The Identification of the CF (Cystic Fibrosis) Gene: Recent Progress and New Research Strategies

Front Matter....Pages i-xi
Cystic Fibrosis — A Strategy for the Future....Pages 1-7
Molecular Genetics of Cystic Fibrosis....Pages 9-18
The CF Gene Product as a Member of a Membrane Transporter (TM6-NBF) Super Family....Pages 19-29
Genetic Analysis of Cystic Fibrosis....Pages 31-38
Molecular and Genetic Analyses at the CF Locus....Pages 39-44
Identification of Cystic Fibrosis Mutations....Pages 45-51
Mutation Analysis for Cystic Fibrosis in a North American Population....Pages 53-54
Toward a Geographical History of the Predominant and Secondary Mutations in Europe....Pages 55-62
Origin and Diffusion of the Major CF Mutation in Europe....Pages 63-74
Present State of DNA-Diagnosis for Cystic Fibrosis and Attitudes Concerning a Heterozygote Screening in the GDR....Pages 75-81
Pros and Cons of Neonatal Screening for Cystic Fibrosis....Pages 83-95
Genotype-Phenotype Correlations in Cystic Fibrosis Patients....Pages 97-103
Ion Transport in Normal and CF Airway Epithelia....Pages 105-118
Aerosolized Amiloride as Treatment of Cystic Fibrosis Lung Disease: A Pilot Study....Pages 119-132
Some Properties of Sodium and Chloride Channels in Respiratory Epithelia of CF- and Non-CF-Patients....Pages 133-144
Roles of Ca and cAMP on Cl Channel Activity in Cystic Fibrosis Sweat Clear Cells as Studied by Microsuperfusion and Cell Volume Analysis....Pages 145-158
Regulation of Absorption in the Human Sweat Duct....Pages 159-172
Altered Biochemical Regulation of Secretion in Cystic Fibrosis Epithelial Cells....Pages 173-186
Chloride Ion Transport in Transformed Normal and Cystic Fibrosis Epithelial Cells....Pages 187-196
Conductance Pathways Involved in Chloride Secretion and Their Regulation....Pages 197-208
Regulation of Epithelial Chloride Channels: Roles of Protein Kinases and Arachidonic Acid....Pages 209-224
Cytosolic Inhibition and Excision Activation of Epithelial Chloride Channels....Pages 225-233
Purification of the Epithelial Cl Channel....Pages 235-240
Regulation of Expression of CFTR in Human Intestinal Epithelial Cells....Pages 241-252
Cystic Fibrosis, the CFTR, and Rectifying Cl - Channels....Pages 253-272
Regulation of Ion Conductance in Human Skin Fibroblasts....Pages 273-285
Chloride Transport in the Cystic Fibrosis Enterocyte....Pages 287-296
Chloride Transport Pathways in Human Keratinocytes....Pages 297-305
A Chloride Conductance Evoked by Hypotonic Shock in Epithelial Cells....Pages 307-317
Regulation of Lymphocyte Chloride Channels....Pages 319-331
Guanine Nucleotide Binding Proteins Regulate Epithelial Na + Channels....Pages 333-345
Attitudes of Parents of Cystic Fibrosis Children Towards Neonatal Screening and Antenatal Diagnosis....Pages 347-348
DNA Analysis in CF Families by Biotinylated Probes and Polymerase Chain Reaction Technique....Pages 349-351
Prevalence of the Major Mutation of the CF Gene in Belgian Patients....Pages 353-354
Cystic Fibrosis in the Sicilian Population: Linkage Disequilibrium and Prenatal Diagnosis by Polimerase Chain Reaction....Pages 355-356
Study of Reconstitution of the Rabbit Parotid Na + /K + /2Cl - Cotransporter....Pages 357-359
Human Placental Membrane Vesicles as Models for Investigation of Cystic Fibrosis....Pages 361-363
The DeltaF508 Mutation in Israeli CF Families....Pages 365-366
The DeltaF508-Deletion in 99 CF Patients of Switzerland....Pages 367-368
The Prevalence of the Deletion F508 in a Belgian Cystic Fibrosis Population....Pages 369-370
Cystic Fibrosis Delta F508 Mutation in a French Population....Pages 371-372
Frequency of the Delta-F508 Mutation and Flanking Marker Haplotypes at the Cystic Fibrosis Locus from 167 Czech Families....Pages 373-375
The Response of Chloride Transport to Cyclic AMP, Calcium and Hypotonic Shock in Normal and Cystic Fibrosis Fibroblasts....Pages 377-378
2D-Electrophoresis of Mitochondrial Proteins from Cystic Fibrosis Patients....Pages 379-381
Frequency of Cystic Fibrosis Mutations and Associated Haplotype Distribution in Slovak CF Patients....Pages 383-385
Frequency of Cystic Fibrosis Mutations Among Italian Patients....Pages 387-390
Cultured Human Placental Trophoblasts as Models for Investigating Defective Regulation of Chloride Transport and Protein Secretion in Cystic Fibrosis....Pages 391-392
A Deletion Mutation of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Locus: DeltaI507....Pages 393-398
DNA Technology for Prenatal Diagnosis of Cystic Fibrosis in Italy....Pages 399-401
Incidence of Cystic Fibrosis at the Faroe Islands....Pages 403-404
Back Matter....Pages 405-409