Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Fanconi-assoziierte Nuklease 1

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.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Karyomegale interstitielle Nephritis
FAN1

Referenzen:

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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