CFTR (gene) - Factbites

CFTR (gene) - Factbites
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Topic: CFTR (gene)

Note: these results are not from the primary (high quality) database.

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	Cystic fibrosis transmembrane conductance regulator (CFTR)
		Lambda bacteriophages containing DNA using the CFTR (Cystic Fibrosis Transmembrane Regulator) gene of a strain 129 mouse were isolated, using a mouse CFTR cDNA probe, fr....
		The insertional vector pIV3.5H was designed to disrupt the CFTR gene in exon 10.
		CFTR genomic DNA was cloned from a 129/Ola lambda library (provided by G. Grosveld; G00-100-384).
	www.bioscience.org /knockout/cftr.htm

	CF Gene Mutation: The Test Sample
		When CF gene mutation testing is done, the laboratory specifically examines the CFTR gene on each chromosome 7 for the 25 mutations.
		The CF gene mutation test identifies mutations in the CFTR gene on chromosome 7.
		Cystic fibrosis is caused by a mutation in a pair of genes located on chromosomes 7.
	www.labtestsonline.org /understanding/analytes/cf_gene/sample.html

	IV. Controlled spatiotemporal expression of transgenes: new tools to study normal and pathological states -- Robine et al. 273 (4): 759 -- AJP - Gastrointestinal and Liver Physiology
		Developmental regulation of villin gene expression in the epithelial cell lineages of mouse digestive and urogenital tracts.
		expression of wild-type CFTR in the intestine of cftr null mice.
		A and B: nls-LacZ reporter gene is expressed in epithelial cell nuclei from the bottom of the crypt to the top of the villi of the small intestine (A) and colon (B).
	ajpgi.physiology.org /cgi/content/full/273/4/G759

	Ca2+-activated Cl- channels can substitute for CFTR in stimulation of pancreatic duct bicarbonate secretion -- ZSEMBERY et al. 14 (14): 2345 -- The FASEB Journal
		in the gene that encodes for CFTR, the cystic fibrosis transmembrane
		Gray, M. A., Winpenny, J. P., Porteous, D. J., Dorin, J. R., Argent, B. (1994) CFTR and calcium-activated chloride currents in pancreatic duct cells of a transgenic CF mouse.
		CFTR Cl conductance with NPPB or glibenclamide (48
	www.fasebj.org /cgi/content/full/14/14/2345

	Correction of Aberrant Splicing of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene by Antisense Oligonucleotides -- Friedman et al. 274 (51): 36193 -- Journal of Biological Chemistry
		The CFTR protein generated in oligonucleotide-treated cells co-migrated on the gel with CFTR expressed in C127 cells harboring
		Restoration of Correct CFTR Gene Expression in C127 Cells-- Although expression of aberrant CFTR mRNA and correction of splicing of CFTR pre-mRNA were clearly detectable in 3T3 and CFT1
		The migration of CFTR protein derived from a
	www.jbc.org /cgi/content/full/274/51/36193

	Mutation & Control of Gene Expession
		The nucleotides shown in red are deleted in the cystic fibrosis CFTR gene.
		Gene mutation is a change in one to several bases in the nucleotide sequence of DNA.
		Describe how mutations result in genes different from the most common type and give several examples.
	www.qeced.net /bio/genbio/mutation.htm

	reference
		Identificaiton of a new framshift mutation (3724delG) in exon 19 of the CFTR gene.
		Dijkstra, D.J.W., Scheffer, H., and Buys,C.H.C.M. A novel mutation (G1249R) in exon 20 of the CFTR gene.
		G1244V: a novel missense mutation in exon 20 of the CFTR gene in a Bulgarian cystic fibrosis patient.
	www.genet.sickkids.on.ca /CFMDB-ref.96-1.html

	Comparison of the gating behaviour of human and murine cystic fibrosis transmembrane conductance regulator Cl- channels expressed in mammalian cells -- Lansdell et al. 508 (2): 379 -- The Journal of Physiology Online
		A full-length murine CFTR cDNA that was stable in bacterial cells was only generated when murine intron 11 was also inserted into the construct.
		Single colonies were expanded and those expressing the murine CFTR gene were identified by RT-PCR.
		Assembly of a full-length murine CFTR cDNA and generation of stable cell lines
	jp.physoc.org /cgi/content/full/508/2/379

	Cystic Fibrosis Disease Profile
		caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene.
		For more about the gene that causes cystic fibrosis, see the CFTR Gene Profile.
		Cystic fibrosis (CF) is a chronic, progressive, and frequently fatal genetic (inherited) disease of the body's mucus glands.
	www.ornl.gov /sci/techresources/Human_Genome/posters/chromosome/cf.shtml (997 words)

	Congenital bilateral absence of vas deferens - Genetics Home Reference
		Mutations in the CFTR gene cause congenital bilateral absence of vas deferens.
		The protein made by the CFTR gene forms a channel that controls the movement of salt and water into and out of cells.
		When congenital bilateral absence of vas deferens occurs with CFTR mutations, it is considered to be a form of atypical cystic fibrosis.
	ghr.nlm.nih.gov /ghr/disease/congenitalbilateralabsenceofvasdeferens (856 words)

	BIOSI: Genetics Research Group: Sir Martin Evans FRS, DSc
		Aminoglycoside suppression of a premature stop mutation in a Cftr-/- mouse carrying a human CFTR-G542X transgene.
		BIOSI: Genetics Research Group: Sir Martin Evans FRS, DSc
		Sir Martin Evans is Director of the School of Biosciences and Professor of Mammalian Genetics of Cardiff University.
	www.cf.ac.uk /biosi/research/mammalian/staff/evans.html (856 words)

	Control Systems
		Under normal circumstances, cellular control mechanisms lead to the transcription and translation of the gene for the CFTR protein in pulmonary epithelial cells, and this usually results in the insertion of optimal amounts of a cAMP-regulated chloride channel into the plasma membrane.
		The complete solution to equation (2) is the sum of the particular integral (which depends mainly on the forcing function "M") plus the complementary function, which is the solution of the corresponding homogeneous equation.
		Much eukaryotic gene expression is regulated in this way: if a gene is defective, or the gene dosage is wrong, then the cells do very little to ameliorate the adverse effects.
	www.bmb.leeds.ac.uk /illingworth/control (856 words)

	CFTR Channel
		When a gene (for CFTR) was transferred into chloride-impermeable cells, the ion was forced to move-- the channel’s likeness for chloride decreased if the gene was changed in ways that affected the CFTR protein.
		Cystic fibrosis is caused by mutations in the gene encoding of the CFTR, yet there are multiple lesions within the gene that can cause the disease.
		For the chloride channel to function, it is crucial that two domains of the channel function.
	student.biology.arizona.edu /honors97/group7/cftrpage.html (856 words)

	Cystic Fibrosis Disease Profile
		caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene.
		This means that if both parents are CF carriers, their offspring would only express CF symptoms if they had inherited one defective copy of the CFTR gene from each parent.
		Cystic fibrosis (CF) is a chronic, progressive, and frequently fatal genetic (inherited) disease of the body's mucus glands.
	ornl.gov /sci/techresources/Human_Genome/posters/chromosome/cf.shtml (997 words)

	N°83 Generalised prenatal screening for cystic fibrosis - March 25, 2004
		Prenatal screening for mutations in the CFTR gene is entirely justifiable in cases where there is a family history of cystic fibrosis or if one of the members of the couple is known to be heterozygous.
		On December 19th, 2002, Professor KITZIS from the Poitiers CHU (university teaching hospital) referred to CCNE on the subject of screening mothers at the beginning of the 2nd trimester of pregnancy for the F508del mutation in the CFTR gene.
		Mass screening for certain genetic diseases in the neonatal phase is of great value for the effective prevention of the consequences of those diseases; this is for instance the case for hypothyroidism or phenylketonuria.
	www.ccne-ethique.fr /english/avis/a_083.htm (997 words)

	A novel 3600+11.5 kb C>G homozygous splicing mutation in a black African, consanguineous CF family -- MONNIER et al. 38 (1): 4 -- Journal of Medical Genetics
		Chillon M, Dörk T, Casals T, Gimenez J, Fonknechten N, Will K, Ramos D, Nunes V, Estivill X. A novel donor splice site in intron 11 of the CFTR gene created by mutation 1811+1.6kbA>G produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.
		Carles S, Desgeorges M, Goldman A, Thiard R, Guittard C, Kitazos A, de Ravel T, Westwood A, Ramsay M. First report of CFTR mutations in black cystic fibrosis patients of southern African origin.
		Gasparini P, Dognini M, Bonizzato A, Pignatti P, Morral N, Estivill X. A tetranucleotide repeat polymorphism in the cystic fibrosis gene.
	www.jmedgenet.com /cgi/content/full/38/1/e4 (997 words)

	BioMed Central Full text The "Goldilocks Effect" in Cystic Fibrosis: identification of a lung phenotype in the cftr knockout and heterozygous mouse
		In Norway rats, a single Mendelian gene controls resistance to Warfarin, an anticoagulant used to control rat populations; homozygous wild-type rats are killed by Warfarin and homozygous mutant allele animals are highly susceptible to vitamin K deficiency [ 26 ].
		The "Goldilocks Effect" in Cystic Fibrosis: identification of a lung phenotype in the cftr knockout and heterozygous mouse
		That is, while two defective copies of the gene are detrimental and two normal copies are satisfactory, one normal and one defective gene may results in an optimal dosage for lung development.
	www.biomedcentral.com /1471-2156/5/21 (997 words)

	Cystic Fibrosis: A New Human Lung Cell Model
		Everyone knows that cystic fibrosis produces its most life-threatening problems in the lungs, but no one fully understands how the loss of CFTR, a chloride channel that the CF gene normally produces, causes lung disease.
		The lung cells that are rich in CFTR are called serous cells and are usually located deep within glands that lie beneath the surface of the airways.
		Although still hypothetical, a picture is emerging for a direct role of CFTR chloride channels in lung mucosal defense.
	www.cfri.org /news/94fall/res294f.html (782 words)

	Cardiff University - Cystic Fibrosis Cell Biology
		The Cystic Fibrosis Cell Biology Group is dedicated to an understanding of the role of the CF gene protein (CFTR) in epithelial cell function and to the use of that knowledge in developing a drug therapy for CF patients, aimed at repairing the basic protein defect.
		Becq and his colleagues at the University of Poitiers, to identify new classes of CFTR activating drugs.
		Some that have been discovered are also powerful correcters of the abnormal trafficking of mutant (DF508) CFTR protein in native CF cells.
	www.cf.ac.uk /medicine/medical_biochem/cystic_fibrosis (1007 words)

	ECFS, European Cystic Fibrosis Society Conference: New Frontiers in Basic Science of Cystic Fibrosis
		diseases of the respiratory tract, cystic fibrosis, CF, mucoviscidosis, CFTR structure, modifier genes, gene therapy, CFTR processing, proteomics, host-pathogen interactions, CFTR genomics, pharmacology, novel therapeutic strategies, cell physiology
	www.mediconf.com /recm/22667904.HTM (1007 words)

	Re: What is the purpose of chromosome walking?
		Therefore physical clones were isolated walking across the locus, used for candidate gene discovery, and ultimately lead to identification of the CFTR gene.
		Anyhow, the short answer to your question is that chromosome walking was used to identify the surrounding sequence of a particular "unknown" gene which was known to lie between two markers.
		From physical clones it is possible to identify candidate genes, and thereby identify the precise molecular lesion causing a disease.
	www.madsci.org /posts/archives/1999-12/944514223.Mb.r.html (315 words)

	A Regulatory Element in Intron 1 of the Cystic Fibrosis Transmembrane Conductance Regulator Gene -- Smith et al. 271 (17): 9947 -- Journal of Biological Chemistry
		The cystic fibrosis transmembrane conductance regulator (CFTR) gene exhibits a tightly regulated pattern of expression in human epithelial cells.
		It remains possible that the element that we have identified may be of importance in the expression of CFTR only in specific epithelia such as the intestinal epithelium and male genital duct epithelium.
		The mechanism of this regulation is complex and is likely to involve a number of genetic elements that effect temporal and spatial expression.
	www.jbc.org /cgi/content/full/271/17/9947 (315 words)

	Tissue-specific in vivo transcription start sites of the human and murine cystic fibrosis genes -- White et al. 7 (3): 363 -- Human Molecular Genetics
		These diverse symptoms result from mutation of a single gene, the cystic fibrosis transmembrane conductance regulator or CFTR (2,3), the product of which functions as a cAMP-regulated, low conductance chloride channel (4).
		Cystic fibrosis is a common, autosomal recessive disease characterized by intestinal blockages, exocrine pancreatic insufficiency, male infertility and progressive, degenerative lung disease (1).
		Trezise, A.E.O., Romano, P.R., Gill, D.R., Hyde, S.C., Sepulveda, F.V., Buchwald, M. and Higgins, C.F.) The multidrug resistance and cystic fibrosis genes have complementary patterns of epithelial expression.
	hmg.oupjournals.org /cgi/content/full/7/3/363 (315 words)

	Cystic fibrosis - Genetics Home Reference
		Mutations in the CFTR gene cause cystic fibrosis.
		For example, changes in genes other than CFTR might help explain why some people with cystic fibrosis are more severely affected than others.
		Cystic fibrosis is an inherited disease of the mucus glands that affects many of the body's organs.
	ghr.nlm.nih.gov /condition=cysticfibrosis (732 words)

	Mutations
		Each of these mutations occurs in a huge gene that encodes a protein (of 1480 amino acids) called the cystic fibrosis transmembrane conductance regulator (CFTR).
		Even in coding regions, the existence of synonymous codons may result in the altered (mutated) gene still encoding the same amino acid in the protein.
		Recessive mutations (most of them are) will not be seen except on the rare occasions that both parents contribute a mutation at the same locus to their child.
	users.rcn.com /jkimball.ma.ultranet/BiologyPages/M/Mutations.html (2763 words)

	Mutations
		Each of these mutations occurs in a huge gene that encodes a protein (of 1480 amino acids) called the cystic fibrosis transmembrane conductance regulator (CFTR).
		Even in coding regions, the existence of synonymous codons may result in the altered (mutated) gene still encoding the same amino acid in the protein.
		Recessive mutations (most of them are) will not be seen except on the rare occasions that both parents contribute a mutation at the same locus to their child.
	users.rcn.com /jkimball.ma.ultranet/BiologyPages/M/Mutations.html (2763 words)

	Mutations
		Each of these mutations occurs in a huge gene that encodes a protein (of 1480 amino acids) called the cystic fibrosis transmembrane conductance regulator (CFTR).
		Even in coding regions, the existence of synonymous codons may result in the altered (mutated) gene still encoding the same amino acid in the protein.
		Recessive mutations (most of them are) will not be seen except on the rare occasions that both parents contribute a mutation at the same locus to their child.
	users.rcn.com /jkimball.ma.ultranet/BiologyPages/M/Mutations.html (2763 words)

	TARDBP - TAR DNA-binding protein-43
		Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9.
		Nuclear factor TDP-43 binds to the polymorphic TG repeats in CFTR intron 8 and causes skipping of exon 9: a functional link with disease penetrance.
		These synonyms are used for gene TARDBP (TAR DNA-binding protein-43): TAR DNA binding protein, TDP43, TDP-43.
	www.ihop-net.org /UniPub/iHOP/gg/96846.html (192 words)

	Current Research Focusing on Euchromatin Within the Cell Nucleus.
		Zink D, Amaral MD, Englmann A, Lang S, Clarke LA, Rudolph C, Alt F, Luther K, Braz C, Sadoni N, Rosenecker J, and Schindelhauer D, "Transcription-dependent spatial arrangements of CFTR and adjacent genes in human cell nuclei".
		Milne L, Xu Y, Perrin DM, and Sigman DS, "An Approach to Gene-Specific Transcription Inhibition Using Oligonucleotides Complementary to the Template Strand of the Open Complex".
		Ketting RF, and Plasterk RHA, "A Genetic Link between Co-Suppression and RNA Interference in C. elegans".
	www.euchromatin.net /current1.html (192 words)

	abstracts1997.html
		We have previously screened the cystic fibrosis transmembrane conductance regulator (CFTR) gene and identified new disease-causing mutations.
		Finally, the experimental model described here may be helpful to predict the pulmonary status of CF patients bearing mutations located in putative membrane-spanning domains of the CFTR protein.
		These results point to two different mechanisms underlying the same pancreatic status and suggest that it is unwise to use pancreatic sufficiency and insufficiency to define mild and severe cystic fibrosis (CF) disease, respectively.
	www.necker.fr /u467/abstracts1997.html (1355 words)

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In the News (Sat 26 Dec 09)