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
|
||||
|
Branchiootorenal dysplasia 1
|
|||
|
|
EYA1
|
||
|
|
Branchiootorenal dysplasia 2
|
|||
|
|
|
SIX5
|
||
|
SIX2
|
|||
|
Townes-Brocks branchiootorenal-like syndrome
|
|||
|
|
|
SALL1
|
||
|
|
|
|
|
| 1. |
Oliver G et al. (1995) Homeobox genes and connective tissue patterning. 
|
| 2. |
Boucher CA et al. (2000) Structure, mapping and expression of the human gene encoding the homeodomain protein, SIX2.
|
| 3. |
Mao Z et al. (2017) TβRII Regulates the Proliferation of Metanephric Mesenchyme Cells through Six2 In Vitro.
|
| 4. |
Chung E et al. (2016) Notch signaling promotes nephrogenesis by downregulating Six2.
|
| 5. |
Liu J et al. (2016) Six2 Is a Coordinator of LiCl-Induced Cell Proliferation and Apoptosis.
|
| 6. |
Guan J et al. (2016) SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans.
|
| 7. |
None () Correction: Postembryonic Nephrogenesis and Persistence of Six2-Expressing Nephron Progenitor Cells in the Reptilian Kidney.
|
| 8. |
NCBI article NCBI 10736
|
| 9. |
OMIM.ORG article Omim 604994
|
| 10. |
Orphanet article Orphanet ID 496461
|
| 11. |
Wikipedia article Wikipedia EN (SIX2)
|
 |
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944 Sitemap | Webmail | Disclaimer | Privacy Issues |