Forkhead box protein C1
The FOXC1 gene encodes a transcription factor that is involved in early eye development. Mutations cause autosomal dominant Axenfeld-Rieger Anomalie.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
Nishimura DY et al. (1998) The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.
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2. |
Omatsu Y et al. (2014) Foxc1 is a critical regulator of haematopoietic stem/progenitor cell niche formation.
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3. |
Fetterman CD et al. (2009) Characterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis.
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4. |
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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5. |
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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6. |
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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7. |
Lin RJ et al. (2005) Terminal deletion of 6p results in a recognizable phenotype.
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8. |
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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9. |
Maclean K et al. (2005) Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome.
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10. |
Saleem RA et al. (2003) Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1.
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11. |
Libby RT et al. (2003) Modification of ocular defects in mouse developmental glaucoma models by tyrosinase.
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12. |
Lines MA et al. (2002) Molecular genetics of Axenfeld-Rieger malformations.
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13. |
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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14. |
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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15. |
Lehmann OJ et al. (2000) Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma.
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16. |
Smith RS et al. (2000) Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development.
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17. |
Kume T et al. (1998) The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus.
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18. |
Gould DB et al. (1997) Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25.
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19. |
Mears AJ et al. (1998) Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.
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20. |
Mirzayans F et al. (2000) Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25.
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21. |
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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22. |
Lehmann OJ et al. (2002) Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.
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23. |
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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24. |
Ito YA et al. (2007) Analyses of a novel L130F missense mutation in FOXC1.
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25. |
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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26. |
Chanda B et al. (2008) A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.
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27. |
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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28. |
Pearce WG et al. (1982) Autosomal dominant iridogoniodysgenesis. A genetic and clinical study.
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29. |
Pierrou S et al. (1994) Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending.
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30. |
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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31. |
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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32. |
Orphanet article
Orphanet ID 121883
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33. |
NCBI article
NCBI 2296
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34. |
OMIM.ORG article
Omim 601090
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35. |
Wikipedia article
Wikipedia EN (Forkhead_box_C1)
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Update: Aug. 14, 2020