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1.

Replication stress impairs chromosome segregation and preimplantation development in human embryos.

Palmerola, Katherine L; Amrane, Selma; De Los Angeles, Alejandro; Xu, Shuangyi; Wang, Ning; de Pinho, Joao; Zuccaro, Michael V; Taglialatela, Angelo; Massey, Dashiell J; Turocy, Jenna; Robles, Alex; Subbiah, Anisa; Prosser, Bob; Lobo, Rogerio; Ciccia, Alberto; Koren, Amnon; Baslan, Timour; Egli, Dieter.

Cell; 185(16): 2988-3007.e20, 2022 08 04.

Artículo en Inglés | MEDLINE | ID: mdl-35858625

2.

Linking Micronuclei to Chromosome Fragmentation.

Hatch, Emily M; Hetzer, Martin W.

Cell; 161(7): 1502-4, 2015 Jun 18.

Artículo en Inglés | MEDLINE | ID: mdl-26091034

3.

Chromosomal fragile site breakage by EBV-encoded EBNA1 at clustered repeats.

Li, Julia Su Zhou; Abbasi, Ammal; Kim, Dong Hyun; Lippman, Scott M; Alexandrov, Ludmil B; Cleveland, Don W.

Nature; 616(7957): 504-509, 2023 04.

Artículo en Inglés | MEDLINE | ID: mdl-37046091

4.

The chromatin response to DNA breaks: leaving a mark on genome integrity.

Smeenk, Godelieve; van Attikum, Haico.

Annu Rev Biochem; 82: 55-80, 2013.

Artículo en Inglés | MEDLINE | ID: mdl-23414304

5.

The Smc5/6 Core Complex Is a Structure-Specific DNA Binding and Compacting Machine.

Serrano, Diego; Cordero, Gustavo; Kawamura, Ryo; Sverzhinsky, Aleksandr; Sarker, Muzaddid; Roy, Shamayita; Malo, Catherine; Pascal, John M; Marko, John F; D'Amours, Damien.

Mol Cell; 80(6): 1025-1038.e5, 2020 12 17.

Artículo en Inglés | MEDLINE | ID: mdl-33301731

6.

Unrepaired base excision repair intermediates in template DNA strands trigger replication fork collapse and PARP inhibitor sensitivity.

Serrano-Benitez, Almudena; Wells, Sophie E; Drummond-Clarke, Lylah; Russo, Lilian C; Thomas, John Christopher; Leal, Giovanna A; Farrow, Mark; Edgerton, James Michael; Balasubramanian, Shankar; Yang, Ming; Frezza, Christian; Gautam, Amit; Brazina, Jan; Burdova, Kamila; Hoch, Nicolas C; Jackson, Stephen P; Caldecott, Keith W.

EMBO J; 42(18): e113190, 2023 09 18.

Artículo en Inglés | MEDLINE | ID: mdl-37492888

7.

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

Talkowski, Michael E; Rosenfeld, Jill A; Blumenthal, Ian; Pillalamarri, Vamsee; Chiang, Colby; Heilbut, Adrian; Ernst, Carl; Hanscom, Carrie; Rossin, Elizabeth; Lindgren, Amelia M; Pereira, Shahrin; Ruderfer, Douglas; Kirby, Andrew; Ripke, Stephan; Harris, David J; Lee, Ji-Hyun; Ha, Kyungsoo; Kim, Hyung-Goo; Solomon, Benjamin D; Gropman, Andrea L; Lucente, Diane; Sims, Katherine; Ohsumi, Toshiro K; Borowsky, Mark L; Loranger, Stephanie; Quade, Bradley; Lage, Kasper; Miles, Judith; Wu, Bai-Lin; Shen, Yiping; Neale, Benjamin; Shaffer, Lisa G; Daly, Mark J; Morton, Cynthia C; Gusella, James F.

Cell; 149(3): 525-37, 2012 Apr 27.

Artículo en Inglés | MEDLINE | ID: mdl-22521361

8.

Topoisomerase II-Induced Chromosome Breakage and Translocation Is Determined by Chromosome Architecture and Transcriptional Activity.

Canela, Andres; Maman, Yaakov; Huang, Shar-Yin N; Wutz, Gordana; Tang, Wen; Zagnoli-Vieira, Guido; Callen, Elsa; Wong, Nancy; Day, Amanda; Peters, Jan-Michael; Caldecott, Keith W; Pommier, Yves; Nussenzweig, André.

Mol Cell; 75(2): 252-266.e8, 2019 07 25.

Artículo en Inglés | MEDLINE | ID: mdl-31202577

9.

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.

Liu, Pengfei; Erez, Ayelet; Nagamani, Sandesh C Sreenath; Dhar, Shweta U; Kolodziejska, Katarzyna E; Dharmadhikari, Avinash V; Cooper, M Lance; Wiszniewska, Joanna; Zhang, Feng; Withers, Marjorie A; Bacino, Carlos A; Campos-Acevedo, Luis Daniel; Delgado, Mauricio R; Freedenberg, Debra; Garnica, Adolfo; Grebe, Theresa A; Hernández-Almaguer, Dolores; Immken, LaDonna; Lalani, Seema R; McLean, Scott D; Northrup, Hope; Scaglia, Fernando; Strathearn, Lane; Trapane, Pamela; Kang, Sung-Hae L; Patel, Ankita; Cheung, Sau Wai; Hastings, P J; Stankiewicz, Pawel; Lupski, James R; Bi, Weimin.

Cell; 146(6): 889-903, 2011 Sep 16.

Artículo en Inglés | MEDLINE | ID: mdl-21925314

10.

Genome-wide translocation sequencing reveals mechanisms of chromosome breaks and rearrangements in B cells.

Chiarle, Roberto; Zhang, Yu; Frock, Richard L; Lewis, Susanna M; Molinie, Benoit; Ho, Yu-Jui; Myers, Darienne R; Choi, Vivian W; Compagno, Mara; Malkin, Daniel J; Neuberg, Donna; Monti, Stefano; Giallourakis, Cosmas C; Gostissa, Monica; Alt, Frederick W.

Cell; 147(1): 107-19, 2011 Sep 30.

Artículo en Inglés | MEDLINE | ID: mdl-21962511

11.

Repeat-mediated deletions can be induced by a chromosomal break far from a repeat, but multiple pathways suppress such rearrangements.

Mendez-Dorantes, Carlos; Bhargava, Ragini; Stark, Jeremy M.

Genes Dev; 32(7-8): 524-536, 2018 04 01.

Artículo en Inglés | MEDLINE | ID: mdl-29636371

12.

Dicentric chromosomes are resolved through breakage and repair at their centromeres.

Cook, Diana; Kozmin, Stanislav G; Yeh, Elaine; Petes, Thomas D; Bloom, Kerry.

Chromosoma; 133(2): 117-134, 2024 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-38165460

13.

Accurate long-read sequencing allows assembly of the duplicated RHD and RHCE genes harboring variants relevant to blood transfusion.

Zhang, Zhe; An, Hyun Hyung; Vege, Sunitha; Hu, Taishan; Zhang, Shiping; Mosbruger, Timothy; Jayaraman, Pushkala; Monos, Dimitri; Westhoff, Connie M; Chou, Stella T.

Am J Hum Genet; 109(1): 180-191, 2022 01 06.

Artículo en Inglés | MEDLINE | ID: mdl-34968422

14.

Chromosomal breaks at the origin of small tandem DNA duplications.

Schimmel, Joost; van Wezel, Marloes D; van Schendel, Robin; Tijsterman, Marcel.

Bioessays; 45(1): e2200168, 2023 01.

Artículo en Inglés | MEDLINE | ID: mdl-36385254

15.

Resolution of sequence divergence for repeat-mediated deletions shows a polarity that is mediated by MLH1.

Trost, Hannah; Merkell, Arianna; Lopezcolorado, Felicia Wednesday; Stark, Jeremy M.

Nucleic Acids Res; 51(2): 650-667, 2023 01 25.

Artículo en Inglés | MEDLINE | ID: mdl-36620890

16.

A familial deletion of 10p12.1 associated with thrombocytopenia.

Manohar, Sujal; Gofin, Yoel; Streff, Haley; Vossaert, Liesbeth; Camacho, Pamela; Murali, Chaya N.

Am J Med Genet A; 194(1): 77-81, 2024 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-37746810

17.

Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations.

Loh, Po-Ru; Genovese, Giulio; Handsaker, Robert E; Finucane, Hilary K; Reshef, Yakir A; Palamara, Pier Francesco; Birmann, Brenda M; Talkowski, Michael E; Bakhoum, Samuel F; McCarroll, Steven A; Price, Alkes L.

Nature; 559(7714): 350-355, 2018 07.

Artículo en Inglés | MEDLINE | ID: mdl-29995854

18.

Dna2 nuclease deficiency results in large and complex DNA insertions at chromosomal breaks.

Yu, Yang; Pham, Nhung; Xia, Bo; Papusha, Alma; Wang, Guangyu; Yan, Zhenxin; Peng, Guang; Chen, Kaifu; Ira, Grzegorz.

Nature; 564(7735): 287-290, 2018 12.

Artículo en Inglés | MEDLINE | ID: mdl-30518856

19.

Essential Roles for Polymerase Î¸-Mediated End Joining in the Repair of Chromosome Breaks.

Wyatt, David W; Feng, Wanjuan; Conlin, Michael P; Yousefzadeh, Matthew J; Roberts, Steven A; Mieczkowski, Piotr; Wood, Richard D; Gupta, Gaorav P; Ramsden, Dale A.

Mol Cell; 63(4): 662-673, 2016 08 18.

Artículo en Inglés | MEDLINE | ID: mdl-27453047

20.

Genome characterization and CRISPR-Cas9 editing of a human neocentromere.

Palazzo, Antonio; Piccolo, Ilaria; Minervini, Crescenzio Francesco; Purgato, Stefania; Capozzi, Oronzo; D'Addabbo, Pietro; Cumbo, Cosimo; Albano, Francesco; Rocchi, Mariano; Catacchio, Claudia Rita.

Chromosoma; 131(4): 239-251, 2022 12.

Artículo en Inglés | MEDLINE | ID: mdl-35978051

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