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Article: Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor
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TitleModulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor
 
AuthorsRozmahel, R2 3
Wilschanski, M3 1
Matin, A4
Plyte, S3
Oliver, M3
Auerbach, W3
Moore, A3
Forstner, J2 3
Durie, P2 3
Nadeau, J4
Bear, C1 3
Tsui, LC2 3
 
Issue Date1996
 
PublisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
 
CitationNature Genetics, 1996, v. 12 n. 3, p. 280-287 [How to Cite?]
DOI: http://dx.doi.org/10.1038/ng0396-280
 
AbstractMice that have been made deficient for the cystic fibrosis transmembrane conductance regulator (Cftr) usually die of intestinal obstruction. We have created Cftr-deficient mice and demonstrate prolonged survival among backcross and intercross progeny with different inbred strains, suggesting that modulation of disease severity is genetically determined. A genome scan showed that the major modifier locus maps near the centromere of mouse chromosome 7. Electrophysiological studies on mice with prolonged survival show that the partial rectification of Cl- and Na+ ion transport abnormalities can be explained in part by up-regulation of a calcium- activated Cl- conductance. Identification of modifier genes in our Cftr(m1HSC)/Cftr(m1HSC) mice should provide important insight into the heterogeneous disease presentation observed among CF patients.
 
DescriptionErratum in Nature Genetics, 1996, v. 13 n. 1, p. 129
 
ISSN1061-4036
2013 Impact Factor: 29.648
2013 SCImago Journal Rankings: 24.052
 
DOIhttp://dx.doi.org/10.1038/ng0396-280
 
ISI Accession Number IDWOS:A1996TY18300017
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorRozmahel, R
 
dc.contributor.authorWilschanski, M
 
dc.contributor.authorMatin, A
 
dc.contributor.authorPlyte, S
 
dc.contributor.authorOliver, M
 
dc.contributor.authorAuerbach, W
 
dc.contributor.authorMoore, A
 
dc.contributor.authorForstner, J
 
dc.contributor.authorDurie, P
 
dc.contributor.authorNadeau, J
 
dc.contributor.authorBear, C
 
dc.contributor.authorTsui, LC
 
dc.date.accessioned2007-09-12T03:50:52Z
 
dc.date.available2007-09-12T03:50:52Z
 
dc.date.issued1996
 
dc.description.abstractMice that have been made deficient for the cystic fibrosis transmembrane conductance regulator (Cftr) usually die of intestinal obstruction. We have created Cftr-deficient mice and demonstrate prolonged survival among backcross and intercross progeny with different inbred strains, suggesting that modulation of disease severity is genetically determined. A genome scan showed that the major modifier locus maps near the centromere of mouse chromosome 7. Electrophysiological studies on mice with prolonged survival show that the partial rectification of Cl- and Na+ ion transport abnormalities can be explained in part by up-regulation of a calcium- activated Cl- conductance. Identification of modifier genes in our Cftr(m1HSC)/Cftr(m1HSC) mice should provide important insight into the heterogeneous disease presentation observed among CF patients.
 
dc.description.natureabstract
 
dc.descriptionErratum in Nature Genetics, 1996, v. 13 n. 1, p. 129
 
dc.identifier.citationNature Genetics, 1996, v. 12 n. 3, p. 280-287 [How to Cite?]
DOI: http://dx.doi.org/10.1038/ng0396-280
 
dc.identifier.doihttp://dx.doi.org/10.1038/ng0396-280
 
dc.identifier.epage287
 
dc.identifier.isiWOS:A1996TY18300017
 
dc.identifier.issn1061-4036
2013 Impact Factor: 29.648
2013 SCImago Journal Rankings: 24.052
 
dc.identifier.issue3
 
dc.identifier.pmid8589719
 
dc.identifier.scopuseid_2-s2.0-13344282728
 
dc.identifier.spage280
 
dc.identifier.urihttp://hdl.handle.net/10722/44297
 
dc.identifier.volume12
 
dc.languageeng
 
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
 
dc.publisher.placeUnited States
 
dc.relation.ispartofNature Genetics
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshChlorides - metabolism
 
dc.subject.meshCystic fibrosis - genetics - pathology - physiopathology
 
dc.subject.meshCystic fibrosis transmembrane conductance regulator - deficiency - genetics
 
dc.subject.meshIleum - pathology
 
dc.subject.meshDisease models, animal
 
dc.titleModulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor
 
dc.typeArticle
 
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<contributor.author>Oliver, M</contributor.author>
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<description.abstract>Mice that have been made deficient for the cystic fibrosis transmembrane conductance regulator (Cftr) usually die of intestinal obstruction. We have created Cftr-deficient mice and demonstrate prolonged survival among backcross and intercross progeny with different inbred strains, suggesting that modulation of disease severity is genetically determined. A genome scan showed that the major modifier locus maps near the centromere of mouse chromosome 7. Electrophysiological studies on mice with prolonged survival show that the partial rectification of Cl- and Na+ ion transport abnormalities can be explained in part by up-regulation of a calcium- activated Cl- conductance. Identification of modifier genes in our Cftr(m1HSC)/Cftr(m1HSC) mice should provide important insight into the heterogeneous disease presentation observed among CF patients.</description.abstract>
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Author Affiliations
  1. University of Toronto Faculty of Medicine
  2. University of Toronto
  3. Hospital for Sick Children University of Toronto
  4. McGill University