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Showing 1 to 9 of 9 for “"Fanconi anaemia"”.
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Loss of rad51 in zebrafish (Danio rerio): a novel Fanconi anaemia model
… over. It has recently been designated as a Fanconi anaemia (FA) gene, following the discovery of two patients carrying dominant negative mutations. FA is a hereditary DNA repair disorder characterised by various congenital abnormalities, progressive bone marrow failure and cancer …
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Fanconi Anaemia DNA crosslink repair factors protect against LINE-1 retrotransposition during mammalian development
… Here, using reverse genetics, I show that Fanconi Anaemia DNA inter-strand crosslink (FA ICL) repair factors act in concert to restrict LINE-1 retrotransposition. Moreover, by purifying the recombinant FA ICL repair incision complex (SLX4-XPF-ERCC1), I show that it can cleave intermediates …
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The p97 cofactors UBXN7 and UBXN8 interact with and modulate the function of cullin-RING complexes and Fanconi anaemia proteins FANCD2/FANCI, respectively
… DNA damage-related proteins, including the Fanconi anaemia proteins FANCD2 and FANCI. I could show that homodimeric UBXN8 interacts directly with non-ubiquitylated FANCD2 and FANCI. The direct binding of UBXN8 to the non-ubiquitylated FA proteins supports the notion that UBX-only proteins …
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Aldehyde-driven transcriptional stress triggers an anorexic DNA damage response
… XPF-ERCC1. This nuclease operates in the Fanconi Anaemia (FA) pathway and Nucleotide excision repair (NER). Unexpectedly, ablation of these two DNA repair pathways does not result in equivalent cellular or mouse phenotypes. However, these two pathways do appear to play independent roles in …
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Defining the role of endonuclease VIII-like 1 and 3 in the repair of interstrand crosslinks in cancer cells
Fanconi Anaemia (FA) is an inherited autosomal-recessive disorder that can lead to abnormal development, bone-marrow failure, and an increased vulnerability to carcinogenesis. Cells derived from FA patients are unusually sensitive to DNA crosslinking agents and it is now known that FA cells lack …
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DNA crosslink repair safeguards genomic stability during pre-meiotic germ cell development
… the structure-specific endonuclease XPF-ERCC1 in Fanconi-mediated DNA crosslink repair during germ cell development in utero. Inactivation of Fanconi-mediated DNA repair results in an almost complete loss of gamete production in mice. This repair pathway is critical for the normal development of …
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Zellzyklusdiagnostik bei Fanconi Anämie
… vorliegenden Arbeit werden die Ergebnisse der Fanconi Anämie Diagnostik am Humangenetischen Institut der Universität Würzburg des Jehres 1999 analysiert und validiert.
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Zellzykluseffekte von Mitomycin C
… mit den endogenen Störungen des Zellzyklus bei Fanconi-Anämie in unterschiedlichen Zellsystemen (periphere Blutlymphozyten, lymphoblastoide Zellen und Fibroblasten) verglichen werden. Die Zellzyklusanalysen wurden mit der zweidimensionalen Durchflusszytometrie nach dem BrdU/Hoechst …
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Mosaikbildung bei Fanconi-Anämie
Die Fanconi-Anämie ist eine autosomal-rezessiv vererbte Krankheit, die mit progredientem Knochenmarksversagen, Fehlbildungen und Tumoren einhergeht. Diagnostiziert wird diese Krankheit durch eine vermehrte Chromosomenbrüchigkeit nach Behandlung mit Diepoxybutan oder Mitomycin C oder durch einen …