Results 1 to 10 of about 9,449,306 (346)

Recombination between heterologous human acrocentric chromosomes

bioRxiv, 2023
Comparisons within the human pangenome establish that homologous regions on short arms of heterologous human acrocentric chromosomes actively recombine, leading to the high rate of Robertsonian translocation breakpoints in these regions.
A. Guarracino, S. Buonaiuto, L. G. de Lima, T. Potapova, A. Rhie, S. Koren, B. Rubinstein, Christian Fischer, J. Gerton, A. Phillippy, V. Colonna, Erik K. Garrison   +11 more
semanticscholar   +1 more source

Сytogenetic techniques in current biomedical research. part i: history and theoretical basis of human cytogenetics

Фундаментальная и клиническая медицина, 2021
Cytogenetics is an essential part of human genetics which studies the structure of chromosomes and their collection which is called karyotype. Cytogenetic techniques are employed while interrogating DNA organisation and compaction.
A. N. Volkov, L. V. Nacheva
doaj   +1 more source

The complete sequence of a human genome

bioRxiv, 2021
In 2001, Celera Genomics and the International Human Genome Sequencing Consortium published their initial drafts of the human genome, which revolutionized the field of genomics.
S. Nurk, S. Koren, A. Rhie, M. Rautiainen, Andrey V. Bzikadze, Alla Mikheenko, Mitchell R. Vollger, Nicolas Altemose, L. Uralsky, Ariel Gershman, S. Aganezov, Savannah J. Hoyt, M. Diekhans, Glennis A. Logsdon, Michael Alonge, S. Antonarakis, M. Borchers, G. Bouffard, Shelise Y. Brooks, G. V. Caldas, Haoyu Cheng, Chen-Shan Chin, W. Chow, L. G. de Lima, Philip C. Dishuck, R. Durbin, T. Dvorkina, Ian T. Fiddes, G. Formenti, R. Fulton, Arkarachai Fungtammasan, Erik K. Garrison, Patrick G. S. Grady, Tina A. Graves-Lindsay, Ira M. Hall, Nancy F. Hansen, Gabrielle Hartley, Marina Haukness, K. Howe, M. Hunkapiller, Chirag Jain, Miten Jain, E. Jarvis, Peter Kerpedjiev, Melanie Kirsche, M. Kolmogorov, J. Korlach, Milinn Kremitzki, Heng Li, Valerie V B Maduro, T. Marschall, Ann M. McCartney, Jennifer McDaniel, Danny E. Miller, Jim Mullikin, E. Myers, Nathan D. Olson, B. Paten, P. Peluso, P. Pevzner, David Porubsky, T. Potapova, E. Rogaev, J. Rosenfeld, S. Salzberg, Valerie A. Schneider, F. Sedlazeck, Kishwar Shafin, Colin J. Shew, Alaina Shumate, Y. Sims, A. Smit, Daniela C. Soto, Ivan Sovic, Jessica M. Storer, Aaron M. Streets, B. Sullivan, F. Thibaud-Nissen, J. Torrance, Justin Wagner, B. Walenz, A. Wenger, J. Wood, Chunlin Xiao, Stephanie M. Yan, Alice C. Young, Samantha Zarate, U. Surti, R. McCoy, M. Dennis, I. Alexandrov, J. Gerton, R. O’Neill, W. Timp, J. Zook, M. Schatz, E. Eichler, K. Miga, A. Phillippy   +98 more
semanticscholar   +1 more source

Human Chromosome Telomeres

, 2021
Telomeres are specialized sequences at the end of linear chromosomes. Its conserved structure and function among eukaryotic cells suggest important evolutionary functions. Telomere dynamics play major roles in chromosomal integrity, stability, cellular replication and aging, performing crucial genome protective functions.
Barbé-Tuana, Florencia, Grun, Lucas Kich, Pierdoná, Vinícius, de Oliveira, Beatriz Cristina Dias, Paiva, Stephany Cacete, Shiburah, Mark Ewusi, da Silva, Vítor Luiz, Morea, Edna Gicela Ortiz, Fontes, Verônica Silva, Cano, Maria Isabel Nogueira   +9 more
openaire   +1 more source

Modeling protein target search in human chromosomes

Physical Review Research, 2021
Several processes in the cell, such as gene regulation, start when key proteins recognize and bind to short DNA sequences. However, as these sequences can be hundreds of million times shorter than the genome, they are hard to find by simple diffusion ...
Markus Nyberg, Tobias Ambjörnsson, Per Stenberg, Ludvig Lizana   +3 more
doaj   +1 more source

Developmental Delay and Rehabilitation in an Infant with Partial Trisomy 1q32.1 to 1q44: A Case Report [PDF]

Neonatal Medicine, 2022
Partial trisomy 1q is a rare chromosomal disorder characterized by ventriculomegaly with craniofacial, renal, cardiac, and finger and toe anomalies. Most reported cases of partial trisomy1q have involved stillborn or premature deaths due to cardiac or ...
Woo Kyung Kim, Na Mi Lee, In Seok Lim, Soo Ahn Chae, Sin Weon Yun, Dae Yong Yi, Su Yeong Kim   +6 more
doaj   +1 more source

Panel of human cell lines with human/mouse artificial chromosomes

Scientific Reports, 2022
Human artificial chromosomes (HACs) and mouse artificial chromosomes (MACs) are non-integrating chromosomal gene delivery vectors for molecular biology research.
Narumi Uno, Shuta Takata, Shinya Komoto, Hitomaru Miyamoto, Yuji Nakayama, Mitsuhiko Osaki, Ryota Mayuzumi, Natsumi Miyazaki, Chiaki Hando, Satoshi Abe, Tetsushi Sakuma, Takashi Yamamoto, Teruhiko Suzuki, Yoshihiro Nakajima, Mitsuo Oshimura, Kazuma Tomizuka, Yasuhiro Kazuki   +16 more
doaj   +1 more source

Down syndrome associated childhood myeloid leukemia with yet unreported acquired chromosomal abnormalities and a new potential adverse marker: dup(1)(q25q44)

Molecular Cytogenetics, 2018
Background Children with constitutional trisomy 21, i.e. Down syndrome (DS, OMIM #190685) have a 10 to 20-fold increased risk for a hematopoietic malignancy. They may suffer from acute lymphoblastic leukemia or acute myeloid leukemia (AML).
Faten Moassass, Abdulsamad Wafa, Thomas Liehr, Ayman Al-Ablog, Walid AL Achkar   +4 more
doaj   +1 more source

Telomere disruption results in non-random formation of de novo dicentric chromosomes involving acrocentric human chromosomes. [PDF]

PLoS Genetics, 2010
Genome rearrangement often produces chromosomes with two centromeres (dicentrics) that are inherently unstable because of bridge formation and breakage during cell division.
Kaitlin M Stimpson, Ihn Young Song, Anna Jauch, Heidi Holtgreve-Grez, Karen E Hayden, Joanna M Bridger, Beth A Sullivan   +6 more
doaj   +1 more source

Non-random Mis-segregation of Human Chromosomes

Cell Reports, 2018
Summary: A common assumption is that human chromosomes carry equal chances of mis-segregation during compromised cell division. Human chromosomes vary in multiple parameters that might generate bias, but technological limitations have precluded a ...
Joseph Thomas Worrall, Naoka Tamura, Alice Mazzagatti, Nadeem Shaikh, Tineke van Lingen, Bjorn Bakker, Diana Carolina Johanna Spierings, Elina Vladimirou, Floris Foijer, Sarah Elizabeth McClelland   +9 more
doaj   +1 more source