Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Angiotensin-Rezeptor 1

Das AGTR1-Gen kodiert den Angiotensin-Rezeptor 1, der eine wichtige Rolle bei der Signaltransduktion im Renin-Angiotensin-System spielt und für dei Kontrolle des Blutdruckes und der Elektrolytbalance verantwortlich ist. Bei der ontogentischen Entwicklung der Niere scheint das RAS ebenfalls eine wichtige Rolle zu spielen.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Renotubuläre Dysgenesie
ACE
AGT
AGTR1
REN

Referenzen:

1.

Gribouval O et al. (2005) Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.

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2.

et al. () //

3.

Wallukat G et al. (1999) Patients with preeclampsia develop agonistic autoantibodies against the angiotensin AT1 receptor.

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4.

Paradis P et al. (2000) Overexpression of angiotensin II type I receptor in cardiomyocytes induces cardiac hypertrophy and remodeling.

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5.

AbdAlla S et al. (2000) AT1-receptor heterodimers show enhanced G-protein activation and altered receptor sequestration.

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6.

Martin MM et al. (2001) Human angiotensin II type 1 receptor isoforms encoded by messenger RNA splice variants are functionally distinct.

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7.

Sasaki K et al. (2002) Evidence for the importance of angiotensin II type 1 receptor in ischemia-induced angiogenesis.

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8.

Mauzy CA et al. (1992) Cloning, expression, and characterization of a gene encoding the human angiotensin II type 1A receptor.

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9.

Kobashi G et al. (2004) A1166C variant of angiotensin II type 1 receptor gene is associated with severe hypertension in pregnancy independently of T235 variant of angiotensinogen gene.

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10.

Curnow KM et al. (1992) Genetic analysis of the human type-1 angiotensin II receptor.

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11.

Chaves FJ et al. (2004) Polymorphisms of the renin-angiotensin system influence height in normotensive women in a Spanish population.

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12.

Furuta H et al. (1992) Molecular cloning and sequencing of the gene encoding human angiotensin II type 1 receptor.

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13.

Takayanagi R et al. (1992) Molecular cloning, sequence analysis and expression of a cDNA encoding human type-1 angiotensin II receptor.

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14.

AbdAlla S et al. (2004) Factor XIIIA transglutaminase crosslinks AT1 receptor dimers of monocytes at the onset of atherosclerosis.

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15.

Bergsma DJ et al. (1992) Cloning and characterization of a human angiotensin II type 1 receptor.

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16.

Elton TS et al. (1992) Isolation of two distinct type I angiotensin II receptor genes.

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17.

Kuba K et al. (2005) A crucial role of angiotensin converting enzyme 2 (ACE2) in SARS coronavirus-induced lung injury.

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18.

Martin MM et al. (2006) MicroRNA-155 regulates human angiotensin II type 1 receptor expression in fibroblasts.

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19.

Gemmill RM et al. (1991) Report of the Second International Workshop on Human Chromosome 3 mapping.

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20.

Crowley SD et al. (2006) Angiotensin II causes hypertension and cardiac hypertrophy through its receptors in the kidney.

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21.

Martin MM et al. (2007) The human angiotensin II type 1 receptor +1166 A/C polymorphism attenuates microrna-155 binding.

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22.

Billet S et al. (2007) Gain-of-function mutant of angiotensin II receptor, type 1A, causes hypertension and cardiovascular fibrosis in mice.

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23.

Sethupathy P et al. (2007) Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes.

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24.

Li H et al. (2008) Dopamine 5 receptor mediates Ang II type 1 receptor degradation via a ubiquitin-proteasome pathway in mice and human cells.

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25.

Sasaki K et al. (1991) Cloning and expression of a complementary DNA encoding a bovine adrenal angiotensin II type-1 receptor.

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26.

Murphy TJ et al. (1991) Isolation of a cDNA encoding the vascular type-1 angiotensin II receptor.

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27.

Wilson GN et al. (1985) Further delineation of the dup(3q) syndrome.

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28.

Ito M et al. (1995) Regulation of blood pressure by the type 1A angiotensin II receptor gene.

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29.

Bonnardeaux A et. al. (1994) Angiotensin II type 1 receptor gene polymorphisms in human essential hypertension.

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30.

Konishi H et al. (1994) Novel subtype of human angiotensin II type 1 receptor: cDNA cloning and expression.

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31.

Guo DF et al. (1994) The genomic organization of human angiotensin II type 1 receptor.

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32.

Mukoyama M et al. (1993) Expression cloning of type 2 angiotensin II receptor reveals a unique class of seven-transmembrane receptors.

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33.

Kambayashi Y et al. (1993) Molecular cloning of a novel angiotensin II receptor isoform involved in phosphotyrosine phosphatase inhibition.

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34.

Razdan K et al. (1996) Molecular cloning of a novel platelet protein showing homology to the angiotensin II receptor C-terminal domain.

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35.

Iyer SN et al. (1996) Chronic control of high blood pressure in the spontaneously hypertensive rat by delivery of angiotensin type 1 receptor antisense.

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36.

Haywood GA et al. (1997) AT1 and AT2 angiotensin receptor gene expression in human heart failure.

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37.

Wang WY et al. (1997) Association of angiotensin II type 1 receptor gene polymorphism with essential hypertension.

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38.

Herzig TC et al. (1997) Angiotensin II type1a receptor gene expression in the heart: AP-1 and GATA-4 participate in the response to pressure overload.

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39.

Tsuchida S et al. (1998) Murine double nullizygotes of the angiotensin type 1A and 1B receptor genes duplicate severe abnormal phenotypes of angiotensinogen nullizygotes.

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40.

Harada K et al. (1998) Angiotensin II type 1a receptor is involved in the occurrence of reperfusion arrhythmias.

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41.

Martens JR et al. (1998) Prevention of renovascular and cardiac pathophysiological changes in hypertension by angiotensin II type 1 receptor antisense gene therapy.

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42.

Oliverio MI et al. (1998) Reduced growth, abnormal kidney structure, and type 2 (AT2) angiotensin receptor-mediated blood pressure regulation in mice lacking both AT1A and AT1B receptors for angiotensin II.

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