Results 41 to 50 of about 95,739 (341)

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

open access: yes, 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   +5 more
core   +2 more sources

Quantitative proteomic analysis reveals posttranslational responses to aneuploidy in yeast

open access: yeseLife, 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   +6 more
doaj   +1 more source

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

open access: yesCells, 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   +2 more
doaj   +1 more source

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

open access: yes, 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

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

open access: yesBMC 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   +9 more
doaj   +1 more source

Gene expression in Leishmania is regulated predominantly by gene dosage [PDF]

open access: yes, 2017
Leishmania tropica, a unicellular eukaryotic parasite present in North and East Africa, the Middle East, and the Indian subcontinent, has been linked to large outbreaks of cutaneous leishmaniasis in displaced populations in Iraq, Jordan, and Syria. Here,
Berriman, Matthew   +12 more
core   +3 more sources

From tumorigenesis to cell death: the aneuploidy paradox

open access: yesMolecular & 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

#291 : Association of Maternal Age with Embryonic Aneuploidy and Morphological Score Among Good-Prognosis Infertile Women: A Secondary Analysis of Multicenter, Randomized Controlled Trial

open access: yesFertility & Reproduction, 2023
Background and Aims: Maternal age has been reported to impact on embryo genetic status. However, current data on the association between maternal age and early embryo development are limited and inconclusive, especially among good-prognosis women.
Yumei Huang   +4 more
doaj   +1 more source

Chromosomal instability in untreated primary prostate cancer as an indicator of metastatic potential. [PDF]

open access: yes, 2020
BackgroundMetastatic prostate cancer (PC) is highly lethal. The ability to identify primary tumors capable of dissemination is an unmet need in the quest to understand lethal biology and improve patient outcomes.
Cadaneanu, Radu M   +14 more
core  

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

open access: yes, 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   +61 more
core   +1 more source

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