Compounds > phenylalanine

phenylalanine and Cystic Fibrosis

phenylalanine has been researched along with Cystic Fibrosis in 53 studies

Research

Studies (53)

TimeframeStudies, this research(%)All Research%
pre-19909 (16.98)18.7374
1990's13 (24.53)18.2507
2000's10 (18.87)29.6817
2010's17 (32.08)24.3611
2020's4 (7.55)2.80

Authors

AuthorsStudies
Baroni, D; Brandas, C; Cichero, E; Ludovico, A; Millo, E; Moran, O; Parodi, A1
Baroni, D; Ludovico, A; Moran, O1
Chen, J; Fiedorczuk, K1
Aissat, A; Bizard, L; Decrouy, X; Degrugillier, F; Fanen, P; Jiang, C; Prulière-Escabasse, V; Rotin, D; Simon, S; Simonneau, B1
Baatallah, N; Bitam, S; Callebaut, I; Chevalier, B; Costes, B; Edelman, A; Fanen, P; Girodon, E; Hinzpeter, A; Hoffmann, B; Martin, N; Mekki, C; Mornon, JP; Pranke, I; Sermet-Gaudelus, I; Servel, N; Simonin, J1
Fischer, DF; Foo, CJ; Garratt, LW; Janssen, RA; Kicic, A; Looi, K; Scaffidi, A; Stick, SM; Sutanto, EN; Tessari, MA1
Bear, CE; Casavola, V; Laselva, O; Molinski, S1
Armirotti, A; Caci, E; Cavalli, A; Falchi, F; Ferrera, L; Giacomini, E; Goldoni, L; Mandrup Bertozzi, S; Pedemonte, N; Pesce, E; Ravazzolo, R; Sondo, E; Tomati, V1
Kitoko, JZ; Lopes-Pacheco, M; Morales, MM; Petrs-Silva, H; Rocco, PRM1
Li, C; Wang, XR1
Jeon, DK; Jo, S; Khloya, P; Kumar, S; Lee, HK; Namkung, W; Park, J; Seo, Y; Sharma, PK1
Cardona, ST; Lightly, TJ; Phung, RR; Sorensen, JL1
Alcolado, N; Becq, F; Chappe, F; Chappe, V; Norez, C; Pelzer, S; Rafferty, S1
Cassidy, A; Cassidy, D; Colledge, WH; Goddard, C; Mehta, A; Treharne, KJ1
Bear, CE; Huan, LJ; Kim Chiaw, P; Ramjeesingh, M; Wellhauser, L1
Du, K; Fischman, S; Kirk, K; Lukacs, GL; Mendoza, JL; Millen, L; Richardson, JM; Senderowitz, H; Thibodeau, PH; Thomas, PJ; Wang, W; Watson, J1
Atwell, S; Brouillette, CG; Emtage, S; Hunt, JF; Protasevich, I; Wang, C; Wetmore, D; Yang, Z; Zhao, X1
Atwell, S; Brouillette, CG; Hunt, JF; Protasevich, I; Seehausen, D; Skalak, T; Spencer Emtage, J; Wang, C; Wetmore, DR; Yang, Z; Zhao, X1
Carlile, GW; Hanrahan, JW; Liao, J; Matthes, E; Robert, R; Sampson, HM; Thomas, DY1
Cao, A; Carta, D; Coiana, A; Faa', V; Puddu, R; Rosatelli, MC1
Bompadre, SG; Hwang, TC; Jih, KY; Li, M1
Bloodworth, RA; Butcher, H; Cardona, ST; Hammond, SA; Mark, BL; McClarty, L; Yudistira, H1
Knapp, JM; Kurth, MJ; Lukacs, GL; Phuan, PW; Verkman, AS; Wood, AB; Yang, B1
Du, K; Folli, C; Galietta, LJ; Gopinath, VS; Guy, RK; Lukacs, GL; Ma, T; Pedemonte, N; Shelat, AA; Taddei, A; Verkman, AS; Yang, H1
Amaral, MD; Carvalho-Oliveira, I; Efthymiadou, A; Kanavakis, E; Malhó, R; Nogueira, P; Penque, D; Tzetis, M1
Du, K; Lukacs, GL; Sharma, M1
Aleksandrov, AA; Aleksandrov, L; Chen, JH; Cui, L; Gentzsch, M; Hou, YX; Riordan, JR1
Bán, Z; Lázár, L; Nagy, B; Nagy, GR; Papp, Z1
Dong, Q; Karp, PH; Ostedgaard, LS; Randak, CO; Rogers, CS; Rokhlina, T; Vermeer, DW; Welsh, MJ1
Brown, DA; Connelly, J; Francis, I; Hancock, J; Hill, G; Masters, P; McFarlane, J; Pitt, D; Raby, J; Robertson, E; Tucker, RG; Wilcken, B1
Bear, CE; Chang, X; Jensen, T; Li, C; Ramjeesingh, M; Reyes, E; Rommens, JM1
Kaplan, TA; McKey, RM; Moccia-Loos, G; Rabin, M1
Kartner, N; Lukacs, GL; Zhang, F1
Abreu-e-Silva, FA; Maróstica, PJ; Raskin, S1
Ao, A; Handyside, AH; Ray, PF; Taylor, DM; Winston, RM1
Hu, S; Hwang, TC; Wang, F; Zeltwanger, S1
Bartlett, MC; Clarke, DM; Loo, TW1
Knapp, A1
Bonin, A; Lasalle, R; Morin, CL; Roy, CC1
Hartman, J; Huang, Z; Jilling, T; Muccio, DD; Peng, S; Rado, TA; Sorscher, EJ1
Shaefer, F; Whetsell, L1
Coucke, P; Dumon, J; Hendrickx, J; Stuer, K; van der Auwera, BJ; Van Elsen, A; van Schil, L; Vits, L; Wauters, JG; Willems, PJ1
Graham, A; Heptinstall, LE; Markham, AF; Newton, CR; Schwarz, M; Smith, JC; Summers, C; Super, M1
Bhattacharya, SS; Burn, J; Curtis, A; Nelson, R; Porteous, M1
Bueno Sánchez, A; Martínez Valverde, A1
Chong, GL; Farber, R; Highsmith, WE; Knowles, MR; Orr, HT; Perry, TR; Schald, D; Silverman, LM; Wagner, K; Warwick, WJ1
Chong, GL; Thibodeau, SN1
Carey, WF; Pollard, AC1
Brannon, PM; Scott, D1
Raine, DN1
Duran, M; Ketting, D; van der Heiden, C; Wadman, SK; Wauters, EA1
Seakins, JW1

Reviews

2 review(s) available for phenylalanine and Cystic Fibrosis

ArticleYear
Decoding F508del misfolding in cystic fibrosis.
    Biomolecules, 2014, May-06, Volume: 4, Issue:2

    Topics: Animals; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Drug Discovery; Humans; Phenylalanine; Protein Folding; Sequence Deletion

2014
[Genetics of metabolic diseases. Including cystic fibrosis].
    Anales espanoles de pediatria, 1990, Volume: 33 Suppl 42

    Topics: Child; Child, Preschool; Cystic Fibrosis; DNA Mutational Analysis; Female; Humans; Male; Metabolic Diseases; Metabolism, Inborn Errors; Mutation; Phenylalanine; Prenatal Diagnosis

1990

Other Studies

51 other study(ies) available for phenylalanine and Cystic Fibrosis

ArticleYear
NBD2 Is Required for the Rescue of Mutant F508del CFTR by a Thiazole-Based Molecule: A Class II Corrector for the Multi-Drug Therapy of Cystic Fibrosis.
    Biomolecules, 2021, 09-28, Volume: 11, Issue:10

    Topics: Aminopyridines; Benzodioxoles; Cell Membrane; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Epithelial Cells; Gene Expression Regulation; HEK293 Cells; Humans; Mutant Proteins; Phenylalanine; Thiazoles

2021
Modulator Combination Improves In Vitro the Microrheological Properties of the Airway Surface Liquid of Cystic Fibrosis Airway Epithelia.
    International journal of molecular sciences, 2022, Sep-27, Volume: 23, Issue:19

    Topics: Aminophenols; Benzodioxoles; Bicarbonates; Chlorides; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Humans; Mutation; Phenylalanine; Quinolones

2022
Molecular structures reveal synergistic rescue of Δ508 CFTR by Trikafta modulators.
    Science (New York, N.Y.), 2022, 10-21, Volume: 378, Issue:6617

    Topics: Cryoelectron Microscopy; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Drug Synergism; Humans; Phenylalanine; Protein Conformation; Sequence Deletion

2022
Phosphorylation of the Chaperone-Like HspB5 Rescues Trafficking and Function of F508del-CFTR.
    International journal of molecular sciences, 2020, Jul-08, Volume: 21, Issue:14

    Topics: Aminophenols; Aminopyridines; Animals; Benzodioxoles; Cell Line; Cell Membrane; Crystallins; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Drug Combinations; Heat-Shock Proteins; HEK293 Cells; Humans; Male; Mice; Molecular Chaperones; Mutation; Phenylalanine; Phosphorylation; Proteasome Endopeptidase Complex; Protein Transport; Quinolones

2020
Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules.
    Human mutation, 2018, Volume: 39, Issue:4

    Topics: Alleles; Aminophenols; Aminopyridines; Benzodioxoles; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Drug Combinations; Humans; Mutation; Phenylalanine; Quinolones

2018
Assessment of p.Phe508del-CFTR functional restoration in pediatric primary cystic fibrosis airway epithelial cells.
    PloS one, 2018, Volume: 13, Issue:1

    Topics: Adenoviridae; Bronchi; Cells, Cultured; Child; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Epithelial Cells; Genetic Vectors; Humans; Phenylalanine; Protein Transport; Trachea; Transduction, Genetic

2018
Correctors of the Major Cystic Fibrosis Mutant Interact through Membrane-Spanning Domains.
    Molecular pharmacology, 2018, Volume: 93, Issue:6

    Topics: Aminopyridines; Benzamides; Benzodioxoles; Cell Line; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; HEK293 Cells; Humans; Mutation; Phenylalanine; Protein Structure, Tertiary; Thiazoles

2018
Pharmacological Inhibition of the Ubiquitin Ligase RNF5 Rescues F508del-CFTR in Cystic Fibrosis Airway Epithelia.
    Cell chemical biology, 2018, 07-19, Volume: 25, Issue:7

    Topics: Animals; Apoptosis; Benzamidines; Cell Proliferation; Cell Survival; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Disease Models, Animal; DNA-Binding Proteins; Dose-Response Relationship, Drug; Enzyme Inhibitors; Epithelial Cells; Humans; Mice; Models, Molecular; Molecular Structure; Phenylalanine; Structure-Activity Relationship; Thiadiazoles; Ubiquitin-Protein Ligases

2018
Self-complementary and tyrosine-mutant rAAV vectors enhance transduction in cystic fibrosis bronchial epithelial cells.
    Experimental cell research, 2018, 11-15, Volume: 372, Issue:2

    Topics: Amino Acid Substitution; Bronchi; Cystic Fibrosis; Dependovirus; Epithelial Cells; Genetic Therapy; Genetic Vectors; Humans; Mutation; Phenylalanine; Serogroup; Transduction, Genetic; Tyrosine

2018
Potentiation of ΔF508- and G551D-CFTR-Mediated Cl- Current by Novel Hydroxypyrazolines.
    PloS one, 2016, Volume: 11, Issue:2

    Topics: Aminopyridines; Animals; Bacterial Proteins; Benzodioxoles; Cell Line; Cell Line, Tumor; Cell Membrane; Cell Proliferation; Chlorides; Cyclic AMP; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Epithelial Cells; Gene Deletion; Genistein; Humans; Luminescent Proteins; Mutation; Nose; Patch-Clamp Techniques; Phenylalanine; Pyrazoles; Rats; Structure-Activity Relationship; Sulfonamides

2016
Synthetic cystic fibrosis sputum medium diminishes Burkholderia cenocepacia antifungal activity against Aspergillus fumigatus independently of phenylacetic acid production.
    Canadian journal of microbiology, 2017, Volume: 63, Issue:5

    Topics: Antifungal Agents; Aspergillus fumigatus; Base Sequence; Burkholderia cenocepacia; Burkholderia Infections; Culture Media; Cystic Fibrosis; Humans; Phenylacetates; Phenylalanine; Pseudomonas aeruginosa; Sputum

2017
Rescue of functional F508del cystic fibrosis transmembrane conductance regulator by vasoactive intestinal peptide in the human nasal epithelial cell line JME/CF15.
    The Journal of pharmacology and experimental therapeutics, 2009, Volume: 331, Issue:1

    Topics: Cell Line; Cells, Cultured; Cyclic AMP-Dependent Protein Kinases; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Epithelial Cells; Humans; Nasal Mucosa; Phenylalanine; Protein Kinase C; Protein Transport; Sequence Deletion; Signal Transduction; Vasoactive Intestinal Peptide

2009
Epithelial IgG and its relationship to the loss of F508 in the common mutant form of the cystic fibrosis transmembrane conductance regulator.
    FEBS letters, 2009, Aug-06, Volume: 583, Issue:15

    Topics: Amino Acid Sequence; Animals; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Epithelial Cells; Humans; Immunoglobulin G; Mice; Mice, Transgenic; Molecular Sequence Data; Mutation; Peptides; Phenylalanine; Poxviridae; Respiratory Mucosa; Sequence Alignment; Sheep

2009
A chemical corrector modifies the channel function of F508del-CFTR.
    Molecular pharmacology, 2010, Volume: 78, Issue:3

    Topics: Animals; Cricetinae; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Endoplasmic Reticulum; Mutation; Phenylalanine; Piperazines; Protein Transport; Quinazolines; Sequence Deletion

2010
The cystic fibrosis-causing mutation deltaF508 affects multiple steps in cystic fibrosis transmembrane conductance regulator biogenesis.
    The Journal of biological chemistry, 2010, Nov-12, Volume: 285, Issue:46

    Topics: Binding Sites; Blotting, Western; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Endoplasmic Reticulum; HEK293 Cells; Humans; Models, Molecular; Mutation; Phenylalanine; Protein Binding; Protein Folding; Protein Structure, Tertiary; Protein Transport; Sequence Deletion; Suppression, Genetic

2010
Thermal unfolding studies show the disease causing F508del mutation in CFTR thermodynamically destabilizes nucleotide-binding domain 1.
    Protein science : a publication of the Protein Society, 2010, Volume: 19, Issue:10

    Topics: Algorithms; Binding Sites; Calorimetry, Differential Scanning; Circular Dichroism; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Humans; Kinetics; Mutation; Nucleotides; Phenylalanine; Protein Binding; Protein Denaturation; Protein Folding; Protein Stability; Protein Structure, Tertiary; Sequence Deletion; Thermodynamics; Transition Temperature

2010
Integrated biophysical studies implicate partial unfolding of NBD1 of CFTR in the molecular pathogenesis of F508del cystic fibrosis.
    Protein science : a publication of the Protein Society, 2010, Volume: 19, Issue:10

    Topics: Adenosine Triphosphate; Biophysical Phenomena; Circular Dichroism; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Humans; Models, Molecular; Mutation; Phenylalanine; Protein Conformation; Protein Denaturation; Protein Folding; Protein Structure, Tertiary; Sequence Deletion; Solubility; Spectrometry, Fluorescence; Temperature

2010
Identification of a NBD1-binding pharmacological chaperone that corrects the trafficking defect of F508del-CFTR.
    Chemistry & biology, 2011, Feb-25, Volume: 18, Issue:2

    Topics: Animals; Cell Line; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Drug Evaluation, Preclinical; Humans; Hydrazones; Mice; Nucleotides; Phenylalanine; Protein Binding; Protein Stability; Protein Structure, Tertiary; Protein Transport; Respiratory Mucosa; Sequence Deletion; Temperature

2011
Preconceptional identification of cystic fibrosis carriers in the Sardinian population: A pilot screening program.
    Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society, 2011, Volume: 10, Issue:3

    Topics: Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Female; Gene Deletion; Gene Frequency; Genetic Carrier Screening; Genetic Predisposition to Disease; Genetic Testing; Homozygote; Humans; Isoleucine; Italy; Male; Mutation; Phenylalanine; Pilot Projects; Threonine

2011
The most common cystic fibrosis-associated mutation destabilizes the dimeric state of the nucleotide-binding domains of CFTR.
    The Journal of physiology, 2011, Jun-01, Volume: 589, Issue:Pt 11

    Topics: Adenosine Triphosphate; Amino Acid Substitution; Animals; Binding Sites; CHO Cells; Cricetinae; Cricetulus; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Diphosphates; Electrophysiological Phenomena; Humans; Ion Channel Gating; Nucleotides; Patch-Clamp Techniques; Phenylalanine; Protein Binding; Protein Structure, Tertiary; Protein Transport; Sequence Deletion; Transfection

2011
Phenylalanine induces Burkholderia cenocepacia phenylacetic acid catabolism through degradation to phenylacetyl-CoA in synthetic cystic fibrosis sputum medium.
    Microbial pathogenesis, 2011, Volume: 51, Issue:3

    Topics: Acetyl Coenzyme A; Burkholderia cenocepacia; Carbon; Culture Media; Cystic Fibrosis; Gene Expression Regulation, Bacterial; Gene Expression Regulation, Enzymologic; Humans; Phenylacetates; Phenylalanine; Sputum

2011
Cyanoquinolines with independent corrector and potentiator activities restore ΔPhe508-cystic fibrosis transmembrane conductance regulator chloride channel function in cystic fibrosis.
    Molecular pharmacology, 2011, Volume: 80, Issue:4

    Topics: Animals; Cell Line; Chloride Channels; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Humans; Mutation; Phenylalanine; Protein Folding; Quinolines; Rats; Rats, Inbred F344; Structure-Activity Relationship

2011
Nanomolar affinity small molecule correctors of defective Delta F508-CFTR chloride channel gating.
    The Journal of biological chemistry, 2003, Sep-12, Volume: 278, Issue:37

    Topics: Animals; Biological Transport; Cell Line; Colforsin; Cricetinae; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Epithelial Cells; Genistein; Humans; Iodides; Ion Channel Gating; Kinetics; Phenylalanine; Rats; Rats, Inbred F344; Recombinant Proteins; Respiratory Mucosa; Sequence Deletion; Thermodynamics; Thyroid Gland; Transfection

2003
CFTR localization in native airway cells and cell lines expressing wild-type or F508del-CFTR by a panel of different antibodies.
    The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society, 2004, Volume: 52, Issue:2

    Topics: Animals; Antibodies; Cell Line; Cricetinae; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Epithelial Cells; Fluorescent Antibody Technique; Humans; In Vitro Techniques; Nasal Mucosa; Phenylalanine; Reproducibility of Results

2004
The DeltaF508 cystic fibrosis mutation impairs domain-domain interactions and arrests post-translational folding of CFTR.
    Nature structural & molecular biology, 2005, Volume: 12, Issue:1

    Topics: Animals; Binding Sites; Cell Line; Cricetinae; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Humans; Peptide Hydrolases; Phenylalanine; Protein Folding; Protein Processing, Post-Translational; Sequence Deletion

2005
The role of cystic fibrosis transmembrane conductance regulator phenylalanine 508 side chain in ion channel gating.
    The Journal of physiology, 2006, Apr-15, Volume: 572, Issue:Pt 2

    Topics: Action Potentials; Adenosine Triphosphate; Animals; Blotting, Western; Cell Line; Chloride Channels; Cricetinae; Cysteine; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Electrophoresis, Polyacrylamide Gel; Gene Expression Regulation; Hydrolysis; Ion Channel Gating; Microscopy, Fluorescence; Mutation; Phenylalanine; Protein Binding; Protein Structure, Tertiary

2006
[Detection of deltaF508 deletion causing cystic fibrosis, using quantitative real-time PCR].
    Orvosi hetilap, 2006, Jun-18, Volume: 147, Issue:24

    Topics: Adult; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Female; Gene Deletion; Humans; Male; Phenylalanine; Polymerase Chain Reaction

2006
Processing and function of CFTR-DeltaF508 are species-dependent.
    Proceedings of the National Academy of Sciences of the United States of America, 2007, Sep-25, Volume: 104, Issue:39

    Topics: Animals; Biological Transport; Chlorine; Chlorocebus aethiops; COS Cells; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Electrophysiology; Endoplasmic Reticulum; Humans; Mice; Mutation; Phenylalanine; Species Specificity; Swine

2007
Genetic screening of newborn in Australia: results for 1980.
    The Medical journal of Australia, 1982, Feb-06, Volume: 1, Issue:3

    Topics: Australia; Congenital Hypothyroidism; Cystic Fibrosis; Female; Genetic Testing; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias

1982
The cystic fibrosis mutation (delta F508) does not influence the chloride channel activity of CFTR.
    Nature genetics, 1993, Volume: 3, Issue:4

    Topics: Amino Acid Sequence; Animals; Base Sequence; Cell Line; Chloride Channels; CHO Cells; Cricetinae; Cyclic AMP; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Humans; Kinetics; Lipid Bilayers; Membrane Potentials; Membrane Proteins; Molecular Sequence Data; Phenylalanine; Phosphorylation; Protein Folding; Recombinant Proteins; Sequence Deletion; Spodoptera; Transfection

1993
Lack of effect of delta F508 mutation on aerobic capacity in patients with cystic fibrosis.
    Clinical journal of sport medicine : official journal of the Canadian Academy of Sport Medicine, 1996, Volume: 6, Issue:4

    Topics: Adolescent; Body Height; Body Weight; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Energy Metabolism; Exercise Test; Female; Forced Expiratory Volume; Genotype; Heterozygote; Homozygote; Humans; Lung; Male; Maximal Midexpiratory Flow Rate; Mutation; Oxygen Consumption; Peak Expiratory Flow Rate; Phenotype; Phenylalanine; Physical Exertion; Prognosis; Rest; Retrospective Studies; Vital Capacity

1996
Limited proteolysis as a probe for arrested conformational maturation of delta F508 CFTR.
    Nature structural biology, 1998, Volume: 5, Issue:3

    Topics: Animals; CHO Cells; Cricetinae; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Endopeptidases; Humans; Microsomes; Peptide Mapping; Phenylalanine; Protein Conformation; Recombinant Proteins; Sequence Deletion; Transfection

1998
Analysis of the delta F508 mutation in a Brazilian cystic fibrosis population: comparison of pulmonary status of homozygotes with other patients.
    Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas, 1998, Volume: 31, Issue:4

    Topics: Adolescent; Brazil; Child; Child, Preschool; Cross-Sectional Studies; Cystic Fibrosis; Female; Homozygote; Humans; Infant; Logistic Models; Lung; Male; Mutation; Odds Ratio; Phenylalanine; Respiratory Function Tests

1998
Assessment of the reliability of single blastomere analysis for preimplantation diagnosis of the delta F508 deletion causing cystic fibrosis in clinical practice.
    Prenatal diagnosis, 1998, Volume: 18, Issue:13

    Topics: Biopsy; Blastomeres; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Embryonic Development; Female; Gene Deletion; Genotype; Heterozygote; Humans; Phenylalanine; Polymerase Chain Reaction; Pregnancy; Prenatal Diagnosis; Sensitivity and Specificity

1998
Deletion of phenylalanine 508 causes attenuated phosphorylation-dependent activation of CFTR chloride channels.
    The Journal of physiology, 2000, May-01, Volume: 524 Pt 3

    Topics: 3T3 Cells; Adenosine Triphosphate; Animals; Colforsin; Cyclic AMP; Cyclic AMP-Dependent Protein Kinases; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Dose-Response Relationship, Drug; Enzyme Inhibitors; Gene Deletion; Genistein; Ion Channel Gating; Mice; Patch-Clamp Techniques; Phenylalanine; Phosphorylation; Point Mutation; Protein Structure, Tertiary; Thionucleotides

2000
Introduction of the most common cystic fibrosis mutation (Delta F508) into human P-glycoprotein disrupts packing of the transmembrane segments.
    The Journal of biological chemistry, 2002, Aug-02, Volume: 277, Issue:31

    Topics: Amino Acid Substitution; ATP Binding Cassette Transporter, Subfamily B, Member 1; Cell Line; Cell Membrane; Cross-Linking Reagents; Cysteine; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Humans; Mutagenesis; Mutation; Oxidation-Reduction; Phenylalanine; Protein Folding; Recombinant Proteins; Sequence Deletion; Transfection

2002
[Problems and results of screening tests in genetic disorders].
    Zeitschrift fur arztliche Fortbildung, 1978, Jun-15, Volume: 72, Issue:11-12

    Topics: Cystic Fibrosis; Galactosemias; Genetic Diseases, Inborn; Humans; Hypothyroidism; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias; Pilot Projects; Risk

1978
Small bowel mucosal dysfunction in patients with cystic fibrosis.
    The Journal of pediatrics, 1976, Volume: 88, Issue:2

    Topics: Adolescent; Celiac Disease; Child; Child, Preschool; Cycloleucine; Cystic Fibrosis; Dipeptidases; Disaccharidases; Humans; Intestinal Mucosa; Intestine, Small; Lysine; Malabsorption Syndromes; Phenylalanine

1976
Recombinant synthesis, purification, and nucleotide binding characteristics of the first nucleotide binding domain of the cystic fibrosis gene product.
    The Journal of biological chemistry, 1992, Apr-05, Volume: 267, Issue:10

    Topics: Adenosine Triphosphate; Affinity Labels; Azides; Base Sequence; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; DNA; Electrophoresis, Polyacrylamide Gel; Humans; Membrane Proteins; Molecular Sequence Data; Mutation; Nucleotides; Phenylalanine

1992
Method for rapid, single reaction, direct screening of the delta F508 cystic fibrosis microdeletion.
    BioTechniques, 1992, Volume: 12, Issue:5

    Topics: Base Sequence; Chromosome Deletion; Cystic Fibrosis; DNA; Electrophoresis, Polyacrylamide Gel; Molecular Sequence Data; Phenylalanine; Polymerase Chain Reaction

1992
Frequency of the phenylalanine deletion (delta F508) in the CF gene of Belgian cystic fibrosis patients.
    Clinical genetics, 1991, Volume: 39, Issue:2

    Topics: Belgium; Chromosome Deletion; Cystic Fibrosis; Gene Frequency; Haplotypes; Humans; Oligonucleotide Probes; Phenylalanine; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length

1991
Detection of delta F508 deletion by amplification refractory mutation system.
    Lancet (London, England), 1990, May-19, Volume: 335, Issue:8699

    Topics: Chromosome Deletion; Cystic Fibrosis; DNA; DNA Mutational Analysis; Humans; Phenylalanine; Polymerase Chain Reaction

1990
Association of less common cystic fibrosis mutations with a mild phenotype.
    Journal of medical genetics, 1991, Volume: 28, Issue:1

    Topics: Adolescent; Adult; Base Sequence; Chromosome Mapping; Chromosomes, Human, Pair 7; Cystic Fibrosis; DNA; Female; Genotype; Humans; Male; Molecular Sequence Data; Mutation; Nucleic Acid Hybridization; Pedigree; Phenotype; Phenylalanine; Polymerase Chain Reaction

1991
Frequency of the delta Phe508 mutation and correlation with XV.2c/KM-19 haplotypes in an American population of cystic fibrosis patients: results of a collaborative study.
    Clinical chemistry, 1990, Volume: 36, Issue:10

    Topics: Base Sequence; Chromosome Deletion; Cystic Fibrosis; Genetic Carrier Screening; Genotype; Haplotypes; Humans; Molecular Sequence Data; Mutation; Nucleic Acid Probes; Phenotype; Phenylalanine; Polymerase Chain Reaction; Risk

1990
A simple assay for the screening of the cystic fibrosis allele in carriers of the Phe508 deletion mutation.
    Mayo Clinic proceedings, 1990, Volume: 65, Issue:8

    Topics: Alleles; Chromosome Deletion; Cystic Fibrosis; Electrophoresis, Polyacrylamide Gel; Genetic Carrier Screening; Humans; Mass Screening; Mutation; Phenylalanine; Polymerase Chain Reaction

1990
Microvillar enzymes in amniotic fluid. Considerations for the prenatal diagnosis of cystic fibrosis.
    The Medical journal of Australia, 1986, Jan-20, Volume: 144, Issue:2

    Topics: Alkaline Phosphatase; Amniotic Fluid; Congenital Abnormalities; Cystic Fibrosis; Female; Fetal Diseases; gamma-Glutamyltransferase; Homoarginine; Humans; Infant, Newborn; Isoenzymes; Phenylalanine; Pregnancy; Pregnancy Trimester, First; Pregnancy Trimester, Second; Prenatal Diagnosis; Risk

1986
Impairment of pancreatic acinar function by reserpine in vivo and in vitro.
    In vitro cellular & developmental biology : journal of the Tissue Culture Association, 1987, Volume: 23, Issue:6

    Topics: Amylases; Animals; Cells, Cultured; Cystic Fibrosis; Male; Pancreas; Phenylalanine; Rats; Rats, Inbred Strains; Reserpine

1987
Rapid screening for delta F508 deletion in cystic fibrosis.
    Lancet (London, England), 1989, Dec-02, Volume: 2, Issue:8675

    Topics: Amino Acid Sequence; Chromosome Deletion; Cystic Fibrosis; DNA; Gene Amplification; Genes, Regulator; Genetic Testing; Humans; Molecular Sequence Data; Phenylalanine

1989
Inherited metabolic disease.
    Lancet (London, England), 1974, Oct-26, Volume: 2, Issue:7887

    Topics: Albumins; Amino Acid Metabolism, Inborn Errors; Chromatography; Clinical Laboratory Techniques; Costs and Cost Analysis; Cystic Fibrosis; Evaluation Studies as Topic; Galactosemias; Genetic Counseling; Humans; Hyperlipidemias; Infant; Infant, Newborn; Iron; Mass Screening; Meconium; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias

1974
Gas chromatographic analysis of urinary tyrosine and phenylalanine metabolites in patients with gastrointestinal disorders.
    Clinica chimica acta; international journal of clinical chemistry, 1971, Volume: 34, Issue:2

    Topics: Acrylates; Adult; Bacteria; Benzene Derivatives; Benzoates; Celiac Disease; Child, Preschool; Chromatography, Gas; Cystic Fibrosis; Diarrhea; Diet; Diet Therapy; Enteritis; Gastrointestinal Diseases; Glutens; Humans; Hydroxylation; Infant; Intestine, Small; Intestines; Malabsorption Syndromes; Pancreatin; Phenylacetates; Phenylalanine; Propionates; Time Factors

1971
The determination of urinary phenylacetylglutamine as phenylacetic acid. Studies on its origin in normal subjects and children with cystic fibrosis.
    Clinica chimica acta; international journal of clinical chemistry, 1971, Volume: 35, Issue:1

    Topics: Administration, Oral; Capsules; Child; Child, Preschool; Chromatography, Gas; Chromatography, Ion Exchange; Circadian Rhythm; Cystic Fibrosis; Diet; Female; Glutamine; Humans; Hydrolysis; Infant; Infant, Newborn; Lactates; Male; Phenethylamines; Phenylacetates; Phenylalanine; Phenylpyruvic Acids; Time Factors; Tyramine; Tyrosine

1971