Notch-Homolog 2
Das NOTCH2-Gen kodiert einen membranständigen Rezeptor der für die Signaltransduktion in den Zellkern und damit zur Steuerung der Transkription verantwortlich ist. Mutationen führen zu den autosomal dominanten Erkrankungen Alagille-Syndrom 2 und Hajdu-Cheney-Syndrom. Bei beiden Erkrankungen werden urogenitale Fehlbildungen mit renalen Zysten gesehen.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
McDaniell R et al. (2006) NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.
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2. |
Rios AC et al. (2011) Neural crest regulates myogenesis through the transient activation of NOTCH.
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3. |
Wu Y et al. (2010) Therapeutic antibody targeting of individual Notch receptors.
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4. |
Riccio O et al. (2008) Loss of intestinal crypt progenitor cells owing to inactivation of both Notch1 and Notch2 is accompanied by derepression of CDK inhibitors p27Kip1 and p57Kip2.
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5. |
Krebs LT et al. (2003) Notch signaling regulates left-right asymmetry determination by inducing Nodal expression.
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6. |
Mitsiadis TA et al. (2003) Notch2 protein distribution in human teeth under normal and pathological conditions.
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7. |
Loomes KM et al. (2002) Characterization of Notch receptor expression in the developing mammalian heart and liver.
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8. |
Loomes KM et al. (1999) The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome.
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9. |
Gao X et al. (1998) Assignment of the murine Notch2 and Notch3 genes to chromosomes 3 and 17.
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10. |
Blaumueller CM et al. (1997) Intracellular cleavage of Notch leads to a heterodimeric receptor on the plasma membrane.
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11. |
Katsanis N et al. (1996) Paralogy mapping: identification of a region in the human MHC triplicated onto human chromosomes 1 and 9 allows the prediction and isolation of novel PBX and NOTCH loci.
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12. |
Larsson C et al. (1994) The human NOTCH1, 2, and 3 genes are located at chromosome positions 9q34, 1p13-p11, and 19p13.2-p13.1 in regions of neoplasia-associated translocation.
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13. |
Gray MJ et al. (2012) Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome.
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14. |
Majewski J et al. (2011) Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.
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15. |
Isidor B et al. (2011) Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
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16. |
Simpson MA et al. (2011) Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.
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17. |
Albano LM et al. (2007) Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients.
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18. |
Ramos FJ et al. (1998) Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity.
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19. |
Rosser EM et al. (1996) Serpentine fibula syndrome: expansion of the phenotype with three affected siblings.
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20. |
Kaplan P et al. (1995) Cystic kidney disease in Hajdu-Cheney syndrome.
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21. |
McCright B et al. (2001) Defects in development of the kidney, heart and eye vasculature in mice homozygous for a hypomorphic Notch2 mutation.
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22. |
NCBI article
NCBI 4853
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23. |
OMIM.ORG article
Omim 600275
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24. |
Orphanet article
Orphanet ID 123858
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Update: 14. August 2020