Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The CHD1L gene encodes a DNA helicase involved in DNA repair. Mutations seem to be associated with urogenital malformations.
| 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 |
| 1. |
Ma NF et al. (2008) Isolation and characterization of a novel oncogene, amplified in liver cancer 1, within a commonly amplified region at 1q21 in hepatocellular carcinoma. 
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| 2. |
Ahel D et al. (2009) Poly(ADP-ribose)-dependent regulation of DNA repair by the chromatin remodeling enzyme ALC1.
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| 3. |
Gottschalk AJ et al. (2009) Poly(ADP-ribosyl)ation directs recruitment and activation of an ATP-dependent chromatin remodeler.
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| 4. |
Chen M et al. (2009) Transgenic CHD1L expression in mouse induces spontaneous tumors.
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| 5. |
Chen L et al. (2010) CHD1L promotes hepatocellular carcinoma progression and metastasis in mice and is associated with these processes in human patients.
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| 6. |
NCBI article NCBI 9557
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| 7. |
OMIM.ORG article Omim 613039
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| 8. |
Wikipedia article Wikipedia EN (CHD1L)
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