• Publications
  • Influence
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2
TLDR
PALB2-deficient cells showed hypersensitivity to cross-linking agents and lacked chromatin-bound BRCA2; these defects were corrected upon ectopic expression of PALB2 or by spontaneous reversion.
A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M
TLDR
FAAP250 or FANCM has sequence similarity to known DNA-repair proteins, including archaeal Hef, yeast MPH1 and human ERCC4 or XPF and may act as an engine that translocates the Fanconi anemia core complex along DNA.
A novel ubiquitin ligase is deficient in Fanconi anemia
TLDR
The data suggest that PHF9 has a crucial role in the Fanconi anemia pathway as the likely catalytic subunit required for monoubiquitination of FANCD2.
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J
TLDR
Findings in eight individuals with FA-J in the gene encoding the DEAH-box DNA helicase BRIP1 are identified, providing compelling evidence that the Fanconi anemia pathway functions through a direct physical interaction with DNA.
X-linked inheritance of Fanconi anemia complementation group B
TLDR
It is shown that the protein defective in individuals with Fanconi anemia belonging to complementation group B is an essential component of the nuclear protein 'core complex' responsible for monoubiquitination of FANCD2, a key event in the DNA-damage response pathway associated with Fanigo anemia and BRCA.
The Fanconi anaemia group G gene FANCG is identical with XRCC9
TLDR
The gene was identified as human XRCC9, a gene which has been shown to complement the MMC-sensitive Chinese hamster mutant UV40, and is suspected to be involved in DNA post-replication repair or cell cycle checkpoint control.
SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype
TLDR
These individuals, who were previously diagnosed as having Fanconi anemia, add SLX4 as an essential component to the FA-BRCA genome maintenance pathway.
Viral load, gene expression and mapping of viral integration sites in HPV16‐associated HNSCC cell lines
TLDR
All HPV16‐positive HNSCC cell lines showed integrated and/or episomal viral DNA that is transcriptionally active, although viral oncogene expression was independent of viral copy number and the number of viral integration sites.
The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM
TLDR
The gene mutated in Fanconi anaemia group F patients by complementation cloning is identified as FANCF, which has no introns and encodes a polypeptide with homology to the prokaryotic RNA binding protein ROM.
Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9
TLDR
A putative missense mutation, L71P, in a possible leucine zipper motif may affect FANCG binding of FANCA and seems to be associated with a milder clinical phenotype.
...
...