Mutations in aquaporin-1 in phenotypically normal humans without functional CHIP water channels

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dc.contributor.author Agre, Peter
dc.contributor.author Moulds, JJ
dc.contributor.author Zeidel, ML
dc.contributor.author Smith, BL
dc.contributor.author Preston, GM
dc.date.accessioned 2010-05-13T17:53:23Z
dc.date.available 2010-05-13T17:53:23Z
dc.date.issued 1994-09-09
dc.identifier.citation Science 9 September 1994: Vol. 265. no. 5178, pp. 1585 - 1587 DOI: 10.1126/science.7521540 en
dc.identifier.uri http://jhir.library.jhu.edu/handle/1774.2/34113
dc.description.abstract The gene aquaporin-1 encodes channel-forming integral protein (CHIP), a member of a large family of water transporters found throughout nature. Three rare individuals were identified who do not express CHIP-associated Colton blood group antigens and whose red cells exhibit low osmotic water permeabilities. Genomic DNA analyses demonstrated that two individuals were homozygous for different nonsense mutations (exon deletion or frameshift), and the third had a missense mutation encoding a nonfunctioning CHIP molecule. Surprisingly, none of the three suffers any apparent clinical consequence, which raises questions about the physiological importance of CHIP and implies that other mechanisms may compensate for its absence. en
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dc.description.provenance Approved for entry into archive by David Reynolds(davidr@jhu.edu) on 2010-05-13T17:53:23Z (GMT) No. of bitstreams: 1 AgreScience 1994.pdf: 19194 bytes, checksum: 9312654f7dfa782830fb75c3f07fb012 (MD5) en
dc.description.provenance Made available in DSpace on 2010-05-13T17:53:23Z (GMT). No. of bitstreams: 1 AgreScience 1994.pdf: 19194 bytes, checksum: 9312654f7dfa782830fb75c3f07fb012 (MD5) Previous issue date: 1994-09-09 en
dc.language.iso en_US en
dc.publisher American Association for the Advancement of Science en
dc.subject Ion Channels/genetics en
dc.subject Aquaporins en
dc.title Mutations in aquaporin-1 in phenotypically normal humans without functional CHIP water channels en
dc.type Article en

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