Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Forkhead-box Protein C1

Das FOXC1-Gen kodiert einen Transkriptionsfaktor der in eine frühe Entwicklungsphase der Augen eingreift. Mutation führen zur autosomal dominanten Axenfeld-Rieger Anomalie.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
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:

Axenfeld-Rieger Anomalie
FOXC1

Referenzen:

1.

Pearce WG et. al. (1982) Autosomal dominant iridogoniodysgenesis. A genetic and clinical study.

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2.

Pierrou S et. al. (1994) Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending.

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3.

Larsson C et. al. (1995) Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12).

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4.

Gould DB et. al. (1997) Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25.

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5.

Nishimura DY et. al. (1998) The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.

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6.

Kume T et. al. (1998) The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus.

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7.

Mears AJ et. al. (1998) Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.

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8.

Hong HK et. al. (1999) Pleiotropic skeletal and ocular phenotypes of the mouse mutation congenital hydrocephalus (ch/Mf1) arise from a winged helix/forkhead transcriptionfactor gene.

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9.

Mirzayans F et. al. (2000) Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25.

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10.

Smith RS et. al. (2000) Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development.

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11.

Lehmann OJ et. al. (2000) Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma.

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12.

Nishimura DY et. al. (2001) A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye.

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13.

Saleem RA et. al. (2001) Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1.

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14.

Kume T et. al. (2001) The murine winged helix transcription factors, Foxc1 and Foxc2, are both required for cardiovascular development and somitogenesis.

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15.

Lines MA et. al. (2002) Molecular genetics of Axenfeld-Rieger malformations.

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16.

Lehmann OJ et. al. (2002) Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.

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17.

Honkanen RA et. al. (2003) A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.

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18.

Libby RT et al. (2003) Modification of ocular defects in mouse developmental glaucoma models by tyrosinase.

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19.

Saleem RA et. al. (2003) Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1.

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20.

Maclean K et. al. (2005) Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome.

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21.

Descipio C et. al. (2005) Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.

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22.

Lin RJ et. al. (2005) Terminal deletion of 6p results in a recognizable phenotype.

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23.

Berry FB et. al. (2006) Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis.

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24.

Ito YA et. al. (2007) Analyses of a novel L130F missense mutation in FOXC1.

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25.

Zarbalis K et. al. (2007) Cortical dysplasia and skull defects in mice with a Foxc1 allele reveal the role of meningeal differentiation in regulating cortical development.

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26.

Berry FB et. al. (2008) FOXC1 is required for cell viability and resistance to oxidative stress in the eye through the transcriptional regulation of FOXO1A.

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27.

Weisschuh N et. al. (2008) A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly.

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28.

Chanda B et. al. (2008) A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.

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29.

Aldinger KA et. al. (2009) FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.

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30.

Fetterman CD et. al. (2009) Characterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis.

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31.

Omatsu Y et. al. (2014) Foxc1 is a critical regulator of haematopoietic stem/progenitor cell niche formation.

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