Abstract
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.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Alternative Splicing
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Amino Acid Sequence
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Animals
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COS Cells
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Chlorocebus aethiops
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Chromosomes, Human, Pair 11 / genetics
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DNA, Complementary / genetics
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Genes, Dominant
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Genetic Vectors
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Humans
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Kidney Tubules, Distal / metabolism*
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Magnesium / metabolism*
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Magnesium Deficiency / blood
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Magnesium Deficiency / genetics*
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Mammals / metabolism
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Mice
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Molecular Sequence Data
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Nucleopolyhedroviruses / genetics
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Protein Subunits
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Protein Transport
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Rats
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Recombinant Fusion Proteins / metabolism
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Sequence Alignment
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Sodium-Potassium-Exchanging ATPase / chemistry
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Sodium-Potassium-Exchanging ATPase / deficiency*
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Sodium-Potassium-Exchanging ATPase / genetics
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Sodium-Potassium-Exchanging ATPase / metabolism
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Species Specificity
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Spodoptera / cytology
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Spodoptera / metabolism
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Transfection
Substances
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DNA, Complementary
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Protein Subunits
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Recombinant Fusion Proteins
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FXYD2 protein, human
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Fxyd2 protein, mouse
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Fxyd2 protein, rat
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Sodium-Potassium-Exchanging ATPase
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Magnesium
Associated data
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GENBANK/AF241235
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GENBANK/AF241236