Dosage compensation can buffer copy-number variation in wild yeast
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+5 more
doaj +1 more source
Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory [PDF]
Objectives: To implement non-invasive prenatal testing (NIPT) for fetal aneuploidies with semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first 15-month experience on clinical samples.
De Smet, Matthias+7 more
core +2 more sources
CENH3-GFP: a visual marker for gametophytic and somatic ploidy determination in Arabidopsis thaliana [PDF]
Background: The in vivo determination of the cell-specific chromosome number provides a valuable tool in several aspects of plant research. However, current techniques to determine the endosystemic ploidy level do not allow non-destructive, cell-specific
Angenon, Geert+4 more
core +5 more sources
DNA aneuploidy relationship with patient age and tobacco smoke in OPMDs/OSCCs.
The aim of this study was to investigate the relationship between tobacco smoke habit, patient age, DNA aneuploidy and genomic DNA copy number aberrations (CNAs) in oral potentially malignant disorder (OPMD) and oral squamous cell carcinoma (OSCC ...
Patrizio Castagnola+8 more
doaj +1 more source
A linear mixed model approach to gene expression-tumor aneuploidy association studies. [PDF]
Aneuploidy, defined as abnormal chromosome number or somatic DNA copy number, is a characteristic of many aggressive tumors and is thought to drive tumorigenesis.
Balanis, Nikolas G+3 more
core
Catastrophic chromosomal restructuring during genome elimination in plants. [PDF]
Genome instability is associated with mitotic errors and cancer. This phenomenon can lead to deleterious rearrangements, but also genetic novelty, and many questions regarding its genesis, fate and evolutionary role remain unanswered.
Bradnam, Keith R+9 more
core +1 more source
Aneuploidy and Skeletal Health [PDF]
The normal human chromosome complement consists of 46 chromosomes comprising 22 morphologically different pairs of autosomes and one pair of sex chromosomes. Variations in either chromosome number and/or structure frequently result in significant mental impairment and/or a variety of other clinical problems, among them, altered bone mass and strength ...
Archana Kamalakar+3 more
openaire +3 more sources
Cell‐free DNA aneuploidy score as a dynamic early response marker in prostate cancer
mFast‐SeqS‐based genome‐wide aneuploidy scores are concordant with aneuploidy scores obtained by whole genome sequencing from tumor tissue and can predict response to ARSI treatment at baseline and, at an early time point, to ARSI and taxanes. This assay can be easily performed at low cost and requires little input of cfDNA. Cell‐free circulating tumor
Khrystany T. Isebia+17 more
wiley +1 more source
Biomarkers of leukemia risk: benzene as a model. [PDF]
Although relatively rare, leukemias place a considerable financial burden on society and cause psychologic trauma to many families. Leukemia is the most common cancer in children.
Smith, MT, Zhang, L
core +3 more sources
The consequences of tetraploidy and aneuploidy [PDF]
Polyploidy, an increased number of chromosome sets, is a surprisingly common phenomenon in nature, particularly in plants and fungi. In humans, polyploidy often occurs in specific tissues as part of terminal differentiation. Changes in ploidy can also result from pathophysiological events that are caused by viral-induced cell fusion or erroneous cell ...
Zuzana Storchova, Christian Kuffer
openaire +3 more sources