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Hierarchical fine mapping of the cystic fibrosis modifier locus on 19q13 identifies an association with two elements near the genes CEACAM3 and CEACAM6.
- Published in:
- Human Genetics, 2010, v. 127, n. 4, p. 383, doi. 10.1007/s00439-009-0779-6
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- Article
Effect of Alpha-1 Antitrypsin on CFTR Levels in Primary Human Airway Epithelial Cells Grown at the Air-Liquid-Interface.
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- Molecules, 2021, v. 26, n. 9, p. 2639, doi. 10.3390/molecules26092639
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- Article
CLCA4 variants determine the manifestation of the cystic fibrosis basic defect in the intestine.
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- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 691, doi. 10.1038/ejhg.2012.234
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- Article
Changes in cystic fibrosis transmembrane conductance regulator protein expression prior to and during elexacaftor-tezacaftor-ivacaftor therapy.
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- Frontiers in Pharmacology, 2023, v. 14, p. 1, doi. 10.3389/fphar.2023.1114584
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- Article
Transmission ratio distortion and maternal effects confound the analysis of modulators of cystic fibrosis disease severity on 19q13.
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- European Journal of Human Genetics, 2007, v. 15, n. 7, p. 774, doi. 10.1038/sj.ejhg.5201825
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- Article
Analysis of CFTR mRNA and Protein in Peripheral Blood Mononuclear Cells via Quantitative Real-Time PCR and Western Blot.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 12, p. 6367, doi. 10.3390/ijms25126367
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- Article
Molecular Epidemiology of Chronic Pseudomonas aeruginosa Airway Infections in Cystic Fibrosis.
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- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0050731
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- Article
Genetic information from discordant sibling pairs points to ESRP2 as a candidate trans-acting regulator of the CF modifier gene SCNN1B.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-79804-y
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- Article
A Fast Scoring of Human Primary Respiratory Epithelia Grown at Air–Liquid Interface (ALI) to Assess Epithelial Morphology in Research and Personalized Medicine Settings.
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- Journal of Personalized Medicine, 2024, v. 14, n. 1, p. 109, doi. 10.3390/jpm14010109
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- Article
Analysis of CF patient survival confirms STAT3 as a CF-modifying gene with changing impact over time.
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- Human Molecular Genetics, 2023, v. 32, n. 4, p. 543, doi. 10.1093/hmg/ddac221
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- Article
Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del CFTR mutation genotype in human native colon.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 2, p. N.PAG, doi. 10.1002/mgg3.526
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- Article