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  1. No Access

    Article

    Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer

    Fanconi anaemia (FA), a model syndrome of genome instability, is caused by a deficiency in DNA interstrand crosslink repair resulting in chromosome breakage1–3. The FA repair pathway protects against endogenous a...

    Andrew L. H. Webster, Mathijs A. Sanders, Krupa Patel, Ralf Dietrich… in Nature (2022)

  2. Article

    Mutation (variation) databases and registries: a rationale for coordination of efforts

    Arleen D. Auerbach, John Burn, Jean-Jacques Cassiman… in Nature Reviews Genetics (2011)

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  3. No Access

    Article

    Clarity and claims in variation/mutation databasing

    Raymond Dalgleish, William S Oetting, Arleen D Auerbach… in Nature Biotechnology (2011)

  4. No Access

    Article

    Mutations of the SLX4 gene in Fanconi anemia

    Agata Smogorzewska and colleagues report mutations in SLX4 in a new subtype of Fanconi anemia. SLX4 is an endonuclease involved in DNA maintenance and repair.

    Yonghwan Kim, Francis P Lach, Rohini Desetty, Helmut Hanenberg… in Nature Genetics (2011)

  5. No Access

    Article

    FANCJ/BRIP1 recruitment and regulation of FANCD2 in DNA damage responses

    FANCJ/BRIP1 encodes a helicase that has been implicated in the maintenance of genomic stability. Here, to better understand FANCJ function in DNA damage responses, we have examined the regulation of its cellul...

    Fan Zhang, Qiang Fan, Keqin Ren, Arleen D. Auerbach, Paul R. Andreassen in Chromosoma (2010)

  6. No Access

    Article

    FANCI is a second monoubiquitinated member of the Fanconi anemia pathway

    Activation of the Fanconi anemia (FA) DNA damage–response pathway results in the monoubiquitination of FANCD2, which is regulated by the nuclear FA core ubiquitin ligase complex. A FANCD2 protein sequence–base...

    Ashley E Sims, Elizabeth Spiteri… in Nature Structural & Molecular Biology (2007)

  7. No Access

    Article

    Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

    PALB2 was recently identified as a nuclear binding partner of BRCA2. Biallelic BRCA2 mutations cause Fanconi anemia subtype FA-D1 and predispose to childhood malignancies. We identified pathogenic mutations in PA...

    Sarah Reid, Detlev Schindler, Helmut Hanenberg, Karen Barker… in Nature Genetics (2007)

  8. No Access

    Article

    The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia

    Seven Fanconi anemia–associated proteins (FANCA, FANCB, FANCC, FANCE, FANCF, FANCG and FANCL) form a nuclear Fanconi anemia core complex that activates the monoubiquitination of FANCD2, targeting FANCD2 to BRC...

    Orna Levran, Claire Attwooll, Rashida T Henry, Kelly L Milton… in Nature Genetics (2005)

  9. No Access

    Article

    Fanconi anemia in Ashkenazi Jews

    Fanconi anemia (FA) should be included among the genetic diseases that occur at high frequency in the Ashkenazi Jewish population. FA exhibits extensive genetic heterogeneity; there are currently 11 complement...

    David I. Kutler, Arleen D. Auerbach in Familial Cancer (2004)

  10. No Access

    Article

    Positional cloning of the Fanconi anaemia group A gene

    The Fanconi anaemia/Breast cancer consortium* Fanconi anaemia (FA) is an autosomal recessive disorder associated with progressive bone-marrow failure, a variety of congenital abnormalities, and predisposition ...

    Sinoula Apostolou, Scott A. Whitmore, Joanna Crawford, Gregory Lennon… in Nature Genetics (1996)

  11. No Access

    Chapter

    Cytogenetics in Constitutional Aplastic Anemia

    The diagnosis of aplastic anemia is based on the presence of pancytopenia combined with bone marrow hypocellularity. Aplastic anemia may be acquired or constitutional; in either case its occurrence may be indi...

    Arleen D. Auerbach in Aplastic Anemia and Other Bone Marrow Failure Syndromes (1990)

  12. No Access

    Article

    Clastogen-induced chromosomal breakage as a marker for first trimester prenatal diagnosis of Fanconi anemia

    Using cultured trophoblast cells obtained by chorionic villus biopsy, we diagnosed Fanconi anemia (FA) in two pregnancies and excluded it in eight pregnancies at risk for the syndrome. Baseline chromosomal bre...

    Arleen D. Auerbach, Zhang Min, Rita Ghosh, Eugene Pergament… in Human Genetics (1986)

  13. No Access

    Article

    First announcement of the Fanconi anemia International Registry

    Arleen D. Auerbach, Traute M. Schroeder in Human Genetics (1982)

  14. No Access

    Article

    Carcinogen-induced chromosome breakage in Fanconi's anaemia heterozygous cells

    FANCONI'S anaemia (FA) is one of the genetic syndromes in which chromosomal instability has been associated with an increased predisposition to cancer1. An increased risk of malignancy has also been reported for ...

    ARLEEN D. AUERBACH, SANDRA R. WOLMAN in Nature (1978)

  15. No Access

    Article

    Susceptibility of Fanconi's anaemia fibroblasts to chromosome damage by carcinogens

    INDIVIDUALS with certain genetic syndromes associated with chromosome damage show markedly increased incidence of cancer1. In one such syndrome, Fanconi's anaemia (FA), chromosomal breakage and rearrangement has ...

    ARLEEN D. AUERBACH, SANDRA R. WOLMAN in Nature (1976)