Search results for "Breakage"
showing 10 items of 33 documents
Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene
2013
International audience; Fanconi anaemia (FA) is characterized by progressive bone marrow failure, congenital anomalies, and predisposition to malignancy. In a minority of cases, FA results from biallelic FANCD1/BRCA2 mutations that are associated with early-onset leukaemia and solid tumours. Here, we describe the clinical and molecular features of a remarkable family presenting with multiple primary colorectal cancers (CRCs) without detectable mutations in genes involved in the Mendelian predisposition to CRCs. We unexpectedly identified, despite the absence of clinical cardinal features of FA, a biallelic mutation of the FANCD1/BRCA2 corresponding to a frameshift alteration (c.1845_1846del…
Four unrelated patients with lubs X-linked mental retardation syndrome and different Xq28 duplications
2010
The Lubs X-linked mental retardation syndrome (MRXSL) is caused by small interstitial duplications at distal Xq28 including the MECP2 gene. Here we report on four novel male patients with MRXSL and different Xq28 duplications delineated by microarray-based chromosome analysis. All mothers were healthy carriers of the duplications. Consistent with an earlier report [Bauters et al. (2008); Genome Res 18: 847-858], the distal breakpoints of all four Xq28 duplications were located in regions containing low-copy repeats (LCRs; J, K, and L groups), which may facilitate chromosome breakage and reunion events. The proximal breakpoint regions did not contain known LCRs. Interestingly, we identified …
Are there any differences in various polyaxial locking systems? A mechanical study of different locking screws in multidirectional angular stable dis…
2012
Numerous angular stable plates for the distal radius exist, and technically based comparisons of the polyaxial locking interfaces are lacking. The aim of this mechanical study was to investigate three different locking interfaces of angular stable volar plates by cantilever bending: VA-LCP Two-Column Distal Radius Plates 2.4 mm (Synthes® GmbH, Oberdorf, Switzerland), IXOS® P4 (Martin, Tuttlingen, Germany) and VariAX™ (Stryker®, Duisburg, Germany). We assessed the strength of 0°, 5°, 10° and 15° screw locking angles and tested the bending strength from 10° to 5° angles by cyclic loading until breakage. The final setup repeated the above assessments by inclusion of four locking screws. The si…
Mechanisms and consequences of methylating agent-induced SCEs and chromosomal aberrations: a long road traveled and still a far way to go.
2003
Since the milestone work of Evans and Scott, demonstrating the replication dependence of alkylation-induced aberrations, and Obe and Natarajan, pointing to the critical role of DNA double-strand breaks (DSBs) as the ultimate trigger of aberrations, the field has grown extensively. A notable example is the identification of DNA methylation lesions provoking chromosome breakage (clastogenic) effects, which made it possible to model clastogenic pathways evoked by genotoxins. Experiments with repair-deficient mutants and transgenic cell lines revealed both O<sup>6</sup>-methylguanine (O<sup>6</sup>MeG) and N- methylpurines as critical lesions. For S<sub>N</sub&g…
Organometallic complexes with biological molecules
2002
Novel triorganotin(IV) complexes of two beta-lactamic antibiotics, 6-[D-(-)-beta-amino-p-hydroxyphenyl-acetamido]penicillin (=amoxicillin) and 6-[D-(-)-alpha-aminobenzyl]penicillin (=ampicillin), have been synthesized and investigated both in solid and solution states. The complexes corresponded to the general formula R(3)Sn(IV)antib*H(2)O (R=Me, n-Bu, Ph; antib=amox=amoxicillinate or amp=ampicillinate). Structural investigations about configuration in the solid state have been carried out by interpreting experimental IR and 119Sn Mossbauer data. In particular, IR results suggested polymeric structures both for R(3)Sn(IV)amox.H(2)O and R(3)Sn(IV)amp*H(2)O. Moreover, both antibiotics appear …
Closed-loop bandwidth impact on MVSA for rotor broken bar diagnosis in IRFOC double squirrel cage induction motor drives
2013
This paper investigates the detectability of rotor broken bars in indirect rotor flux oriented control (IRFOC) for variable speed double cage induction motor drives, using vibration signature analysis techniques. The Impact of the closed loop control system cannot be neglected when the detection of rotor asymmetries in the machine is based on the signature analysis of electrical or mechanical variables. Therefore, the investigation of rotor fault components for different bandwidths of closed-loop regulators is necessary to evaluate its relevance in the above listed variables. This paper investigates the impact of the control system on relevance of the fault components computed from axial an…
Study of aerobic granular sludge stability in a continuous-flow membrane bioreactor.
2015
A granular continuous-flow membrane bioreactor with a novel hydrodynamic configuration was developed to evaluate the stability of aerobic granular sludge (AGS). Under continuous-flow operation (Period I), AGS rapidly lost their structural integrity resulting in loose and fluffy microbial aggregates in which filamentous bacteria were dominant. The intermittent feeding (Period II) allowed obtaining the succession of feast and famine conditions that favored the increase in AGS stability. Although no further breakage occurred, the formation of new granules was very limited, owing to the absence of the hydraulic selection pressure. These results noted the necessity to ensure, on the one hand the…
Spontaneous Endoreduplication, Tetraploidy and Chromosome Breakage in Lymphocyte Cultures from Healthy Subjects
1984
SUMMARY42,703 metaphases of peripheral lymphocytes from 20 healthy subjects (10 women and 10 men) were examined in order to establish the frequency of endoreduplicated cells and of tetraploid cells without diplochromosomes. Frequencies were found to be 0.016% and 0.112%, respectively. The two sexes did not differ as to the frequency of tetraploid cells, with and without diplochromosomes (about 0.13% in either sex). In a total of 2,135 well spread metaphases examined, 26 cells (i.e. 1.2%) with chromosomal breaks were found. Again, no significant differences between the two sexes were found as to such chromosome abnormalities.
Plasticity of human chromosome 3 during primate evolution.
2004
Comparative mapping of more than 100 region-specific clones from human chromosome 3 in Bornean and Sumatran orangutans, siamang gibbon, and Old and New World monkeys allowed us to reconstruct ancestral simian and hominoid chromosomes. A single paracentric inversion derives chromosome 1 of the Old World monkey Presbytis cristata from the simian ancestor. In the New World monkey Callithrix geoffroyi and siamang, the ancestor diverged on multiple chromosomes, through utilizing different breakpoints. One shared and two independent inversions derive Bornean orangutan 2 and human 3, implying that neither Bornean orangutans nor humans have conserved the ancestral chromosome form. The inversions, f…
De novo t(12;17)(p13.3;q21.3) translocation with a breakpoint near the 5' end of the HOXB gene cluster in a patient with developmental delay and skel…
2007
A boy with severe mental retardation, funnel chest, bell-shaped thorax, and hexadactyly of both feet was found to have a balanced de novo t(12;17)(p13.3;q21.3) translocation. FISH with BAC clones and long-range PCR products assessed in the human genome sequence localized the breakpoint on chromosome 17q21.3 to a 21-kb segment that lies <30 kb upstream of the HOXB gene cluster and immediately adjacent to the 3′ end of the TTLL6 gene. The breakpoint on chromosome 12 occurred within telomeric hexamer repeats and, therefore, is not likely to affect gene function directly. We propose that juxtaposition of the HOXB cluster to a repetitive DNA domain and/or separation from required cis-regulatory …