The Identification of the CF (Cystic Fibrosis) Gene (eBook, PDF)

Recent Progress and New Research Strategies
Redaktion: Lap-Chee Tsui; Gorini, Sergio; Greger, Rainer; Romeo, Giovanni

• Format: PDF

Produktbeschreibung

Proceedings of an international workshop held in Sestri Levante (Genoa), Italy, April 9--11, 1990

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Produktdetails

• Verlag: Springer US
• Seitenzahl: 409
• Erscheinungstermin: 11. November 2013
• Englisch
• ISBN-13: 9781468459340
• Artikelnr.: 44181306

Inhaltsangabe

Cystic Fibrosis - A Strategy for the Future.- Molecular Genetics of Cystic Fibrosis.- The CF Gene Product as a Member of a Membrane Transporter (TM6-NBF) Super Family.- Genetic Analysis of Cystic Fibrosis.- Molecular and Genetic Analyses at the CF Locus.- Identification of Cystic Fibrosis Mutations.- Mutation Analysis for Cystic Fibrosis in a North American Population.- Toward a Geographical History of the Predominant and Secondary Mutations in Europe.- Origin and Diffusion of the Major CF Mutation in Europe.- Present State of DNA-Diagnosis for Cystic Fibrosis and Attitudes Concerning a Heterozygote Screening in the GDR.- Pros and Cons of Neonatal Screening for Cystic Fibrosis.- Genotype-Phenotype Correlations in Cystic Fibrosis Patients.- Ion Transport in Normal and CF Airway Epithelia.- Aerosolized Amiloride as Treatment of Cystic Fibrosis Lung Disease: A Pilot Study.- Some Properties of Sodium and Chloride Channels in Respiratory Epithelia of CF- and Non-CF-Patients.- Roles of Ca and cAMP on Cl Channel Activity in Cystic Fibrosis Sweat Clear Cells as Studied by Microsuperfusion and Cell Volume Analysis.- Regulation of Absorption in the Human Sweat Duct.- Altered Biochemical Regulation of Secretion in Cystic Fibrosis Epithelial Cells.- Chloride Ion Transport in Transformed Normal and Cystic Fibrosis Epithelial Cells.- Conductance Pathways Involved in Chloride Secretion and Their Regulation.- Regulation of Epithelial Chloride Channels: Roles of Protein Kinases and Arachidonic Acid.- Cytosolic Inhibition and Excision Activation of Epithelial Chloride Channels.- Purification of the Epithelial Cl Channel.- Regulation of Expression of CFTR in Human Intestinal Epithelial Cells.- Cystic Fibrosis, the CFTR, and Rectifying Cl- Channels.- Regulation of Ion Conductance inHuman Skin Fibroblasts.- Chloride Transport in the Cystic Fibrosis Enterocyte.- Chloride Transport Pathways in Human Keratinocytes.- A Chloride Conductance Evoked by Hypotonic Shock in Epithelial Cells.- Regulation of Lymphocyte Chloride Channels.- Guanine Nucleotide Binding Proteins Regulate Epithelial Na+ Channels.- Attitudes of Parents of Cystic Fibrosis Children Towards Neonatal Screening and Antenatal Diagnosis.- DNA Analysis in CF Families by Biotinylated Probes and Polymerase Chain Reaction Technique.- Prevalence of the Major Mutation of the CF Gene in Belgian Patients.- Cystic Fibrosis in the Sicilian Population: Linkage Disequilibrium and Prenatal Diagnosis by Polimerase Chain Reaction.- Study of Reconstitution of the Rabbit Parotid Na+/K+/2Cl-Cotransporter.- Human Placental Membrane Vesicles as Models for Investigation of Cystic Fibrosis.- The DeltaF508 Mutation in Israeli CF Families.- The DeltaF508-Deletion in 99 CF Patients of Switzerland.- The Prevalence of the Deletion F508 in a Belgian Cystic Fibrosis Population.- Cystic Fibrosis Delta F508 Mutation in a French Population.- Frequency of the Delta-F508 Mutation and Flanking Marker Haplotypes at the Cystic Fibrosis Locus from 167 Czech Families.- The Response of Chloride Transport to Cyclic AMP, Calcium and Hypotonic Shock in Normal and Cystic Fibrosis Fibroblasts.- 2D-Electrophoresis of Mitochondrial Proteins from Cystic Fibrosis Patients.- Frequency of Cystic Fibrosis Mutations and Associated Haplotype Distribution in Slovak CF Patients.- Frequency of Cystic Fibrosis Mutations Among Italian Patients.- Cultured Human Placental Trophoblasts as Models for Investigating Defective Regulation of Chloride Transport and Protein Secretion in Cystic Fibrosis.- A Deletion Mutation of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Locus: DeltaI507.- DNA Technology for Prenatal Diagnosis of Cystic Fibrosis in Italy.- Incidence of Cystic Fibrosis at the Faroe Islands.