2012
DOI: 10.1186/2041-9414-3-6
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Dysfunctional telomeres in primary cells from Fanconi anemia FANCD2 patients

Abstract: BackgroundFanconi anemia (FA) is characterized by sensitivity to DNA cross-linking agents, mild cellular, and marked clinical radio sensitivity. In this study we investigated telomeric abnormalities of non-immortalized primary cells (lymphocytes and fibroblasts) derived from FA patients of the FA-D2 complementation group, which provides a more accurate physiological assessment than is possible with transformed cells or animal models.ResultsWe analyzed telomere length, telomere dysfunction-induced foci (TIFs), … Show more

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Cited by 33 publications
(22 citation statements)
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“…Knies and colleagues (KNIES et al, 2012) also pointed out that single heterozygous mutation in one FA gene may be accompanied by the heterozygous mutation in other FA genes and lead to the disease. Our previous detailed molecular-cytogenetic investigation of these patients showed that cases 1 and 2 in which 7 and 8 variants were found, respectively, developed, at the time of sampling, severe BMF, had shorter telomeres, more telomere fusions and radial figures and different chromosomal breakage pattern compared to other FA-D2 patients (JOKSIC et al, 2012;FILIPOVIC et al, 2016). This is consistent with Chang's statement that great number of variants reflects the susceptibility of FA pathway.…”
Section: Discussionsupporting
confidence: 88%
See 1 more Smart Citation
“…Knies and colleagues (KNIES et al, 2012) also pointed out that single heterozygous mutation in one FA gene may be accompanied by the heterozygous mutation in other FA genes and lead to the disease. Our previous detailed molecular-cytogenetic investigation of these patients showed that cases 1 and 2 in which 7 and 8 variants were found, respectively, developed, at the time of sampling, severe BMF, had shorter telomeres, more telomere fusions and radial figures and different chromosomal breakage pattern compared to other FA-D2 patients (JOKSIC et al, 2012;FILIPOVIC et al, 2016). This is consistent with Chang's statement that great number of variants reflects the susceptibility of FA pathway.…”
Section: Discussionsupporting
confidence: 88%
“…A total of 6 unrelated FA-D2 patients were included in this study. Diagnosis of FA was previously confirmed by a positive DEB test, Western blot analysis and correction of cellular phenotype with particular FANC genes (AUERBACH, 2009;SHIMAMURA et al, 2002), and an assignment to FA-D2 complementation group was previously reported (JOKSIC et al, 2012;VUJIC et al, 2014). This study was approved by The Ethical Committee of the Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic".…”
Section: Patientsmentioning
confidence: 82%
“…Many FA patients manifest progressive telomere shortening (42)(43)(44)(45)(46)(47)(48)(49)(50). Surprisingly, most FA knockout mice did not show pronounced telomeric defects (51).…”
Section: Significancementioning
confidence: 99%
“…Telomere dysfunction foci (TIFs) and short telomeres have been found in lymphocytes from patients with Fanconi anemia (FA) [ 348 ]. A subset of FA patients, carry mutations in FANCD2, a protein that interacts with telomeric DNA and regulates the levels of the shelterin component TRF1 [ 347 ].…”
Section: Telomeropathiesmentioning
confidence: 99%