File Download

There are no files associated with this item.

  Links for fulltext
     (May Require Subscription)
Supplementary

Conference Paper: The cystic fibrosis transmembrane conductance regulator gene

TitleThe cystic fibrosis transmembrane conductance regulator gene
Authors
Issue Date1995
PublisherAmerican Thoracic Society. The Journal's web site is located at http://ajrccm.atsjournals.org
Citation
American Journal Of Respiratory And Critical Care Medicine, 1995, v. 151 n. 3 II SUPPL., p. S47-S53 How to Cite?
AbstractSince identification of the gene responsible for cystic fibrosis (CF) in 1989, significant progress has been made in elucidating the mutational basis for this severe, autosomal recessive disease. Such advances have been of major importance in furthering our understanding of the basic defect in CF. Studies of the protein product of the CF gene, referred to as the CF transmembrane conductance regulator (CFTR), indicate that the protein is a Cl- channel but may have additional functions. The most common mutation of the CF gene (ΔF508), which leads to the deletion of a single amino acid on the protein molecule, occurs in approximately 70% of CF chromosomes, but the CF Genetic Analysis Consortium has documented over 300 other sequence alterations of the CF gene. In addition to single amino acid deletions, other types of mutations include missense, nonsense (stop codon), frameshift, and splice-junction mutations. Studies of potential correspondences among these different mutational types and predicted functional domains of the CFTR molecule may provide important clues to the physiologic role of normal CFTR and how a defective protein might lead to the CF phenotype. Analyses of genotype-phenotype relationships have shown strong correlations between particular mutations and pancreatic function. However, associations between genotype and severity of CF pulmonary disease are not clear-cut, suggesting that the pulmonary phenotype is strongly influenced by other genetic or environmental factors.
Persistent Identifierhttp://hdl.handle.net/10722/143711
ISSN
2015 Impact Factor: 13.118
2015 SCImago Journal Rankings: 5.832
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorTsui, LCen_HK
dc.date.accessioned2011-12-16T08:20:02Z-
dc.date.available2011-12-16T08:20:02Z-
dc.date.issued1995en_HK
dc.identifier.citationAmerican Journal Of Respiratory And Critical Care Medicine, 1995, v. 151 n. 3 II SUPPL., p. S47-S53en_HK
dc.identifier.issn1073-449Xen_HK
dc.identifier.urihttp://hdl.handle.net/10722/143711-
dc.description.abstractSince identification of the gene responsible for cystic fibrosis (CF) in 1989, significant progress has been made in elucidating the mutational basis for this severe, autosomal recessive disease. Such advances have been of major importance in furthering our understanding of the basic defect in CF. Studies of the protein product of the CF gene, referred to as the CF transmembrane conductance regulator (CFTR), indicate that the protein is a Cl- channel but may have additional functions. The most common mutation of the CF gene (ΔF508), which leads to the deletion of a single amino acid on the protein molecule, occurs in approximately 70% of CF chromosomes, but the CF Genetic Analysis Consortium has documented over 300 other sequence alterations of the CF gene. In addition to single amino acid deletions, other types of mutations include missense, nonsense (stop codon), frameshift, and splice-junction mutations. Studies of potential correspondences among these different mutational types and predicted functional domains of the CFTR molecule may provide important clues to the physiologic role of normal CFTR and how a defective protein might lead to the CF phenotype. Analyses of genotype-phenotype relationships have shown strong correlations between particular mutations and pancreatic function. However, associations between genotype and severity of CF pulmonary disease are not clear-cut, suggesting that the pulmonary phenotype is strongly influenced by other genetic or environmental factors.en_HK
dc.languageeng-
dc.publisherAmerican Thoracic Society. The Journal's web site is located at http://ajrccm.atsjournals.orgen_HK
dc.relation.ispartofAmerican Journal of Respiratory and Critical Care Medicineen_HK
dc.subject.meshChloride Channels - genetics-
dc.subject.meshCystic Fibrosis - genetics-
dc.subject.meshGenes, Regulator - genetics-
dc.subject.meshMembrane Proteins - genetics-
dc.subject.meshMutation - genetics-
dc.titleThe cystic fibrosis transmembrane conductance regulator geneen_HK
dc.typeConference_Paperen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1073-449X&volume=151&issue=3, pt. 2&spage=S47&epage=S53&date=1995&atitle=The+cystic+fibrosis+transmembrane+conductance+regulator+gene-
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.pmid7533605-
dc.identifier.scopuseid_2-s2.0-0028910076en_HK
dc.identifier.volume151en_HK
dc.identifier.issue3 II SUPPL.en_HK
dc.identifier.spageS47en_HK
dc.identifier.epageS53en_HK
dc.identifier.isiWOS:A1995QN12100002-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats