Matches in SemOpenAlex for { <https://semopenalex.org/work/W2024552334> ?p ?o ?g. }
- W2024552334 endingPage "1796" @default.
- W2024552334 startingPage "1785" @default.
- W2024552334 abstract "To review the discovery of chromothripsis and analyze its impact on human reproduction.Database and literature analysis.University hospital.Carriers of massive and complex chromosomal rearrangements.Cytogenetic analysis and molecular testing (fluorescence in situ hybridization, microarray, whole-genome sequencing).Chromothripsis occurrence in human gametes and preimplantation embryos, with regard to the potential causative mechanisms described in literature.Databases were searched for the literature published up to March 2014. Chromothripsis is characterized by the shattering of one (or a few) chromosome segments followed by a haphazard reassembly of the fragments generated, arising through a single initial catastrophic event. Several mechanisms involving abortive apoptosis, telomere erosion, mitotic errors, micronuclei formation, and p53 inactivation might cause chromothripsis. The remarkable point is that all these plausible mechanisms have been identified in the field of human reproduction as causal factors for reproductive failures and the genesis of chromosomal abnormalities. Specific features of gametogenesis and early embryonic development such as the weakness of cell cycle and mitosis checkpoints and the rapid kinetics of division in germ cells and early cleavage embryos may contribute to the emergence of chromothripsis.The discovery of this new class of massive chromosomal rearrangement has deeply modified our understanding on the genesis of complex genomic rearrangements. Data presented in this review support the assumption that chromothripsis could operate in human germlines and during early embryonic development. Chromothripsis might arise more frequently than previously thought in both gametogenesis and early human embryogenesis." @default.
- W2024552334 created "2016-06-24" @default.
- W2024552334 creator A5038361626 @default.
- W2024552334 creator A5041512390 @default.
- W2024552334 creator A5069405052 @default.
- W2024552334 creator A5078387575 @default.
- W2024552334 creator A5083078890 @default.
- W2024552334 date "2014-12-01" @default.
- W2024552334 modified "2023-09-27" @default.
- W2024552334 title "Chromothripsis: potential origin in gametogenesis and preimplantation cell divisions. A review" @default.
- W2024552334 cites W1505909540 @default.
- W2024552334 cites W1532786490 @default.
- W2024552334 cites W1650797637 @default.
- W2024552334 cites W1853857034 @default.
- W2024552334 cites W1965113254 @default.
- W2024552334 cites W1968206926 @default.
- W2024552334 cites W1969503475 @default.
- W2024552334 cites W1969665013 @default.
- W2024552334 cites W1974549850 @default.
- W2024552334 cites W1975499443 @default.
- W2024552334 cites W1980792888 @default.
- W2024552334 cites W1981816841 @default.
- W2024552334 cites W1982674658 @default.
- W2024552334 cites W1984608154 @default.
- W2024552334 cites W1985321972 @default.
- W2024552334 cites W1986559385 @default.
- W2024552334 cites W1986612378 @default.
- W2024552334 cites W1990284991 @default.
- W2024552334 cites W1990347487 @default.
- W2024552334 cites W1990774616 @default.
- W2024552334 cites W1990902951 @default.
- W2024552334 cites W1991023750 @default.
- W2024552334 cites W1993940772 @default.
- W2024552334 cites W1996044410 @default.
- W2024552334 cites W1998773767 @default.
- W2024552334 cites W1999565087 @default.
- W2024552334 cites W2000206408 @default.
- W2024552334 cites W2002772398 @default.
- W2024552334 cites W2003998589 @default.
- W2024552334 cites W2007325090 @default.
- W2024552334 cites W2007882812 @default.
- W2024552334 cites W2011484895 @default.
- W2024552334 cites W2016661249 @default.
- W2024552334 cites W2016796510 @default.
- W2024552334 cites W2021987008 @default.
- W2024552334 cites W2027668641 @default.
- W2024552334 cites W2028783031 @default.
- W2024552334 cites W2029411138 @default.
- W2024552334 cites W2031256159 @default.
- W2024552334 cites W2031406286 @default.
- W2024552334 cites W2032647092 @default.
- W2024552334 cites W2033167084 @default.
- W2024552334 cites W2033666853 @default.
- W2024552334 cites W2038460887 @default.
- W2024552334 cites W2039330026 @default.
- W2024552334 cites W2039595978 @default.
- W2024552334 cites W2040261593 @default.
- W2024552334 cites W2044122378 @default.
- W2024552334 cites W2045762186 @default.
- W2024552334 cites W2047797279 @default.
- W2024552334 cites W2050183773 @default.
- W2024552334 cites W2053844006 @default.
- W2024552334 cites W2061937072 @default.
- W2024552334 cites W2066408612 @default.
- W2024552334 cites W2069098370 @default.
- W2024552334 cites W2074131187 @default.
- W2024552334 cites W2076945188 @default.
- W2024552334 cites W2079355656 @default.
- W2024552334 cites W2080018890 @default.
- W2024552334 cites W2081379553 @default.
- W2024552334 cites W2083797876 @default.
- W2024552334 cites W2086398516 @default.
- W2024552334 cites W2086881223 @default.
- W2024552334 cites W2087001239 @default.
- W2024552334 cites W2088036824 @default.
- W2024552334 cites W2088744498 @default.
- W2024552334 cites W2091009361 @default.
- W2024552334 cites W2091055693 @default.
- W2024552334 cites W2093310335 @default.
- W2024552334 cites W2094543672 @default.
- W2024552334 cites W2095541261 @default.
- W2024552334 cites W2095617425 @default.
- W2024552334 cites W2098100524 @default.
- W2024552334 cites W2098152017 @default.
- W2024552334 cites W2102595033 @default.
- W2024552334 cites W2102960342 @default.
- W2024552334 cites W2108966286 @default.
- W2024552334 cites W2109948920 @default.
- W2024552334 cites W2111010850 @default.
- W2024552334 cites W2111211899 @default.
- W2024552334 cites W2111649276 @default.
- W2024552334 cites W2114854528 @default.
- W2024552334 cites W2114872881 @default.
- W2024552334 cites W2116541338 @default.
- W2024552334 cites W2117692326 @default.
- W2024552334 cites W2118071133 @default.
- W2024552334 cites W2120791191 @default.
- W2024552334 cites W2123697767 @default.