Identification of the cystic fibrosis gene: genetic analysis.
paper
Cited
Public
Unavailable
- Authors
- Kerem, B; Rommens, J M; Buchanan, J A; Markiewicz, D; Cox, T K; Chakravarti, A; Buchwald, M; Tsui, L C
- Year
- 1989
- Journal
- Science (New York, N.Y.)
- PMID
- 2570460
- DOI
- 10.1126/science.2570460
Approximately 70 percent of the mutations in cystic fibrosis patients correspond to a specific deletion of three base pairs, which results in the loss of a phenylalanine residue at amino acid position 508 of the putative product of the cystic fibrosis gene. Extended haplotype data based on DNA markers closely linked to the putative disease gene locus suggest that the remainder of the cystic fibrosis mutant gene pool consists of multiple, different mutations. A small set of these latter mutant alleles (about 8 percent) may confer residual pancreatic exocrine function in a subgroup of patients who are pancreatic sufficient. The ability to detect mutations in the cystic fibrosis gene at the DNA level has important implications for genetic diagnosis.
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| Fine characterization of the recurrent c.1584+18672A>G deep-intronic mutation in the cystic fibrosis transmembrane conductance regulator gene. | Costantino L et al. | β | 2013 | β |
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| piggyBac as a high-capacity transgenesis and gene-therapy vector in human cells and mice. | Li R et al. | β | 2013 | β |
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| The cystic fibrosis of exocrine pancreas. | Wilschanski M et al. | β | 2013 | β |
| The predictive potential of the sweat chloride test in cystic fibrosis patients with the G551D mutation. | Seliger VI et al. | β | 2013 | β |
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| A review of pathophysiology and management of fetuses and neonates with meconium ileus for the pediatric surgeon. | Carlyle BE et al. | β | 2012 | β |
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| Comparative processing and function of human and ferret cystic fibrosis transmembrane conductance regulator. | Fisher JT et al. | β | 2012 | β |
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| Epigenetics: a new link toward understanding human disease and drug response. | Cressman AM et al. | β | 2012 | β |
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| Future directions in early cystic fibrosis lung disease research: an NHLBI workshop report. | Ramsey BW et al. | β | 2012 | β |
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| Haplotype Analysis and Linkage Disequilibrium at Five Loci in Eragrostis tef. | Smith SM et al. | β | 2012 | β |
| Impact of IVS8-(TG)m(T)n on IRT and sweat chloride levels in newborns identified by California CF newborn screening. | Keiles S et al. | β | 2012 | β |
| Insights into Assessing the Genetics of Endometriosis. | Rahmioglu N et al. | β | 2012 | β |
| In vitro evaluation of tobramycin and aztreonam versus Pseudomonas aeruginosa biofilms on cystic fibrosis-derived human airway epithelial cells. | Yu Q et al. | β | 2012 | β |
| Ion channel associated diseases: overview of molecular mechanisms. | Zaydman MA et al. | β | 2012 | β |
| Ivacaftor in subjects with cystic fibrosis who are homozygous for the F508del-CFTR mutation. | Flume PA et al. | β | 2012 | β |
| Manipulation of Cell Physiology Enables Gene Silencing in Well-differentiated Airway Epithelia. | Krishnamurthy S et al. | β | 2012 | β |
| mCLCA3 does not contribute to calcium-activated chloride conductance in murine airways. | Mundhenk L et al. | β | 2012 | β |
| Measurements of CFTR-mediated Cl- secretion in human rectal biopsies constitute a robust biomarker for Cystic Fibrosis diagnosis and prognosis. | Sousa M et al. | β | 2012 | β |
| Mechanisms of ATP release and signalling in the blood vessel wall. | Lohman AW et al. | β | 2012 | β |
| Molecular Chaperones as Targets to Circumvent the CFTR Defect in Cystic Fibrosis. | Chanoux RA et al. | β | 2012 | β |
| Molecular mechanism of pancreatic and salivary gland fluid and HCO3 secretion. | Lee MG et al. | β | 2012 | β |
| Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis. | Sun L et al. | β | 2012 | β |
| Mutation analysis of the CFTR gene in 225 children: identification of five novel severe and seven reported severe mutations. | Sachdeva K et al. | β | 2012 | β |
| Nonimmediate Ξ²-lactam reactions in patients with cystic fibrosis. | Whitaker P et al. | β | 2012 | β |
| One thing leads to another: the cascade of obligations when researchers report genetic research results to study participants. | Miller FA et al. | β | 2012 | β |
| On the statistical properties of family-based association tests in datasets containing both pedigrees and unrelated case-control samples. | Hiekkalinna T et al. | β | 2012 | β |
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| PDE5 Inhibitors as Potential Tools in the Treatment of Cystic Fibrosis. | Noel S et al. | β | 2012 | β |
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| Predicting the functional effect of amino acid substitutions and indels. | Choi Y et al. | β | 2012 | β |
| Proteolytic regulation of alginate overproduction in Pseudomonas aeruginosa. | Damron FH et al. | β | 2012 | β |
| Proteomic identification of calumenin as a G551D-CFTR associated protein. | Teng L et al. | β | 2012 | β |
| Regulation of transport in the connecting tubule and cortical collecting duct. | Staruschenko A | β | 2012 | β |
| Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation. | Clancy JP et al. | β | 2012 | β |
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| State of progress in treating cystic fibrosis respiratory disease. | Flume PA et al. | β | 2012 | β |
| Structural basis for misfolding at a disease phenotypic position in CFTR: comparison of TM3/4 helix-loop-helix constructs with TM4 peptides. | Mulvihill CM et al. | β | 2012 | β |
| The emerging importance of autophagy in pulmonary diseases. | Mizumura K et al. | β | 2012 | β |
| The F508del mutation in cystic fibrosis transmembrane conductance regulator gene impacts bone formation. | Le Henaff C et al. | β | 2012 | β |
| The ΞF508-CFTR mutation inhibits wild-type CFTR processing and function when co-expressed in human airway epithelia and in mouse nasal mucosa. | Tucker TA et al. | β | 2012 | β |
| Toll-like receptors in the host defense against Pseudomonas aeruginosa respiratory infection and cystic fibrosis. | McIsaac SM et al. | β | 2012 | β |
| Transcriptional basis for hepatic fibrosis in cystic fibrosis-associated liver disease. | Pereira TN et al. | β | 2012 | β |
| Transcriptional targeting in the airway using novel gene regulatory elements. | Burnight ER et al. | β | 2012 | β |
| Transepithelial bicarbonate secretion: lessons from the pancreas. | Park HW et al. | β | 2012 | β |
| Ursodeoxycholate modulates bile flow and bile salt pool independently from the cystic fibrosis transmembrane regulator (Cftr) in mice. | Bodewes FA et al. | β | 2012 | β |
| Use of kinase inhibitors to correct ΞF508-CFTR function. | Trzcinska-Daneluti AM et al. | β | 2012 | β |
| Using genomic data to make indirect (and unauthorized) estimates of disease risk. | Nyholt DR | β | 2012 | β |
| Variation in MSRA modifies risk of neonatal intestinal obstruction in cystic fibrosis. | Henderson LB et al. | β | 2012 | β |
| WinHAP: an efficient haplotype phasing algorithm based on scalable sliding windows. | Xu Y et al. | β | 2012 | β |
| A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. | Ramsey BW et al. | β | 2011 | β |
| Acute intratracheal Pseudomonas aeruginosa infection in cystic fibrosis mice is age-independent. | Munder A et al. | β | 2011 | β |
| Alteration of CFTR transmembrane span integration by disease-causing mutations. | Patrick AE et al. | β | 2011 | β |
| A small molecule that binds to an ATPase domain of Hsc70 promotes membrane trafficking of mutant cystic fibrosis transmembrane conductance regulator. | Cho HJ et al. | β | 2011 | β |
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| Association between genotype and pulmonary phenotype in cystic fibrosis patients with severe mutations. | Geborek A et al. | β | 2011 | β |
| Can we make assumptions about the psychosocial impact of living as a carrier, based on studies assessing the effects of carrier testing? | Lewis C et al. | β | 2011 | β |
| CFTR and Ca Signaling in Cystic Fibrosis. | Antigny F et al. | β | 2011 | β |
| CFTR expression analysis in human nasal epithelial cells by flow cytometry. | van Meegen MA et al. | β | 2011 | β |
| CFTR expression regulation by the unfolded protein response. | Bartoszewski R et al. | β | 2011 | β |
| Cross-sectional and longitudinal comparisons of the predominant fecal microbiota compositions of a group of pediatric patients with cystic fibrosis and their healthy siblings. | Duytschaever G et al. | β | 2011 | β |
| Cystic fibrosis lung transplantation. | Braun AT et al. | β | 2011 | β |
| Cystic fibrosis Ξf508 mutation screening in Brazilian women with altered fertility. | Brunoro GV et al. | β | 2011 | β |
| Detection of three-base deletion by exciplex formation with perylene derivatives. | Kashida H et al. | β | 2011 | β |
| Differential adaptation of microbial pathogens to airways of patients with cystic fibrosis and chronic obstructive pulmonary disease. | DΓΆring G et al. | β | 2011 | β |
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| Genetic modification of airway progenitors after lentiviral gene delivery to the amniotic fluid of murine fetuses. | Mishra S et al. | β | 2011 | β |
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| Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis. | Jung H et al. | β | 2011 | β |
| Human cysteine cathepsins are not reliable markers of infection by Pseudomonas aeruginosa in cystic fibrosis. | Naudin C et al. | β | 2011 | β |
| Increased elongase 6 and Ξ9-desaturase activity are associated with n-7 and n-9 fatty acid changes in cystic fibrosis. | Thomsen KF et al. | β | 2011 | β |
| Increased Ξ5- and Ξ6-desaturase, cyclooxygenase-2, and lipoxygenase-5 expression and activity are associated with fatty acid and eicosanoid changes in cystic fibrosis. | Njoroge SW et al. | β | 2011 | β |
| Insights into the mechanisms underlying CFTR channel activity, the molecular basis for cystic fibrosis and strategies for therapy. | Kim Chiaw P et al. | β | 2011 | β |
| Intracellular rescue of the uroporphyrinogen III synthase activity in enzymes carrying the hotspot mutation C73R. | Fortian A et al. | β | 2011 | β |
| In vitro activities of the novel ceragenin CSA-13, alone or in combination with colistin, tobramycin, and ciprofloxacin, against Pseudomonas aeruginosa strains isolated from cystic fibrosis patients. | Bozkurt-Guzel C et al. | β | 2011 | β |
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| Overcoming hysteresis to attain reversible equilibrium folding for outer membrane phospholipase A in phospholipid bilayers. | Moon CP et al. | β | 2011 | β |
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| Spectrum of CFTR gene mutations in Iranian Azeri Turkish patients with cystic fibrosis. | Bonyadi M et al. | β | 2011 | β |
| Stimulation of Airway and Intestinal Mucosal Secretion by Natural Coumarin CFTR Activators. | Yang H et al. | β | 2011 | β |
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| Synthesis and properties of molecular probes for the rescue site on mutant cystic fibrosis transmembrane conductance regulator. | Alkhouri B et al. | β | 2011 | β |
| The K+ channel opener 1-EBIO potentiates residual function of mutant CFTR in rectal biopsies from cystic fibrosis patients. | Roth EK et al. | β | 2011 | β |
| The potential for misusing "genetic predisposition" in Canadian courts and tribunals. | Mykitiuk R et al. | β | 2011 | β |
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