Cystic fibrosis transmembrane conductance regulator. Medical search

A chloride channel that regulates secretion in many exocrine tissues. Abnormalities in the CFTR gene have been shown to cause cystic fibrosis. (Hum Genet 1994;93(4):364-8)

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.

Cell membrane glycoproteins that form channels to selectively pass chloride ions. Nonselective blockers include FENAMATES; ETHACRYNIC ACID; and TAMOXIFEN.

Inorganic compounds derived from hydrochloric acid that contain the Cl- ion.

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.

Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.

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.

The movement of ions across energy-transducing cell membranes. Transport can be active, passive or facilitated. Ions may travel by themselves (uniport), or as a group of two or more ions in the same (symport) or opposite (antiport) directions.

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.

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.

The mucous lining of the NASAL CAVITY, including lining of the nostril (vestibule) and the OLFACTORY MUCOSA. Nasal mucosa consists of ciliated cells, GOBLET CELLS, brush cells, small granule cells, basal cells (STEM CELLS) and glands containing both mucous and serous cells.

Inorganic compounds that contain gold as an integral part of the molecule.

Inorganic binary compounds of iodine or the I- ion.

Established cell cultures that have the potential to propagate indefinitely.

An adenine nucleotide containing one phosphate group which is esterified to both the 3'- and 5'-positions of the sugar moiety. It is a second messenger and a key intracellular regulator, functioning as a mediator of activity for a number of hormones, including epinephrine, glucagon, and ACTH.

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.

Benzoic acids, salts, or esters that contain an amino group attached to carbon number 2 or 6 of the benzene ring structure.

Phenols substituted in any position by an amino group.

An adenine nucleotide containing three phosphate groups esterified to the sugar moiety. In addition to its crucial roles in metabolism adenosine triphosphate is a neurotransmitter.

Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.

Negatively charged atoms, radicals or groups of atoms which travel to the anode or positive pole during electrolysis.

A subfamily in the family MURIDAE, comprising the hamsters. Four of the more common genera are Cricetus, CRICETULUS; MESOCRICETUS; and PHODOPUS.

A group of enzymes that are dependent on CYCLIC AMP and catalyze the phosphorylation of SERINE or THREONINE residues on proteins. Included under this category are two cyclic-AMP-dependent protein kinase subtypes, each of which is defined by its subunit composition.

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.

Inorganic salts that contain the -HCO3 radical. They are an important factor in determining the pH of the blood and the concentration of bicarbonate ions is regulated by the kidney. Levels in the blood are an index of the alkali reserve or buffering capacity.

The lipid- and protein-containing, selectively permeable membrane that surrounds the cytoplasm in prokaryotic and eukaryotic cells.

An inhibitor of anion conductance including band 3-mediated anion transport.

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.

A potent cyclic nucleotide phosphodiesterase inhibitor; due to this action, the compound increases cyclic AMP and cyclic GMP in tissue and thereby activates CYCLIC NUCLEOTIDE-REGULATED PROTEIN KINASES

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.

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.

The fluid excreted by the SWEAT GLANDS. It consists of water containing sodium chloride, phosphate, urea, ammonia, and other waste products.

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).

A red fluorescein dye used as a histologic stain. It may be cytotoxic, mutagenic, and inhibit certain mitochondrial functions.

CELL LINE derived from the ovary of the Chinese hamster, Cricetulus griseus (CRICETULUS). The species is a favorite for cytogenetic studies because of its small chromosome number. The cell line has provided model systems for the study of genetic alterations in cultured mammalian cells.

Benzoic acid or benzoic acid esters substituted with one or more nitro groups.

The larger air passages of the lungs arising from the terminal bifurcation of the TRACHEA. They include the largest two primary bronchi which branch out into secondary bronchi, and tertiary bronchi which extend into BRONCHIOLES and PULMONARY ALVEOLI.

The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES.

An antidiabetic sulfonylurea derivative with actions similar to those of chlorpropamide.

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.

The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.

The cartilaginous and membranous tube descending from the larynx and branching into the right and left main bronchi.

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.

Organic salts or esters of methanesulfonic acid.

Sodium channels found on salt-reabsorbing EPITHELIAL CELLS that line the distal NEPHRON; the distal COLON; SALIVARY DUCTS; SWEAT GLANDS; and the LUNG. They are AMILORIDE-sensitive and play a critical role in the control of sodium balance, BLOOD VOLUME, and BLOOD PRESSURE.

Incorporation of biotinyl groups into molecules.

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)

One or more layers of EPITHELIAL CELLS, supported by the basal lamina, which covers the inner or outer surfaces of the body.

Reduced (protonated) form of THIAZOLES. They can be oxidized to THIAZOLIDINEDIONES.

Processes involved in the formation of TERTIARY PROTEIN STRUCTURE.

A plasma membrane exchange glycoprotein transporter that functions in intracellular pH regulation, cell volume regulation, and cellular response to many different hormones and mitogens.

Female germ cells derived from OOGONIA and termed OOCYTES when they enter MEIOSIS. The primary oocytes begin meiosis but are arrested at the diplotene state until OVULATION at PUBERTY to give rise to haploid secondary oocytes or ova (OVUM).

The ability of a substrate to allow the passage of ELECTRONS.

Proteins prepared by recombinant DNA technology.

The study of the generation and behavior of electrical charges in living organisms particularly the nervous system and the effects of electricity on living organisms.

The excretory duct of the testes that carries SPERMATOZOA. It rises from the SCROTUM and joins the SEMINAL VESICLES to form the ejaculatory duct.

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 propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.

Deletion of sequences of nucleic acids from the genetic material of an individual.

The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.

The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.

Either of the pair of organs occupying the cavity of the thorax that effect the aeration of the blood.

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.

Genetically engineered MUTAGENESIS at a specific site in the DNA molecule that introduces a base substitution, or an insertion or deletion.

The process of moving proteins from one cellular compartment (including extracellular) to another by various sorting and transport mechanisms such as gated transport, protein translocation, and vesicular transport.

The commonest and widest ranging species of the clawed "frog" (Xenopus) in Africa. This species is used extensively in research. There is now a significant population in California derived from escaped laboratory animals.

The parts of a macromolecule that directly participate in its specific combination with another molecule.

The rate dynamics in chemical or physical systems.

Ducts that collect PANCREATIC JUICE from the PANCREAS and supply it to the DUODENUM.

Sweat-producing structures that are embedded in the DERMIS. Each gland consists of a single tube, a coiled body, and a superficial duct.

A constitutively expressed subfamily of the HSP70 heat-shock proteins. They preferentially bind and release hydrophobic peptides by an ATP-dependent process and are involved in post-translational PROTEIN TRANSLOCATION.

An aquatic genus of the family, Pipidae, occurring in Africa and distinguished by having black horny claws on three inner hind toes.

Infections with bacteria of the genus PSEUDOMONAS.

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.

Organic salts of cyanic acid containing the -OCN radical.

The introduction of a phosphoryl group into a compound through the formation of an ester bond between the compound and a phosphorus moiety.

A species of gram-negative, aerobic, rod-shaped bacteria commonly isolated from clinical specimens (wound, burn, and urinary tract infections). It is also found widely distributed in soil and water. P. aeruginosa is a major agent of nosocomial infection.

The monomeric units from which DNA or RNA polymers are constructed. They consist of a purine or pyrimidine base, a pentose sugar, and a phosphate group. (From King & Stansfield, A Dictionary of Genetics, 4th ed)

Membrane transporters that co-transport two or more dissimilar molecules in the opposite direction across a membrane. Usually the transport of one ion or molecule is against its electrochemical gradient and is "powered" by the movement of another ion or molecule with its electrochemical gradient.

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).)

A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)

A non-specific host defense mechanism that removes MUCUS and other material from the LUNGS by ciliary and secretory activity of the tracheobronchial submucosal glands. It is measured in vivo as mucus transfer, ciliary beat frequency, and clearance of radioactive tracers.

Glands of external secretion that release its secretions to the body's cavities, organs, or surface, through a duct.

The movement of materials (including biochemical substances and drugs) through a biological system at the cellular level. The transport can be across cell membranes and epithelial layers. It also can occur within intracellular compartments and extracellular compartments.

The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.

Recombinant proteins produced by the GENETIC TRANSLATION of fused genes formed by the combination of NUCLEIC ACID REGULATORY SEQUENCES of one or more genes with the protein coding sequences of one or more genes.

Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury.

A subclass of sodium channel blockers that are specific for EPITHELIAL SODIUM CHANNELS.

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.

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.

A subclass of symporters that specifically transport SODIUM CHLORIDE and/or POTASSIUM CHLORIDE across cellular membranes in a tightly coupled process.

Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.

Cellular uptake of extracellular materials within membrane-limited vacuoles or microvesicles. ENDOSOMES play a central role in endocytosis.

Derivatives of BENZOIC ACID. Included under this heading are a broad variety of acid forms, salts, esters, and amides that contain the carboxybenzene structure.

The level of protein structure in which regular hydrogen-bond interactions within contiguous stretches of polypeptide chain give rise to alpha helices, beta strands (which align to form beta sheets) or other types of coils. This is the first folding level of protein conformation.

The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.

Ion channels that specifically allow the passage of SODIUM ions. A variety of specific sodium channel subtypes are involved in serving specialized functions such as neuronal signaling, CARDIAC MUSCLE contraction, and KIDNEY function.

A family of MEMBRANE TRANSPORT PROTEINS that require ATP hydrolysis for the transport of substrates across membranes. The protein family derives its name from the ATP-binding domain found on the protein.

A genus of the family Muridae consisting of eleven species. C. migratorius, the grey or Armenian hamster, and C. griseus, the Chinese hamster, are the two species used in biomedical research.

The tubular and cavernous organs and structures, by means of which pulmonary ventilation and gas exchange between ambient air and the blood are brought about.

Gated, ion-selective glycoproteins that traverse membranes. The stimulus for ION CHANNEL GATING can be due to a variety of stimuli such as LIGANDS, a TRANSMEMBRANE POTENTIAL DIFFERENCE, mechanical deformation or through INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS.

Orientation of intracellular structures especially with respect to the apical and basolateral domains of the plasma membrane. Polarized cells must direct proteins from the Golgi apparatus to the appropriate domain since tight junctions prevent proteins from diffusing between the two domains.

Inorganic salts of phosphoric acid that contain two phosphate groups.

The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

Family of small, surface-dwelling fish that inhabit fresh and brackish waters, and coastal marine areas.

Synthetic transcripts of a specific DNA molecule or fragment, made by an in vitro transcription system. This cRNA can be labeled with radioactive uracil and then used as a probe. (King & Stansfield, A Dictionary of Genetics, 4th ed)

The viscous secretion of mucous membranes. It contains mucin, white blood cells, water, inorganic salts, and exfoliated cells.

Na-K-Cl transporter ubiquitously expressed. It plays a key role in salt secretion in epithelial cells and cell volume regulation in nonepithelial 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.

An essential aromatic amino acid that is a precursor of MELANIN; DOPAMINE; noradrenalin (NOREPINEPHRINE), and THYROXINE.

Organic derivatives of thiocyanic acid which contain the general formula R-SCN.

Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.

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.

Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.

An individual in which both alleles at a given locus are identical.

Microscopy of specimens stained with fluorescent dye (usually fluorescein isothiocyanate) or of naturally fluorescent materials, which emit light when exposed to ultraviolet or blue light. Immunofluorescence microscopy utilizes antibodies that are labeled with fluorescent dye.

A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.

The process of cleaving a chemical compound by the addition of a molecule of water.

An individual having different alleles at one or more loci regarding a specific character.

A lectin found in ENDOPLASMIC RETICULUM membranes that binds to specific N-linked OLIGOSACCHARIDES found on newly synthesized proteins. It may play role in PROTEIN FOLDING or retention and degradation of misfolded proteins in the endoplasmic reticulum.

The first continuously cultured human malignant CELL LINE, derived from the cervical carcinoma of Henrietta Lacks. These cells are used for VIRUS CULTIVATION and antitumor drug screening assays.

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.

The normality of a solution with respect to HYDROGEN ions; H+. It is related to acidity measurements in most cases by pH = log 1/2[1/(H+)], where (H+) is the hydrogen ion concentration in gram equivalents per liter of solution. (McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)

Lining of the INTESTINES, consisting of an inner EPITHELIUM, a middle LAMINA PROPRIA, and an outer MUSCULARIS MUCOSAE. In the SMALL INTESTINE, the mucosa is characterized by a series of folds and abundance of absorptive cells (ENTEROCYTES) with MICROVILLI.

A thiol-containing non-essential amino acid that is oxidized to form CYSTINE.

The segment of LARGE INTESTINE between the CECUM and the RECTUM. It includes the ASCENDING COLON; the TRANSVERSE COLON; the DESCENDING COLON; and the SIGMOID COLON.

Models used experimentally or theoretically to study molecular shape, electronic properties, or interactions; includes analogous molecules, computer-generated graphics, and mechanical structures.

A cell line generated from human embryonic kidney cells that were transformed with human adenovirus type 5.

The relationship between the dose of an administered drug and the response of the organism to the drug.

Drugs used for their effects on the respiratory system.

Elements of limited time intervals, contributing to particular results or situations.

Proteins produced from GENES that have acquired MUTATIONS.

The inactive proenzyme of trypsin secreted by the pancreas, activated in the duodenum via cleavage by enteropeptidase. (Stedman, 25th ed)

Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female.

The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.

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).

Peptides that regulate the WATER-ELECTROLYTE BALANCE in the body, also known as natriuretic peptide hormones. Several have been sequenced (ATRIAL NATRIURETIC FACTOR; BRAIN NATRIURETIC PEPTIDE; C-TYPE NATRIURETIC PEPTIDE).

Organic or inorganic compounds that contain the -N3 group.

Focal accumulations of EDEMA fluid in the NASAL MUCOSA accompanied by HYPERPLASIA of the associated submucosal connective tissue. Polyps may be NEOPLASMS, foci of INFLAMMATION, degenerative lesions, or malformations.

Paired respiratory organs of fishes and some amphibians that are analogous to lungs. They are richly supplied with blood vessels by which oxygen and carbon dioxide are exchanged directly with the environment.

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.

The relationship between the chemical structure of a compound and its biological or pharmacological activity. Compounds are often classed together because they have structural characteristics in common including shape, size, stereochemical arrangement, and distribution of functional groups.

A sulfamyl diuretic.

Biochemical identification of mutational changes in a nucleotide sequence.

Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.

A quality of cell membranes which permits the passage of solvents and solutes into and out of cells.

Body organ that filters blood for the secretion of URINE and that regulates ion concentrations.

Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.

Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.

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.

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.

Serologic tests in which a positive reaction manifested by visible CHEMICAL PRECIPITATION occurs when a soluble ANTIGEN reacts with its precipitins, i.e., ANTIBODIES that can form a precipitate.

Proteins that cotransport sodium ions and bicarbonate ions across cellular membranes.

The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.

A light microscopic technique in which only a small spot is illuminated and observed at a time. An image is constructed through point-by-point scanning of the field in this manner. Light sources may be conventional or laser, and fluorescence or transmitted observations are possible.

Green dyes containing ammonium and aryl sulfonate moieties that facilitate the visualization of tissues, if given intravenously. They have mostly been used in the study of kidney physiology.

High molecular weight insoluble polymers which contain functional anionic groups that are capable of undergoing exchange reactions with cations.

The chemical or biochemical addition of carbohydrate or glycosyl groups to other chemicals, especially peptides or proteins. Glycosyl transferases are used in this biochemical reaction.

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.

The aggregation of soluble ANTIGENS with ANTIBODIES, alone or with antibody binding factors such as ANTI-ANTIBODIES or STAPHYLOCOCCAL PROTEIN A, into complexes large enough to fall out of solution.

Compounds which inhibit or antagonize the biosynthesis or actions of phosphodiesterases.

Liquid components of living organisms.

Immunologic method used for detecting or quantifying immunoreactive substances. The substance is identified by first immobilizing it by blotting onto a membrane and then tagging it with labeled antibodies.

Transport proteins that carry specific substances in the blood or across cell membranes.

A family of cellular proteins that mediate the correct assembly or disassembly of polypeptides and their associated ligands. Although they take part in the assembly process, molecular chaperones are not components of the final structures.

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).

A member of the alkali group of metals. It has the atomic symbol Na, atomic number 11, and atomic weight 23.

Miscellaneous agents found useful in the symptomatic treatment of diarrhea. They have no effect on the agent(s) that cause diarrhea, but merely alleviate the condition.

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.

An analgesic and anti-inflammatory agent used in the treatment of rheumatoid arthritis.

Uricosuric that acts by increasing uric acid clearance. It is used in the treatment of gout.

Membrane proteins whose primary function is to facilitate the transport of negatively charged molecules (anions) across a biological membrane.

A class of drugs that act by inhibition of sodium influx through cell membranes. Blockade of sodium channels slows the rate and amplitude of initial rapid depolarization, reduces cell excitability, and reduces conduction velocity.

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.

A group of enzymes which catalyze the hydrolysis of ATP. The hydrolysis reaction is usually coupled with another function such as transporting Ca(2+) across a membrane. These enzymes may be dependent on Ca(2+), Mg(2+), anions, H+, or DNA.

Property of membranes and other structures to permit passage of light, heat, gases, liquids, metabolites, and mineral ions.

Nucleotides in which the base moiety is substituted with one or more sulfur atoms.

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.

Human colonic ADENOCARCINOMA cells that are able to express differentiation features characteristic of mature intestinal cells, such as ENTEROCYTES. These cells are valuable in vitro tools for studies related to intestinal cell function and differentiation.

Cell membrane glycoproteins that are selectively permeable to potassium ions. At least eight major groups of K channels exist and they are made up of dozens of different subunits.

Techniques and strategies which include the use of coding sequences and other conventional or radical means to transform or modify cells for the purpose of treating or reversing disease conditions.

Layers of lipid molecules which are two molecules thick. Bilayer systems are frequently studied as models of biological membranes.

Histochemical localization of immunoreactive substances using labeled antibodies as reagents.

Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.

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.

The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.

Phenols substituted with one or more chlorine atoms in any position.

The balance of fluid in the BODY FLUID COMPARTMENTS; total BODY WATER; BLOOD VOLUME; EXTRACELLULAR SPACE; INTRACELLULAR SPACE, maintained by processes in the body that regulate the intake and excretion of WATER and ELECTROLYTES, particularly SODIUM and POTASSIUM.

A non-essential amino acid. It is found primarily in gelatin and silk fibroin and used therapeutically as a nutrient. It is also a fast inhibitory neurotransmitter.

A genus of owlet moths of the family Noctuidae. These insects are used in molecular biology studies during all stages of their life cycle.

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.

Cleavage of proteins into smaller peptides or amino acids either by PROTEASES or non-enzymatically (e.g., Hydrolysis). It does not include Protein Processing, Post-Translational.

An atom or group of atoms that have a positive or negative electric charge due to a gain (negative charge) or loss (positive charge) of one or more electrons. Atoms with a positive charge are known as CATIONS; those with a negative charge are ANIONS.

An enzyme that catalyzes the phosphorylation of AMP to ADP in the presence of ATP or inorganic triphosphate. EC 2.7.4.3.

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)

"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 ...

https://en.wikipedia.org/wiki/PRKG1

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 ...

https://en.wikipedia.org/wiki/Proteopathy

Discovery of the cystic fibrosis trans-membrane conductance regulator gene. The New Zealand Department of Conservation begins ... CS1 maint: discouraged parameter (link) "Identification of the cystic fibrosis gene: chromosome walking and jumping". Science. ...

https://en.wikipedia.org/wiki/1989_in_science

Fischer H, Schwarzer C, Illek B (2004). "Vitamin C controls the cystic fibrosis transmembrane conductance regulator chloride ...

https://en.wikipedia.org/wiki/SLC23A2

"Sequential quality-control checkpoints triage misfolded cystic fibrosis transmembrane conductance regulator". Cell. 126 (3): ...

https://en.wikipedia.org/wiki/RNF5

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 ...

https://en.wikipedia.org/wiki/1980s_in_science_and_technology

"MicroRNA regulation of expression of the cystic fibrosis transmembrane conductance regulator gene". The Biochemical Journal. ...

https://en.wikipedia.org/wiki/Mir-384_microRNA_precursor_family

... 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 ...

https://en.wikipedia.org/wiki/ASIC3

... cells also have large amounts of cystic fibrosis transmembrane conductance regulator. Calu-3 cells are commonly used as ...

https://en.wikipedia.org/wiki/Calu-3

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 ...

https://en.wikipedia.org/wiki/Channel_blocker

... 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 ...

https://en.wikipedia.org/wiki/DNAJC5

Cystic fibrosis transmembrane conductance regulator. ». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۸ اکتبر ۲۰۱۷. ... CFTR با عنوانِ کاملِ «تنظیم‌کنندهٔ هدایت تراغشایی فیبروز سیستیک» (انگلیسی: Cystic fibrosis transmembrane conductance regulator ... CFTR, ABC35, ABCC7, CF, CFTR/MRP, MRP7, TNR-dJ760C5.1, cystic fibrosis transmembrane conductance regulator. ... Cystic Fibrosis Mutation Database. "Genomic DNA sequence".. *↑ Kavic SM, Frehm EJ, Segal AS (1999). "Case studies in cholera: ...

https://fa.wikipedia.org/wiki/CFTR

"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, ...

https://en.wikipedia.org/wiki/Gene_therapy

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 ...

https://en.wikipedia.org/wiki/Jane_Davies_(academic)

"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 ...

https://en.wikipedia.org/wiki/Pyocyanin

... is a medication that acts as cystic fibrosis transmembrane conductance regulator (CFTR) corrector. It is available ... "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 ... is used to treat people with cystic fibrosis who are homozygous for the f508del mutation. This combination was approved for ...

https://en.wikipedia.org/wiki/Elexacaftor

CFTR (cystic fibrosis transmembrane conductance regulator) is a membrane protein and chloride channel in vertebrates. CFTR may ...

https://en.wikipedia.org/wiki/CFTR_(disambiguation)

Cystic fibrosis caused by the G542X mutation in the cystic fibrosis transmembrane conductance regulator gene). SNPs that are ... β-thalassemia and cystic fibrosis). The severity of illness and the way the body responds to treatments are also manifestations ... "Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are ...

https://en.wikipedia.org/wiki/Single-nucleotide_polymorphism

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, ... Cystic fibrosis, is a hereditary disease that affects the entire body, causing progressive disability and early death. ... EPI is found in humans afflicted with cystic fibrosis and Shwachman-Diamond syndrome. It is caused by a progressive loss of the ...

https://en.wikipedia.org/wiki/Pancreatic_disease

"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 ...

https://en.wikipedia.org/wiki/RNA_editing

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. ...

https://en.wikipedia.org/wiki/Hanoch_Senderowitz

"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 ...

https://en.wikipedia.org/wiki/STX8

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 ...

https://en.wikipedia.org/wiki/Chloride_channel_opener

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 ...

https://en.wikipedia.org/wiki/Soluble_adenylyl_cyclase

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- ...

https://en.wikipedia.org/wiki/GOPC

... such as the cystic fibrosis transmembrane conductance regulator (CFTR), and P-glycoprotein by interfering with the host ... "Crystal structure of the cystic fibrosis transmembrane conductance regulator inhibitory factor Cif reveals novel active-site ... Secreted Protein PA2934 Decreases Apical Membrane Expression of the Cystic Fibrosis Transmembrane Conductance Regulator". ... By promoting the ubiquitin-mediated degradation of CFTR, Cif is able to phenocopy cystic fibrosis at the cellular level. The ...

https://en.wikipedia.org/wiki/CFTR_inhibitory_factor

... 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 ...

https://en.wikipedia.org/wiki/VAPA

Uzun, S; Gökçe, S; Wagner, K (2005). "Cystic fibrosis transmembrane conductance regulator gene mutations in infertile males ... "Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials". American Journal of ... Rock, J. R; Futtner, C. R; Harfe, B. D (2008). "The transmembrane protein TMEM16A is required for normal development of the ... Pai, V. P; Aw, S; Shomrat, T; Lemire, J. M; Levin, M (2011). "Transmembrane voltage potential controls embryonic eye patterning ...

https://en.wikipedia.org/wiki/Bioelectricity

... "cystic fibrosis transmembrane conductance regulator"). Tento objav viedol k hypotéze, že nositelia génu pre cystickú fibrózu sú ... Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model. Science, október 1994, roč. 266, ... The genetic advantage hypothesis in cystic fibrosis heterozygotes: a murine study. The Journal of Physiology, január 1995, roč ... Active intestinal chloride secretion in human carriers of cystic fibrosis mutations: an evaluation of the hypothesis that ...

https://sk.wikipedia.org/wiki/Cholera

Cystic fibrosis is an autosomal recessive disorder involving the cystic fibrosis transmembrane conductance regulator (CFTR) ... DescriptionCystic fibrosis.webm. English: What is cystic fibrosis? ... and treatment for cystic fibrosis. Sources: - Cutting, G. Cystic Fibrosis. In: Emery and Rimoin's Principles and Practice of ...

https://en.m.wikipedia.org/wiki/File:Cystic_fibrosis.webm

... specialized cells in the lung called pulmonary ionocytes that express the Cystic Fibrosis Transmembrane Conductance Regulator ...

https://en.wikipedia.org/wiki/Single_cell_sequencing?source=post_page---------------------------

... the genetic deficiency in the cystic fibrosis transmembrane conductance regulator channel proteins interferes with bacteria ... The cystic fibrosis genetic mutation known as delta-F508 in humans has been said to maintain a selective heterozygous advantage ... Bertranpetit J, Calafell F (1996). "Genetic and geographical variability in cystic fibrosis: evolutionary considerations". Ciba ... who are thus not affected by cystic fibrosis) are more resistant to V. cholerae infections.[27] In this model, ...

https://en.wikipedia.org/wiki/Cholera

"Topical cystic fibrosis transmembrane conductance regulator gene replacement for cystic fibrosis-related lung disease 11 (11): ... "Topical cystic fibrosis transmembrane conductance regulator gene replacement for cystic fibrosis-related lung disease". ... cystic fibrosis transmembrane conductance regulator mRNA ameliorates the severity of pulmonary disease in cystic fibrosis". Am ... "An apical PDZ protein anchors the cystic fibrosis transmembrane conductance regulator to the cytoskeleton". J. Biol. Chem. 273 ...

https://ka.wikipedia.org/wiki/კისტური_ფიბროზი

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 ...

https://en.wikipedia.org/wiki/ATP-binding_cassette_transporter

... such as the cystic fibrosis transmembrane conductance regulator (CFTR).[8] Interactions[edit]. Farnesoid X receptor has been ... role for the bifunctional apoptosis regulator protein". The Journal of Biological Chemistry. 277 (6): 4351-60. doi:10.1074/jbc. ... "Farnesoid X receptor: a master regulator of hepatic triglyceride and glucose homeostasis". Acta Pharmacologica Sinica. 36 (1 ...

https://en.wikipedia.org/wiki/Farnesoid_X_receptor

Трансмембранный регулятор муковисцидоза (англ. CFTR - Cystic Fibrosis Transmembrane conductance Regulator) - белок, участвующий ... 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 ... An apical PDZ protein anchors the cystic fibrosis transmembrane conductance regulator to the cytoskeleton (англ.) // Journal of ...

https://ru.wikipedia.org/wiki/Регулятор_трансмембранной_проводимости_при_муковисцидозе

Secretin and VIP act to increase the opening of the cystic fibrosis transmembrane conductance regulator, which leads to more ... cotransporter that acts because of membrane depolarisation caused by the cystic fibrosis transmembrane conductance regulator. ... with other causes including recurrent acute episodes and cystic fibrosis. Abdominal pain, characteristically relieved by ... 1. Bile ducts: 2. Intrahepatic bile ducts, 3. Left and right hepatic ducts, 4. Common hepatic duct, 5. Cystic duct, 6. Common ...

https://en.m.wikipedia.org/wiki/Pancreas

... cystic fibrosis transmembrane conductance regulator) protein, then their children have a 25% of inheriting the disease.[23] If ... Cystic Fibrosis[edit]. Cystic Fibrosis is an autosomal recessive disorder that causes a variety of symptoms and complications, ... "Johns Hopkins Cystic Fibrosis Center. Retrieved 23 September 2018.. *^ a b c d e f Sander JD, Joung JK (April 2014). "CRISPR- ... "Cystic Fibrosis Canada". www.cysticfibrosis.ca. Retrieved 2017-11-30.. *^ O'Sullivan BP, Freedman SD (May 2009). "Cystic ...

https://en.wikipedia.org/wiki/Germline_mutation

Cystic fibrosis (caused by the G542X mutation in the cystic fibrosis transmembrane conductance regulator gene). ... Emily's Entourage, a cystic fibrosis nonprofit researching point-nonsense mutations. External links and references[edit]. *^ ... "Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial" ...

https://en.wikipedia.org/wiki/Nonsense_mutation

CF is caused by a mutation in the gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. In ... Pai VB, Nahata MC (October 2001). "Efficacy and safety of aerosolized tobramycin in cystic fibrosis". Pediatr. Pulmonol. 32 (4 ... 2003). "Gentamicin-Induced Correction of CFTR Function in Patients with Cystic Fibrosis andCFTRStop Mutations". New England ... The aminoglycoside gentamicin has been used to treat cystic fibrosis (CF) cells in the laboratory to induce them to grow full- ...

https://en.m.wikipedia.org/wiki/Aminoglycoside

Cystic fibrosis transmembrane conductance regulator. *Cytochrome c. *DCTN1. *DOK1. *Dysferlin. *ETV6. *EZH2 ...

https://en.wikipedia.org/wiki/File:Ideogram_house_mouse_chromosome_6.svg

... consensus of the NHE-RF-PDZ1 domain matches the C-terminal sequence of cystic fibrosis transmembrane conductance regulator ( ... YAP1 (yes-associated protein 1), also known as YAP or YAP65, is a protein that acts as a transcriptional regulator by ... "Structural basis for the versatile interactions of Smad7 with regulator WW domains in TGF-β Pathways". Structure. 20 (10): ...

https://en.wikipedia.org/wiki/YAP1

These active PKA then phosphorylate the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel proteins, ...

https://en.wikipedia.org/wiki/Cholera_toxin

... acrónimo de Cystic fibrosis transmembrane conductance regulator (regulador de la conductancia transmembrana de la fibrosis ... causada por una proteína anormal CFTR (Cystic fibrosis transmembrane conductance regulator), la cual no permiten el ingreso y ... Hodgkin, A.L.; Huxley, A.F. (1952) The components of membrane conductance in the giant axon of Loligo. (6.9MB) J. of Physiology ... J Grassl Soc South Afr 9(2). Smith, S. E., et a. (2006). Epidermal conductance as a component of dehydration avoidance in ...

https://es.wikipedia.org/wiki/Especial:Search?search=conductance&fulltext=Buscar en texto&ns0=1&ns100=1&ns104=1

Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas ... Childers M, Eckel G, Himmel A, Caldwell J (2007). „A new model of cystic fibrosis pathology: lack of transport of glutathione ... Gadsby DC, Vergani P, Csanády L (2006). „The ABC protein turned chloride channel whose failure causes cystic fibrosis". Nature ... Identification of the cystic fibrosis gene: chromosome walking and jumping". Science. 245 (4922): 1059-65. Bibcode:1989Sci... ...

https://sr.wikipedia.org/wiki/ATP-vezujući_kasetni_transporter

Cystic fibrosis transmembrane conductance regulator）上的突變並不是導致瀰漫性泛細支氣管炎的因素，但是已知這個基因有一種特殊的多態性（變異），它會出現在不少沒有患上這兩種病的亞洲人身上。現時研究正在調查這 ... 鐵釩土纖維化（英语：Bauxite fibrosis）. 鈹肺病（英语：Berylliosis）. 類風濕塵肺綜合症（英语：Caplan's syndrome）. 石末肺（英语：Chalicosis）. 煤礦工人肺塵病（英语

https://zh.wikipedia.org/wiki/瀰漫性泛細支氣管炎

"Cystic fibrosis transmembrane conductance regulator protein repair as a therapeutic strategy in cystic fibrosis". Curr Opin ... drug used to treat cystic fibrosis in people with certain mutations in the cystic fibrosis transmembrane conductance regulator ... cystic fibrosis in people having one of several specific mutations in the cystic fibrosis transmembrane conductance regulator ( ... "Cystic fibrosis transmembrane conductance regulator (CFTR) potentiator VX-770 (ivacaftor) opens the defective channel gate of ...

https://en.m.wikipedia.org/wiki/Ivacaftor

Cystic fibrosis-like syndrome with normal cystic fibrosis transmembrane conductance regulator (CFTR) protein levels 2) ... Thus, loss of the function of CAXII in sweat glands and lungs is the molecular basis for cystic fibrosis patients with normal ... Quinton, PM (December 2010). "Role of epithelial HCO3⁻ transport in mucin secretion: lessons from cystic fibrosis". American ... Ivanov SV, Kuzmin I, Wei MH, Pack S, Geil L, Johnson BE, Stanbridge EJ, Lerman MI (1998). "Down-regulation of transmembrane ...

https://en.wikipedia.org/wiki/CA12

... 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 ...

https://en.wikipedia.org/wiki/Index_of_biochemistry_articles

1998). "The mechanism underlying cystic fibrosis transmembrane conductance regulator transport from the endoplasmic reticulum ...

https://en.wikipedia.org/wiki/Sec61_alpha_1

"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 ...

https://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulator

"Cystic fibrosis transmembrane conductance regulator protein repair as a therapeutic strategy in cystic fibrosis". Curr Opin ... drug used to treat cystic fibrosis in people with certain mutations in the cystic fibrosis transmembrane conductance regulator ... 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) ...

https://en.wikipedia.org/wiki/Ivacaftor

... specialized cells in the lung called pulmonary ionocytes that express the Cystic Fibrosis Transmembrane Conductance Regulator ...

https://en.wikipedia.org/wiki/RNA-Seq

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 ...

https://en.wikipedia.org/wiki/Genetic_heterogeneity

Cystic fibrosis transmembrane conductance regulator (CFTR, also known as ABCC7) is an eukaryotic protein belonging to the ABC-C ... Dysfunction of the CFTR channel causes the life-threatening disease, cystic fibrosis, in which trans-epithelial ion transport ... and a less conserved transmembrane domain (TMD). Eukaryotic ABC proteins are usually organised either as full transporters ( ... Cystic fibrosis transmembrane conductance regulator (IPR009147). Short name: CFTR/ABCC7 Family relationships None. ...

http://www.ebi.ac.uk/interpro/entry/IPR009147

https://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulator

Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive.. Denning GM1, Anderson MP, ... Cystic fibrosis transmembrane conductance regulator (CFTR) is a plasma membrane Cl- channel regulated by cyclic AMP-dependent ... The most common mutation in cystic fibrosis is deletion of phenylalanine at residue 508 (CFTR delta F508) (ref. 10). Studies on ... Mutations in CFTR cause cystic fibrosis partly through loss of cAMP-regulated Cl- permeability from the plasma membrane of ...

https://www.ncbi.nlm.nih.gov/pubmed/1380673?dopt=Abstract

Cystic Fibrosis Transmembrane Conductance Regulator/genetics. *Cystic Fibrosis Transmembrane Conductance Regulator/metabolism* ... The cystic fibrosis transmembrane conductance regulator (CFTR) is the product of the gene mutated in patients with cystic ... Macromolecular complexes of cystic fibrosis transmembrane conductance regulator and its interacting partners.. Li C1, Naren AP. ... Cystic Fibrosis/physiopathology. *Cystic Fibrosis Transmembrane Conductance Regulator/chemistry. * ...

https://www.ncbi.nlm.nih.gov/pubmed/15936089?dopt=Abstract

The cystic fibrosis transmembrane conductance regulator (CFTR) is mutated in CF, and we hypothesized that dysfunctional CFTR in ... Cystic fibrosis (CF) lung disease is characterized by an inflammatory response that can lead to terminal respiratory failure. ... Cystic fibrosis transmembrane conductance regulator dysfunction in platelets drives lung hyperinflammation. Guadalupe Ortiz- ... Cystic fibrosis transmembrane conductance regulator dysfunction in platelets drives lung hyperinflammation. *Text ...

https://www.jci.org/articles/view/129635/pdf

A Missense Cystic Fibrosis Transmembrane Conductance Regulator Mutation With Variable Phenotype. Eitan Kerem, Malka Nissim- ... A Missense Cystic Fibrosis Transmembrane Conductance Regulator Mutation With Variable Phenotype. Eitan Kerem, Malka Nissim- ... A Missense Cystic Fibrosis Transmembrane Conductance Regulator Mutation With Variable Phenotype Message Subject (Your Name) has ... A Missense Cystic Fibrosis Transmembrane Conductance Regulator Mutation With Variable Phenotype. Eitan Kerem, Malka Nissim- ...

https://pediatrics.aappublications.org/content/100/3/e5/tab-e-letters

International biotechnology industry analysis, data and networking focused on translation, research, development, regulation, commercialization, partnering and funding.

https://www.biocentury.com/targets/cystic_fibrosis_transmembrane_conductance_regulator_

Cystic fibrosis transmembrane conductance regulator. A, B, C, D. 286. Mus musculus. Mutation(s): 0 Gene Names: CFTR OR ABCC7, ... Cystic fibrosis transmembrane conductance regulator (CFTR) nucleotide-binding domain one (NBD1) with ATP. *DOI: 10.2210/pdb1R0X ... Cystic fibrosis transmembrane conductance regulator (CFTR) is an ATP-binding cassette (ABC) transporter that functions as a ... Cystic fibrosis transmembrane conductance regulator (CFTR) is an ATP-binding cassette (ABC) transporter that functions as a ...

https://www.rcsb.org/structure/1r0x

A pathogenic role for cystic fibrosis transmembrane conductance regulator in celiac disease. by Valeria R Villella, Andrea ... A pathogenic role for cystic fibrosis transmembrane conductance regulator in celiac disease.. The EMBO journal. (2018-12-01) ... A pathogenic role for cystic fibrosis transmembrane conductance regulator in celiac disease. ... inhibits the function of cystic fibrosis transmembrane conductance regulator (CFTR), an anion channel pivotal for epithelial ...

https://www.sigmaaldrich.com/US/en/tech-docs/paper/1238586

Very recently, acute downregulation of ENaC by the cystic fibrosis transmembrane … ... conductance in parallel with an enhanced amiloride sensitive Na+ conductance (ENaC) of the respiratory epithelium. ... Cystic fibrosis is characterized by an impaired cyclic adenosine 3,5-monophosphate (cAMP) activated Cl- ... Cystic Fibrosis Transmembrane Conductance Regulator / chemistry * Cystic Fibrosis Transmembrane Conductance Regulator / ...

https://pubmed.ncbi.nlm.nih.gov/9009227/

The most common cause of cystic fibrosis is deletion of Phe-508 (delta F508) from the cystic fibrosis transmembrane conductance ... The common variant of cystic fibrosis transmembrane conductance regulator is recognized by hsp70 and degraded in a pre-Golgi ... The common variant of cystic fibrosis transmembrane conductance regulator is recognized by hsp70 and degraded in a pre-Golgi ... The common variant of cystic fibrosis transmembrane conductance regulator is recognized by hsp70 and degraded in a pre-Golgi ...

https://www.pnas.org/content/90/20/9480?ijkey=342d87e056a8da82d9990cac2e37c2a2146219fa&keytype2=tf_ipsecsha

A phenotypic high-throughput screen to identify modulators that improve mutant cystic fibrosis transmembrane conductance ... High-throughput screening Drug Discovery Drug Discovery And Development cystic fibrosis transmembrane conductance regulator ... High-Throughput Screen to Identify Modulators that Improve Mutant Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) ... High-Throughput Screen to Identify Modulators that Improve Mutant Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) ...

https://www.newswise.com/articles/a-phenotypic-high-throughput-screen-to-identify-modulators-that-improve-mutant-cystic-fibrosis-transmembrane-conductance-regulator-

Localization of cystic fibrosis transmembrane conductance regulator mRNA in the human gastrointestinal tract by in situ ... Localization of cystic fibrosis transmembrane conductance regulator mRNA in the human gastrointestinal tract by in situ ... We have used in situ hybridization to localize expression of the cystic fibrosis transmembrane conductance regulator (CFTR) ...

https://www.jci.org/articles/view/116966/scanned-page/354

X. Wang, J. Matteson, Y. An et al., "COPII-dependent export of cystic fibrosis transmembrane conductance regulator from the ER ... "Impact of the ΔF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on ... "Multiple membrane-cytoplasmic domain contacts in the cystic fibrosis transmembrane conductance regulator (CFTR) mediate ... Models of Mutations in the Nucleotide Binding Domain 1 of the Cystic Fibrosis Transmembrane Conductance Regulator. Debra J. ...

https://www.hindawi.com/journals/cbj/2013/938169/ref/

Mutations of the CFTR gene cause cystic fibrosis (CF), the most common recessive monogenic disease worldwide. These mutations ... Cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis: current perspectives Béla Z Schmidt,1 Jérémy ... Cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis: current perspectives. *Abstract ...

https://www.dovepress.com/article_metric.php?article_id=29031

Our aim was to determine whether residual function of the cystic fibrosis transmembrane conductance regulator (CFTR) is present ... Cystic Fibrosis Transmembrane Conductance Regulator / genetics * Cystic Fibrosis Transmembrane Conductance Regulator / ... Cystic fibrosis and survival to 40 years: a study of cystic fibrosis transmembrane conductance regulator function Eur Respir J ... Our aim was to determine whether residual function of the cystic fibrosis transmembrane conductance regulator (CFTR) is present ...

https://pubmed.ncbi.nlm.nih.gov/20847077/?dopt=AbstractPlus

A phenotypic high-throughput screen to identify modulators that improve mutant cystic fibrosis transmembrane conductance ... regulator (CFTR) activity is described in the SLAS Discovery February 2018 front cover feature article by Giuliano and ... High-Throughput Screen to Identify Modulators that Improve Mutant Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) ... High-Throughput Screen to Identify Modulators that Improve Mutant Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) ...

https://www.newswise.com/articles/media-article/687187

Cystic fibrosis transmembrane conductance regulator: solution structures of peptides based on the Phe508 region, the most ... Description: PROTEIN (CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR)) protein , Length: 26 No structure alignment ... CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR: SOLUTION STRUCTURES OF PEPTIDES BASED ON THE PHE508 REGION, THE MOST ...

http://www.rcsb.org/pdb/explore/structureCluster.do?structureId=1CKY

Study of Ivacaftor in Subjects With Cystic Fibrosis (CF) Who Have a Non-G551D CF Transmembrane Conductance Regulator (CFTR) ... who have a non-G551D cystic fibrosis transmembrane regulator (CFTR) gating mutation (any one of the following CFTR mutations: ... Fibrosis. Cystic Fibrosis. Pathologic Processes. Pancreatic Diseases. Digestive System Diseases. Lung Diseases. Respiratory ... The purpose of this study is to evaluate the efficacy and safety of ivacaftor in subjects with cystic fibrosis (CF) ...

https://clinicaltrials.gov/show/NCT01614470

Cystic fibrosis (CF) is caused by mutations in the CF gene, which encodes CF transmembrane conductance regulator protein (CFTR ... Aspirin and Some Other Nonsteroidal Anti-Inflammatory Drugs Inhibit Cystic Fibrosis Transmembrane Conductance Regulator Protein ... a transmembrane protein that acts as a cAMP-regulated chloride channel. The disease is characterized by inflammation but the ...

https://www.hindawi.com/journals/mi/1999/175898/abs/

cystic fibrosis. CFTR. cystic fibrosis transmembrane conductance regulator. Isc. short-circuit current. FBS. fetal bovine serum ... Estrogen Inhibition of Cystic Fibrosis Transmembrane Conductance Regulator-Mediated Chloride Secretion. Ashvani K. Singh, Bruce ... Estrogen Inhibition of Cystic Fibrosis Transmembrane Conductance Regulator-Mediated Chloride Secretion. Ashvani K. Singh, Bruce ... Estrogen Inhibition of Cystic Fibrosis Transmembrane Conductance Regulator-Mediated Chloride Secretion. Ashvani K. Singh, Bruce ...

https://jpet.aspetjournals.org/content/295/1/195

Novel action of the chalcone isoliquiritigenin as a cystic fibrosis transmembrane conductance regulator (CFTR) inhibitor: ... analysis of T84 cell monolayers indicated that ISLQ blocked mainly the cystic fibrosis transmembrane conductance regulator ( ...

https://www.sigmaaldrich.com/catalog/papers/22186622

... which may be associated with endothelial cell expression of the cystic fibrosis transmembrane conductance regulator (CFTR). ... which may be associated with endothelial cell expression of the cystic fibrosis transmembrane conductance regulator (CFTR). ... BackgroundPerturbation of endothelial function in people with cystic fibrosis (CF) has been reported, ... Perturbation of endothelial function in people with cystic fibrosis (CF) has been reported, ...

https://www.frontiersin.org/articles/10.3389/fphys.2020.00879/full

Membrane trafficking of the cystic fibrosis gene product, cystic fibrosis transmembrane conductance regulator, tagged with ... The cystic fibrosis (CF) transmembrane conductance regulator (CFTR) protein is an epithelial cell receptor for the outer core ... Localization of Cystic Fibrosis Transmembrane Conductance Regulator to Lipid Rafts of Epithelial Cells Is Required for ... Cystic fibrosis transmembrane conductance regulator is required for protein kinase A activation of an outwardly rectified anion ...

https://www.jimmunol.org/content/172/1/418?ijkey=84304b0521b247e7bc2b0018f04bd772b4edec12&keytype2=tf_ipsecsha

... the ion transport activity of a cystic fibrosis transmembrane conductance regulator (CFTR) and that is linked to a ... Ma et al., "High-affinity Activators of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Chloride Conductance ... Macromolecular conjugates of cystic fibrosis transmembrane conductance regulator protein inhibitors and uses therefor ... Macromolecular conjugates of cystic fibrosis transmembrane conductance regulator protein inhibitors and uses therefor ...

http://www.patentgenius.com/patent/8552067.html

Pollock, N., Cant, N., Rimington, T., Ford, R. C. Purification of the Cystic Fibrosis Transmembrane Conductance Regulator ... A novel procedure for the efficient purification of the cystic fibrosis transmembrane conductance regulator (CFTR). Biochem J. ... Purification and crystallization of the cystic fibrosis transmembrane conductance regulator (CFTR). J Biol Chem. 279, 39051- ... a novel effective detergent for solubilizing and purifying the cystic fibrosis transmembrane conductance regulator. Anal ...

https://www.jove.com/video/51447/-?language=Hebrew

Deleterious impact of Pseudomonas aeruginosa on cystic fibrosis transmembrane conductance regulator function and rescue in ... Deleterious impact of Pseudomonas aeruginosa on cystic fibrosis transmembrane conductance regulator function and rescue in ... Deleterious impact of Pseudomonas aeruginosa on cystic fibrosis transmembrane conductance regulator function and rescue in ... Deleterious impact of Pseudomonas aeruginosa on cystic fibrosis transmembrane conductance regulator function and rescue in ...

https://erj.ersjournals.com/content/45/6/1590.article-info

Neutrophil elastase degrades cystic fibrosis transmembrane conductance regulator via calpains and disables channel function in ... Loss of cystic fibrosis transmembrane conductance regulator function enhances activation of p38 and ERK MAPKs, increasing ... Impairment of ΔF508 cystic fibrosis transmembrane conductance regulator (ΔF508-CFTR) functional rescue after Pseudomonas ... Inhibition of ΔF508 cystic fibrosis transmembrane conductance regulator (ΔF508-CFTR) functional rescue after Pseudomonas ...

https://erj.ersjournals.com/content/45/6/1590?ctkey=ERJtw076214

... cystic fibrosis transmembrane conductance regulator) in rat was determined. ...

https://pubchem.ncbi.nlm.nih.gov/bioassay/47328

ATP-binding cassette (ABC), cystic fibrosis transmembrane conductance regulator (CFTR), crystallization, membrane protein, ... and nucleotide-bound forms of the cystic fibrosis transmembrane conductance regulator (CFTR) protein N.H. Awayn N.H. Awayn 1 ... Cystic fibrosis, one of the major human inherited diseases, is caused by defects in the CFTR (cystic fibrosis transmembrane ... and nucleotide-bound forms of the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Biochem Soc Trans 26 ...

https://portlandpress.com/biochemsoctrans/article-abstract/33/5/996/65154/Crystallographic-and-single-particle-analyses-of

Developed by Vertex Pharmaceuticals Inc. (VRTX), Trikafta is indicated for patients 12 years and older with cystic fibrosis who have at least one F508del mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. (rttnews.com)
Ivacaftor ( Kalydeco ® ) has been rejected for use in the treatment of children with cystic fibrosis (CF) aged 2 years and older and weighing less than 25kg who have a specified gating mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. (prescriber.org.uk)
Here, we present results of study 661-110 (EXTEND), a 96-week open-label extension study that assessed long-term safety, tolerability, and efficacy of tezacaftor-ivacaftor in participants aged 12 years or older with cystic fibrosis who were homozygous or heterozygous for the Phe508del CFTR mutation. (nebraska.edu)
Participants were aged 12 years or older, had cystic fibrosis, were homozygous or heterozygous for Phe508del CFTR, and completed one of six parent studies of tezacaftor-ivacaftor: studies 661-103, 661-106, 661-107, 661-108, 661-109, and 661-111. (nebraska.edu)
A post-hoc analysis assessed the rate of lung function decline in F/F participants who received up to 120 weeks of tezacaftor-ivacaftor in studies 661-106 (F/F) and/or 661-110 compared with a matched cohort of CFTR modulator-untreated historical F/F controls from the Cystic Fibrosis Foundation Patient Registry. (nebraska.edu)
For the cystic fibrosis component, we screen for 175 cystic fibrosis transmembrane conductance regulator (CFTR) variants and 178 in diagnostic tests. (vcgs.org.au)
Cystic fibrosis occurs when mutations in the CFTR gene hamper the function of the Cystic Fibrosis transmembrane conductance regulator. (netherlandsinnovation.nl)
CF is caused by mutations in the gene CFTR ( cystic fibrosis transmembrane conductance regulator ), which codes for a protein of the same name. (cysticfibrosisnewstoday.com)
Cystic fibrosis is a genetic disease caused by loss-of-function mutations in the cystic fibrosis transmembrane conductance regulator gene, encoding for CFTR protein. (cysticfibrosistreatmentreport.com)
CFTR is required for the migration of primordial germ cells during zebrafish early embryogenesis Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene affect. (embies.com)
CF is caused by loss of function mutations in the cystic fibrosis transmembrane conductance regulator (CFTR), an anion channel highly expressed by the airway epithelium. (enterprisetherapeutics.com)
Increasing anion conductance via CFTR modulation is a clinically validated approach for treating CF, however, it is not currently available or effective for all people with CF. As ENaC inhibition is independent of the mutational status of CFTR, this makes the approach applicable to all people with CF, and potentially patients with non-CF lung disease. (enterprisetherapeutics.com)
ENaC inhibition via ETD001 shows great promise in providing a therapeutic option for the many people with cystic fibrosis who are not genetically suited to or fail to benefit from CFTR modulators. (enterprisetherapeutics.com)
In vivo CRISPR/Cas9-based candidate in development for patients suffering from CF, a rare genetic disease caused by mutations in the CFTR , or cystic fibrosis transmembrane conductance regulator, gene. (crisprtx.com)
The cystic fibrosis transmembrane conductance regulator (CFTR, a gene that is mutated in CF patients) channel secretes bicarbonate, a base, and protons secrete a counterbalancing acid to establish an equilibrium. (cysticfibrosisnewstoday.com)
We describe a fast and unambiguous method for haplotyping the (TG)mTn repeat in IVS8 and determining three other single nucleotide polymorphisms (SNPs) in exons 10, 14a and 24 in the cystic fibrosis transmembrane conductance regulator (CFTR) gene affecting correct splicing of the CFTR pre-mRNA using primer extension and mass spectrometry. (unibe.ch)
The cystic fibrosis transmembrane conductance regulator (CFTR), a key protein that is defective in people with cystic fibrosis, is abundant in the gastrointestinal tract of people and may be a reason why CF patients are troubled by gastrointestinal problems, a recent collaborative study by researchers at Peking University Health Science Center and Shantou University Medical College, in China, reported. (cysticfibrosisnewstoday.com)
It is unclear if the increase in polyps and cancer are directly related to the cystic fibrosis transmembrane conductance regulator (CFTR), a difference in the bacteria in the CF colon, or some other cause. (cfparentsinfohub.com)
Kalydeco is approved as a CF treatment by the U.S. Food and Drug Administration (FDA) for patients ages 2 and older who have at least one mutation in the gene CFTR (standing for cystic fibrosis transmembrane conductance regulator) that is responsive to Kalydeco. (cysticfibrosisnewstoday.com)
INTROL ® CF Panel I Control v.02 is intended for in vitro diagnostic use as a quality control to monitor analytical performance of the extraction, amplification and detection steps of diagnostic assays used in the detection of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene mutations and variants. (maxanim.com)
The INTROL ® CF Panel I Control v.02 is designed to monitor the detection of 38 CFTR mutations associated with cystic fibrosis, including the 23 mutations recommended for testing by American College of Medical Genetics (ACMG) and American College of Obstetricians and Gynecologists (ACOG). (maxanim.com)
Vanda Pharmaceuticals ' announcement in March that it would pay $1 million, and as much as $46 million in potential development, regulatory and sales milestones as well as royalties on net sales should a product be commercializedThe company licensed technology to develop and commercialize a portfolio of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) activators and inhibitors developed in the lab of UCSF's Alan Verkman , MD, PhD, and nurtured by Catalyst. (ucsf.edu)
6. Bobadilla JL, Macek M, Fine JP, Farrell PM (2002) Cystic fibrosis: A worldwide analysis of CFTR mutations - Correlation with incidence data and application to screening. (crossref.org)
Designed for target enrichment of cystic fibrosis transmembrane conductance regulator (CFTR) variants** from each of the 27 exons and select intronic regions, the assay easily generates high-quality NGS-ready barcoded libraries with significantly less hands-on time. (fluidigm.com)
The drugmaker is seeking approval for the drug's use in combination with ivacaftor in patients ages six years and older who have at least one F508del mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. (pharmabox.in)
Since the identification of the Cystic Fibrosis gene in 1989, researchers have known that CF results from mutations in the gene for the protein cystic fibrosis trans-membrane conductance regulator (CFTR). (allcheminfo.com)
CFTR, the gene associated with cystic fibrosis, encodes the protein cystic fibrosis transmembrane, conductance regulator. (dovernewsnow.com)
The underlying cause is a mutation in the CF transmembrane conductance regulator (CFTR) gene, resulting in defective CFTR protein. (imj.ie)
ELX-02 is currently in Phase 2 clinical trials in CF patients affected by nonsense mutations in the CFTR (CF transmembrane conductance regulator) gene. (eloxxpharma.com)
Recently, a fifth treatment arm was added to the program to evaluate the safety of ELX-02 in combination with Kalydeco (ivacaftor), an FDA-approved CFTR potentiator for the treatment of cystic fibrosis in patients who have at least one mutation in their CF gene amenable to ivacaftor. (eloxxpharma.com)
CF is caused by mutations in the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene , which encodes a protein of the same name. (cysticfibrosisnewstoday.com)
Few of the commercially obtainable accepted drug class are CF Transmembrane Conductance Regulator (CFTR) modulators, bronchodilators, mucolytic, anti-infective, antibiotics (oral, inhaled, or parental feeding formulae), anti-inflammatory drugs, and various pancreatic enzyme supplements. (datalibraryresearch.com)
The inherited CF gene directs the body's epithelial cells to produce a defective form of a protein called CFTR (or cystic fibrosis transmembrane conductance regulator) found in cells that form the lining of the lungs, digestive tract, sweat glands, and genitourinary system. (emedical-help.com)

We both have genetic conditions that many people consider serious enough to eliminate from the human gene pool: one of us lives with cystic fibrosis (CF), and the other a form of syndactyly. (crisprinsider.com)
1989) Identification of the Cystic-Fibrosis Gene - Cloning and Characterization of Complementary-Dna. (crossref.org)
1989) Identification of the Cystic-Fibrosis Gene - Chromosome Walking and Jumping. (crossref.org)
Lower left, me, Lap-Chee Tsui, and John Riordan celebrating our discovery of the cystic fibrosis gene. (nih.gov)
It's been more than a quarter-century since my colleagues and I were able to identify the gene responsible for cystic fibrosis (CF), a life-shortening inherited disease that mainly affects the lungs and pancreas [1]. (nih.gov)

On October 21, 2019, the FDA approved Trikafta, which is a combination of elexacaftor/ivacaftor/tezacaftor, the first triple combination therapy for patients with the most common cystic fibrosis mutation. (rttnews.com)
Lumacaftor and ivacaftor ( Orkambi ® ) has been rejected for use in the treatment of cystic fibrosis (CF) in patients aged 12 years and older who are homozygous for the F508del mutation in the CF transmembrane conductance regulator (CFTR) gene. (prescriber.org.uk)
Interpretation: Tezacaftor-ivacaftor was generally safe, well tolerated, and efficacious for up to 120 weeks, and the safety profile of tezacaftor-ivacaftor in study 661-110 was consistent with cystic fibrosis manifestations and with the safety profiles of the parent studies. (nebraska.edu)
Our results support the clinical benefit of long-term tezacaftor-ivacaftor treatment for people aged 12 years or older with cystic fibrosis with F/F or F/RF genotypes. (nebraska.edu)
The Committee for Medicinal Products for Human Use (CHMP) has issued a positive opinion for Kaftrio ( ivacaftor / tezacaftor / elexacaftor ) in combination with Kalydeco (ivacaftor) as a treatment for cystic fibrosis (CF) in people 12 and older who have either two F508del mutations or one F508del mutation and one minimal function mutation in the CFTR gene . (cysticfibrosisnewstoday.com)
In the wake of recent promising clinical results, Vertex Therapeutics announced the submission of a supplemental New Drug Application to the U.S. Food and Drug Administration for the approval of the drug Kalydeco (ivacaftor) for patients with cystic fibrosis who are more than 18 years old and present with the R117H mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. (cysticfibrosisnewstoday.com)
The European Medicines Agency (EMA) and the Medicines and Healthcare products Regulatory Agency (MHRA) have validated Vertex' applications to expand the scope of its cystic fibrosis (CF) treatment Kaftrio (ivacaftor/tezacaftor/elexacaftor). (pharmabox.in)
Some of the drugs used for the treatment of Cystic Fibrosis include Ivacaftor (Kalydeco) manufactured by Vertex Pharmaceuticals. (dovernewsnow.com)
In Ireland, Ivacaftor is reimbursed, on the High-Tech Drug Scheme, for the treatment of cystic fibrosis in patients age 6 years and older who have the G551D mutation. (imj.ie)
The U.S. Food and Drug Administration (FDA) has approved Vertex Pharmaceuticals ' Kalydeco (ivacaftor) as a treatment for infants as young as four months with cystic fibrosis (CF) caused by certain mutations. (cysticfibrosisnewstoday.com)

In January 2012, Kalydeco was approved by the FDA as the first drug that treats the underlying cause of Cystic Fibrosis (CF). Kalydeco represents a major advance in the treatment of Cystic Fibrosis for people with a specific type of this disease. (dovernewsnow.com)
Since the initial approval of Kalydeco more than eight years ago, we have continued to advance our clinical development program with the goal of treating the underlying cause of cystic fibrosis as early in life as possible," said Reshma Kewalramani, MD, Vertex's CEO and president. (cysticfibrosisnewstoday.com)

Enterprise Therapeutics Ltd (Enterprise), a biopharmaceutical company dedicated to the discovery and development of novel therapies to improve the lives of patients suffering from respiratory disease, today announced it has successfully dosed the first subjects in a Phase 1 trial for its novel inhaled cystic fibrosis (CF) therapy, ETD001. (enterprisetherapeutics.com)
University of Iowa researchers appear to have discovered the long-awaited answer as to why mice that carry cystic fibrosis (CF) mutations do not develop the serious lung disease observed in human CF patients. (cysticfibrosisnewstoday.com)
Everyone who is touched by cystic fibrosis (CF) - including patients, families and care teams - is encouraged by the dramatic improvement in survival that has occurred in the past few decades. (cfparentsinfohub.com)
But it's estimated these changes are present in only 4% to 5% of cystic fibrosis patients. (causescience.com)
Survival has increased for patients with cystic fibrosis from late teens to mid-30s because of the many advances in diagnosis and treatment, and in some instances, lung transplantation. (dovernewsnow.com)
WATERTOWN, Mass. , July 06, 2021 (GLOBE NEWSWIRE) -- Eloxx Pharmaceuticals, Inc. (NASDAQ: ELOX) today provided an update on enrollment for the ongoing global Phase 2 clinical program for ELX-02 for the treatment of cystic fibrosis (CF) in patients with at least one G542X allele. (eloxxpharma.com)

An inherited condition, cystic fibrosis results from a deficiency in the performance of an enzyme (the cystic fibrosis transmembrane conductance regulator) responsible for moving chloride into and out of the cells. (causescience.com)

Targeting a genetic defect: cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis. (cfsource.no)

Worldwide survey of the delta F508 mutation--report from the cystic fibrosis genetic analysis consortium. (inellaselement.co.uk)
7. Qu BH, Thomas PJ (1996) Alteration of the cystic fibrosis transmembrane conductance regulator folding pathway - Effects of the Delta F508 mutation on the thermodynamic stability and folding yield of NBD1. (crossref.org)

1. Boucher RC (2004) New concepts of the pathogenesis of cystic fibrosis lung disease. (crossref.org)

biliary epithelial cells bearing defective (delta-f508) cystic fibrosis transmembrane conductance regulator. (inellaselement.co.uk)

Mechanisms of Disease: Cystic Fibrosis. (cfsource.no)
The rate of lung function decline was significantly reduced in F/F participants, consistent with cystic fibrosis disease modification. (nebraska.edu)
The San Diego site is one of Vertex's three research hubs where the company's approved, three disease-modifying cystic fibrosis (CF) medicines were discovered. (cysticfibrosisnewstoday.com)
So you can see why although cystic fibrosis is considered to be just one disease, it can be caused by many different biochemical mechanisms. (causescience.com)
The DelveInsight Cystic fibrosis market report gives a thorough understanding of the Cystic fibrosis by including details such as disease definition, symptoms, causes, pathophysiology, diagnosis and treatment. (dovernewsnow.com)
Initiating therapy that treats the underlying cause of cystic fibrosis as early as four months of age may have the potential to modify the course of the disease," Margaret Rosenfeld, MD, of the University of Washington School of Medicine , said in a Vertex press release . (cysticfibrosisnewstoday.com)

Our researchers in San Diego have spent the last 20 years doing what was once thought impossible - developing the first medicines that treat the underlying cause of cystic fibrosis," said David Altshuler, executive vice president for global research, and the chief scientific officer at Vertex. (cysticfibrosisnewstoday.com)
We are committed to working diligently with global regulators to expand the indication for our medicine such that younger people living with CF will also be able to access the triple combination therapy," said Nia Tatsis, executive VP, chief regulatory and quality officer at Vertex. (pharmabox.in)

The Cystic fibrosis market report provides current treatment practices, emerging drugs, Cystic fibrosis market share of the individual therapies, current and forecasted Cystic fibrosis market Size from 2017 to 2030 segmented by seven major markets. (dovernewsnow.com)

And, at a recent event in New York, I had an opportunity to celebrate how far we've come since then in treating CF, as well as to honor a major force behind that progress, Dr. Bob Beall, who has just retired as president and chief executive officer of the Cystic Fibrosis Foundation. (nih.gov)

ELX-02 is in clinical development focusing on cystic fibrosis. (eloxxpharma.com)

Researchers from Hong Kong, Chengdu, Beijing and Tokyo recently reported a functional link between diabetes and cystic fibrosis. (netherlandsinnovation.nl)

Cystic Fibrosis (CF) affects about 30,000 people in the United States and approximately 70,000 people worldwide. (allcheminfo.com)
Cystic Fibrosis affects the internal organs, especially the lungs and digestive system, by blocking them with thick sticky mucus. (emedical-help.com)
Cystic fibrosis (CF) is a genetic disorder that particularly affects the lungs and digestive system and makes kids who have it more susceptible to recurring lung infections. (emedical-help.com)

All experimental steps required for PEX are amenable to the high degree of automation desirable for a high-throughput diagnostic setting, facilitating the work of clinicians involved in the diagnosis of non-classic cystic fibrosis. (unibe.ch)

Cystic fibrosis (CF) is a genetic condition often characterized by severe pulmonary impairment, but it can also affect organs such as the liver, pancreas, and digestive tract. (cysticfibrosisnewstoday.com)

Ireland has the highest incidence of cystic fibrosis (CF) in the world 1 . (imj.ie)
As per the data published by the Cystic Fibrosis Foundation (CFF), the incidence of such hereditary disorders is continuously growing. (datalibraryresearch.com)

The study, " Airway acidification initiates host defense abnormalities in cystic fibrosis mice , " was published in the journal Science . (cysticfibrosisnewstoday.com)

ETD001 could significantly improve quality of life for people living with cystic fibrosis and other respiratory diseases linked to mucus obstruction. (enterprisetherapeutics.com)

This segment of the report covers the detailed diagnostic methods or tests for Cystic fibrosis. (dovernewsnow.com)

These findings reveal that ET-1 is a negative regulator of OPC differentiation and remyelination and is potentially a novel therapeutic target to promote lesion repair in demyelinated tissue. (morainetownshipdems.org)

Medication developed in 2012 can effectively treat cystic fibrosis in people who have specific genetic changes. (causescience.com)

One example of such an illness is cystic fibrosis , for which there's already a treatment based on genetic factors. (causescience.com)
The Report also covers current Cystic fibrosis treatment practice/algorithm, market drivers, market barriers, and unmet medical needs to curate best of the opportunities and assesses the underlying potential of the market. (dovernewsnow.com)
It covers the details of conventional and current medical therapies available in the Cystic fibrosis market for the treatment of the condition. (dovernewsnow.com)
It also provides Cystic fibrosis treatment algorithms and guidelines in the United States, Europe, and Japan. (dovernewsnow.com)
Growing prevalence of the Cystic Fibrosis (CF) coupled with the increasing treatment rate is one of key factors expected to propel demand for the CF therapeutics over forecast period. (datalibraryresearch.com)

Cystic Fibrosis Foundation website. (cfsource.no)
Right, Robert J. Beall, me, and Doris Tulcin at a November Cystic Fibrosis Foundation event honoring Dr. Beall. (nih.gov)
The program is partially funded by the Cystic Fibrosis Foundation (CFF). (eloxxpharma.com)
Additionally, initiatives taken by the CF Foundation and the Cystic Fibrosis Canada are one of key reasons accounted for the largest share. (datalibraryresearch.com)
The presence of numerous non-profit organizations such as the Cystic Fibrosis Worldwide, Cystic Fibrosis Canada, Cystic Fibrosis Foundation, South African Cystic Fibrosis Trust, and the South African Cystic Fibrosis Association, are steadily involved in activities related to the CF is also one of essential factors accounted for the surging demand. (datalibraryresearch.com)

Problems in this ion channel induces anomalies in fluid transport in cells, ultimately leading to inflammation and fibrosis. (cysticfibrosisnewstoday.com)

In the last 10 years, research into all aspects of Cystic Fibrosis has helped doctors to understand the illness better and to develop new therapies. (emedical-help.com)

Synthesis and biological evaluation of thiazole derivatives on basic defects underlying cystic fibrosis. (cysticfibrosistreatmentreport.com)

DelveInsight's Cystic fibrosis Market Insights, Epidemiology, and Market Forecast-2030 report deliver an in-depth understanding of the Cystic fibrosis, historical and forecasted epidemiology as well as the Cystic fibrosis market trends in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom) and Japan. (dovernewsnow.com)

Findings from the study, " Expression of Cystic Fibrosis Transmembrane Conductance Regulator in Ganglia of Human Gastrointestinal Tract , " were published in the journal Scientific Reports . (cysticfibrosisnewstoday.com)

33) The cystic fibrosis transmembrane conductance regulator is a type of ion channel that has been heavily studied for cystic fibrosis. (carkraze.ca)

Anatomy37

Organisms11

Diseases6

Chemicals and Drugs101

Analytical, Diagnostic and Therapeutic Techniques and Equipment25

Phenomena and Processes55

Disciplines and Occupations2

Technology, Industry, Agriculture1

Information Science3

Health Care1

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)

Cystic fibrosis-associated mutations at arginine 347 alter the pore architecture of CFTR. Evidence for disruption of a salt bridge. (2/2621)

CFTR channel insertion to the apical surface in rat duodenal villus epithelial cells is upregulated by VIP in vivo. (3/2621)

beta3-adrenoceptor control the cystic fibrosis transmembrane conductance regulator through a cAMP/protein kinase A-independent pathway. (4/2621)

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)

Functional dissection of the R domain of cystic fibrosis transmembrane conductance regulator. (6/2621)

Chemokine expression in CF epithelia: implications for the role of CFTR in RANTES expression. (7/2621)

A single conductance pore for chloride ions formed by two cystic fibrosis transmembrane conductance regulator molecules. (8/2621)

Cystic Fibrosis Transmembrane Conductance Regulator

Cystic Fibrosis

Chloride Channels

Chlorides

Mice, Inbred CFTR

Mutation

Epithelial Cells

Ion Transport

Colforsin

Ion Channel Gating

Nasal Mucosa

Gold Compounds

Iodides

Cell Line

Cyclic AMP

Respiratory Mucosa

ortho-Aminobenzoates

Aminophenols

Adenosine Triphosphate

Membrane Proteins

Anions

Cricetinae

Cyclic AMP-Dependent Protein Kinases

Patch-Clamp Techniques

Bicarbonates

Cell Membrane

4,4'-Diisothiocyanostilbene-2,2'-Disulfonic Acid

Molecular Sequence Data

1-Methyl-3-isobutylxanthine

Protein Structure, Tertiary

Chlorine

Sweat

Membrane Potentials

Eosine I Bluish

CHO Cells

Nitrobenzoates

Bronchi

Transfection

Glyburide

Adenylyl Imidodiphosphate

Amino Acid Sequence

Trachea

Genistein

Mesylates

Epithelial Sodium Channels

Biotinylation

Amiloride

Epithelium

Thiazolidines

Protein Folding

Sodium-Hydrogen Antiporter

Oocytes

Electric Conductivity

Recombinant Proteins

Electrophysiology

Vas Deferens

Endoplasmic Reticulum

Cells, Cultured

Sequence Deletion

Base Sequence

Protein Binding

Lung

Chloride-Bicarbonate Antiporters

Mutagenesis, Site-Directed

Protein Transport

Xenopus laevis

Binding Sites

Kinetics

Pancreatic Ducts

Sweat Glands

HSC70 Heat-Shock Proteins

Xenopus

Pseudomonas Infections

RNA, Messenger

Tetramisole

Cyanates

Phosphorylation

Pseudomonas aeruginosa

Nucleotides

Antiporters