Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

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:

Alagille-Syndrom 2
NOTCH2
Hajdu-Cheney-Syndrom
NOTCH2

Referenzen:

1.

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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2.

Kaplan P et. al. (1995) Cystic kidney disease in Hajdu-Cheney syndrome.

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3.

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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4.

Rosser EM et. al. (1996) Serpentine fibula syndrome: expansion of the phenotype with three affected siblings.

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5.

Blaumueller CM et. al. (1997) Intracellular cleavage of Notch leads to a heterodimeric receptor on the plasma membrane.

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6.

Gao X et. al. (1998) Assignment of the murine Notch2 and Notch3 genes to chromosomes 3 and 17.

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7.

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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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.

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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10.

Loomes KM et. al. (2002) Characterization of Notch receptor expression in the developing mammalian heart and liver.

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11.

Mitsiadis TA et. al. (2003) Notch2 protein distribution in human teeth under normal and pathological conditions.

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12.

Krebs LT et. al. (2003) Notch signaling regulates left-right asymmetry determination by inducing Nodal expression.

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13.

McDaniell R et. al. (2006) NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.

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14.

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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15.

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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16.

Wu Y et. al. (2010) Therapeutic antibody targeting of individual Notch receptors.

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17.

Simpson MA et. al. (2011) Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.

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18.

Isidor B et. al. (2011) Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.

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19.

Rios AC et. al. (2011) Neural crest regulates myogenesis through the transient activation of NOTCH.

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20.

Majewski J et. al. (2011) Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.

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21.

Gray MJ et. al. (2012) Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome.

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