Erbliche Bronchial- und Lungenerkrankungen

De Rose V et al. (2005) Fcgamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis.

Audrézet MP et al. (2002) Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis.

Orita M et al. (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

Fajac I et al. (2008) Could a defective epithelial sodium channel lead to bronchiectasis.

None (1991) Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada).

Savov A et al. (1995) Double mutant alleles: are they rare?

Sharer N et al. (1998) Mutations of the cystic fibrosis gene in patients with chronic pancreatitis.

Cohn JA et al. (1998) Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.

Chang MC et al. (2007) Spectrum of mutations and variants/haplotypes of CFTR and genotype-phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis.

Cheadle JP et al. (1992) A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene.

Férec C et al. (1992) Detection of over 98% cystic fibrosis mutations in a Celtic population.

Rosenfeld MA et al. (1992) In vivo transfer of the human cystic fibrosis transmembrane conductance regulator gene to the airway epithelium.

Cutting GR et al. (1992) Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.

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.

Snouwaert JN et al. (1992) An animal model for cystic fibrosis made by gene targeting.

Dorin JR et al. (1992) Cystic fibrosis in the mouse by targeted insertional mutagenesis.

Abeliovich D et al. (1992) Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.

Cheadle J et al. (1992) Mild pulmonary disease in a cystic fibrosis child homozygous for R553X.

Laroche D et al. (1991) Abnormal frequency of delta F508 mutation in neonatal transitory hypertrypsinaemia.

Rich DP et al. (1990) Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells.

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.

Marino CR et al. (1991) Localization of the cystic fibrosis transmembrane conductance regulator in pancreas.

Dörk T et al. (1991) Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene.

Nunes V et al. (1991) Analysis of 14 cystic fibrosis mutations in five south European populations.

Dumur V et al. (1990) Abnormal distribution of cystic fibrosis delta F508 allele in adults with chronic bronchial hypersecretion.

Curtis A et al. (1991) Association of less common cystic fibrosis mutations with a mild phenotype.

None (1990) Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG).

Klinger K et al. (1990) Cystic fibrosis mutations in the Hutterite Brethren.

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.

Baylin SB et al. (1980) Age-related abnormalities of circulating polyamines and diamine oxidase activity in cystic fibrosis heterozygotes and homozygotes.

Colledge WH et al. (1995) Generation and characterization of a delta F508 cystic fibrosis mouse model.

Kerem E et al. (1995) Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel.

Sheppard DN et al. (1993) Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties.

Yang Y et al. (1993) An approach for treating the hepatobiliary disease of cystic fibrosis by somatic gene transfer.

Yang Y et al. (1993) Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR.

None (1993) Correlation between genotype and phenotype in patients with cystic fibrosis. The Cystic Fibrosis Genotype-Phenotype Consortium.

Johannesson M et al. (1997) Delayed puberty in girls with cystic fibrosis despite good clinical status.

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.

None (1997) The diagnosis of cystic fibrosis.

Pier GB et al. (1998) Salmonella typhi uses CFTR to enter intestinal epithelial cells.

Dörk T et al. (1998) Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populations.

Reddy MM et al. (1999) Activation of the epithelial Na+ channel (ENaC) requires CFTR Cl- channel function.

Wang J et al. (2000) A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients.

Kabra M et al. (2000) Is the spectrum of mutations in Indian patients with cystic fibrosis different?

Kulczycki LL et al. (2003) A clinical perspective of cystic fibrosis and new genetic findings: relationship of CFTR mutations to genotype-phenotype manifestations.

Egan ME et al. (2004) Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects.

van de Vosse E et al. (2005) Susceptibility to typhoid fever is associated with a polymorphism in the cystic fibrosis transmembrane conductance regulator (CFTR).

Romey MC et al. (1999) First putative sequence alterations in the minimal CFTR promoter region.

Kälin N et al. (1999) DeltaF508 CFTR protein expression in tissues from patients with cystic fibrosis.

Chanson M et al. (1999) Defective regulation of gap junctional coupling in cystic fibrosis pancreatic duct cells.

Haardt M et al. (1999) C-terminal truncations destabilize the cystic fibrosis transmembrane conductance regulator without impairing its biogenesis. A novel class of mutation.

Chang XB et al. (1999) Removal of multiple arginine-framed trafficking signals overcomes misprocessing of delta F508 CFTR present in most patients with cystic fibrosis.

Romey MC et al. () Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone.

Romey MC et al. (2000) A naturally occurring sequence variation that creates a YY1 element is associated with increased cystic fibrosis transmembrane conductance regulator gene expression.

Weixel KM et al. (2000) The carboxyl terminus of the cystic fibrosis transmembrane conductance regulator binds to AP-2 clathrin adaptors.

Ellsworth RE et al. (2000) Comparative genomic sequence analysis of the human and mouse cystic fibrosis transmembrane conductance regulator genes.

Mickle JE et al. (2000) Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channels.

Dörk T et al. (2000) Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.

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.

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.

Wang S et al. (2000) Accessory protein facilitated CFTR-CFTR interaction, a molecular mechanism to potentiate the chloride channel activity.

Callen A et al. (2000) A simplified cyclic adenosine monophosphate-mediated sweat rate test for quantitative measure of cystic fibrosis transmembrane regulator (CFTR) function.

Scotet V et al. (2001) Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis.

Choi JY et al. (2001) Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis.

Buratti E et al. (2001) Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping.

Rowntree RK et al. (2001) An element in intron 1 of the CFTR gene augments intestinal expression in vivo.

Bronsveld I et al. (2001) Chloride conductance and genetic background modulate the cystic fibrosis phenotype of Delta F508 homozygous twins and siblings.

White SM et al. (2001) Cystic fibrosis: a further case of an asymptomatic compound heterozygote.

Broackes-Carter FC et al. (2002) Temporal regulation of CFTR expression during ovine lung development: implications for CF gene therapy.

Dickinson P et al. (2002) The severe G480C cystic fibrosis mutation, when replicated in the mouse, demonstrates mistrafficking, normal survival and organ-specific bioelectrics.

Oceandy D et al. (2002) Gene complementation of airway epithelium in the cystic fibrosis mouse is necessary and sufficient to correct the pathogen clearance and inflammatory abnormalities.

Bobadilla JL et al. (2002) Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.

Hefferon TW et al. (2002) Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.

Eidelman O et al. (2002) Role for phospholipid interactions in the trafficking defect of Delta F508-CFTR.

Mouchel N et al. (2003) Alternative 5' exons of the CFTR gene show developmental regulation.

Pagani F et al. (2003) New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.

Sheth S et al. (2003) Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis.

Reddy MM et al. (2003) Control of dynamic CFTR selectivity by glutamate and ATP in epithelial cells.

Trezise AE et al. (1992) Localization of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) in the rat to chromosome 4 and implications for the evolution of mammalian chromosomes.

Yang H et al. (2003) Nanomolar affinity small molecule correctors of defective Delta F508-CFTR chloride channel gating.

Alper OM et al. (2003) 1154insTC is not a rare CFTR mutation.

Wong LJ et al. (2003) Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations.

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.

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.

Strong TV et al. (1992) Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Aznarez I et al. (2003) Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene.

Lee JH et al. (2003) A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases.

Waterston R et al. (1992) A survey of expressed genes in Caenorhabditis elegans.

McCombie WR et al. (1992) Caenorhabditis elegans expressed sequence tags identify gene families and potential disease gene homologues.

Zeitlin PL et al. (1992) CFTR protein expression in primary and cultured epithelia.

Shoshani T et al. (1992) Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease.

Casals T et al. (1992) Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin.

Ronchetto P et al. (1992) A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A----G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene.

Fonknechten N et al. (1992) CFTR illegitimate transcription in lymphoid cells: quantification and applications to the investigation of pathological transcripts.

Granell R et al. (1992) Identification of a nonframeshift 84-bp deletion in exon 13 of the cystic fibrosis gene.

Nunes V et al. (1992) A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation.

Graham CA et al. (1992) Identification of a frameshift mutation (557 del T) in exon 4 of the CFTR gene.

Dean M et al. (1992) A 22-bp deletion in the coding region of the cystic fibrosis gene.

Kelley KA et al. (1992) Expression and chromosome localization of the murine cystic fibrosis transmembrane conductance regulator.

Lerer I et al. (1992) Cystic fibrosis mutations delta F508 and G542X in Jewish patients.

Claustres M et al. (1992) A new mutation (1078delT) in exon 7 of the CFTR gene in a southern French adult with cystic fibrosis.

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.

Ferrie RM et al. (1992) Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene.

Denning GM et al. (1992) Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive.

Osborne L et al. (1992) Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene.

Gasparini P et al. (1992) Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.

Grebe TA et al. (1992) Mutation analysis of the cystic fibrosis transmembrane regulator gene in Native American populations of the southwest.

Siegel D et al. (1992) Localization of the cystic fibrosis transmembrane conductance regulator (Cftr) to mouse chromosome 6.

Wang XF et al. (2003) Involvement of CFTR in uterine bicarbonate secretion and the fertilizing capacity of sperm.

Wilschanski M et al. (2003) Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations.

Mendes F et al. (2003) Unusually common cystic fibrosis mutation in Portugal encodes a misprocessed protein.

Wang HY et al. (2004) Structural diversity and functional implications of the eukaryotic TDP gene family.

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.

Randak C et al. (2003) An intrinsic adenylate kinase activity regulates gating of the ABC transporter CFTR.

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.

Fischer H et al. (2004) Vitamin C controls the cystic fibrosis transmembrane conductance regulator chloride channel.

Audrézet MP et al. (2004) Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms.

Buratti E et al. (2004) 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.

Rozen R et al. (1992) Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis.

Anguiano A et al. (1992) Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis.

Salvatore D et al. (2005) Isolated elevated sweat chloride concentrations in the presence of the rare mutation S1455X: an extremely mild form of CFTR dysfunction.

Vergani P et al. (2005) CFTR channel opening by ATP-driven tight dimerization of its nucleotide-binding domains.

Clain J et al. (2005) A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype.

Clain J et al. (2005) Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype.

Pagani F et al. (2005) Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.

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.

Chen HJ et al. (2005) Cystic fibrosis with homozygous R553X mutation in a Taiwanese child.

Wauters JG et al. (1991) Frequency of the phenylalanine deletion (delta F508) in the CF gene of Belgian cystic fibrosis patients.

Jin R et al. (2006) The cystic fibrosis transmembrane conductance regulator (Cftr) modulates the timing of puberty in mice.

Sun W et al. (2006) CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype.

Bürger J et al. (1991) Genetic influences in the formation of nasal polyps.

Bal J et al. (1991) A cystic fibrosis patient homozygous for the nonsense mutation R553X.

Younger JM et al. (2006) Sequential quality-control checkpoints triage misfolded cystic fibrosis transmembrane conductance regulator.

Di A et al. (2006) CFTR regulates phagosome acidification in macrophages and alters bactericidal activity.

Cutting GR et al. (1990) A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.

Cheng SH et al. (1990) Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis.

Anand R et al. (1991) A yeast artificial chromosome contig encompassing the cystic fibrosis locus.

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.

Zielenski J et al. (1991) Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) 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.

Wang X et al. (2006) Hsp90 cochaperone Aha1 downregulation rescues misfolding of CFTR in cystic fibrosis.

Tata F et al. (1991) Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene.

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.

Trapnell BC et al. (1991) Expression of the cystic fibrosis transmembrane conductance regulator gene in the respiratory tract of normal individuals and individuals with cystic fibrosis.

Morral N et al. (1991) CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover.

Zielenski J et al. (1991) A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

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.

White MB et al. (1991) A de novo cystic fibrosis mutation: CGA (Arg) to TGA (stop) at codon 851 of the CFTR gene.

Thelin WR et al. (2007) Direct interaction with filamins modulates the stability and plasma membrane expression of CFTR.

Aznarez I et al. (2007) Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X.

Daigneault J et al. (1991) Genetic epidemiology of cystic fibrosis in Saguenay-Lac-St-Jean (Quebec, Canada).

Chalkley G et al. (1991) A cystic fibrosis patient who is homozygous for the G85E mutation has very mild disease.

Chalkley G et al. (1991) Lymphocyte mRNA as a resource for detection of mutations and polymorphisms in the CF gene.

Serohijos AW et al. (2008) Phenylalanine-508 mediates a cytoplasmic-membrane domain contact in the CFTR 3D structure crucial to assembly and channel function.

Sangiuolo F et al. (1991) A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis.

Strong TV et al. (1991) Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels.

Kobayashi K et al. (1990) Benign missense variations in the cystic fibrosis gene.

Thauvin-Robinet C et al. (2009) The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening.

Chehab FF et al. (1991) A dimorphic 4-bp repeat in the cystic fibrosis gene is in absolute linkage disequilibrium with the delta F508 mutation: implications for prenatal diagnosis and mutation origin.

Iannuzzi MC et al. (1991) Two frameshift mutations in the cystic fibrosis gene.

Gille C et al. (1991) A pooling strategy for heterozygote screening of the delta F508 cystic fibrosis mutation.

Osborne L et al. (1991) A mutation in the second nucleotide binding fold of the cystic fibrosis gene.

Nelson PV et al. (1991) Identification of a cystic fibrosis mutation: deletion of isoleucine506.

Gasparini P et al. (1991) The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.

Okiyoneda T et al. (2010) Peripheral protein quality control removes unfolded CFTR from the plasma membrane.

Hutt D et al. (2010) Cell Biology. The proteome in balance.

Cuppens H et al. (1990) A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew.

Vidaud M et al. (1990) Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis.

Guillermit H et al. (1990) A 3' splice site consensus sequence mutation in the cystic fibrosis gene.

Green ED et al. (1990) Chromosomal region of the cystic fibrosis gene in yeast artificial chromosomes: a model for human genome mapping.

Rozen R et al. (1990) Cystic fibrosis mutations in North American populations of French ancestry: analysis of Quebec French-Canadian and Louisiana Acadian families.

Kerem E et al. (1990) The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).

Cutting GR et al. (1990) Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease.

Kerem BS et al. (1990) Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.

Ballabio A et al. (1990) PCR test for cystic fibrosis deletion.

Dean M et al. (1990) Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients.

Latham T et al. (1990) Complex alleles of the acid beta-glucosidase gene in Gaucher disease.

Riordan JR et al. (1989) Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

Chan AM et al. (1989) Molecular cloning and localization to chromosome 6 of mouse INT1L1 gene.

Orita M et al. (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction.

Rommens JM et al. (1989) Identification of the cystic fibrosis gene: chromosome walking and jumping.

Vidaud M et al. (1989) A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia.

Burke JF et al. (1985) Suppression of a nonsense mutation in mammalian cells in vivo by the aminoglycoside antibiotics G-418 and paromomycin.

Buchanan JH et al. (1987) Aminoglycoside antibiotic treatment of human fibroblasts: intracellular accumulation, molecular changes and the loss of ribosomal accuracy.

Konstan MW et al. (1995) Effect of high-dose ibuprofen in patients with cystic fibrosis.

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.

Sangiuolo F et al. (1993) Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene.

Kiesewetter S et al. (1993) A mutation in CFTR produces different phenotypes depending on chromosomal background.

Schwartz M et al. (1994) 394delTT: a Nordic cystic fibrosis mutation.

Grebe TA et al. (1994) Genetic analysis of Hispanic individuals with cystic fibrosis.

Shoshani T et al. (1994) Similar levels of mRNA from the W1282X and the delta F508 cystic fibrosis alleles, in nasal epithelial cells.

Will K et al. (1994) A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis.

Verlingue C et al. (1994) Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis.

Pind S et al. (1994) Participation of the endoplasmic reticulum chaperone calnexin (p88, IP90) in the biogenesis of the cystic fibrosis transmembrane conductance regulator.

Logan J et al. (1994) Cystic fibrosis transmembrane conductance regulator mutations that disrupt nucleotide binding.

Greil I et al. () A new missense mutation G1249E in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Shoshani T et al. (1994) Two novel mutations in the CFTR gene: W1089X in exon 17B and 4010delTATT in exon 21.

Ghanem N et al. (1994) Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Schaedel C et al. (1994) A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.

Romey MC et al. (1994) Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosis.

Russo MP et al. (1995) Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population.

Schwiebert EM et al. (1995) CFTR regulates outwardly rectifying chloride channels through an autocrine mechanism involving ATP.

Leoni GB et al. (1995) A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.

Rozen R et al. (1995) L206W mutation of the cystic fibrosis gene, relatively frequent in French Canadians, is associated with atypical presentations of cystic fibrosis.

Jensen TJ et al. (1995) Multiple proteolytic systems, including the proteasome, contribute to CFTR processing.

van Doorninck JH et al. (1995) A mouse model for the cystic fibrosis delta F508 mutation.

Zeiher BG et al. (1995) A mouse model for the delta F508 allele of cystic fibrosis.

Zielenski J et al. (1995) CFTR gene variant for patients with congenital absence of vas deferens.

Varon R et al. (1995) Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene.

Shoshani T et al. (1993) A new mutation in the CFTR gene, composed of two adjacent DNA alterations, is a common cause of cystic fibrosis among Georgian Jews.

Guillermit H et al. (1993) A novel mutation in exon 3 of the CFTR gene.

Audrézet MP et al. (1993) Identification of 12 novel mutations in the CFTR gene.

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.

Chu CS et al. (1993) Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.

Smit LS et al. (1993) An African-American cystic fibrosis patient homozygous for a novel frameshift mutation associated with reduced CFTR mRNA levels.

Welsh MJ et al. (1993) Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis.

Claustres M et al. (1993) Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France.

Bienvenu T et al. (1993) Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H.

Yang Y et al. (1993) The common variant of cystic fibrosis transmembrane conductance regulator is recognized by hsp70 and degraded in a pre-Golgi nonlysosomal compartment.

Mashal RD et al. (1995) Detection of mutations by cleavage of DNA heteroduplexes with bacteriophage resolvases.

Chillón M et al. (1995) Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.

Smit LS et al. (1995) Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity.

Youil R et al. (1995) Screening for mutations by enzyme mismatch cleavage with T4 endonuclease VII.

Lee YM et al. (1995) Primary sclerosing cholangitis.

Chillón M et al. (1994) A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data.

Orozco L et al. (1994) Identification of the I507 deletion by site-directed mutagenesis.

Dorval I et al. (1993) Analysis of 160 CF chromosomes: detection of a novel mutation in exon 20.

Augarten A et al. (1993) Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C-->T mutation.

Romey MC et al. (1993) Rapid detection of single nucleotide deletions: application to the beta 6 (-A) mutation of the beta-globin gene and to cystic fibrosis.

Varon R et al. (1995) Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation.

Costes B et al. (1995) Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens.

Dumur V et al. (1996) Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): correlation between genotype and phenotype.

Sato S et al. (1996) Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation.

Howard M et al. (1996) Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations.

Delaney SJ et al. (1996) Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations.

Pignatti PF et al. (1996) CFTR gene variant IVS8-5T in disseminated bronchiectasis.

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.

Teng H et al. (1997) Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells.

Antiñolo G et al. (1997) Genotype-phenotype relationship in 12 patients carrying cystic fibrosis mutation R334W.

Castaldo G et al. (1997) Severe liver impairment in a cystic fibrosis-affected child homozygous for the G542X mutation.

Loirat F et al. (1997) G542X as a probable Phoenician cystic fibrosis mutation.

Brown CR et al. (1996) Chemical chaperones correct the mutant phenotype of the delta F508 cystic fibrosis transmembrane conductance regulator protein.

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.

Girodon E et al. () CFTR gene mutations in adults with disseminated bronchiectasis.

Bedwell DM et al. (1997) Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line.

Cuppens H et al. (1998) Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation.

Casals T et al. (1997) High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes.

Kocher O et al. (1998) Identification and partial characterization of PDZK1: a novel protein containing PDZ interaction domains.

Mickle JE et al. (1998) A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis.

Zhang F et al. (1998) Limited proteolysis as a probe for arrested conformational maturation of delta F508 CFTR.

Sato S et al. (1998) Cotranslational ubiquitination of cystic fibrosis transmembrane conductance regulator in vitro.

de Meeus A et al. (1998) Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD.

Devor DC et al. (1998) Ibuprofen inhibits cystic fibrosis transmembrane conductance regulator-mediated Cl- secretion.

Jiang Q et al. (1998) Cellular heterogeneity of CFTR expression and function in the lung: implications for gene therapy of cystic fibrosis.

Wei L et al. (1998) Phosphorylation site independent single R-domain mutations affect CFTR channel activity.

Ramjeesingh M et al. (1999) Walker mutations reveal loose relationship between catalytic and channel-gating activities of purified CFTR (cystic fibrosis transmembrane conductance regulator).

OMIM.ORG article