Chromosome Fragility

04/01/2009 - "The fine mechanisms by which alternative DNA structures induce phenomena such as repeat expansions, chromosomal fragility, or gross chromosomal rearrangements are under intensive studies. "
11/02/2023 - "The assessment of chromosomal fragility after exposure to DNA cross-linking agents is generally required to definitively confirm diagnosis. "
01/01/2019 - "The role of fork stalling and DNA structures in causing chromosome fragility."
01/01/2017 - "This chapter describes some of the important classes of repetitive DNA sequences in the mammalian genome, their ability to form secondary DNA structures, their contribution to replication fork stalling, and models for repeat expansion as well as chromosomal fragility. "
08/01/2015 - "It has long been known that DNA repeats are not only highly polymorphic in length but can also cause chromosomal fragility and stimulate gross chromosomal rearrangements, i.e., deletions, duplications, inversions, translocations and more complex shuffles. "

01/01/2023 - "The lack of hotspot conservation, along with a lack of response to aphidicolin, suggests that these breakage sites are not entirely analogous to CFS and may reveal new mechanisms of chromosome fragility. "
12/01/2000 - "Enhanced flexibility and aphidicolin-induced DNA breaks near mammalian replication origins: implications for replicon mapping and chromosome fragility."
09/01/1995 - "Characteristic chromosomal fragility of human embryonic cells exposed in vitro to aphidicolin."
01/01/1993 - "Analysis of aphidicolin-induced chromosome fragility in the domestic pig (Sus scrofa)."
04/01/1997 - "The results, in regard to spontaneous and aphidicolin induced chromosome aberrations, showed a significantly greater frequency (p < 0.001) of chromosome fragility, as well as other numerical and structural aberrations in breast cancer patients when compared to the control group. "

01/27/2023 - "The diagnosis of FA was performed using the mitomycin C chromosomal fragility test, clinical data and classical and molecular cytogenetic analyses. "
01/01/2017 - "Regarding biomonitoring, the 24 workers of the Radio-diagnostics Unit were enrolled to evaluate both spontaneous and mitomycin C-induced chromosomal fragility in human peripheral blood lymphocytes, by means of the cytokinesis-block micronucleus assay. "
07/05/2012 - "Chromosome fragility was normal in all 4 FAN1-deficient patients, although their cells showed mild sensitivity to mitomycin C in terms of cell survival and G(2) phase arrest, dissimilar in degree to FA cells. "
01/01/2002 - "The chromosome fragility with mitomycin C was increased in both the patient and his sibling, confirming a diagnosis of Fanconi anaemia. "
04/01/2011 - "Chromosome fragility induced by DNA interstrand crosslink (ICL)-inducing agents such as diepoxybutane (DEB) or mitomycin C (MMC) is the 'gold standard' test for the diagnosis of FA. "

10/01/1988 - "Spontaneous and diepoxybutane-induced chromosomal fragility was within the range of normal cells but was elevated through induction with 4-nitroquinoline-oxide. "
01/01/2019 - "These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM -/- patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. "
04/01/2011 - "Chromosome fragility induced by DNA interstrand crosslink (ICL)-inducing agents such as diepoxybutane (DEB) or mitomycin C (MMC) is the 'gold standard' test for the diagnosis of FA. "
01/01/2021 - "When compared with parental CAL27 and CAL33, FANCA-mutant cell clones displayed a FA-phenotype as they (i) are highly sensitive to DNA interstrand crosslink (ICL) agents such as mitomycin C (MMC) or cisplatin, (ii) do not monoubiquitinate FANCD2 upon MMC treatment and therefore (iii) do not form FANCD2 nuclear foci, and (iv) they display increased chromosome fragility and G2 arrest after diepoxybutane (DEB) treatment. "

01/01/2021 - "Overall, END-seq has provided a major technical advance for mapping DSBs and has also helped inform the biology of complex biological processes including genome organization, replication fork collapse and chromosome fragility, off-target identification of RAG recombinase and gene-editing nucleases, and DNA end resection at sites of DSBs."

05/01/1995 - "Moreover, we investigated bleomycin-induced chromosome fragility in both groups of HNCPs and in 21 additional healthy controls. "
12/01/1994 - "Lymphocytes exposed to the radiomimetic agent, bleomycin, were arrested in methaphase and analyzed for chromosome fragility. "
01/01/1997 - "In this study, we investigated bleomycin-induced chromosome fragility in 15 patients with laryngeal keratoses who experienced a malignant transformation of pre-neoplastic lesions during follow-up, as compared with chromosome fragility in 15 historical controls with no progression of laryngeal keratoses during a 10-year follow-up, in a match-paired analysis. "
12/11/1996 - "In this study, we investigated bleomycin-induced chromosome damage in 15 patients who experienced a malignant transformation of preneoplastic laryngeal lesions during follow-up, as compared with chromosome fragility in 30 historical controls with no progression of keratoses during a 10-year follow-up, in a match-paired analysis. "
08/01/2003 - "A non-significant difference was noticed in the frequency of CA between patients (acute & chronic) and control (n = 15), but on treatment of blood cultures with bleomycin (a radiomimetic agent with a DNA alkylating effect), the percentage of induced breakage and fragmentation increased significantly 2 and 3 folds in acute and chronic patients respectively, indicating increased chromosomal fragility. "

01/01/2018 - "FMR1 alleles with more than 200 CGG repeats bear chromosomal fragility when cells experience folate deficiency. "
04/01/1998 - "The peripheral blood (PB) lymphocyte chromosome fragility sensitive to folic acid and unstability was also analysed in 18 FDRs. "
12/19/1997 - "Under conditions of folate deprivation, the chromosomal fragility level, the pattern and the frequency of expression of fragile sites in XP patients and in their parents were similar to normal. "
12/19/1997 - "Spontaneous and folate-induced chromosomal fragility was analyzed in peripheral blood lymphocytes from 6 patients affected by the cancer-prone disease xeroderma pigmentosum (XP), from the parents of 4 of the patients, and from 12 normal subjects. "
02/01/1992 - "In a study of chromosome fragility carried out under folate and thymidine deficiency conditions, we observed a seven- to ninefold increase of the incidence of premature centromere divisions (PCDs) affecting all chromosomes. "

02/01/1992 - "In a study of chromosome fragility carried out under folate and thymidine deficiency conditions, we observed a seven- to ninefold increase of the incidence of premature centromere divisions (PCDs) affecting all chromosomes. "
06/01/1987 - "Our results demonstrate that the effect of uridine on chromosome fragility can be reversed by low concentrations of thymidine (2 microM up to 200 microM) and the "rescuing" effect of thymidine can be achieved if the cells were treated prior to 2-3 h before harvest. "
09/01/1988 - "The chromosomal fragility of peripheral blood lymphocytes from 50 women, undergoing operations for breast tumors (47 carcinomas, 2 intraductal papillomatoses and 1 malignant lymphoma) was studied to ascertain the association between chromosome fragility and epidemiologic data, such as a family or personal history of cancer, hormonal status, etc. Under conditions of folic acid and thymidine depletion, the average number of gaps and breaks on the patients' lymphocyte chromosome was 6.02 +/- 5.28 and that in the control medium was 2.0 +/- 2.0 while those of healthy controls were 5.8 +/- 5.5 and 1.36 +/- 1.22. "

04/01/1992 - "[Growth hormone therapy in STH deficiency with immunologic deficiency and chromosome fragility]."
05/01/2000 - "A study of chromosomal aberrations and chromosomal fragility after recombinant growth hormone treatment."
01/01/1998 - "In vitro effects of growth hormone (GH) and insulin-like growth factor I and II (IGF-I and -II) on chromosome fragility and p53 protein expression in human lymphocytes."

01/01/2018 - "Genetic complementation of patient-derived cells was performed by lentiviral mediated transduction of wild-type FANCM complementary DNA followed by functional studies.ResultsPatient-derived cells exhibited chromosomal fragility, hypersensitivity to interstrand crosslinks, and impaired FANCD2 monoubiquitination. "

08/01/2013 - "The chromosomal fragility of patients with FA necessitates careful planning of therapy and monitoring, and awareness of this rare disorder is crucial to recognizing it in the clinic. "
05/01/2000 - "We find no evidence that GH therapy influences spontaneous chromosomal aberrations or chromosomal fragility."
12/01/2018 - "This review summarizes current therapies and drugs used so far in clinical trials to treat Fanconi anemia, as well as the ones used in FA research with potential for future therapeutic opportunities including drugs that suppress chromosome fragility or are expected to delay the onset of BMF and cancer in Fanconi anemia."
04/01/1992 - "[Growth hormone therapy in STH deficiency with immunologic deficiency and chromosome fragility]."
06/01/1993 - "Since it is known that the tendency to develop cancer is closely related to chromosome breakage, we decided to investigate whether recombinant human growth hormone (rhGH) therapy can increase chromosome fragility. "

03/01/2003 - "Chromosomal fragility syndrome and family history of radiosensitivity as indicators for radiotherapy dose modification."
02/01/2001 - "Probes were obtained from 105 healthy blood donors, 48 cancer patients displaying normal sensitivity to radiotherapy, 12 cancer patients displaying hypersensitivity to radiotherapy, 12 Ataxia telangiectasia blood donors, and 4 additional individuals with genetic diseases of potentially modified radiosensitivity; 2 neurofibromatosis (NF) donors, a Nijmegen breakage syndrome (NBS) donor, and an Immunodeficiency, Chromosome fragility, Facial anomaly syndrome (ICF) donor. "

08/01/2002 - "Fanconi anaemia (FA) is a rare genetic syndrome of cancer susceptibility characterized by spontaneous and induced chromosome fragility, especially after treatment with cross-linking agents. "
11/01/2013 - "High frequency of chromosome fragility persisted by treatment with peptide bioregulator in both cases - before and after treatment. "

09/01/1988 - "It is suggested that an association exists between a chromosome fragility at 1p36, in this case postoperatively induced in vivo by chemoradiotherapy, and the development of neuroblastoma."

01/01/2018 - "They show a heterogeneous phenotype including cancer predisposition, toxicity to chemotherapy, early menopause, and possibly chromosome fragility. "
01/01/2018 - "Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility."