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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2000-12-13
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pubmed:databankReference |
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pubmed:abstractText |
Primary hypomagnesaemia is composed of a heterogeneous group of disorders characterized by renal or intestinal Mg(2+) wasting, often associated with disturbances in Ca(2+) excretion. We identified a putative dominant-negative mutation in the gene encoding the Na(+), K(+)-ATPase gamma-subunit (FXYD2), leading to defective routing of the protein in a family with dominant renal hypomagnesaemia.
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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 |
Nov
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pubmed:issn |
1061-4036
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
26
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
265-6
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:11062458-Alternative Splicing,
pubmed-meshheading:11062458-Amino Acid Sequence,
pubmed-meshheading:11062458-Animals,
pubmed-meshheading:11062458-COS Cells,
pubmed-meshheading:11062458-Cercopithecus aethiops,
pubmed-meshheading:11062458-Chromosomes, Human, Pair 11,
pubmed-meshheading:11062458-DNA, Complementary,
pubmed-meshheading:11062458-Genes, Dominant,
pubmed-meshheading:11062458-Genetic Vectors,
pubmed-meshheading:11062458-Humans,
pubmed-meshheading:11062458-Kidney Tubules, Distal,
pubmed-meshheading:11062458-Magnesium,
pubmed-meshheading:11062458-Magnesium Deficiency,
pubmed-meshheading:11062458-Mammals,
pubmed-meshheading:11062458-Mice,
pubmed-meshheading:11062458-Molecular Sequence Data,
pubmed-meshheading:11062458-Nucleopolyhedrovirus,
pubmed-meshheading:11062458-Protein Subunits,
pubmed-meshheading:11062458-Protein Transport,
pubmed-meshheading:11062458-Rats,
pubmed-meshheading:11062458-Recombinant Fusion Proteins,
pubmed-meshheading:11062458-Sequence Alignment,
pubmed-meshheading:11062458-Sodium-Potassium-Exchanging ATPase,
pubmed-meshheading:11062458-Species Specificity,
pubmed-meshheading:11062458-Spodoptera,
pubmed-meshheading:11062458-Transfection
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pubmed:year |
2000
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pubmed:articleTitle |
Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit.
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pubmed:affiliation |
Department of Pediatrics, Institute of Cellular Signaling, University Medical Centre Nijmegen, Nijmegen, The Netherlands.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
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