator (CFTR). Activation of FXR in diabetic mice reduces plasma ... Jiao Y, Lu Y, Li XY (Jan 2015). "Farnesoid X receptor: a master regulator of hepatic triglyceride and glucose homeostasis". ... role for the bifunctional apoptosis regulator protein". The Journal of Biological Chemistry. 277 (6): 4351-60. doi:10.1074/jbc. ...
Johanna Rommens
... which they named cystic fibrosis transmembrane conductance regulator (CFTR). Rommens' work on cystic fibrosis didn't stop after ... Rommens helped identify the gene behind cystic fibrosis, the CFTR gene (short for cystic fibrosis transmembrane conductance ... Markers would only be consistently co-inherited with the gene behind cystic fibrosis if they were close together on the ... "SickKids-led study identifies multiple genes linked to differences in cystic fibrosis". EurekAlert!. Retrieved 2021-01-09. Sun ...
Pancreatitis
... or cystic fibrosis transmembrane conductance regulator. The mnemonic GETSMASHED is often used to remember the common causes of ... such as cystic fibrosis, among others. Smoking increases the risk of both acute and chronic pancreatitis. Diagnosis of acute ...
Browsing by Subject "Cystic Fibrosis Transmembrane Conductance Regulator"
Browsing by Subject "Cystic Fibrosis Transmembrane Conductance Regulator"
Cystic fibrosis transmembrane conductance regulator deficiency exacerbates islet cell dysfunction after beta-cell injury | RTI
... but cystic fibrosis transmembrane conductance regulator (CFTR) mutations contribute directly to multiple aspects of the cystic ... We hypothesized that susceptibility to islet dysfunction in cystic fibrosis is determined by the lack of functional CFTR. To ... The cause of cystic fibrosis-related diabetes (CFRD) remains unknown, ... The cause of cystic fibrosis-related diabetes (CFRD) remains unknown, but cystic fibrosis transmembrane conductance regulator ( ...
Vardenafil increases intracellular accumulation of the most prevalent mutant cystic fibrosis transmembrane conductance...
The cystic fibrosis-causing mutation deltaF508 affects multiple steps in cystic fibrosis transmembrane conductance regulator ... Constitutive internalization of cystic fibrosis transmembrane conductance regulator occurs via clathrin-dependent endocytosis ... The delta F508 mutation decreases the stability of cystic fibrosis transmembrane conductance regulator in the plasma membrane. ... Membrane targeting of cGMP-dependent protein kinase is required for cystic fibrosis transmembrane conductance regulator Cl- ...
CFTR - 'Effect of internal F- on activation of Cystic Fibrosis Transmembrane Conductance (CFTR) regulator by forskolin'
Detection of cystic fibrosis transmembrane conductance regulator activity in early-phase clinical trials
... Academic Article ... early-phase clinical trials require extension of in vivo cystic fibrosis transmembrane conductance regulator (CFTR)-detecting ... Advances in our understanding of cystic fibrosis pathogenesis have led to strategies directed toward treatment of underlying ... are presented to advance our understanding of these biomarkers and to improve their capacity to predict cystic fibrosis ...
Urine bicarbonate excretion associated with cystic fibrosis transmembrane conductance regulator function | 2 Minute Medicine
... carbonate excretion levels in cystic fibrosis (CF) patients were correlated with various disease severity markers. 2. At six ... Urine bicarbonate excretion associated with cystic fibrosis transmembrane conductance regulator function. byAndrew LeeandKiera ... Study Rundown: CF is a genetic condition caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) ... Tags: bicarbonateCFTRchronic diseasecystic fibrosiselexacaftorivacaftornephrologypulmonologytexacaftorurine bicarbonate ...
Mutations of Cystic Fibrosis Transmembrane Conductance Regulator Gene Cause a Monocyte-Selective Adhesion Deficiency.
Cystic fibrosis (CF) is a common genetic disease caused by mutations of the cystic fibrosis transmembrane conductance regulator ... Cystic fibrosis (CF) is a common genetic disease caused by mutations of the cystic fibrosis transmembrane conductance regulator ... Mutations of Cystic Fibrosis Transmembrane Conductance Regulator Gene Cause a Monocyte-Selective Adhesion Deficiency.. SORIO, ... Mutations of Cystic Fibrosis Transmembrane Conductance Regulator Gene Cause a Monocyte-Selective Adhesion Deficiency.pdf non ...
Mol - CFTR cystic fibrosis transmembrane conductance regulator
Mol. to DF-1 cells, faulty virulence capability and (APEC), including Tsh (temperature-sensitive hemagglutinin), Vat (vacuolating autotransporter toxin), and AatA (APEC autotransporter adhesin), had been Moxifloxacin HCl found to try out jobs in APEC pathogenicity (22C26). The YadA adhesin from may be the best-characterized TAA proteins and mediates adherence and serum level of resistance (27, 28). TAAs Hia and Hsf had been determined in and mediate adherence to web host cells (29, 30). TAAs consist of NadA, which mediates the invasion of epithelial cells, and NhhA, which mediates adhesion to individual epithelial cells and ECM elements (11, 31). Saa is certainly a TAA adhesin mixed up in adherence and aggregation of Shiga toxin-producing (STEC) (32). A fresh person in the TAA family members, UpaG, continues to be determined in uropathogenic (UPEC) and promotes mobile aggregation and biofilm development in stress CFT073 (33). SadA, a TAA from serovar Typhimurium, promotes biofilm development and ...
ERp29 regulates ΔF508 and wild-type cystic fibrosis transmembrane conductance regulator (CFTR) trafficking to the plasma...
Dive into the research topics of ERp29 regulates ΔF508 and wild-type cystic fibrosis transmembrane conductance regulator (CFTR ... T1 - ERp29 regulates ΔF508 and wild-type cystic fibrosis transmembrane conductance regulator (CFTR) trafficking to the plasma ... ERp29 regulates ΔF508 and wild-type cystic fibrosis transmembrane conductance regulator (CFTR) trafficking to the plasma ... ERp29 regulates ΔF508 and wild-type cystic fibrosis transmembrane conductance regulator (CFTR) trafficking to the plasma ...
Newborn Screening for Cystic Fibrosis Evaluation of Benefits and Risks and Recommendations for State Newborn Screening Programs
CFTR Cystic fibrosis transmembrane conductance regulator protein QWB quality of well-being; instrument used to measure HRQoL. ... Molecular consequences of Cystic Fibrosis Transmembrane Regulator (CFTR) gene mutations in the exocrine pancreas. Gut 2003;52: ... CFF Cystic Fibrosis Foundation PKU phenylketonuria. CFNPR Cystic Fibrosis Foundation National Patient Registry. positive ... Bethesda, MD: Cystic Fibrosis Foundation, 2001. *FitzSimmons SC. The changing epidemiology of cystic fibrosis. J Pediatr 1993; ...
CFTR gene: MedlinePlus Genetics
The CFTR gene provides instructions for making a protein called the cystic fibrosis transmembrane conductance regulator. Learn ... The cystic fibrosis transmembrane conductance regulator: an intriguing protein with pleiotropic functions. J Cyst Fibros. 2002 ... cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) ... cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) ...
Cystic fibrosis transmembrane conductance regulator modulators attenuate platelet activation and aggregation in blood of...
A small molecule that induces translational readthrough of CFTR nonsense mutations by eRF1 depletion | Nature Communications
... readthrough activity and show that these reduce eRF1 levels to suppress premature termination associated with cystic fibrosis. ... induce a prolonged pause at stop codons and suppress PTCs associated with cystic fibrosis in immortalized and primary human ... improvements in cystic fibrosis transmembrane conductance regulator by nasal aminoglycosides in patients with cystic fibrosis ... Over 2000 variants of the cystic fibrosis transmembrane conductance regulator (CFTR) gene are known2,3,4; 350 of which are ...
Cystic fibrosis transmembrane conductance regulator: Nucleotide binding to a synthetic peptide - Fingerprint - University...
Elexacaftor-Tezacaftor-Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele
Elexacaftor-tezacaftor-ivacaftor was efficacious in patients with cystic fibrosis with Phe508del-minimal function genotypes, in ... Background: Cystic fibrosis is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator ... Cystic Fibrosis / genetics * Cystic Fibrosis / physiopathology * Cystic Fibrosis Transmembrane Conductance Regulator / genetics ... Elexacaftor-Tezacaftor-Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele N Engl J Med. 2019 Nov 7;381(19):1809-1819. ...
Topical cystic fibrosis transmembrane conductance regulator gene replacement for cystic fibrosis‐related lung disease Edited ...
Topical cystic fibrosis transmembrane conductance regulator gene replacement for cystic fibrosis‐related lung disease Edited ( ... Topical cystic fibrosis transmembrane conductance regulator gene replacement for cystic fibrosis‐related lung disease Edited ( ... Topical cystic fibrosis transmembrane conductance regulator gene replacement for cystic fibrosis‐related lung disease Edited ( ... "Topical Cystic Fibrosis Transmembrane Conductance Regulator Gene Replacement for Cystic Fibrosis‐related Lung Disease Edited ( ...
Asset 2
CFTR Modulator Medications | OSF Children's Hospital
Table of Contents page: Journal of Biological Chemistry
Lumacaftor and Ivacaftor use while Breastfeeding | Drugs.com
Cystic Fibrosis Transmembrane Conductance Regulator Protein Modulator. CFTR Protein Modulator. Disclaimer: Information ... Although the infant had cystic fibrosis-causing CFTR mutations, the infant was healthy and tested negative for cystic fibrosis ... A woman with cystic fibrosis was treated with lumacaftor and ivacaftor during pregnancy and postpartum. Her infant was fully ... CFTR modulators: Impact on fertility, pregnancy, and lactation in women with cystic fibrosis. J Clin Med. 2020;9:2706. [PMC ...
Búsqueda de la mutación delta F508 y análisis de dos polimorfismos de nucleótido único en el gen CFTR, en una muestra de...
Palabras clave : Cystic fibrosis; Cystic fibrosis transmembrane conductance regulator; Delta F508-CFTR protein. ... CF is caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. Delta F508 mutation is the ... Background: The Cystic Fibrosis (CF) carrier rate in Chile was estimated to be 1/40. ...
Lumacaftor and Ivacaftor: MedlinePlus Drug Information
Ivacaftor is in a class of medications called cystic fibrosis transmembrane conductance regulator (CFTR) potentiators. Both of ... Lumacaftor is in a class of medications called cystic fibrosis transmembrane conductance regulator (CFTR) correctors. ... Lumacaftor and ivacaftor controls cystic fibrosis but does not cure it. Continue to take lumacaftor and ivacaftor even if you ... Lumacaftor and ivacaftor is used to treat certain types of cystic fibrosis (an inborn disease that causes problems with ...
Cystic Fibrosis Treatment & Management: Approach Considerations, Diet and Exercise, Surgical Management of Complications
Cystic fibrosis is an autosomal recessive disorder, and most carriers of the gene are asymptomatic. ... Cystic fibrosis (CF) is the most common lethal inherited disease in white persons. ... The cystic fibrosis transmembrane conductance regulator (CFTR), ivacaftor (Kalydeco), was approved by the FDA in January 2012. ... Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance ...
Faculty | Pediatrics
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Challenges and opportunities of drug repositioning: Trends in Pharmacological Sciences
Search | Page 2 | The Embryo Project Encyclopedia
Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene. The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR ... Cystic Fibrosis. Cystic fibrosis (CF) is a fatal, inherited disease found in humans and characterized by buildup of thick, ... Cystic fibrosis is most prevalent in Caucasian individuals, and approximately 1 in every 29 individuals in the US is a carrier ... gene was identified in 1989 by geneticist Lap-Chee Tsui and his research team as the gene associated with cystic fibrosis (CF ...
Research Labs and Institutes | Johns Hopkins Medicine
Research in the Liudmila Cebotaru Lab studies cystic fibrosis transmembrane conductance regulat...or (CFTR) mutants. We also ... Research Areas: cell biology, cystic fibrosis, kidney diseases, gene therapy, corrector molecules ... is on developing more efficient gene therapy vectors with the ultimate goal of developing a gene therapy for cystic fibrosis. ...
Chloride channel
Cystic fibrosis transmembrane conductance regulator References. * *^ Suzuki M., Morita T. and Iwamoto, T. (2006) Diversity of ... This family of ion channels contains 10 or 12 transmembrane helices. Each protein forms a single pore. It has been shown that ... Chloride channel subunits contain between 1 and 12 transmembrane segments. Some members of this family are activated by voltage ... Cystic fibrosis transmembrane conductance regulator. Porin. Aquaporin (1, 2, 3, 4) • Voltage-dependent anion channel (1). ...