Results 111 to 120 of about 923,115 (353)

UBASH3B-mediated silencing of the mitotic checkpoint: Therapeutic perspectives in cancer

Molecular & Cellular Oncology, 2018
Defects in mitosis can lead to aneuploidy, which is a common feature of human cancers. Spindle Assembly Checkpoint (SAC) controls fidelity of chromosome segregation in mitosis to prevent aneuploidy. The ubiquitin receptor protein Ubiquitin Associated and
Ksenia Krupina, Charlotte Kleiss, Sushil Awal, Irene Rodriguez-Hernandez, Victoria Sanz-Moreno, Izabela Sumara   +5 more
doaj   +1 more source

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell, Ebuka Onyenobi, Joshua P. Lewis, Brady Gaynor, James A. Perry, Kristin Maloney, Jeffrey R. O'Connell, Jessica Tiner, Amber L. Beitelshees, Cristopher V. Van Hout, Patrick F. McArdle, Huichun Xu, Erik G. Puffenberger, Karlla W. Brigatti, Melanie Daue, Hilary B. Whitlatch, Anna Alkelai, Alejandro A. Schäffer, John Overton, Elizabeth A. Streeten, Toni I. Pollin, Alan R. Shuldiner   +21 more
wiley   +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  

Kinetochore-independent chromosome segregation driven by lateral microtubule bundles

eLife, 2015
During cell division, chromosomes attach to spindle microtubules at sites called kinetochores, and force generated at the kinetochore-microtubule interface is the main driver of chromosome movement.
C. Muscat, Keila M Torre-Santiago, Michael V. Tran, J. Powers, Sarah M. Wignall   +4 more
semanticscholar   +1 more source

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin, Maria T. Acosta, Deena Zeltser, Nadjalisse Reynolds‐Lallement, Latha Soorya, Mustafa Sahin, Tess Levy, Alexander Kolevzon, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Craig M. Powell, Jonathan A. Bernstein, Mari Tokita, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Audrey Thurm   +21 more
wiley   +1 more source

Mouse oocytes depend on BubR1 for proper chromosome segregation but not for prophase I arrest

Nature Communications, 2015
Mammalian female meiosis is error prone, with rates of meiotic chromosome missegregations strongly increasing towards the end of the reproductive lifespan.
Sandra A. Touati, Eulalie Buffin, Damien Cladière, Khaled Hached, C. Rachez, J. V. van Deursen, Katja Wassmann   +6 more
semanticscholar   +1 more source

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo, Simona Petrucci, Giuliana Lentini, Marco Fabiani, Maria Piane, Francesco Pisani   +5 more
wiley   +1 more source

Protocol for studying topological DNA interactions by purified fission yeast condensin

STAR Protocols
Summary: To understand the transition from interphase chromatin into well-shaped chromosomes during cell divisions, we need to understand the biochemical activities of the contributing proteins.
Minzhe Tang, Frank Uhlmann
doaj  

Spatiotemporal dynamics of Aurora B-PLK1-MCAK signaling axis orchestrates kinetochore bi-orientation and faithful chromosome segregation

Scientific Reports, 2015
Chromosome segregation in mitosis is orchestrated by the dynamic interactions between the kinetochore and spindle microtubules. The microtubule depolymerase mitotic centromere-associated kinesin (MCAK) is a key regulator for an accurate kinetochore ...
Hengyi Shao, Yuejia Huang, Liangyu Zhang, Kai Yuan, Youjun Chu, Zhen Dou, Changjiang Jin, Minerva T. Garcia-Barrio, Xing Liu, X. Yao   +9 more
semanticscholar   +1 more source

Evidence of substrate control of Cdk phosphorylation during the budding yeast cell cycle

Cell Reports
Summary: A series of sequential events orchestrates cell growth and division, set in motion by cyclin-dependent kinases (Cdks). In the “qualitative model” for Cdk control, order is achieved by cell cycle stage-specific cyclins.
Luca Takacs, Lina Gerontogianni, Kimberly Quililan, Helen Flynn, Frank Uhlmann   +4 more
doaj