Roundabout-Homolog 2
Das ROBO2-Gen kodiert einen transmembranösen Rezeptor. Mutationen sind für autosomal dominanten vesicoureteralen Reflux 2 verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Lu W et al. (2007) Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.
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2. |
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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3. |
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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4. |
Fricke C et al. (2001) astray, a zebrafish roundabout homolog required for retinal axon guidance.
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5. |
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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6. |
Grieshammer U et al. (2004) SLIT2-mediated ROBO2 signaling restricts kidney induction to a single site.
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7. |
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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8. |
Xiao T et al. (2011) Assembly of lamina-specific neuronal connections by slit bound to type IV collagen.
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9. |
NCBI article
NCBI 6092
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10. |
OMIM.ORG article
Omim 602431
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11. |
Orphanet article
Orphanet ID 289371
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Update: 14. August 2020