1. 2C.07: INVOLVEMENT OF THE RENIN-ANGIOTENSIN SYSTEM IN A PREMATURE AGING MOUSE MODEL.

    Journal of Hypertension 33 Suppl 1:e26 (2015) PMID 26102775

    Changes in the renin-angiotensin system (RAS), known for its critical role in the regulation of blood pressure and sodium homeostasis, may contribute to aging and age-related diseases. Here we characterized the RAS and kidney pathology in mice with genomic instability due to a defective nucleoti...
  2. Rad54 is required for the normal development of male and female germ cells and contributes to the maintainance of their genome integrity after genotoxic stress.

    Cell Death and Disease 4:e774 (2013) PMID 23949223 PMCID PMC3763443

    Rad54 is an important factor in the homologous recombination pathway of DNA double-strand break repair. However, Rad54 knockout (KO) mice do not exhibit overt phenotypes at adulthood, even when exposed to radiation. In this study, we show that in Rad54 KO mouse the germline is actually altered. ...
  3. Rad54 is required for the normal development of male and female germ cells and contributes to the maintainance of their genome integrity after genotoxic stress.

    Cell Death and Disease 4:e774 (2013) PMID 23949223 PMCID PMC3763443

    Rad54 is an important factor in the homologous recombination pathway of DNA double-strand break repair. However, Rad54 knockout (KO) mice do not exhibit overt phenotypes at adulthood, even when exposed to radiation. In this study, we show that in Rad54 KO mouse the germline is actually altered. ...
  4. Opposite modifying effects of HR and NHEJ deficiency on cancer risk in Ptc1 heterozygous mouse cerebellum.

    Oncogene 30(47):4740 (2011) PMID 21602895

    Heterozygous Patched1 (Ptc1(+/-)) mice are prone to medulloblastoma (MB), and exposure of newborn mice to ionizing radiation dramatically increases the frequency and shortens the latency of MB. In Ptc1(+/-) mice, MB is characterized by loss of the normal remaining Ptc1 allele, suggesting that ge...
  5. Opposite modifying effects of HR and NHEJ deficiency on cancer risk in Ptc1 heterozygous mouse cerebellum.

    Oncogene 30(47):4740 (2011) PMID 21602895

    Heterozygous Patched1 (Ptc1(+/-)) mice are prone to medulloblastoma (MB), and exposure of newborn mice to ionizing radiation dramatically increases the frequency and shortens the latency of MB. In Ptc1(+/-) mice, MB is characterized by loss of the normal remaining Ptc1 allele, suggesting that ge...
  6. Disruption of maternal DNA repair increases sperm-derived chromosomal aberrations.

    PNAS 104(45):17725 (2007) PMID 17978187 PMCID PMC2077046

    Male and female germ cells can transmit genetic defects that lead to pregnancy loss, infant mortality, birth defects, and genetic diseases in offspring; however, the parental origins of transmitted defects are not random, with de novo mutations and chromosomal structural aberrations transmitted ...
  7. Disruption of maternal DNA repair increases sperm-derived chromosomal aberrations.

    PNAS 104(45):17725 (2007) PMID 17978187 PMCID PMC2077046

    Male and female germ cells can transmit genetic defects that lead to pregnancy loss, infant mortality, birth defects, and genetic diseases in offspring; however, the parental origins of transmitted defects are not random, with de novo mutations and chromosomal structural aberrations transmitted ...
  8. The structure-specific endonuclease Ercc1-Xpf is required for targeted gene replacement in embryonic stem cells.

    EMBO Journal 20(22):6540 (2001) PMID 11707424 PMCID PMC125716

    The Ercc1-Xpf heterodimer, a highly conserved structure-specific endonuclease, functions in multiple DNA repair pathways that are pivotal for maintaining genome stability, including nucleotide excision repair, interstrand crosslink repair and homologous recombination. Ercc1-Xpf incises double-st...
  9. The structure-specific endonuclease Ercc1-Xpf is required for targeted gene replacement in embryonic stem cells.

    EMBO Journal 20(22):6540 (2001) PMID 11707424 PMCID PMC125716

    The Ercc1-Xpf heterodimer, a highly conserved structure-specific endonuclease, functions in multiple DNA repair pathways that are pivotal for maintaining genome stability, including nucleotide excision repair, interstrand crosslink repair and homologous recombination. Ercc1-Xpf incises double-st...
  10. Homologous and non-homologous recombination differentially affect DNA damage repair in mice.

    EMBO Journal 19(7):1703 (2000) PMID 10747037 PMCID PMC310238

    Ionizing radiation and interstrand DNA crosslinking compounds provide important treatments against cancer due to their extreme genotoxicity for proliferating cells. Both the efficacies of such treatments and the mutagenic potential of these agents are modulated by the ability of cells to repair ...
  11. Homologous and non-homologous recombination differentially affect DNA damage repair in mice.

    EMBO Journal 19(7):1703 (2000) PMID 10747037 PMCID PMC310238

    Ionizing radiation and interstrand DNA crosslinking compounds provide important treatments against cancer due to their extreme genotoxicity for proliferating cells. Both the efficacies of such treatments and the mutagenic potential of these agents are modulated by the ability of cells to repair ...
  12. Mouse Rad54 affects DNA conformation and DNA-damage-induced Rad51 foci formation.

    Current Biology 9(6):325 (1999) PMID 10209103

    Error-free repair by homologous recombination of DNA double-strand breaks induced by ionizing radiation (IR) requires the Rad52 group proteins, including Rad51 and Rad54, in the yeast Saccharomyces cerevisiae [1]. The formation of a 'joint' molecule between the damaged DNA and the homologous rep...
  13. Mouse Rad54 affects DNA conformation and DNA-damage-induced Rad51 foci formation

    Current Biology 9(6):325 (1999)

    Error-free repair by homologous recombination of DNA double-strand breaks induced by ionizing radiation (IR) requires the Rad52 group proteins, including Rad51 and Rad54, in the yeast Saccharomyces cerevisiae[1]. The formation of a ‘joint’ molecule between the damaged DNA and the homol...
  14. Mouse Rad54 affects DNA conformation and DNA-damage-induced Rad51 foci formation.

    Current Biology 9(6):325 (1999) PMID 10209103

    Error-free repair by homologous recombination of DNA double-strand breaks induced by ionizing radiation (IR) requires the Rad52 group proteins, including Rad51 and Rad54, in the yeast Saccharomyces cerevisiae [1]. The formation of a 'joint' molecule between the damaged DNA and the homologous rep...
  15. The human RAD54 recombinational DNA repair protein is a double-stranded DNA-dependent ATPase.

    Journal of Biological Chemistry 273(43):28292 (1998) PMID 9774452

    DNA double-strand break repair through the RAD52 homologous recombination pathway in the yeast Saccharomyces cerevisiae requires, among others, the RAD51, RAD52, and RAD54 genes. The biological importance of homologous recombination is underscored by the conservation of the RAD52 pathway from fu...
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  16. The human RAD54 recombinational DNA repair protein is a double-stranded DNA-dependent ATPase.

    Journal of Biological Chemistry 273(43):28292 (1998) PMID 9774452

    DNA double-strand break repair through the RAD52 homologous recombination pathway in the yeast Saccharomyces cerevisiae requires, among others, the RAD51, RAD52, and RAD54 genes. The biological importance of homologous recombination is underscored by the conservation of the RAD52 pathway from fu...
    PDF not found
  17. Hypermutation of immunoglobulin genes in memory B cells of DNA repair-deficient mice.

    Journal of Experimental Medicine 187(11):1735 (1998) PMID 9607915 PMCID PMC2212309

    To investigate the possible involvement of DNA repair in the process of somatic hypermutation of rearranged immunoglobulin variable (V) region genes, we have analyzed the occurrence, frequency, distribution, and pattern of mutations in rearranged Vlambda1 light chain genes from naive and memory ...
  18. Hypermutation of immunoglobulin genes in memory B cells of DNA repair-deficient mice.

    Journal of Experimental Medicine 187(11):1735 (1998) PMID 9607915 PMCID PMC2212309

    To investigate the possible involvement of DNA repair in the process of somatic hypermutation of rearranged immunoglobulin variable (V) region genes, we have analyzed the occurrence, frequency, distribution, and pattern of mutations in rearranged Vlambda1 light chain genes from naive and memory ...
  19. Food plant toxicants and safety Risk assessment and regulation of inherent toxicants in plant foods.

    Environmental Toxicology and Pharmacology 5(3):155 (1998) PMID 21781862

    The ADI as a tool for risk management and regulation of food additives and pesticide residues is not readily applicable to inherent food plant toxicants: The margin between actual intake and potentially toxic levels is often small; application of the default uncertainty factors used to derive AD...
  20. Disruption of mouse RAD54 reduces ionizing radiation resistance and homologous recombination.

    Cell 89(2):195 (1997) PMID 9108475

    Double-strand DNA break (DSB) repair by homologous recombination occurs through the RAD52 pathway in Saccharomyces cerevisiae. Its biological importance is underscored by the conservation of many RAD52 pathway genes, including RAD54, from fungi to humans. We have analyzed the phenotype of mouse ...