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Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype

Article Abstract:

A consortium of American and European groups assigned Fanconi anemia to 29 patients to complementation group FA-D2 to study the hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2. The analysis found that total absence of FAND2 does not exist in FA-D2 patients because of constraints on viable combinations of FANCD2 mutations.

Author: Gluckman, Eliane, Grompe, Markus, Pals, Gerard, Joenje, Hans, Auerbach, Arleen D., Berwick, Marianne, Surralles, Jordi, Callen, Elsa, Kalb, Reinhard, Neveling, Kornelia, Hoehn, Holger, Schneider, Hildegard, Linka, Yvonne, Batish, Sat Dev, Hunt, Curtis, Casado, Jose A., Bueren, Juan, Dasi, Angeles, Soulier, Jean, van Spaendonk, Rosalina, de Winter, Johan P., Hanenberg, Helmut, Schindler, Detlev
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
Science & research, Research, Analysis, Gene mutations, Gene mutation, Fanconi's anemia, Immunoblotting

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Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice

Article Abstract:

Research has been conducted on Falconi anemia characterized by its hypersensitivity to DNA damage. The function of Fanconi anemia pathway has been investigated via the study of the distally acting Fanconi anemia gene Fancd2, and the mice homozygous phenotype for Fancd2 locus null allele has been analyzed.

Author: Grompe, Markus, Jones, Stephen N., Finegold, Milton J., Houghtailing, Scott, Timmers, Cynthia, Noll, Meenakshi, Meyn, M. Stephen
Publisher: Cold Spring Harbor Laboratory Press
Publication Name: Genes & Development
Subject: Biological sciences
ISSN: 0890-9369
Year: 2003
Canada, Causes of, Phenotype, Phenotypes, Allelomorphism, Alleles, Epithelium, Epithelial tumors, Epithelial tumours

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Two checkpoint complexes are independently recruited to sites of DNA damage in vivo

Article Abstract:

Results indicate that Ddc1 and Ddc2 are deployed to sites of DNA damage but their localilization to subnuclear foci differs. Ddc2 localization does not involve any checkpoint genes, whereas Ddc1 localization requires Rad17, Mec3, and Rad24 checkpoint genes.

Author: Melo, Justine A., Cohen, Jen, Toczyski, David P.
Publisher: Cold Spring Harbor Laboratory Press
Publication Name: Genes & Development
Subject: Biological sciences
ISSN: 0890-9369
Year: 2001
Genetic toxicology

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Subjects list: United States, DNA damage, Physiological aspects, Genetic aspects, Genetic regulation
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