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  1. No Access

    Article

    Cystic fibrosis modifier genes related to Pseudomonas aeruginosa infection

    Cystic fibrosis (CF) is one of the most common life-shortening genetic disorders, and the CF transmembrane conductance regulator (CFTR) is the major causal gene. However, a substantial clinical variability among ...

    J E Park, R Yung, D Stefanowicz, K Shumansky, L Akhabir, P R Durie… in Genes & Immunity (2011)

  2. No Access

    Article

    Prostaglandin-endoperoxide synthase genesCOX1 andCOX2 — novel modifiers of disease severity in cystic fibrosis patients

    Cystic fibrosis (CF) is one of the most common autosomal recessive diseases among Caucasians caused by a mutation in theCFTR gene. However, the clinical outcome of CF pulmonary disease varies remarkably even in p...

    K. Czerska, A. Sobczyńska-Tomaszewska, D. Sands… in Journal of Applied Genetics (2010)

  3. No Access

    Article

    Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297–1G→A)

    We have analyzed 97 CF unrelated Mexican families for mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Our initial screening for 12 selected CFTR mutations led to mutation det...

    L. Orozco, R. Velázquez, J. Zielenski, L.-C. Tsui, M. Chávez, J.L. Lezana… in Human Genetics (2000)

  4. No Access

    Article

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

    We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, viz., a deletion that is frequently observed in Central and Eastern Europe. The mutation, termed CFTRdel...

    T. Dörk, M. Macek Jr, F. Mekus, B. Tümmler, J. Tzountzouris, T. Casals… in Human Genetics (2000)

  5. No Access

    Article

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

    In order to determine the spectrum of cystic fibrosis (CF) mutations in the Turkish population, a complete coding region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene including exon-i...

    T. Onay, O. Topaloglu, J. Zielenski, N. Gokgoz, H. Kayserili… in Human Genetics (1998)

  6. No Access

    Article

    Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

    We describe a polymorphic microsatellite (IVS17BCA) in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It consists of an 11 to 20 CA/GT dinucleotide repeat, located 424 bp fr...

    N. Morral, E. Girbau, J. Zielenski, V. Nunes, T. Casals, L. -C. Tsui… in Human Genetics (1992)

  7. No Access

    Chapter

    Molecular Genetics of Cystic Fibrosis

    The gene for cystic fibrosis (CF) has recently been isolated (Rommens et al., 1989a; Riordan et al., 1989; Kerem et al., 1989) rendering it possible for the first time to study the elusive symptoms of the dise...

    L.-C. Tsui, J. Rommens, B. Kerem… in The Identification of the CF (Cystic Fibro… (1991)