Results 61 to 70 of about 452,570 (334)

Large duplications at reciprocal translocation breakpoints that might be the counterpart of large deletions and could arise from stalled replication bubbles.

Genome Research, 2011
Reciprocal chromosome translocations are often not exactly reciprocal. Most familiar are deletions at the breakpoints, up to megabases in extent. We describe here the opposite phenomenon-duplication of tens or hundreds of kilobases at the breakpoint ...
K. Howarth, J. Pole, J. C. Beavis, E. Batty, S. Newman, G. Bignell, P. Edwards   +6 more
semanticscholar   +1 more source

Influence of the Sex of Translocation Carrier on Clinical Outcomes of Couples Undergoing Preimplantation Genetic Testing

Molecular Genetics & Genomic Medicine
Introduction This study investigated the impact of the carrier on transferable blastocyst rate and live birth outcomes in couples with structural chromosomal abnormalities.
Zhiping Zhang, Jiayao Chen, Lei Zhang, Ruiyang Wei, Zhen Liu, Dunmei Zhao, Xingyu Bi, Lixia Liang, Xueluo Zhang, Dan Su, Xueqing Wu   +10 more
doaj   +1 more source

Using short read sequencing to characterise balanced reciprocal translocations in pigs

BMC Genomics, 2020
Background A balanced constitutional reciprocal translocation (RT) is a mutual exchange of terminal segments of two non-homologous chromosomes without any loss or gain of DNA in germline cells.
Aniek C. Bouwman, Martijn F. L. Derks, Marleen L. W. J. Broekhuijse, Barbara Harlizius, Roel F. Veerkamp   +4 more
doaj   +1 more source

Circular RNA PTPN4 Contributes to Blood‐Brain Barrier Disruption during Early Epileptogenesis

Advanced Science, EarlyView.
Epileptic condition induces CircPTPN4 upregulation, which promotes ECE‐1 expression through competitive sequestration of miR‐145a‐5p. The elevated ECE‐1 catalyzes the ET‐1 production, leading to p38/MAPK pathway activation and subsequent downregulation of tight junction protein expression. This cascade results in increased BBB permeability and enhanced
Jiurong Yang, Yang Hu, Feiyu Wang, Xintao Peng, Honggang Qi, Yuanyuan Yao, Canyu Zhang, Lijie Zhou, Xuemei Liang, Kang Xu, Cong Zhang, Aifeng Zhang, Chen Chen, Yu Zeng, Chenchen Zhang, Guangming Gan, Xinjian Zhu   +16 more
wiley   +1 more source

Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family

Molecular Cytogenetics, 2018
Background Balanced reciprocal translocation is usually an exchange of two terminal segments from different chromosomes without phenotypic effect on the carrier while leading to increased risk of generating unbalanced gametes.
Kaihui Zhang, Yan Huang, Rui Dong, Yali Yang, Ying Wang, Haiyan Zhang, Yufeng Zhang, Zhongtao Gai, Yi Liu   +8 more
doaj   +1 more source

Chromosome segregation analysis in human embryos obtained from couples involving male carriers of reciprocal or Robertsonian translocation. [PDF]

PLoS ONE, 2012
The objective of this study was to investigate the frequency and type of chromosome segregation patterns in cleavage stage embryos obtained from male carriers of Robertsonian (ROB) and reciprocal (REC) translocations undergoing preimplantation genetic ...
Ahmet Yilmaz, Xiao Yun Zhang, Jin-Tae Chung, Seang Lin Tan, Hananel Holzer, Asangla Ao   +5 more
doaj   +1 more source

Integrated Transcriptomics Reveals Evolutionary Trajectories and Cell Density‐Dependent Mechanisms in Aldosterone‐Producing Adenomas

Advanced Science, EarlyView.
Aldosterone‐producing adenomas (APAs) develop via two distinct paths: directly from adrenal zona glomerulosa (zG) cells, or stepwise from zG cells through aldosterone‐producing micronodules (APMs) before progressing to APAs. Advanced single‐cell and spatial analyses identified distinct cell states linked to oxidative stress and cell–cell interactions ...
Zhuolun Sun, Changying Jing, Martina Tetti, Siyuan Gong, Jia Wei, Yingxian Pang, Martin Reincke, Tracy Ann Williams   +7 more
wiley   +1 more source

Linkage map construction involving a reciprocal translocation

Theoretical and Applied Genetics, 2010
This paper is concerned with a novel statistical–genetic approach for the construction of linkage maps in populations obtained from reciprocal translocation heterozygotes of barley (Hordeum vulgare L.).
A. Farré, bullet I Lacasa, Benito bullet, L. Cistué, J. H. De, Jong bullet, I. Romagosa, bullet J Jansen   +7 more
semanticscholar   +1 more source

A New Approach for Accurate Detection of Chromosome Rearrangements That Affect Fertility in Cattle

Animals, 2020
Globally, cattle production has more than doubled since the 1960s, with widespread use of artificial insemination (AI) and an emphasis on a small pool of high genetic merit animals.
Rebecca L. Jennings, Darren K. Griffin, Rebecca E. O’Connor   +2 more
doaj   +1 more source

FAPα+ Macrophages Orchestrate Immune Evasion in Multiple Myeloma by Dual Regulation of PD‐L1 and T Cell Senescence

Advanced Science, EarlyView.
ABSTRACT Multiple myeloma (MM) is a hematologic malignancy driven by clonal expansion of malignant plasma cells. Despite the long‐term disease control achieved with immunotherapies in some patients, treatment resistance remains a major cause of disease relapse.
Huiyao Gu, Zhenfeng Dai, Xi Huang, Enfan Zhang, Xinyuan Dai, Haoguang Chen, Wen Cao, Jinna Zhang, Yifan Hou, Haimeng Yan, Yang Yang, Li Yang, Yi Li, Wenlong Lin, Zhen Cai, Jingsong He   +15 more
wiley   +1 more source