FANCONI ANEMIA, COMPLEMENTATION GROUP J

Known as: FANCJ 
Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.
National Institutes of Health

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AnemiaBACH1 geneBRIP1 wt AlleleBRIP1, ARG798TER
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Fanconi Anemia

Papers overview

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Highly Cited
2014
Highly Cited
2014
Detection of G-quadruplex DNA in mammalian cells
It has been proposed that guanine-rich DNA forms four-stranded structures in vivo called G-quadruplexes or G4 DNA. G4 DNA has… (More)
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2014
2014
Crosstalk between BRCA-Fanconi anemia and mismatch repair pathways prevents MSH2-dependent aberrant DNA damage responses
Several proteins in the BRCA-Fanconi anemia (FA) pathway, such as FANCJ, BRCA1, and FANCD2, interact with mismatch repair (MMR… (More)
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2013
2013
Specialization among iron-sulfur cluster helicases to resolve G-quadruplex DNA structures that threaten genomic stability.
G-quadruplex (G4) DNA, an alternate structure formed by Hoogsteen hydrogen bonds between guanines in G-rich sequences, threatens… (More)
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2011
2011
Interaction between the helicases genetically linked to Fanconi anemia group J and Bloom's syndrome.
Bloom's syndrome (BS) and Fanconi anemia (FA) are autosomal recessive disorders characterized by cancer and chromosomal… (More)
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2010
2010
Fanconi anemia group J mutation abolishes its DNA repair function by uncoupling DNA translocation from helicase activity or disruption of protein-DNA complexes.
Fanconi anemia (FA) is a genetic disease characterized by congenital abnormalities, bone marrow failure, and susceptibility to… (More)
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Review
2009
Review
2009
The Fanconi anemia/BRCA gene network in zebrafish: embryonic expression and comparative genomics.
Fanconi anemia (FA) is a genetic disease resulting in bone marrow failure, high cancer risks, and infertility, and developmental… (More)
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Highly Cited
2008
Highly Cited
2008
FANCJ helicase defective in Fanconia anemia and breast cancer unwinds G-quadruplex DNA to defend genomic stability.
FANCJ mutations are associated with breast cancer and genetically linked to the bone marrow disease Fanconi anemia (FA). The… (More)
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Highly Cited
2008
Highly Cited
2008
Analysis of FANCB and FANCN/PALB2 Fanconi Anemia genes in BRCA1/2-negative Spanish breast cancer families
Recent reports have shown that mutations in the FANCJ/BRIP1 and FANCN/PALB2 Fanconi Anemia (FA) genes confer a moderate breast… (More)
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Highly Cited
2005
Highly Cited
2005
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J
The protein predicted to be defective in individuals with Fanconi anemia complementation group J (FA-J), FANCJ, is a missing… (More)
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Highly Cited
2005
Highly Cited
2005
BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ.
We showed in this study that cells deficient of the BRCA1-associated BACH1 helicase, also known as BRIP1, failed to elicit… (More)
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