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.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
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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2. |
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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3. |
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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4. |
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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5. |
Murphy TJ et al. (1991) Isolation of a cDNA encoding the vascular type-1 angiotensin II receptor.
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6. |
Wilson GN et al. (1985) Further delineation of the dup(3q) syndrome.
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7. |
Ito M et al. (1995) Regulation of blood pressure by the type 1A angiotensin II receptor gene.
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8. |
Konishi H et al. (1994) Novel subtype of human angiotensin II type 1 receptor: cDNA cloning and expression.
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9. |
Guo DF et al. (1994) The genomic organization of human angiotensin II type 1 receptor.
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10. |
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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11. |
Kambayashi Y et al. (1993) Molecular cloning of a novel angiotensin II receptor isoform involved in phosphotyrosine phosphatase inhibition.
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12. |
Bonnardeaux A et al. (1994) Angiotensin II type 1 receptor gene polymorphisms in human essential hypertension.
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13. |
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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14. |
Haywood GA et al. (1997) AT1 and AT2 angiotensin receptor gene expression in human heart failure.
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15. |
Wang WY et al. (1997) Association of angiotensin II type 1 receptor gene polymorphism with essential hypertension.
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16. |
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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17. |
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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18. |
Harada K et al. (1998) Angiotensin II type 1a receptor is involved in the occurrence of reperfusion arrhythmias.
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19. |
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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20. |
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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21. |
et al. () ////
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22. |
Martin MM et al. (2007) The human angiotensin II type 1 receptor +1166 A/C polymorphism attenuates microrna-155 binding.
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23. |
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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24. |
Wallukat G et al. (1999) Patients with preeclampsia develop agonistic autoantibodies against the angiotensin AT1 receptor.
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25. |
Paradis P et al. (2000) Overexpression of angiotensin II type I receptor in cardiomyocytes induces cardiac hypertrophy and remodeling.
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26. |
AbdAlla S et al. (2000) AT1-receptor heterodimers show enhanced G-protein activation and altered receptor sequestration.
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27. |
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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28. |
Sasaki K et al. (2002) Evidence for the importance of angiotensin II type 1 receptor in ischemia-induced angiogenesis.
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29. |
Mauzy CA et al. (1992) Cloning, expression, and characterization of a gene encoding the human angiotensin II type 1A receptor.
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30. |
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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31. |
Curnow KM et al. (1992) Genetic analysis of the human type-1 angiotensin II receptor.
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32. |
Chaves FJ et al. (2004) Polymorphisms of the renin-angiotensin system influence height in normotensive women in a Spanish population.
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33. |
Furuta H et al. (1992) Molecular cloning and sequencing of the gene encoding human angiotensin II type 1 receptor.
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34. |
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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35. |
AbdAlla S et al. (2004) Factor XIIIA transglutaminase crosslinks AT1 receptor dimers of monocytes at the onset of atherosclerosis.
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36. |
Bergsma DJ et al. (1992) Cloning and characterization of a human angiotensin II type 1 receptor.
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37. |
Elton TS et al. (1992) Isolation of two distinct type I angiotensin II receptor genes.
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38. |
Kuba K et al. (2005) A crucial role of angiotensin converting enzyme 2 (ACE2) in SARS coronavirus-induced lung injury.
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39. |
Martin MM et al. (2006) MicroRNA-155 regulates human angiotensin II type 1 receptor expression in fibroblasts.
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40. |
Gemmill RM et al. (1991) Report of the Second International Workshop on Human Chromosome 3 mapping.
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41. |
Crowley SD et al. (2006) Angiotensin II causes hypertension and cardiac hypertrophy through its receptors in the kidney.
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42. |
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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43. |
NCBI article
NCBI 185
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44. |
OMIM.ORG article
Omim 106165
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45. |
Orphanet article
Orphanet ID 138533
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Update: 14. August 2020