SIX homeobox 1
The protein encoded by the SIX1 gene is a is a transcription factor. Mutations in this gene cause branchiootic syndrome type 3 (BOS3) and autosomal dominant deafness type 23 (DFNA23).
Genetests:
Related Diseases:
References:
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Ruf RG et al. (2004) SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
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Ford HL et al. (1998) Abrogation of the G2 cell cycle checkpoint associated with overexpression of HSIX1: a possible mechanism of breast carcinogenesis.
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Boucher CA et al. (1996) Cloning of the human SIX1 gene and its assignment to chromosome 14.
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4. |
Oliver G et al. (1995) Homeobox genes and connective tissue patterning.
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Delgado-Olguín P et al. (2012) Epigenetic repression of cardiac progenitor gene expression by Ezh2 is required for postnatal cardiac homeostasis.
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6. |
Micalizzi DS et al. (2009) The Six1 homeoprotein induces human mammary carcinoma cells to undergo epithelial-mesenchymal transition and metastasis in mice through increasing TGF-beta signaling.
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7. |
McCoy EL et al. (2009) Six1 expands the mouse mammary epithelial stem/progenitor cell pool and induces mammary tumors that undergo epithelial-mesenchymal transition.
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8. |
Chai L et al. (2006) Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development.
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9. |
Grifone R et al. (2004) Six1 and Eya1 expression can reprogram adult muscle from the slow-twitch phenotype into the fast-twitch phenotype.
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10. |
Yu Y et al. (2004) Expression profiling identifies the cytoskeletal organizer ezrin and the developmental homeoprotein Six-1 as key metastatic regulators.
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11. |
Li X et al. (2003) Eya protein phosphatase activity regulates Six1-Dach-Eya transcriptional effects in mammalian organogenesis.
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12. |
Sharp R et al. (2002) Synergism between INK4a/ARF inactivation and aberrant HGF/SF signaling in rhabdomyosarcomagenesis.
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Buller C et al. (2001) Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome.
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14. |
Ridgeway AG et al. (2001) Pax3 is essential for skeletal myogenesis and the expression of Six1 and Eya2.
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15. |
Salam AA et al. (2000) A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred.
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16. |
Gallardo ME et al. (1999) Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies.
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17. |
Sanggaard KM et al. (2007) Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.
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18. |
Ruf RG et al. (2003) A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3.
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19. |
NCBI article
NCBI 6495
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20. |
OMIM.ORG article
Omim 601205
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21. |
Orphanet article
Orphanet ID 118723
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22. |
Wikipedia article
Wikipedia EN (SIX1)
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Update: Aug. 14, 2020