Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Angiotensin II-Rezeptor Typ 2

Das AGTR2-Gen kodiert einen G-Protin-Rezeptor für Angiotensin II. Dieses Gen wird besonders inder Embryonalentwicklung exprimiert und besitzt hier einen Bedeutung bei der Apoptose. Mutationen sind mit x-chromosomaler mentaler Retardierung assoziiert.

Diagnostik:

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

Krankheiten:

Referenzen:

1.

Caruso-Neves C et. al. (2005) Albumin endocytosis in proximal tubule cells is modulated by angiotensin II through an AT2 receptor-mediated protein kinase B activation.

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2.

Hein L et. al. (1995) Behavioural and cardiovascular effects of disrupting the angiotensin II type-2 receptor in mice.

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3.

Ichiki T et. al. (1995) Effects on blood pressure and exploratory behaviour of mice lacking angiotensin II type-2 receptor.

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4.

Tissir F et. al. (1995) Localization of the genes encoding the three rat angiotensin II receptors, Agtr1a, Agtr1b, Agtr2, and the human AGTR2 receptor respectively to rat chromosomes 17q12, 2q24 and Xq34, and the human Xq22.

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5.

Lazard D et. al. (1994) Molecular characterization and chromosome localization of a human angiotensin II AT2 receptor gene highly expressed in fetal tissues.

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6.

Chassagne C et. al. (1995) Assignment of the human angiotensin II type 2 receptor gene (AGTR2) to chromosome Xq22-q23 by fluorescence in situ hybridization.

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7.

Koike G et. al. (1994) Human type 2 angiotensin II receptor gene: cloned, mapped to the X chromosome, and its mRNA is expressed in the human lung.

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8.

Yamada T et. al. (1996) Angiotensin II type 2 receptor mediates programmed cell death.

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9.

Nishimura H et. al. (1999) Role of the angiotensin type 2 receptor gene in congenital anomalies of the kidney and urinary tract, CAKUT, of mice and men.

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10.

Vervoort VS et. al. (2002) AGTR2 mutations in X-linked mental retardation.

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11.

Bienvenu T et. al. (2003) Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation.

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12.

Ylisaukko-oja T et. al. (2004) Identification of two AGTR2 mutations in male patients with non-syndromic mental retardation.

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13.

Erdmann J et. al. (2004) The assertion that a G21V mutation in AGTR2 causes mental retardation is not supported by other studies.

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14.

Batenburg WW et. al. (2004) Angiotensin II type 2 receptor-mediated vasodilation in human coronary microarteries.

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15.

Nouet S et. al. (2004) Trans-inactivation of receptor tyrosine kinases by novel angiotensin II AT2 receptor-interacting protein, ATIP.

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16.

Huang D et. al. (2005) Sequence variations in AGTR2 are unlikely to be associated with X-linked mental retardation.

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17.

Piton A et. al. (2013) XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.

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18.

Marion E et. al. (2014) Mycobacterial toxin induces analgesia in buruli ulcer by targeting the angiotensin pathways.

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