Clinical feature: 

Definition: This large group of familial broncho-pulmonary disorders includes disturbances of cell metabolism and membrane function as well as dysfunctions of the muscular and nervous systems.

Literature: 

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Chu CS et al. (1991) Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium.
Clain J et al. (2005) Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype.
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Cutting GR et al. (1990) A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.
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Dean M et al. (1990) Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients.
Dean M et al. (1992) A 22-bp deletion in the coding region of the cystic fibrosis gene.
De Braekeleer M et al. (1991) Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada).
Delaney SJ et al. (1996) Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations.
de Meeus A et al. (1998) Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD.
Denning GM et al. (1992) Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive.
Derichs N et al. (2005) Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this cystic fibrosis transmembrane conductance regulator mutation does not cause cystic fibrosis.
De Rose V et al. (2005) Fcgamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis.
Devor DC et al. (1998) Ibuprofen inhibits cystic fibrosis transmembrane conductance regulator-mediated Cl- secretion.
Devoto M et al. (1991) Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy.
de Vries HG et al. (1997) Prevalence of delta F508 cystic fibrosis carriers in The Netherlands: logistic regression on sex, age, region of residence and number of offspring.
Di A et al. (2006) CFTR regulates phagosome acidification in macrophages and alters bactericidal activity.
Dickinson P et al. (2002) The severe G480C cystic fibrosis mutation, when replicated in the mouse, demonstrates mistrafficking, normal survival and organ-specific bioelectrics.
Dorin JR et al. (1992) Cystic fibrosis in the mouse by targeted insertional mutagenesis.
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Dörk T et al. (1991) Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene.
Dörk T et al. (1991) Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene.
Dorval I et al. (1993) Analysis of 160 CF chromosomes: detection of a novel mutation in exon 20.
Dumur V et al. (1996) Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): correlation between genotype and phenotype.
Dumur V et al. (1990) Abnormal distribution of cystic fibrosis delta F508 allele in adults with chronic bronchial hypersecretion.
Egan ME et al. (2004) Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects.
Eidelman O et al. (2002) Role for phospholipid interactions in the trafficking defect of Delta F508-CFTR.
Ellsworth RE et al. (2000) Comparative genomic sequence analysis of the human and mouse cystic fibrosis transmembrane conductance regulator genes.
et al. (1990) Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG).
Fajac I et al. (2008) Could a defective epithelial sodium channel lead to bronchiectasis.
Fanen P et al. (1992) Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.
Férec C et al. (1992) Detection of over 98% cystic fibrosis mutations in a Celtic population.
Ferrie RM et al. (1992) Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene.
Fischer H et al. (2004) Vitamin C controls the cystic fibrosis transmembrane conductance regulator chloride channel.
Fonknechten N et al. (1992) CFTR illegitimate transcription in lymphoid cells: quantification and applications to the investigation of pathological transcripts.
French PJ et al. (1996) A delta F508 mutation in mouse cystic fibrosis transmembrane conductance regulator results in a temperature-sensitive processing defect in vivo.
Gasparini P et al. (1992) Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.
Gasparini P et al. (1993) Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes.
Gasparini P et al. (1991) The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.
Ghanem N et al. (1994) Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Gille C et al. (1991) A pooling strategy for heterozygote screening of the delta F508 cystic fibrosis mutation.
Girodon E et al. () CFTR gene mutations in adults with disseminated bronchiectasis.
Gomez Lira M et al. (2000) High frequency of cystic fibrosis transmembrane regulator mutation L997F in patients with recurrent idiopathic pancreatitis and in newborns with hypertrypsinemia.
Graham CA et al. (1992) Identification of a frameshift mutation (557 del T) in exon 4 of the CFTR gene.
Granell R et al. (1992) Identification of a nonframeshift 84-bp deletion in exon 13 of the cystic fibrosis gene.
Grebe TA et al. (1992) Mutation analysis of the cystic fibrosis transmembrane regulator gene in Native American populations of the southwest.
Grebe TA et al. (1994) Genetic analysis of Hispanic individuals with cystic fibrosis.
Green ED et al. (1990) Chromosomal region of the cystic fibrosis gene in yeast artificial chromosomes: a model for human genome mapping.
Gregory RJ et al. (1991) Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2.
Greil I et al. () A new missense mutation G1249E in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Groman JD et al. (2004) Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
Guillermit H et al. (1990) A 3' splice site consensus sequence mutation in the cystic fibrosis gene.
Guillermit H et al. (1993) A novel mutation in exon 3 of the CFTR gene.
Haardt M et al. (1999) C-terminal truncations destabilize the cystic fibrosis transmembrane conductance regulator without impairing its biogenesis. A novel class of mutation.
Hamosh A et al. (1992) Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus.
Hamosh A et al. (1991) Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.
Hefferon TW et al. (2002) Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.
Hefferon TW et al. (2004) A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing.
Hefferon TW et al. (2004) A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing.
Howard M et al. (1996) Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations.
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Iannuzzi MC et al. (1991) Two frameshift mutations in the cystic fibrosis gene.
Ivaschenko TE et al. (1991) A deletion of two nucleotides in exon 10 of the CFTR gene in a Soviet family with cystic fibrosis causing early infant death.
Jensen TJ et al. (1995) Multiple proteolytic systems, including the proteasome, contribute to CFTR processing.
Jiang Q et al. (1998) Cellular heterogeneity of CFTR expression and function in the lung: implications for gene therapy of cystic fibrosis.
Jin R et al. (2006) The cystic fibrosis transmembrane conductance regulator (Cftr) modulates the timing of puberty in mice.
Johannesson M et al. (1997) Delayed puberty in girls with cystic fibrosis despite good clinical status.
Jones CT et al. (1992) Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation.
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Kerem BS et al. (1989) DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis.
Kerem B et al. (1989) Identification of the cystic fibrosis gene: genetic analysis.
Kerem BS et al. (1990) Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.
Kerem E et al. (1990) The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).
Kerem E et al. (1995) Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel.
Kiesewetter S et al. (1993) A mutation in CFTR produces different phenotypes depending on chromosomal background.
Klinger K et al. (1990) Cystic fibrosis mutations in the Hutterite Brethren.
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Konstan MW et al. (1995) Effect of high-dose ibuprofen in patients with cystic fibrosis.
Kulczycki LL et al. (2003) A clinical perspective of cystic fibrosis and new genetic findings: relationship of CFTR mutations to genotype-phenotype manifestations.
Laroche D et al. (1991) Abnormal frequency of delta F508 mutation in neonatal transitory hypertrypsinaemia.
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Lee JH et al. (2003) A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases.
Lee YM et al. (1995) Primary sclerosing cholangitis.
Leoni GB et al. (1995) A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.
Lerer I et al. (1992) Cystic fibrosis mutations delta F508 and G542X in Jewish patients.
Logan J et al. (1994) Cystic fibrosis transmembrane conductance regulator mutations that disrupt nucleotide binding.
Loirat F et al. (1997) G542X as a probable Phoenician cystic fibrosis mutation.
Marino CR et al. (1991) Localization of the cystic fibrosis transmembrane conductance regulator in pancreas.
Mashal RD et al. (1995) Detection of mutations by cleavage of DNA heteroduplexes with bacteriophage resolvases.
McCombie WR et al. (1992) Caenorhabditis elegans expressed sequence tags identify gene families and potential disease gene homologues.
Mendes F et al. (2003) Unusually common cystic fibrosis mutation in Portugal encodes a misprocessed protein.
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Moyer BD et al. (2000) The PDZ-interacting domain of cystic fibrosis transmembrane conductance regulator is required for functional expression in the apical plasma membrane.
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Nunes V et al. (1992) A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation.
Nunes V et al. (1992) Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as delta F508 homozygotes.
Nunes V et al. (1993) A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.
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Pier GB et al. (1998) Salmonella typhi uses CFTR to enter intestinal epithelial cells.
Pignatti PF et al. (1996) CFTR gene variant IVS8-5T in disseminated bronchiectasis.
Pind S et al. (1994) Participation of the endoplasmic reticulum chaperone calnexin (p88, IP90) in the biogenesis of the cystic fibrosis transmembrane conductance regulator.
Ramjeesingh M et al. (1999) Walker mutations reveal loose relationship between catalytic and channel-gating activities of purified CFTR (cystic fibrosis transmembrane conductance regulator).
Randak C et al. (1997) A recombinant polypeptide model of the second nucleotide-binding fold of the cystic fibrosis transmembrane conductance regulator functions as an active ATPase, GTPase and adenylate kinase.
Randak C et al. (2003) An intrinsic adenylate kinase activity regulates gating of the ABC transporter CFTR.
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