Natrium/Kalium-ATPase, Untereinheit alpha 1
Das ATP1A1-Gen kodiert eine Natrium/Kalium-ATPase, die wenn in der Nebenniere somatisch mutiert eine aldosteron-produzierendes Andenom auslösen kann.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Herrera VL et al. (1990) Alteration of alpha 1 Na+,K(+)-ATPase 86Rb+ influx by a single amino acid substitution.
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2. |
Beuschlein F et al. (2013) Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension.
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3. |
Morth JP et al. (2007) Crystal structure of the sodium-potassium pump.
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4. |
Barnard R et al. (2001) Neither the New Zealand genetically hypertensive strain nor Dahl salt-sensitive strain has an A1079T transversion in the alpha1 isoform of the Na(+),K(+)-ATPase gene.
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5. |
Glorioso N et al. (2001) Interaction of alpha(1)-Na,K-ATPase and Na,K,2Cl-cotransporter genes in human essential hypertension.
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6. |
James PF et al. (1999) Identification of a specific role for the Na,K-ATPase alpha 2 isoform as a regulator of calcium in the heart.
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7. |
Herrera VL et al. (1998) The alpha1 Na,K-ATPase gene is a susceptibility hypertension gene in the Dahl salt-sensitiveHSD rat.
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8. |
Ruiz-Opazo N et al. (1994) Confirmation of mutant alpha 1 Na,K-ATPase gene and transcript in Dahl salt-sensitive/JR rats.
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9. |
Dahl LK et al. (1974) Genetic influence of the kidneys on blood pressure. Evidence from chronic renal homografts in rats with opposite predispositions to hypertension.
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10. |
Shull MM et al. (1987) Multiple genes encode the human Na+,K+-ATPase catalytic subunit.
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11. |
Ovchinnikov YuA et al. (1987) The family of human Na+,K+-ATPase genes. A partial nucleotide sequence related to the alpha-subunit.
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12. |
Chehab FF et al. (1987) Human placental Na+,K+-ATPase alpha subunit: cDNA cloning, tissue expression, DNA polymorphism, and chromosomal localization.
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13. |
Sverdlov ED et al. (1987) Family of Na+,K+-ATPase genes. Intra-individual tissue-specific restriction fragment length polymorphism.
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14. |
Kent RB et al. (1987) Genes encoding alpha and beta subunits of Na,K-ATPase are located on three different chromosomes in the mouse.
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15. |
Yang-Feng TL et al. (1988) Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes.
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16. |
Kawakami K et al. (1986) Primary structure of the alpha-subunit of human Na,K-ATPase deduced from cDNA sequence.
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17. |
Azizan EA et al. (2013) Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.
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18. |
Orphanet article
Orphanet ID 366774
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19. |
NCBI article
NCBI 476
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20. |
OMIM.ORG article
Omim 182310
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Update: 14. August 2020