Results 31 to 40 of about 97,243 (292)

Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up. [PDF]

, 2015
BackgroundNoninvasive prenatal screening (NIPS) by next-generation sequencing of cell-free DNA (cfDNA) in maternal plasma is used to screen for common aneuploidies such as trisomy 21 in high risk pregnancies.
Chu, Tianjiao, Clemens, Michelle, Peters, David G, Rajkovic, Aleksandar, Saller, Devereux N, Yatsenko, Svetlana A   +5 more
core   +2 more sources

Comparison of aneuploidy rate in spontaneous abortion chorionic villus between D6 and D5 thawed-frozen blastocyst transfer

BMC Pregnancy and Childbirth, 2023
Background To compare the aneuploidy rate in spontaneous abortion chorionic villus (SA-CV) after D5 and D6 thawed-frozen blastocyst transfer(TBT). Methods This retrospective cohort study recruited 522 patients with early spontaneous abortion from March ...
Weie Zhao, Panyu Chen, Xiaoping Liu, Yujie Li, Xiaoyan Liang, Jingjie Li   +5 more
doaj   +1 more source

Quantitative proteomic analysis reveals posttranslational responses to aneuploidy in yeast

eLife, 2014
Aneuploidy causes severe developmental defects and is a near universal feature of tumor cells. Despite its profound effects, the cellular processes affected by aneuploidy are not well characterized. Here, we examined the consequences of aneuploidy on the
Noah Dephoure, Sunyoung Hwang, Ciara O'Sullivan, Stacie E Dodgson, Steven P Gygi, Angelika Amon, Eduardo M Torres   +6 more
doaj   +1 more source

Consequences of Chromosome Loss: Why Do Cells Need Each Chromosome Twice?

Cells, 2022
Aneuploidy is a cellular state with an unbalanced chromosome number that deviates from the usual euploid status. During evolution, elaborate cellular mechanisms have evolved to maintain the correct chromosome content over generations.
Narendra Kumar Chunduri, Karen Barthel, Zuzana Storchova   +2 more
doaj   +1 more source

Multicolour interphase cytogenetics: 24 chromosome probes, 6 colours, 4 layers [PDF]

, 2011
From the late 1980s onwards, the use of DNA probes to visualise sequences on individual chromosomes (fluorescent in-situ hybridisation - FISH) revolutionised the study of cytogenetics.
A.R. Thornhill, Abruzzo, Arnold, Camps, Celeda, Cremer, D. Ioannou, D.K. Griffin, Dauwerse, DeSilva, E.J. Meershoek, Egozcue, Emmerich, Ersfeld, Fiegler, Finch, Finch, Foster, Gabriel, Griffin, Griffin, Griffin, Griffin, Griffin, Handyside, Harper, Harper, Harton, Jauch, Julien, Kallioniemi, Kearns, Kolluri, Langer, Lichter, M. Ellis, Mann, Matsuzaki, Muller, Munne, Munne, Munne, Munne, Nederlof, Nordgren, Olszewska, O’Keefe, Pinkel, Quilter, Rennstam, Roberts, Rodriguez, Rottger, Sbracia, Schardin, Schrock, Speicher, Syvanen, Tempest, Tsuchiya, Walling, Wienberg   +61 more
core   +1 more source

Association of TP53 rs1042522 G > C, MDM2 rs2279744 T > G, and miR-34b/c rs4938723 T > C polymorphisms with aneuploidy pregnancy susceptibility

BMC Pregnancy and Childbirth, 2023
Background Aneuploidy pregnancy is a severe major birth defect and causes about 50% spontaneous miscarriages with unknown etiology. To date, only a few epidemiological studies with small sample sizes have investigated the risk factors for aneuploidy ...
Ying Chan, Weiming Xu, Yan Feng, Yan Zhang, Suyun Li, Zibiao Geng, Zhijiao Liu, Qingfen Zhao, Jinman Zhang, Baosheng Zhu   +9 more
doaj   +1 more source

Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis. [PDF]

, 2015
Methylation of the fragile X mental retardation 1 (FMR1) exon 1/intron 1 boundary positioned fragile X related epigenetic element 2 (FREE2), reveals skewed X-chromosome inactivation (XCI) in fragile X syndrome full mutation (FM: CGG > 200) females ...
Amor, David J, Bui, Quang M, Francis, David, Godler, David E, Hagerman, Randi J, Herlihy, Amy S, Hopper, John L, Inaba, Yoshimi, Li, Xin, Metcalfe, Sylvia A, Schwartz, Charles E, Shi, Elva Z, Skinner, Cindy, Slater, Howard R   +13 more
core   +2 more sources

From tumorigenesis to cell death: the aneuploidy paradox

Molecular & Cellular Oncology, 2020
Aneuploidy, an abnormal chromosome number, is a hallmark of cancer. We recently showed that depletion of microtubule-associated protein ATIP3 (AT2 receptor-interacting protein 3) induces aneuploidy and sensitizes breast cancer cells to taxanes. Combining
Sylvie Rodrigues-Ferreira, Clara Nahmias
doaj   +1 more source

A Computational Approach to Estimating Nondisjunction Frequency in Saccharomyces cerevisiae. [PDF]

, 2016
Errors segregating homologous chromosomes during meiosis result in aneuploid gametes and are the largest contributing factor to birth defects and spontaneous abortions in humans.
Burgess, Sean M, Chu, Daniel B
core   +3 more sources

Dosage compensation can buffer copy-number variation in wild yeast

eLife, 2015
Aneuploidy is linked to myriad diseases but also facilitates organismal evolution. It remains unclear how cells overcome the deleterious effects of aneuploidy until new phenotypes evolve. Although laboratory strains are extremely sensitive to aneuploidy,
James Hose, Chris Mun Yong, Maria Sardi, Zhishi Wang, Michael A Newton, Audrey P Gasch   +5 more
doaj   +1 more source