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Book Chapter
Series: Progress in Respiratory Research
Volume: 34
Published: 07 October 2005
10.1159/000088467
EISBN: 978-3-318-01240-8
... Abstract Fifteen years ago the gene responsible for cystic fibrosis(CF), the most common severe autosomal recessive disorderamong Caucasians, was identified. In this chapter we describethe cloning of the cystic fibrosis transmembrane conductanceregulator (CFTR) gene, the spectrum of the CFTR...
Book Chapter
Series: Progress in Respiratory Research
Volume: 34
Published: 07 October 2005
10.1159/000088469
EISBN: 978-3-318-01240-8
... Abstract Despite the enormous interest in cystic fibrosis (CF) andCFTR, with thousands of researchers worldwide working onthis gene and the disease, there has not been a comprehensivereview of the distribution and regulation of CFTR expression.This is surprising as knowledge of the sites...
Book Chapter
Series: Progress in Respiratory Research
Volume: 34
Published: 07 October 2005
10.1159/000088470
EISBN: 978-3-318-01240-8
... Abstract The cystic fibrosis transmembrane conductance regulator(CFTR or ABCC7), a cAMP-regulated plasma membrane chloridechannel, belongs to the ATP-binding cassette (ABC)transporter superfamily. Cystic fibrosis (CF) mutations couldbe grouped into three major categories based on their cellular...
Book Chapter
Series: Progress in Respiratory Research
Volume: 34
Published: 07 October 2005
10.1159/000088472
EISBN: 978-3-318-01240-8
... Abstract The cystic fibrosis transmembrane conductance regulator(CFTR) is a unique member of the ATP-binding cassette(ABC) transporter superfamily that plays a critical role in fluidand electrolyte transport across epithelial tissues. CFTR iscomposed of two membrane-spanning domain (MSD...
Book Chapter
Series: Progress in Respiratory Research
Volume: 34
Published: 07 October 2005
10.1159/000088473
EISBN: 978-3-318-01240-8
... to the concept that CFTR has multiple functions, including the capability toregulate the function of other proteins. Despite muchresearch, little molecular detail for the proposed regulatoryfunctions of CFTR has emerged. This chapter reviews themajor regulatory functions proposed for CFTR, and evaluatesevidence...
Book Chapter
Series: Progress in Respiratory Research
Volume: 34
Published: 07 October 2005
10.1159/000088474
EISBN: 978-3-318-01240-8
... Abstract In the lung, CFTR is largely expressed in undifferentiatedmultipotent stem cells of the first- and second-trimester airwayepithelium. As differentiation proceeds, the expression ofCFTR dissipates and the adult lung expresses a small fractionof what was expressed in the fetus...
Book Chapter
Series: Progress in Respiratory Research
Volume: 34
Published: 07 October 2005
10.1159/000088476
EISBN: 978-3-318-01240-8
... Abstract Diagnosis of classic cystic fibrosis (CF) is based on a combinationof specific clinical features and evidence of dysfunction ofthe CF transmembrane conductance regulator (CFTR).The latteris usually documented by elevated chloride concentration inthe sweat although reduced nasal...
Book Chapter
Series: Progress in Respiratory Research
Volume: 34
Published: 07 October 2005
10.1159/000088486
EISBN: 978-3-318-01240-8
... Abstract Assays utilizing chloride-sensitive fluorescent indicatorshave been applied to study chloride transport by CFTR innative and transfected cell culture models, in ex vivo tissues inhuman gene therapy trials, and in high-throughput screeningapplications for discovery of CFTR inhibitors...
Book Chapter
Book Chapter
Book Chapter
Series: Monographs in Human Genetics
Volume: 21
Published: 11 September 2017
10.1159/000477279
EISBN: 978-3-318-06098-0
... Abstract The cystic fibrosis transmembrane conductance regulator (CFTR) gene encodes a cAMP-activated Cl - and HCO 3 - channel, which is widely expressed in epithelial cells of the airways, as well as the digestive and reproductive tracts. Nearly 2,000 mutations in CFTR that affect CFTR...
Book Chapter
Series: Advances in Oto-Rhino-Laryngology
Volume: 79
Published: 03 August 2016
10.1159/000445134
EISBN: 978-3-318-05854-3
... Abstract In the genetic airway disease cystic fibrosis (CF), deficiency or dysfunction of the cystic fibrosis membrane conductance regulator (CFTR) alters anion transport in respiratory epithelium and consequently disrupts mucociliary clearance. An enriched understanding of the role of CFTR...
Book Chapter
Series: Monographs in Human Genetics
Volume: 21
Published: 11 September 2017
EISBN: 978-3-318-06098-0
... and incidence of disease. Hum Biol 1995;67:797-803. 3. Bobadilla JL, Macek M Jr, Fine JP, Farrell PM: Cystic fibrosis: a worldwide analysis of CFTR mutations - correlation with incidence data and application to screening. Hum Mutat 2002;19:575-606. 4. Castellani C, Picci L, Tamanini A, Girardi P...
Book Chapter
Series: Progress in Respiratory Research
Volume: 34
Published: 07 October 2005
10.1159/000088471
EISBN: 978-3-318-01240-8
... Abstract CFTR is a distinctive member of the ATP-binding cassette(ABC) superfamily of membrane transport proteins. Asexpected, on the basis of this designation, CFTR is a multidomainmembrane protein which utilizes cellular ATP to regulatethe flux of its substrate through the membrane...
Book Chapter
Series: Advances in Oto-Rhino-Laryngology
Volume: 79
Published: 03 August 2016
10.1159/000444959
EISBN: 978-3-318-05854-3
... Abstract Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in the CF transmembrane conductance regulator gene (CFTR) resulting in impaired ion transport. Nearly all people with CF will develop chronic rhino-sinusitis (CRS) and present with the characteristic...
Book Chapter
Series: Progress in Respiratory Research
Volume: 34
Published: 07 October 2005
10.1159/000088600
EISBN: 978-3-318-01240-8
... Abstract Since the identification of the CFTR gene in 1989, tremendousunderstanding of the cellular and molecular functions ofCFTR has been achieved, as well as insight into the mechanismof dysfunction of disease-causing CFTR mutants. Thesedata have suggested the hypothesis that pharmacologic...
Book Chapter
Series: Progress in Respiratory Research
Volume: 34
Published: 07 October 2005
10.1159/000088475
EISBN: 978-3-318-01240-8
... Abstract The primary defect in cystic fibrosis (CF) is dysfunction ofcystic fibrosis transmembrane conductance regulator (CFTR)caused by mutations in the CFTR gene. In order to betterunderstand the effect of CFTR mutations on disease severityand progression, genotype-phenotype (G-P) correlation...
Book
Book Cover Image
Series: Progress in Respiratory Research
Volume: 34
Published: 07 October 2005
10.1159/isbn.978-3-318-01240-8
EISBN: 978-3-318-01240-8
Book Chapter
Series: World Review of Nutrition and Dietetics
Volume: 124
Published: 15 June 2022
10.1159/000517004
EISBN: 978-3-318-06296-0
... to the CF patient who is not thriving, and an outline of nutritional management is proposed. The role of newly developed drug class, namely CFTR modulators, in improving CF nutrition is reviewed. Introduction Cystic fibrosis (CF) is the most common life-threatening autosomal recessive disease...
Book Chapter
Series: World Review of Nutrition and Dietetics
Volume: 124
Published: 15 June 2022
EISBN: 978-3-318-06296-0
... FY, Lam GY, Hamilton CM, Wilcox PG, Quon BS. The extra-pulmonary effects of CFTR modulators in cystic fibrosis. Ann Am Thorac Soc. 2020;17(2):147–54. 26. Houwen RHJ, van der Woerd WL, Slae M, Wilschanski M. Effects of new and emerging therapies on gastrointestinal outcomes in cystic fibrosis...