Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Das FAN1-Gen kodiert eine cysteinreiche Tyrosinphosphatase, welche an der an der Reparatur von DNA-SChäden beteiligt zu sein scheint. Mutationen sind für die autosomal rezessive tubulointerstitielle Nephritis mit Karyomegalie verantwortlich.
| Klinisch | Untersuchungsmethoden | Familienuntersuchung |
| Bearbeitungszeit | 5 Tage | |
| Probentyp | genomische DNS |
| Klinisch | Untersuchungsmethoden | Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens |
| Bearbeitungszeit | 25 Tage | |
| Probentyp | genomische DNS |
| 1. |
Nagase T et al. (1999) Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. 
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| 2. |
Spoendlin M et al. (1995) Karyomegalic interstitial nephritis: further support for a distinct entity and evidence for a genetic defect.
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| 3. |
Godin M et al. (1996) Karyomegalic interstitial nephritis.
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| 4. |
Baba F et al. (2006) Karyomegalic tubulointerstitial nephritis--a case report.
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| 5. |
Cannavo E et al. (2007) Characterization of the interactome of the human MutL homologues MLH1, PMS1, and PMS2.
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| 6. |
Palmer D et al. (2007) Karyomegalic interstitial nephritis: a pitfall in urine cytology.
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| 7. |
MacKay C et al. (2010) Identification of KIAA1018/FAN1, a DNA repair nuclease recruited to DNA damage by monoubiquitinated FANCD2.
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| 8. |
Kratz K et al. (2010) Deficiency of FANCD2-associated nuclease KIAA1018/FAN1 sensitizes cells to interstrand crosslinking agents.
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| 9. |
Smogorzewska A et al. (2010) A genetic screen identifies FAN1, a Fanconi anemia-associated nuclease necessary for DNA interstrand crosslink repair.
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| 10. |
Verine J et al. (2010) [Karyomegalic interstitial nephritis: A new French case].
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| 11. |
Liu T et al. (2010) FAN1 acts with FANCI-FANCD2 to promote DNA interstrand cross-link repair.
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| 12. |
Zhou W et al. (2012) FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.
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| 13. |
Wang R et al. (2014) DNA repair. Mechanism of DNA interstrand cross-link processing by repair nuclease FAN1.
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| 14. |
OMIM.ORG article Omim 613534
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| 15. |
Orphanet article Orphanet ID 308114
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| 16. |
NCBI article NCBI 22909
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