Xcode Life

Gene: CFTR

Alternate names for this Gene: ABC35|ABCC7|CF|CFTR/MRP|MRP7|TNR-CFTR|dJ760C5.1

Gene Summary: This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome.

Gene is located in Chromosome: 7

Location in Chromosome : 7q31.2

Description of this Gene: CF transmembrane conductance regulator

Type of Gene: protein-coding

rs17451754 in CFTR gene and Adenocarcinoma Of Esophagus

PMID 27527254 2016 We identified eight new risk loci associated with either Barrett's oesophagus or oesophageal adenocarcinoma, within or near the genes CFTR (rs17451754; p=4·8 × 10-10), MSRA (rs17749155; p=5·2 × 10-10), LINC00208 and BLK (rs10108511; p=2·1 × 10-9), KHDRBS2 (rs62423175; p=3·0 × 10-9), TPPP and CEP72 (rs9918259; p=3·2 × 10-9), TMOD1 (rs7852462; p=1·5 × 10-8), SATB2 (rs139606545; p=2·0 × 10-8), and HTR3C and ABCC5 (rs9823696; p=1·6 × 10-8).

rs4148689 in CFTR gene and Arthritis, Gouty

PMID 22179738 2012 Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.

rs17451754 in CFTR gene and Barrett Esophagus

rs121908752 in CFTR gene and Congenital bilateral aplasia of vas deferens

PMID 9736778 1998 Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.

PMID 7529962 1995 Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.

PMID 10651488 1998 A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. Online.

PMID 9067761 1997 Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).

PMID 17329263 2007 Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.

PMID 7539342 1995 Structural analysis of CFTR gene in congenital bilateral absence of vas deferens.

PMID 17975025 2007 Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders.

PMID 16980811 2006 Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens--implications for newborn screening.

PMID 23276700 2013 Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.

PMID 9521595 1998 Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I).

PMID 20021716 2009 Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners.

PMID 9254864 1997 Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities.

PMID 15287992 2004 Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?

PMID 10200050 1998 Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutatations. Mutations in brief no. 138. Online.

PMID 21520337 2011 Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.

PMID 20100616 2010 Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens.

PMID 17413420 2007 Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens.

PMID 19810821 2009 To date, R258G has only been found in six patients: a French congenital bilateral absence of vas deferens patient, reported in 1995 and five unrelated subjects from our cohort of non-CF patients, described here.

PMID 9305991 1997 Disease-associated mutations in cytoplasmic loops 1 and 2 of cystic fibrosis transmembrane conductance regulator impede processing or opening of the channel.

PMID 10875853 2000 Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens.

PMID 16196493 2006 Rescue of DeltaF508 and other misprocessed CFTR mutants by a novel quinazoline compound.

PMID 9067761 1997 Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).

PMID 10923036 2000 Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.

PMID 8829643 1996 A novel missense mutation in exon 16 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in CBAVD patients.

PMID 9272157 1997 Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.

PMID 20059485 2010 Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

PMID 8947061 1996 Genotype-phenotype relationships in a cohort of adult cystic fibrosis patients.

PMID 11491164 2001 Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C.

PMID 7506096 1993 A mutation in CFTR produces different phenotypes depending on chromosomal background.

PMID 18456578 2008 Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

PMID 15371902 2005 Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.

PMID 24440181 2014 The relative frequency of CFTR mutation classes in European patients with cystic fibrosis.

PMID 19092437 2008 Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.

rs975722 in CFTR gene and Coronary Artery Disease

PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs1057516232 in CFTR gene and Cystic Fibrosis

PMID 25910067 2015 A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.

PMID 26471113 2017 As this mutation is consistent with the clinical manifestations of CF and no other mutations were detected after scanning the gene sequence, we suggest that the CF phenotype is caused by compound heterozygosity for c.865A>T and c.3651_3652insAAAT.

PMID 16963320 2007 CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent.

PMID 23810505 2013 Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California.

PMID 10794365 2000 Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations.

PMID 12000363 2002 Complete screening of the CFTR gene in Argentine cystic fibrosis patients.

PMID 26500004 2016 Identification and frequencies of cystic fibrosis mutations in central Argentina.

PMID 25900089 2016 Assessment of epithelial sodium channel variants in nonwhite cystic fibrosis patients with non-diagnostic CFTR genotypes.

PMID 15858154 2005 Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.

PMID 23974870 2013 Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

PMID 26708955 2016 The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing.

PMID 12940920 2003 The phenotypic consequences of CFTR mutations.

PMID 9239681 1996 Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens.

PMID 12952861 2003 A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases.

PMID 16187186 2005 Mutation analysis of SPINK1 and CFTR gene in Korean patients with alcoholic chronic pancreatitis.

PMID 15121783 2004 Genetic evidence for CFTR dysfunction in Japanese: background for chronic pancreatitis.

PMID 9272157 1997 Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.

PMID 25492507 2015 Targeted next-generation sequencing effectively analyzed the cystic fibrosis transmembrane conductance regulator gene in pancreatitis.

PMID 16678503 2006 Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Asians with chronic pulmonary disease: a pilot study.

PMID 28603918 2017 CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.

PMID 25024266 2014 Three charged amino acids in extracellular loop 1 are involved in maintaining the outer pore architecture of CFTR.

PMID 25981758 2015 Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.

PMID 9521595 1998 Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I).

PMID 15084222 2004 Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.

PMID 15789152 2005 Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

PMID 22504961 2012 Comparing the American and European diagnostic guidelines for cystic fibrosis: same disease, different language?

PMID 25431289 2014 Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.

PMID 18373402 2008 CFTR mutations in Turkish and North African cystic fibrosis patients in Europe: implications for screening.

PMID 24014130 2014 Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.

PMID 15371907 2005 Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: results from a collaborative study.

PMID 12394352 2003 Standards and guidelines for CFTR mutation testing.

PMID 23420618 2013 Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping level.

PMID 23857699 2014 Screening for F508del as a first step in the molecular diagnosis of cystic fibrosis.

PMID 22475884 2012 Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.

PMID 23891399 2014 Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function.

PMID 21422883 2011 ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.

PMID 15638824 2005 Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in a southern Italian population.

PMID 23276700 2013 Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.

PMID 12439892 2002 Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients.

PMID 10719683 2000 Since no other signs and symptoms of the CF disease were present, the finding of the rare mutation D110H on exon 4 of the CFTR-gene was paramount in the delineation of his underlying illness.

PMID 11280952 2001 Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.

PMID 11446424 2001 Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients.

PMID 11278813 2001 Disease-associated mutations in the extracytoplasmic loops of cystic fibrosis transmembrane conductance regulator do not impede biosynthetic processing but impair chloride channel stability.

PMID 12752573 2003 Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals.

PMID 22043142 2010 Newborn screening for cystic fibrosis in Alberta: Two years of experience.

PMID 2344617 1990 Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients.

PMID 16436643 2006 A haplotype framework for cystic fibrosis mutations in Iran.

PMID 18456578 2008 Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

PMID 19888064 2009 ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

PMID 19914443 2009 Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond.

PMID 19914445 2009 Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.

PMID 20605539 2010 Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening.

PMID 20675678 2010 Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax.

PMID 17761616 2007 Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health.

PMID 15371902 2005 Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.

PMID 12767731 2003 Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study.

PMID 8707306 1996 CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France.

PMID 7686577 1993 Mild pulmonary, but severe hepatic disease in a cystic fibrosis patient homozygous for a frameshift mutation in the regulatory domain of the CFTR.

PMID 7508414 1993 Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene.

PMID 24586523 2014 CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.

PMID 7541274 1995 Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients.

PMID 7525450 1994 Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.

PMID 22658665 2012 Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis.

PMID 9806422 1998 The association of nonsense codons with exon skipping.

PMID 9554753 1998 Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.

PMID 8723693 1996 A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin.

PMID 8956039 1996 Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes.

PMID 8522333 1995 Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.

PMID 7524909 1994 A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.

PMID 9452054 1998 Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.

PMID 8829633 1996 Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.

PMID 7683628 1993 Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene.

PMID 9452073 1998 A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.

PMID 7543567 1995 A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.

PMID 8406518 1993 Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.

PMID 1284529 1992 Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.

PMID 12529365 2003 A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates.

PMID 12167682 2002 Variant cystic fibrosis phenotypes in the absence of CFTR mutations.

PMID 1710600 1991 Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT).

PMID 20008117 2010 Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures.

PMID 1695717 1990 A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.

PMID 20150177 2010 Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant.

PMID 15528182 2005 Impact of the deltaF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure.

PMID 16822950 2007 Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes.

PMID 10923036 2000 Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.

PMID 8522333 1995 Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.

PMID 23951356 2013 A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.

PMID 25087612 2014 Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

PMID 20021716 2009 Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners.

PMID 21520337 2011 Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.

PMID 23751316 2013 Clinical and morphological characteristics of sporadic genetically determined pancreatitis as compared to idiopathic pancreatitis: higher risk of pancreatic cancer in CFTR variants.

PMID 7691344 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.

PMID 22975760 2013 An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

PMID 15776432 2005 Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype.

PMID 15371903 2005 CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.

PMID 2236053 1990 Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.

PMID 7506096 1993 A mutation in CFTR produces different phenotypes depending on chromosomal background.

PMID 7573058 1995 CFTR gene variant for patients with congenital absence of vas deferens.

PMID 7550243 1995 Relatively high prevalence of the CFTR mutations, G85E and 1154insTC.

PMID 7539080 1995 Two CF patients, one homozygous for the 621 + 1G > T splice mutation, the other homozygous for the 1898 + 1G > A splice mutation.

PMID 1283148 1992 The spectrum of CFTR mutations in south-west German cystic fibrosis patients.

PMID 10798368 2000 Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297-1G-->A).

PMID 11180668 2001 European Epidemiologic Registry of Cystic Fibrosis (ERCF): comparison of major disease manifestations between patients with different classes of mutations.

PMID 1903761 1991 A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis.

PMID 24440181 2014 The relative frequency of CFTR mutation classes in European patients with cystic fibrosis.

PMID 16132229 2005 Nucleotide binding domains of human CFTR: a structural classification of critical residues and disease-causing mutations.

PMID 20059485 2010 Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

PMID 7534226 1995 To understand better how mutations in CFTR disrupt Cl- channel function and to learn about the relationship between genotype and phenotype, we studied two CF mutants, A455E and P574H, that are associated with pancreatic sufficiency.

PMID 12815607 2003 Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland.

PMID 10362539 1999 Processing of CFTR bearing the P574H mutation differs from wild-type and deltaF508-CFTR.

PMID 18230692 2008 To study the mechanism of action of several pharmacological chaperones benzo[c]quinolizinium (MPB), we analyzed their effects on two CF mutations; F508del-CFTR and G622D-CFTR.

PMID 25443471 2015 On the basis of the clinical features presented by the eleven patients, we postulate that the p.Gly622Asp might be associated with a wide spectrum of phenotypes including classical cystic fibrosis.

PMID 20435887 2010 C terminus of nucleotide binding domain 1 contains critical features for cystic fibrosis transmembrane conductance regulator trafficking and activation.

PMID 9439669 1997 High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes.

PMID 9482579 1998 Of 56 mutations seen in native U.K. CF patients, only DeltaF508, R709X, and 2184insA were detected in the Pakistani patients.

PMID 1284534 1992 Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.

PMID 15365999 2004 Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients.

PMID 7522211 1994 Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

PMID 15287992 2004 Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?

PMID 11668613 2001 Improved detection of CFTR mutations in Southern California Hispanic CF patients.

PMID 15017334 2004 Frequency of the cystic fibrosis 3199del6 mutation in individuals heterozygous for I148T.

PMID 12172395 2002 Cystic fibrosis screening using the College panel: platform comparison and lessons learned from the first 20,000 samples.

PMID 8707304 1996 Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation test.

PMID 12394343 2003 The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis.

PMID 15371908 2005 Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: evidence that 3199del6 is a disease-causing mutation.

PMID 7516234 1994 Identification of a 6 bp deletion (3195del6) in exon 17a of the cystic fibrosis (CFTR) gene.

PMID 26146130 2015 Risk of Misdiagnosis Due to Allele Dropout and False-Positive PCR Artifacts in Molecular Diagnostics: Analysis of 30,769 Genotypes.

PMID 22020151 2012 Extensive molecular analysis of patients bearing CFTR-related disorders.

PMID 22627569 2012 Report on the p.Ser489X (p.Ser489*) CFTR mutation, a variant with severe associated phenotype and high prevalence in a Quebec French-Canadian cystic fibrosis patient population.

PMID 12007216 2002 Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.

PMID 11388756 2001 Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.

PMID 22311127 2012 Hispanic Infants with cystic fibrosis show low CFTR mutation detection rates in the Illinois newborn screening program.

PMID 18788470 2008 XV-2c/KM19 haplotypes analysis of cystic fibrosis patients from western Mexico.

PMID 26574590 2015 Newborn Screening for Cystic Fibrosis in California.

PMID 26098992 2015 Utility of a very high IRT/No mutation referral category in cystic fibrosis newborn screening.

PMID 7509232 1993 In frame deletion (delta F311) within a short trinucleotide repeat of the first transmembrane region of the cystic fibrosis gene.

PMID 9443874 1998 Cystic fibrosis transmembrane-conductance regulator mutations among African Americans.

PMID 15300780 2004 Detection of CFTR mutations using temporal temperature gradient gel electrophoresis.

PMID 10993719 2000 A novel CFTR frame-shift mutation, 935delA, in two Hispanic cystic fibrosis patients.

PMID 21416780 2011 CFTR allelic heterogeneity in Mexican patients with cystic fibrosis: implications for molecular screening.

PMID 8947061 1996 Genotype-phenotype relationships in a cohort of adult cystic fibrosis patients.

PMID 18782298 2009 Identification and characterization of CFTR gene mutations in Indian CF patients.

PMID 12521276 2002 Cystic fibrosis transmembrane regulator gene mutations in Bahrain.

PMID 9482579 1998 Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C).

PMID 22438829 2012 Variation in MSRA modifies risk of neonatal intestinal obstruction in cystic fibrosis.

PMID 17716958 2008 Characterisation of mutations and genotype-phenotype correlation in cystic fibrosis: experience from India.

PMID 15463906 2004 Cystic fibrosis at the Reunion Island (France): spectrum of mutations and genotype-phenotype for the Y122X mutation.

PMID 1284539 1992 Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as delta F508 homozygotes.

PMID 10875853 2000 Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens.

PMID 1373934 1992 Identification of a nonframeshift 84-bp deletion in exon 13 of the cystic fibrosis gene.

PMID 17331079 2007 Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry.

PMID 10777364 2000 A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients.

PMID 21474639 2011 Cystic fibrosis carrier testing in an ethnically diverse US population.

PMID 19724303 2010 The CFTR frameshift mutation 3905insT and its effect at transcript and protein level.

PMID 1284541 1992 Identification of a new splicing mutation (406-1 G-C) in the CFTR gene.

PMID 23687349 2013 Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR.

PMID 21796730 2011 Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme.

PMID 16980811 2006 Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens--implications for newborn screening.

PMID 16049310 2005 Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.

PMID 24129438 2014 Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis.

PMID 18306312 2008 N-terminal CFTR missense variants severely affect the behavior of the CFTR chloride channel.

PMID 19202204 2008 Mutation analysis of the CFTR gene in Slovak cystic fibrosis patients by DHPLC and subsequent sequencing: identification of four novel mutations.

PMID 7543385 1995 Skipping of exon 12 as a consequence of a point mutation (1898 + 5G-->T) in the cystic fibrosis transmembrane conductance regulator gene found in a consanguineous Chinese family.

PMID 25580864 2015 Characterization of gene mutations and phenotypes of cystic fibrosis in Chinese patients.

PMID 26826884 2016 Clinical Phenotypes and Genotypic Spectrum of Cystic Fibrosis in Chinese Children.

PMID 23381846 2013 A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene.

PMID 12874665 2003 Detection of novel CFTR mutations in Taiwanese cystic fibrosis patients.

PMID 16202790 2005 Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes.

PMID 23089694 2012 Acute appendicitis mimicking intestinal obstruction in a patient with cystic fibrosis.

PMID 10925568 2000 Novel cystic fibrosis mutation (2215insG) in two adolescent Taiwanese siblings.

PMID 8213163 1993 Cystic fibrosis in two Chinese infants in Taiwan.

PMID 12865275 2003 Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas.

PMID 16436646 2006 Detection of an apparent homozygous 3120G>A cystic fibrosis mutation on a routine carrier screen.

PMID 20932301 2010 Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients.

PMID 9150159 1997 Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.

PMID 9003508 1997 Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations.

PMID 15176679 2004 Genotype/phenotype correlation of the G85E mutation in a large cohort of cystic fibrosis patients.

PMID 8844213 1996 Recurrence was probably the case for 9 CF mutations (R117H, H199Y, R347YH, R347P, L558S, 2184insA, 3272-26A-->G, R1162X, and 3849 + 10kbC-->T).

PMID 9920885 1999 Regulation of Cl-/ HCO3- exchange by cystic fibrosis transmembrane conductance regulator expressed in NIH 3T3 and HEK 293 cells.

PMID 8663008 1996 These residues are conserved across species, and mutations of two (P99L and P205S) are associated with cystic fibrosis.

PMID 21097845 2011 CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR.

PMID 11938353 2002 A protein sequence that can encode native structure by disfavoring alternate conformations.

PMID 10225950 1999 Dynamic association of proteasomal machinery with the centrosome.

PMID 10388469 1999 Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: implications in screening for the disease and phenotype characterization for patients with homozygote mutations.

PMID 7684644 1993 Two novel frame-shift mutations: 977 insA in exon 6B, and 4016 insT in exon 21, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

PMID 21429822 2011 Preconceptional identification of cystic fibrosis carriers in the Sardinian population: A pilot screening program.

PMID 1283149 1992 A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients.

PMID 11005149 2000 Mild clinical phenotype associated with R1158X/S549R(T-->G) CFTR genotype.

PMID 22293084 2012 Ivacaftor potentiation of multiple CFTR channels with gating mutations.

PMID 10401194 1999 Detailed radiological analyses were performed by a single observer in 12 children with CF from the United Arab Emirates who were homozygous for CFTR mutation S549R (T-->G).

PMID 10764788 2000 Analysis of cystic fibrosis-associated missense mutations in the first nucleotide binding domain (NBD1), including A455E, S549R, Y563N, and P574H, revealed reduced levels of mature CFTR with elevated levels of carboxyl-terminal polypeptide fragments of 105 and 90 kDa.

PMID 24633926 2014 Identification of a novel 5' alternative CFTR mRNA isoform in a patient with nasal polyposis and CFTR mutations.

PMID 15181619 2004 Distal intestinal obstruction syndrome in adults with cystic fibrosis.

PMID 1723056 1991 A de novo cystic fibrosis mutation: CGA (Arg) to TGA (stop) at codon 851 of the CFTR gene.

PMID 24019231 2014 Aerobic fitness is associated with lower risk of hospitalization in children with cystic fibrosis.

PMID 23065710 2013 Alternative splicing of in-frame exon associated with premature termination codons: implications for readthrough therapies.

PMID 9379898 1997 Mutational analysis of the Saccharomyces cerevisiae ATP-binding cassette transporter protein Ycf1p.

PMID 1722350 1991 Chloride conductance expressed by delta F508 and other mutant CFTRs in Xenopus oocytes.

PMID 11242048 2001 Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis.

PMID 1944451 1991 Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels.

PMID 7544788 1995 Because PPi stimulated wild-type channels, we tested its effect on CFTR containing the cystic fibrosis mutations: delta F508, R117H, and G551S.PPi stimulated all three.

PMID 7606851 1995 Mild cystic fibrosis disease in three Mexican delta-F508/G551S compound heterozygous siblings.

PMID 11379874 2001 Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling.

PMID 21909392 2011 The K+ channel opener 1-EBIO potentiates residual function of mutant CFTR in rectal biopsies from cystic fibrosis patients.

PMID 7524909 1994 A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.

PMID 7505693 1993 Two novel mutations in the transmembrane domains of the CFTR gene in subjects of Sardinian descent.

PMID 9452054 1998 Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.

PMID 1382316 1992 Regulation by ATP and ADP of CFTR chloride channels that contain mutant nucleotide-binding domains.

PMID 1284530 1992 A serine to proline substitution (S1255P) in the second nucleotide binding fold of the cystic fibrosis gene.

PMID 8477260 1993 Detection of more than 94% cystic fibrosis mutations in a sample of Belgian population and identification of four novel mutations.

PMID 7543317 1995 Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis.

PMID 9499426 1998 A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis.

PMID 17662673 2008 Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations.

PMID 16801189 2006 Identification of the 5T-12TG allele of the cystic fibrosis transmembrane conductance regulator gene in hypertrypsinaemic newborns.

PMID 10852925 2000 The PDZ-interacting domain of cystic fibrosis transmembrane conductance regulator is required for functional expression in the apical plasma membrane.

PMID 11171377 2001 A PDZ-binding motif is essential but not sufficient to localize the C terminus of CFTR to the apical membrane.

PMID 12651858 2003 The role of the C terminus and Na+/H+ exchanger regulatory factor in the functional expression of cystic fibrosis transmembrane conductance regulator in nonpolarized cells and epithelia.

PMID 25304080 2014 Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study.

PMID 25963003 2015 Inconclusive diagnosis of cystic fibrosis after newborn screening.

PMID 24388274 2014 S1455X CFTR mutation and upper airway colonization with Pseudomonas aeruginosa.

PMID 10562297 1999 A PDZ-interacting domain in CFTR is an apical membrane polarization signal.

PMID 15480987 2004 CFTR Cl- channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis.

PMID 14623323 2003 Pharmacological strategies previously reported for treatment of CF patients with the F508del mutation could thus be also effective in CF patients bearing the A561E mutation.

PMID 16240056 2005 Cystic Fibrosis--clinical features of a sample of Portuguese patients.

PMID 22859523 2012 β-adrenergic sweat secretion as a diagnostic test for cystic fibrosis.

PMID 27717243 2017 Differences in gene mutations between Chinese and Caucasian cystic fibrosis patients.

PMID 22442927 2011 Retrospective analysis of microorganisms isolated from cystic fibrosis patients in Southern Italy, 2002-2010.

PMID 9822639 1998 A conserved region of the R domain of cystic fibrosis transmembrane conductance regulator is important in processing and function.

PMID 9736778 1998 Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.

PMID 9067754 1997 Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene.

PMID 7691345 1993 Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR.

PMID 7683952 1993 Identification of 12 novel mutations in the CFTR gene.

PMID 9725922 1998 Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.

PMID 12215837 2002 Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960.

PMID 24697796 2014 Does integration of various ion channel measurements improve diagnostic performance in cystic fibrosis?

PMID 23883480 2013 Our study supports that compound heterozygosis ∆F508-R1438W/Y1032C is a 'cystic fibrosis-causing genotype' characterized by an immunoreactive trypsinogen positive screening, abnormal sweat chloride testing, and pancreatic sufficiency, with an increased risk of acute pancreatitis at an early age.

PMID 29805046 2018 Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.

PMID 30046002 2018 Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.

PMID 17329263 2007 Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.

PMID 12133923 2002 Screening for cystic fibrosis in newborn infants: results of a pilot programme based on a two tier protocol (IRT/DNA/IRT) in the Italian population.

PMID 19318035 2009 Borderline sweat test: Utility and limits of genetic analysis for the diagnosis of cystic fibrosis.

PMID 21538969 2011 Clinical outcomes in infants with cystic fibrosis transmembrane conductance regulator (CFTR) related metabolic syndrome.

PMID 11504857 2001 A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.

PMID 27171515 2016 Genophenotypic Analysis of Pediatric Patients With Acute Recurrent and Chronic Pancreatitis.

PMID 19406970 2009 Renal involvement in cystic fibrosis: diseases spectrum and clinical relevance.

PMID 19318346 2009 Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis.

PMID 26348465 2015 Diagnostic Accuracy of a Short Endoscopic Secretin Test in Patients With Cystic Fibrosis.

PMID 21184098 2011 Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy.

PMID 27049043 2016 CT-abnormalities, bacteriology and symptoms of sinonasal disease in children with Cystic Fibrosis.

PMID 22326559 2012 Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene.

PMID 15744829 2005 Novel contributions to the Asian CFTR mutation spectrum: Genotype and phenotype in Thai patients with cystic fibrosis.

PMID 16931591 2006 A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in Sardinia: implications for population screening.

PMID 25569440 2015 Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis.

PMID 21779199 2011 Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis.

PMID 25824381 2015 Mutation and new polymorphisms insight in introns 11 to 14a of CFTR gene of northern Iranian cystic fibrosis patients.

PMID 9429141 1997 Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis.

PMID 20797923 2010 Mutational spectrum of cystic fibrosis in the Lebanese population.

PMID 16493442 2006 Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms.

PMID 15520400 2004 Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis.

PMID 17235394 2007 Direct interaction with filamins modulates the stability and plasma membrane expression of CFTR.

PMID 17137500 2006 Progression of pulmonary hyperinflation and trapped gas associated with genetic and environmental factors in children with cystic fibrosis.

PMID 20351101 2010 Biochemical basis of the interaction between cystic fibrosis transmembrane conductance regulator and immunoglobulin-like repeats of filamin.

PMID 19897426 2010 A 10-year large-scale cystic fibrosis carrier screening in the Italian population.

PMID 21983161 2012 Mild cystic fibrosis in patients with the rare P5L CFTR mutation.

PMID 17594398 2007 Does cystic fibrosis neonatal screening detect atypical CF forms? Extended genetic characterization and 4-year clinical follow-up.

PMID 17594397 2007 Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF.

PMID 28957316 2017 The population genetics of human disease: The case of recessive, lethal mutations.

PMID 21931512 2011 Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele.

PMID 7544319 1995 Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations.

PMID 10762539 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.

PMID 18597042 2008 Atomic model of human cystic fibrosis transmembrane conductance regulator: membrane-spanning domains and coupling interfaces.

PMID 29497617 2018 Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.

PMID 28771972 2017 A new insight into CFTR allele frequency in Brazil through next generation sequencing.

PMID 30146269 2019 Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands.

PMID 16189704 2005 Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples.

PMID 22973227 2012 Development of CFTR Structure.

PMID 17003641 2006 Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis.

PMID 17718859 2007 Cystic fibrosis in a southern Brazilian population: characteristics of 90% of the alleles.

PMID 11729110 2001 Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations.

PMID 22210114 2012 Human-mouse cystic fibrosis transmembrane conductance regulator (CFTR) chimeras identify regions that partially rescue CFTR-ΔF508 processing and alter its gating defect.

PMID 25869325 2015 Cystic fibrosis transmembrane conductance regulator gene variants are associated with autoimmune pancreatitis and slow response to steroid treatment.

PMID 18687795 2008 Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

PMID 9099843 1997 Cystic fibrosis mutations and associated haplotypes in Bulgaria - a comparative population genetic study.

PMID 8662892 1996 Disease-associated mutations in the fourth cytoplasmic loop of cystic fibrosis transmembrane conductance regulator compromise biosynthetic processing and chloride channel activity.

PMID 8528204 1995 Double mutant alleles: are they rare?

PMID 23055971 2012 Functional Rescue of F508del-CFTR Using Small Molecule Correctors.

PMID 7512860 1994 Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct DNA sequencing.

PMID 17539902 2007 Spectrum of mutations and variants/haplotypes of CFTR and genotype-phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis.

PMID 20460946 2010 CFTR gene mutation in patients with apparently idiopathic pancreatitis: lack of phenotype-genotype correlation.

PMID 7518409 1994 Unexpected inactivation of acceptor consensus splice sequence by a -3 C to T transition in intron 2 of the CFTR gene.

PMID 11788090 2001 Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations.

PMID 19833837 2009 Amniotic fluid digestive enzyme analysis is useful for identifying CFTR gene mutations of unclear significance.

PMID 15333598 2004 Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens.

PMID 12454843 2002 Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis.

PMID 12120234 2001 CFTR and cationic trypsinogen mutations in idiopathic pancreatitis and neonatal hypertrypsinemia.

PMID 12825076 2003 Mutations in the SPINK1 gene in idiopathic pancreatitis Italian patients.

PMID 9259197 1997 Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium.

PMID 16478680 2006 Phenotypic discordance in three siblings affected by atypical cystic fibrosis with the F508del/D614G genotype.

PMID 11462247 2001 Six possibly CF-related mutations were detected: L997F and 3878delG were found in two of the subjects already carrying another mutation, S1235R and L997F in one patient carrying the 5T, and L997F and D614G in the two patients with borderline sweat chloride.

PMID 26014425 2016 The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.

PMID 7472820 1995 Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations.

PMID 12070264 2002 Relationship between genotype and phenotype for the CFTR gene W846X mutation.

PMID 1709778 1991 Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy.

PMID 11448786 2001 Cystic fibrosis: the 'bicarbonate before chloride' hypothesis.

PMID 15948195 2005 Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.

PMID 7680525 1993 The crossover was located between exons 14a and 17b, an interval of approximately 15 kbp. delta F508 and M1101K accounted for all of the CF mutations in patients from 16 CF families representing the three subdivisions of the Hutterite population.

PMID 16840743 2006 Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials.

PMID 9507391 1998 P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population.

PMID 9043501 1997 The incidence of cystic fibrosis gene mutations in patients with congenital bilateral absence of the vas deferens in Scotland.

PMID 17495464 2007 Functional characterization of a novel CFTR mutation P67S identified in a patient with atypical cystic fibrosis.

PMID 15698946 2004 High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France.

PMID 7551394 1995 Screening Young syndrome patients for CFTR mutations.

PMID 7521710 1994 Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 15074370 2004 Hypercalciuria and nephrocalcinosis in cystic fibrosis patients.

PMID 7682196 1993 Four novel cystic fibrosis mutations in splice junction sequences affecting the CFTR nucleotide binding folds.

PMID 1379210 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.

PMID 15758663 2005 Reduced CFTR function and the pathobiology of idiopathic pancreatitis.

PMID 17449517 2007 Pancreatic phenotype in infants with cystic fibrosis identified by mutation screening.

PMID 21679131 2011 Enhanced frequency of CFTR gene variants in couples who are candidates for assisted reproductive technology treatment.

PMID 16784904 2007 Highly preferential association of NonF508del CF mutations with the M470 allele.

PMID 12919146 2003 Mutations located in exon 24 of the CFTR gene are associated with a mild cystic fibrosis phenotype.

PMID 11938439 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.

PMID 18467194 2008 The study of cystic fibrosis transmembrane conductance regulator gene mutations in a group of patients from Romania.

PMID 22439019 2008 Prenatal screening of Cystic Fibrosis: a single centre experience.

PMID 27264265 2016 Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.

PMID 11810271 2001 Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A-->G, 2751+2T-->A, 296+1G-->C, 1717-9T-->C-D565G) and one nonsense mutation (E822X) in the CFTR gene.

PMID 25308578 2014 Impact of Cystic Fibrosis Transmembrane Regulator (CFTR) gene mutations on male infertility.

PMID 20657600 2010 Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols.

PMID 19893581 2010 Is CFTR 621+3 A>G a cystic fibrosis causing mutation?

PMID 26990548 2016 NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine.

PMID 17850636 2007 Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements.

PMID 28544683 2018 Comprehensive genetic study of cystic fibrosis in Slovak patients in 25 years of genetic diagnostics.

PMID 10980579 2000 Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study.

PMID 17572159 2008 CFTR mutations in the Algerian population.

PMID 23302613 2012 [Clinical manifestations and gene analysis of 2 Chinese children with cystic fibrosis].

PMID 10453741 1999 Two novel mutations in a cystic fibrosis patient of Chinese origin.

PMID 11158459 2001 Comprehensive mutation screening in a cystic fibrosis center.

PMID 22483971 2012 Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens.

PMID 1990834 1991 Two frameshift mutations in the cystic fibrosis gene.

PMID 1371265 1992 A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A----G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene.

PMID 17825628 2008 Estimating the age of CFTR mutations predominantly found in Brittany (Western France).

PMID 28546993 2017 Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.

PMID 7504970 1993 Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene.

PMID 15130785 2004 Maximization of the rate of chloride conduction in the CFTR channel pore by ion-ion interactions.

PMID 17673962 2007 Direct and indirect effects of mutations at the outer mouth of the cystic fibrosis transmembrane conductance regulator chloride channel pore.

PMID 19236881 2009 Membrane-integration characteristics of two ABC transporters, CFTR and P-glycoprotein.

PMID 12679372 2003 Molecular determinants and role of an anion binding site in the external mouth of the CFTR chloride channel pore.

PMID 10562541 1999 An unstable transmembrane segment in the cystic fibrosis transmembrane conductance regulator.

PMID 1376017 1992 Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.

PMID 9254864 1997 Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities.

PMID 7691352 1993 Single-stranded conformation polymorphism analysis of the CFTR gene in Slovenian cystic fibrosis patients: detection of mutations and sequence variations.

PMID 25066652 2014 Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions.

PMID 7477025 1995 Identification of two novel mutations (296 + 1G-C and A46D) in exon 2 of the CFTR gene in Greek cystic fibrosis patients.

PMID 25735457 2016 Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations.

PMID 24816901 2014 Aspirated bile: a major host trigger modulating respiratory pathogen colonisation in cystic fibrosis patients.

PMID 23924900 2013 VX-809 corrects folding defects in cystic fibrosis transmembrane conductance regulator protein through action on membrane-spanning domain 1.

PMID 26651825 2015 Clinical implications and characterization of Group A Streptoccoccus infections in adults with cystic fibrosis.

PMID 22608296 2012 Blood basophils from cystic fibrosis patients with allergic bronchopulmonary aspergillosis are primed and hyper-responsive to stimulation by aspergillus allergens.

PMID 7534040 1995 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.

PMID 25122143 2015 Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy.

PMID 9853928 1998 Genotype-phenotype association in infants with cystic fibrosis at the time of diagnosis.

PMID 15853950 2005 Time course of antibody response to recombinant Aspergillus fumigatus antigens in cystic fibrosis with and without ABPA.

PMID 15008989 2004 Dysregulation of IL-2 and IL-8 production in circulating T lymphocytes from young cystic fibrosis patients.

PMID 19369536 2009 Bulgarian cystic fibrosis Pseudomonas aeruginosa isolates: antimicrobial susceptibility and neuraminidase-encoding gene distribution.

PMID 1284538 1992 Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes.

PMID 18178635 2008 Diversity of the basic defect of homozygous CFTR mutation genotypes in humans.

PMID 21317048 2011 Splicing defects in the CFTR gene: minigene analysis of two mutations, 1811+1G>C and 1898+3A>G.

PMID 22362925 2012 An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects.

PMID 20920895 2011 Abnormal electrochemical skin conductance in cystic fibrosis.

PMID 9298826 1997 Two novel frameshift deletions (1924del7, 2055del9-->A) in the CFTR gene in Mexican cystic fibrosis patients.

PMID 20100616 2010 Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens.

PMID 29178639 2017 Spectrum of CFTR gene mutations in Ecuadorian cystic fibrosis patients: the second report of the p.H609R mutation.

PMID 14685937 2004 Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.

PMID 19457724 2009 CFTR H609R mutation in Ecuadorian patients with cystic fibrosis.

PMID 12938099 2003 CFTR mutations in patients from Colombia: implications for local and regional molecular diagnosis programs.

PMID 11883825 2002 Genetic and clinical features of false-negative infants in a neonatal screening programme for cystic fibrosis.

PMID 7689898 1993 Identification of three rare frameshift mutations in exon 13 of the cystic fibrosis gene: 1918delGC, 2118del4 and 2372del8.

PMID 20714932 2010 Initial evaluation of a biochemical cystic fibrosis newborn screening by sequential analysis of immunoreactive trypsinogen and pancreatitis-associated protein (IRT/PAP) as a strategy that does not involve DNA testing in a Northern European population.

PMID 9101301 1997 Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and delta M1140.

PMID 7527269 1994 A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin.

PMID 7538127 1995 Alternate translation initiation codons can create functional forms of cystic fibrosis transmembrane conductance regulator.

PMID 7505689 1993 Direct sequencing of the complete CFTR gene: the molecular characterisation of 99.5% of CF chromosomes in Wales.

PMID 19910674 2009 Deletion of CFTR translation start site reveals functional isoforms of the protein in CF patients.

PMID 22490504 2012 A Chinese girl with cystic fibrosis: a case report identified by sweat and genetic tests.

PMID 9620832 1998 Cystic fibrosis mutation screening in CBAVD patients and men with obstructive azoospermia or severe oligozoospermia.

PMID 20949073 2010 We identified such a mechanism as the origin of the mild to asymptomatic phenotype observed in cystic fibrosis patients homozygous for the E831X mutation (2623G>T) in the CFTR gene.

PMID 1284542 1992 Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome.

PMID 18955805 2008 Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis.

PMID 23168765 2012 Effect of maternal cystic fibrosis genotype on diabetes in pregnancy.

PMID 20144563 2010 Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells.

PMID 11101688 2000 Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations.

PMID 18195584 2008 Making the diagnosis of cystic fibrosis.

PMID 7526927 1994 Identification of the L927P and delta L1260 mutations in the CFTR gene.

PMID 25826586 2015 Genotypes and phenotypes in cystic fibrosis and cystic fibrosis transmembrane regulator-related disorders.

PMID 23727931 2013 A functional CFTR assay using primary cystic fibrosis intestinal organoids.

PMID 8910333 1996 To examine the contribution of the large cytoplasmic loops of the cystic fibrosis transmembrane conductance regulator (CFTR) to channel activity, the three point-mutations (S945L, H949Y, G970R) were characterized that have been detected in the third cytoplasmic loop (CL3, residues 933-990) in patients with cystic fibrosis.

PMID 7530553 1994 Identification of two novel mutations in the CFTR gene: 3007 del G and 3271 + 1 G-->A.

PMID 8910333 1996 To examine the contribution of the large cytoplasmic loops of the cystic fibrosis transmembrane conductance regulator (CFTR) to channel activity, the three point-mutations (S945L, H949Y, G970R) were characterized that have been detected in the third cytoplasmic loop (CL3, residues 933-990) in patients with cystic fibrosis.

PMID 25674778 2016 Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.

PMID 12357328 2002 Demographics of the UK cystic fibrosis population: implications for neonatal screening.

PMID 9482579 1998 Combined SSCP/Heteroduplex analysis, DGGE, and direct DNA cycle sequencing revealed five novel mutations: Y569D, Q98X, 296+12(T>C), 1161delC, and 621+2(T>C), which appear to be specific to Pakistani CF families.

PMID 19652440 2009 Case 2; a 13-year-old woman born of consanguineous parents was diagnosed as CF with homozygous Q98R mutations in exon 4.

PMID 16778407 2006 Upon mutation analysis, two different mutations (Q98R and Q220X) were identified in the cystic fibrosis transmembrane conductance regulator gene, both of which had been previously detected in CF patients, one from France and the other from England.

PMID 21779199 2011 In an analysis of 9 Korean CF patients that included the 2 patients presented in this study, p.Q98R mutation was the only recurrently observed mutation with a frequency of 18.8% (3/16 alleles).

PMID 7581407 1995 Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult.

PMID 20932506 2010 Focus on cystic fibrosis and other disorders evidenced in fetuses with sonographic finding of echogenic bowel: 16-year report from Brittany, France.

PMID 21514289 2011 Implementation of the first worldwide quality assurance program for cystic fibrosis multiple mutation detection in population-based screening.

PMID 19265749 2009 Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel.

PMID 16596947 2005 Spectrum of CFTR mutations on Réunion Island: impact on neonatal screening.

PMID 22299590 2012 Mutation analysis of the CFTR gene in 225 children: identification of five novel severe and seven reported severe mutations.

PMID 17968998 2007 Partial splenectomy for portal hypertension in cystic fibrosis related liver disease.

PMID 10922396 2000 Distribution of CFTR gene mutations in cystic fibrosis patients from Estonia.

PMID 15772171 2005 Pancreatitis among patients with cystic fibrosis: correlation with pancreatic status and genotype.

PMID 12544470 2003 Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test.

PMID 15025720 2004 Novel CFTR mutations in black cystic fibrosis patients.

PMID 26208274 2015 Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations in a Cohort of Patients Residing in Palestine.

PMID 27145507 2016 High ambient temperature and risk of intestinal obstruction in cystic fibrosis.

PMID 27086061 2017 CFTR and/or pancreatitis susceptibility genes mutations as risk factors of pancreatitis in cystic fibrosis patients?

PMID 20031113 2010 Hypochloremia and hyponatremia as the initial presentation of cystic fibrosis in three adults.

PMID 8680406 1995 Cystic fibrosis mutation analysis: report from 22 U.K. regional genetics laboratories.

PMID 9554753 1998 Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.

PMID 27022295 2016 Analysis of the CFTR gene in Venezuelan cystic fibrosis patients, identification of six novel cystic fibrosis-causing genetic variants.

PMID 10439967 1999 Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease.

PMID 17095337 2006 Genetic and physiologic correlates of longitudinal immunoreactive trypsinogen decline in infants with cystic fibrosis identified through newborn screening.

PMID 26160248 2015 Exogenous and endogenous determinants of vitamin K status in cystic fibrosis.

PMID 25583415 2015 Clinical expression of patients with the D1152H CFTR mutation.

PMID 7689013 1993 A comprehensive CFTR mutation analysis of German cystic fibrosis patients.

PMID 20522854 2010 Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis.

PMID 23082198 2012 Measurements of CFTR-mediated Cl- secretion in human rectal biopsies constitute a robust biomarker for Cystic Fibrosis diagnosis and prognosis.

PMID 20659818 2010 A high frequency of the Cystic Fibrosis 2184insA mutation in Western Ukraine: genotype-phenotype correlations, relevance for newborn screening and genetic testing.

PMID 9305991 1997 Disease-associated mutations in cytoplasmic loops 1 and 2 of cystic fibrosis transmembrane conductance regulator impede processing or opening of the channel.

PMID 7516305 1994 Identification of three novel mutations (457 TAT-->G, D192G, Q685X) in the Slovenian CF patients.

PMID 24525081 2014 Prediction of acute pancreatitis risk based on PIP score in children with cystic fibrosis.

PMID 7524913 1994 Identification of two new mutations (711 +3A-->G and V1397E) in CF chromosomes of Albanian and Macedonian origin.

PMID 8968585 1996 Human epithelial cystic fibrosis transmembrane conductance regulator without exon 5 maintains partial chloride channel function in intracellular membranes.

PMID 7515303 1994 Identification of rare and novel mutations in the CFTR genes of CF patients in southern England.

PMID 16778407 2006 Upon mutation analysis, two different mutations (Q98R and Q220X) were identified in the cystic fibrosis transmembrane conductance regulator gene, both of which had been previously detected in CF patients, one from France and the other from England.

PMID 19625452 2009 In contrast, misfolding caused by the rare CF-causing mutation V232D in MSD1 was highly correctable by Corr-4a.

PMID 22138447 2012 Corrector-mediated rescue of misprocessed CFTR mutants can be reduced by the P-glycoprotein drug pump.

PMID 25192979 2015 Influence of Pathogenic Mutations on the Energetics of Translocon-Mediated Bilayer Integration of Transmembrane Helices.

PMID 23670503 2013 Diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator gene in patients suspected of having mild or atypical cystic fibrosis.

PMID 11427889 2001 Interhelical hydrogen bonds in the CFTR membrane domain.

PMID 1284531 1992 G27X: a novel mutation in exon 2 of the CF gene.

PMID 7541510 1995 Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.

PMID 12089190 2002 Development and evaluation of a PCR-based, line probe assay for the detection of 58 alleles in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

PMID 16244288 2005 Characterization of publicly available lymphoblastoid cell lines for disease-associated mutations in 11 genes.

PMID 9950364 1999 Cystic fibrosis carrier frequencies in populations of African origin.

PMID 11471192 2001 Genetic markers of male infertility: Y chromosome microdeletions and cystic fibrosis transmembrane conductance gene mutations.

PMID 20616359 2010 The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.

PMID 26631874 2016 Cystic Fibrosis: A Review of Associated Phenotypes, Use of Molecular Diagnostic Approaches, Genetic Characteristics, Progress, and Dilemmas.

PMID 7521937 1994 A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations.

PMID 20381036 2010 All azoospermic males should be screened for cystic fibrosis mutations before intracytoplasmic sperm injection.

PMID 22768251 2012 Among these mutations, the CF-causing missense mutation G551D-CFTR (approx.

PMID 19734299 2009 We hypothesized that CF patients with the G551D mutation would have less severe disease than F508del homozygotes.

PMID 1379413 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.

PMID 24066763 2013 Ivacaftor in a G551D homozygote with cystic fibrosis.

PMID 8605891 1996 These mutant mice show cystic fibrosis pathology but have a reduced risk of fatal intestinal blockage compared with 'null' mutants, in keeping with the reduced incidence of meconium ileus in G551D patients.

PMID 7493947 1995 Interaction between cystic fibrosis transmembrane conductance regulator and outwardly rectified chloride channels.

PMID 24440239 2014 Spectrum and distribution of CFTR gene mutations in asthma and chronic pancreatitis cases of North Indian population.

PMID 7542778 1995 Two cystic fibrosis transmembrane conductance regulator mutations have different effects on both pulmonary phenotype and regulation of outwardly rectified chloride currents.

PMID 8956039 1996 The three major CF mutations in Northern Ireland are delta F508, G551D, and R117H with respective frequencies of 68.0%, 5.1%, and 4.1%.

PMID 27738188 2017 Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles.

PMID 1284538 1992 Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes.

PMID 1379211 1992 A new mutation (1078delT) in exon 7 of the CFTR gene in a southern French adult with cystic fibrosis.

PMID 30726326 2019 Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil.

PMID 24784896 2014 Prenatal diagnosis for CF using High Resolution Melting Analysis and simultaneous haplotype analysis through QF-PCR.

PMID 19540513 2009 A new cystic fibrosis newborn screening algorithm: IRT/IRT1 upward arrow/DNA.

PMID 1712898 1991 Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2.

PMID 10653145 2000 An interesting fact is that A559T was so far found mostly in CF patients of African-American origin.

PMID 15371903 2005 Together, A559T and 711+5G>A were observed at a detection rate of 3.71% in CF patients and 6.38% in carriers.

PMID 9950364 1999 A further three CFTR mutations, A559T, S1255X, and 444delA, which had been found in African-American CF patients, were not identified in the patients or in over 373 healthy subjects tested.

PMID 7668304 1995 A cystic fibrosis patient who is homozygous for the A559T mutation.

PMID 10425036 1999 Cystic fibrosis patients with the 3272-26A-->G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane.

PMID 17481968 2007 High incidence of the CFTR mutations 3272-26A-->G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A-->G, E588V, and 1671insTATCA).

PMID 12397022 2002 Five percent of normal cystic fibrosis transmembrane conductance regulator mRNA ameliorates the severity of pulmonary disease in cystic fibrosis.

PMID 8698344 1996 Frequencies of cystic fibrosis mutations in the Maine population: high proportion of unknown alleles in individuals of French-Canadian ancestry.

PMID 11168024 2001 Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis.

PMID 1370365 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.

PMID 2210768 1990 Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis.

PMID 2475911 1989 Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

PMID 1721624 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.

PMID 11137998 2001 A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes.

PMID 19359498 2009 Development of genomic reference materials for cystic fibrosis genetic testing.

PMID 21716075 2011 Designing a genome-based HIV incidence assay with high sensitivity and specificity.

PMID 15698945 2004 Genotype-phenotype relationship for five CFTR mutations frequently identified in western France.

PMID 16051530 2005 Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations.

PMID 11788090 2001 Eight mutations with a frequency above 1% (DeltaF508, 394delTT, R117C, 3659delC, E60X, 1112delT, R764X, and 621 + 1G --> T) accounted for 78% of CF chromosomes and have been recommended for inclusion in the CFTR mutation screening panel for molecular diagnosis of CF in this region.

PMID 25636364 2015 Relationship between CFTR and CTRC variants and the clinical phenotype in late-onset cystic fibrosis disease with chronic pancreatitis.

PMID 18449561 2008 Identification of positive charges situated at the outer mouth of the CFTR chloride channel pore.

PMID 11788090 2001 Eight mutations with a frequency above 1% (DeltaF508, 394delTT, R117C, 3659delC, E60X, 1112delT, R764X, and 621 + 1G --> T) accounted for 78% of CF chromosomes and have been recommended for inclusion in the CFTR mutation screening panel for molecular diagnosis of CF in this region.

PMID 15482777 2004 Two children with mild CF symptoms had DeltaF508 and R117C.

PMID 21783433 2011 A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice.

PMID 7529962 1995 Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.

PMID 19092437 2008 Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.

PMID 11491162 2001 High morbidity and mortality in cystic fibrosis patients compound heterozygous for 3905insT and deltaF508.

PMID 8535440 1995 We report here a group of 19 CF patients with the R347P mutation of German, Bulgarian, Czech, and Slovak origin, including two homozygotes.

PMID 20448091 2010 Effects of gender and age at diagnosis on disease progression in long-term survivors of cystic fibrosis.

PMID 16488363 2006 Delayed diagnosis of females with respiratory presentation of cystic fibrosis did not segregate with poorer clinical outcome.

PMID 10909845 2000 Molecular basis of hereditary pancreatitis.

PMID 10341008 1999 Screening for cystic fibrosis transmembrane conductance regulator gene mutations in men included in an intracytoplasmic sperm injection programme.

PMID 10653141 2000 Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens.

PMID 10103316 1999 In this report, we present an asymptomatic infant, seen for a second opinion, who was given the diagnosis of cystic fibrosis (CF) as a neonate based on the presence of two mutant alleles, DeltaF508 and R117H.

PMID 17015492 2006 Since our screening protocol has enabled detection of R117H (ie, in 1995), 360466 newborns have been screened for cystic fibrosis in Brittany, of whom 124 had elevated immunoreactive trypsin and 2 mutations in the CFTR gene.

PMID 9950763 1999 Adenosine and its nucleotides activate wild-type and R117H CFTR through an A2B receptor-coupled pathway.

PMID 9259194 1997 In summary, the 5T allele was not found in cis with CF-causing mutations besides R117H, but an elevated 5T allele frequency in variant CF patients suggests 5T may be associated with disease in some situations.

PMID 15246977 2004 Role of Cftr genotype in the response to chronic Pseudomonas aeruginosa lung infection in mice.

PMID 11737931 2001 'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations.

PMID 9557894 1998 Heterogeneity in hereditary pancreatitis.

PMID 8825927 1995 The Irish cystic fibrosis database.

PMID 7692051 1993 Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H.

PMID 9550361 1998 The incidence of cystic fibrosis in Scotland calculated from heterozygote frequencies.

PMID 7544788 1995 Because PPi stimulated wild-type channels, we tested its effect on CFTR containing the cystic fibrosis mutations: delta F508, R117H, and G551S.PPi stimulated all three.

PMID 7522329 1994 Phosphatase inhibitors activate normal and defective CFTR chloride channels.

PMID 7680769 1993 Our results also suggest why R117H, R334W and R347P produce less severe clinical disease and have implications for our understanding of cystic fibrosis.

PMID 11491164 2001 Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C.

PMID 7599637 1995 A single-tube multiplex system for the simultaneous detection of 10 common cystic fibrosis mutations.

PMID 7520798 1994 Two novel mutations in the CFTR gene: W1089X in exon 17B and 4010delTATT in exon 21.

PMID 20110398 2010 Identification of a novel water-soluble activator of wild-type and F508del CFTR: GPact-11a.

PMID 10517260 1999 A Japanese patient homozygous for the H1085R mutation in the CFTR gene presents with a severe form of cystic fibrosis.

PMID 10515411 1999 Distinct sputum cytokine profiles in cystic fibrosis and other chronic inflammatory airway disease.

PMID 15141088 2004 Rescuing cystic fibrosis transmembrane conductance regulator (CFTR)-processing mutants by transcomplementation.

PMID 8702904 1996 Effect of cystic fibrosis-associated mutations in the fourth intracellular loop of cystic fibrosis transmembrane conductance regulator.

PMID 7504969 1993 Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes.

PMID 8844211 1996 Here, we describe a three-generation CF family with a complex CFTR allele that has not been previously described, containing the missense mutation R334W in exon 7 and the nonsense mutation R1158X in exon 19.

PMID 21811577 2011 Defective CFTR expression and function are detectable in blood monocytes: development of a new blood test for cystic fibrosis.

PMID 7513293 1994 Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes.

PMID 10777368 2000 Correlation between mutations and age in cystic fibrosis in a French Canadian population.

PMID 25799511 2015 Rescue of NBD2 mutants N1303K and S1235R of CFTR by small-molecule correctors and transcomplementation.

PMID 1998343 1991 A mutation in the second nucleotide binding fold of the cystic fibrosis gene.

PMID 1380943 1992 N1303K, identified on 216 of nearly 15,000 CF chromosomes tested, accounts for 1.5% of all CF chromosomes.

PMID 1284639 1992 Detection of over 98% cystic fibrosis mutations in a Celtic population.

rs4148689 in CFTR gene and Gout

PMID 22179738 2012 Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.

rs1800076 in CFTR gene and Hereditary pancreatitis

PMID 20977904 2011 Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis.

rs191456345 in CFTR gene and VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF

PMID 28785019 2017 Correction of CFTR function in nasal epithelial cells from cystic fibrosis patients predicts improvement of respiratory function by CFTR modulators.

PMID 17413420 2007 Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens.

PMID 23687349 2013 Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR.

PMID 9305991 1997 Disease-associated mutations in cytoplasmic loops 1 and 2 of cystic fibrosis transmembrane conductance regulator impede processing or opening of the channel.

PMID 9239681 1996 Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens.

PMID 22483971 2012 Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens.

PMID 28830496 2017 What can the CF registry tell us about rare CFTR-mutations? A Belgian study.

PMID 7739684 1995 Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.

PMID 16196493 2006 Rescue of DeltaF508 and other misprocessed CFTR mutants by a novel quinazoline compound.

PMID 7529962 1995 Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.

PMID 23104983 2013 Correctors of ΔF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein.

PMID 15097853 2004 Different CFTR mutational spectrum in alcoholic and idiopathic chronic pancreatitis?

PMID 25033378 2014 Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis.

PMID 19810821 2009 The p.Arg258Gly mutation in intracellular loop 2 of CFTR is associated with CFTR-related disorders.

PMID 19812525 2010 Independent contribution of common CFTR variants to chronic pancreatitis.

PMID 10376575 1999 Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia.

PMID 25735457 2016 Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations.

PMID 26003066 2015 Diagnosing cystic fibrosis in newborn screening in Poland - 15 years of experience.

PMID 18685558 2009 Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.

PMID 17175965 2006 [Role of deep seminal tract imaging in the diagnosis of unilateral agenesis of the vas deferens. Case report of a patient with CFTR gene mutation].

PMID 17329263 2007 Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.

PMID 27264265 2016 Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.

PMID 20059485 2010 Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

PMID 9272157 1997 Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.

PMID 17507277 2007 [Unilateral partial deferential agenesia and CFTR gene composite heterozygoty (deltaF508/V938G)].

PMID 10755189 2000 CFTR gene mutations and male infertility.

PMID 15121783 2004 Genetic evidence for CFTR dysfunction in Japanese: background for chronic pancreatitis.

PMID 11118444 2001 Two mild cystic fibrosis-associated mutations result in severe cystic fibrosis when combined in cis and reveal a residue important for cystic fibrosis transmembrane conductance regulator processing and function.

PMID 15537723 2004 First study of CF mutations in the CFTR gene of Iranian patients: detection of DeltaF508, G542X, W1282X, A120T, R117H, and R347H mutations.

PMID 21483833 2011 COMMD1-mediated ubiquitination regulates CFTR trafficking.

PMID 12940920 2003 The phenotypic consequences of CFTR mutations.

PMID 15084988 2004 A finger sweat chloride test for the detection of a high-risk group of chronic pancreatitis.

PMID 20932301 2010 Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients.

PMID 9550362 1998 Severe cystic fibrosis associated with a deltaF508/R347H + D979A compound heterozygous genotype.

PMID 16840743 2006 Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials.

PMID 19166122 2008 Phenotype and genotype of two Taiwanese cystic fibrosis siblings and a survey of delta F508 in East Asians.

PMID 15744523 2005 A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype.

PMID 24697796 2014 Does integration of various ion channel measurements improve diagnostic performance in cystic fibrosis?