Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Roundabout-Homolog 2

Das ROBO2-Gen kodiert einen transmembranösen Rezeptor. Mutationen sind für autosomal dominanten vesicoureteralen Reflux 2 verantwortlich.

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:

Familiärer vesicoureteraler Reflux 2
ROBO2

Referenzen:

1.

Kidd T et. al. (1998) Roundabout controls axon crossing of the CNS midline and defines a novel subfamily of evolutionarily conserved guidance receptors.

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2.

Nagase T et. al. (2000) Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

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3.

Fricke C et. al. (2001) astray, a zebrafish roundabout homolog required for retinal axon guidance.

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4.

Bagri A et. al. (2002) Slit proteins prevent midline crossing and determine the dorsoventral position of major axonal pathways in the mammalian forebrain.

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5.

Grieshammer U et. al. (2004) SLIT2-mediated ROBO2 signaling restricts kidney induction to a single site.

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6.

Yue Y et. al. (2006) Isolation and differential expression of two isoforms of the ROBO2/Robo2 axon guidance receptor gene in humans and mice.

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7.

Lu W et. al. (2007) Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.

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8.

Xiao T et. al. (2011) Assembly of lamina-specific neuronal connections by slit bound to type IV collagen.

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