Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Conn-Syndrom
ATP1A1
ATP2B3
CACNA1D
CACNA1H
CTNNB1
KCNJ5

Referenzen:

1.

Azizan EA et. al. (2013) Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.

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2.

Herrera VL et. al. (1990) Alteration of alpha 1 Na+,K(+)-ATPase 86Rb+ influx by a single amino acid substitution.

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3.

Kawakami K et. al. (1986) Primary structure of the alpha-subunit of human Na,K-ATPase deduced from cDNA sequence.

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4.

Yang-Feng TL et. al. (1988) Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes.

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5.

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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6.

Sverdlov ED et. al. (1987) Family of Na+,K+-ATPase genes. Intra-individual tissue-specific restriction fragment length polymorphism.

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7.

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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8.

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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9.

Shull MM et. al. (1987) Multiple genes encode the human Na+,K+-ATPase catalytic subunit.

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10.

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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11.

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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12.

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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13.

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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14.

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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15.

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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16.

Morth JP et. al. (2007) Crystal structure of the sodium-potassium pump.

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17.

Beuschlein F et. al. (2013) Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension.

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