Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The SIX2 gene encodes a transcription factor that is involved in development of the renal and hearing systems.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
Branchiootorenal dysplasia
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Branchiootorenal dysplasia 1
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EYA1
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Branchiootorenal dysplasia 2
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SIX5
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SIX2
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Townes-Brocks branchiootorenal-like syndrome
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SALL1
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| 1. |
Oliver G et al. (1995) Homeobox genes and connective tissue patterning. 
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| 2. |
Boucher CA et al. (2000) Structure, mapping and expression of the human gene encoding the homeodomain protein, SIX2.
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| 3. |
Mao Z et al. (2017) TβRII Regulates the Proliferation of Metanephric Mesenchyme Cells through Six2 In Vitro.
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| 4. |
Chung E et al. (2016) Notch signaling promotes nephrogenesis by downregulating Six2.
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| 5. |
Liu J et al. (2016) Six2 Is a Coordinator of LiCl-Induced Cell Proliferation and Apoptosis.
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| 6. |
Guan J et al. (2016) SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans.
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| 7. |
None () Correction: Postembryonic Nephrogenesis and Persistence of Six2-Expressing Nephron Progenitor Cells in the Reptilian Kidney.
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| 8. |
NCBI article NCBI 10736
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| 9. |
OMIM.ORG article Omim 604994
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| 10. |
Orphanet article Orphanet ID 496461
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| 11. |
Wikipedia article Wikipedia EN (SIX2)
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