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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
8
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pubmed:dateCreated |
2007-7-26
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pubmed:abstractText |
The autosomal dominant retinitis pigmentosa (adRP) gene on chromosome 17, region q22 (RP17), was recently identified as a glycosylphosphatidylinositol membrane-anchored zinc metalloenzyme (protein CAIV), highly expressed in the choriocapillaris of the eye and undetectable in the retina. Only two missense mutations have thus far been identified in the gene CA4. Functional analysis of these mutations demonstrated that retinal disease may result from perturbation of pH homeostasis in the outer retina, after disruption of CAIV and sodium bicarbonate cotransporter 1 (NBC1)-mediated bicarbonate transport. CA4 was screened in a panel of patients with RP, to expand the mutation spectrum of this novel adRP gene and understand its pathogenic mechanism.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
0146-0404
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pubmed:author |
pubmed-author:AlvarezBernardo VBV,
pubmed-author:AungTinT,
pubmed-author:CaseyJoseph RJR,
pubmed-author:ChenYaliY,
pubmed-author:KohAdrian HAH,
pubmed-author:KolatkarPrasannaP,
pubmed-author:PaaventhanPalasingamP,
pubmed-author:ShandroHaley JHJ,
pubmed-author:VithanaEranga NEN,
pubmed-author:YangZhenglinZ,
pubmed-author:YeungKitK,
pubmed-author:YongVictorV,
pubmed-author:ZhangKangK
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pubmed:issnType |
Print
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pubmed:volume |
48
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
3459-68
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pubmed:dateRevised |
2007-12-3
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pubmed:meshHeading |
pubmed-meshheading:17652713-Amino Acid Sequence,
pubmed-meshheading:17652713-Asian Continental Ancestry Group,
pubmed-meshheading:17652713-Bicarbonates,
pubmed-meshheading:17652713-Carbonic Anhydrase IV,
pubmed-meshheading:17652713-Cell Line,
pubmed-meshheading:17652713-Chromosomes, Human, Pair 17,
pubmed-meshheading:17652713-DNA Mutational Analysis,
pubmed-meshheading:17652713-Extracellular Space,
pubmed-meshheading:17652713-Humans,
pubmed-meshheading:17652713-Hydrogen-Ion Concentration,
pubmed-meshheading:17652713-Immunoprecipitation,
pubmed-meshheading:17652713-Kidney,
pubmed-meshheading:17652713-Molecular Sequence Data,
pubmed-meshheading:17652713-Mutation, Missense,
pubmed-meshheading:17652713-Protein Structure, Tertiary,
pubmed-meshheading:17652713-Retinitis Pigmentosa,
pubmed-meshheading:17652713-Sodium-Bicarbonate Symporters
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pubmed:year |
2007
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pubmed:articleTitle |
Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa.
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pubmed:affiliation |
Membrane Protein Research Group, Department of Physiology, University of Alberta, Edmonton Alberta, Canada.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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