Results 51 to 60 of about 93,321 (331)
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
The authors applied joint/mixed models that predict mortality of trifluridine/tipiracil‐treated metastatic colorectal cancer patients based on circulating tumor DNA (ctDNA) trajectories. Patients at high risk of death could be spared aggressive therapy with the prospect of a higher quality of life in their remaining lifetime, whereas patients with a ...
Matthias Unseld+7 more
wiley +1 more source
Gene expression in Leishmania is regulated predominantly by gene dosage [PDF]
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
Aneuploidy in the Human Blastocyst
Studies of human cleavage stage embryos, 3 days after fertilization of the oocyte, have revealed remarkably high levels of chromosome abnormality. In addition to meiotic errors derived from the gametes, principally the oocyte, mitotic errors occurring after fertilization are also common, leading to widespread chromosomal mosaicism.
Fragouli, E, Wells, D
openaire +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
From tumorigenesis to cell death: the aneuploidy paradox
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
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
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
Abstract Aneuploidy is a state of abnormal and highly variable DNA and chromosome content found in both hereditary disorders and human malignancy. For two decades flow cytometry has allowed a wide-ranging survey of aneuploidy in clinicopathological series.
openaire +3 more sources
In patients treated with atezolizumab as a part of the MyPathway (NCT02091141) trial, pre‐treatment ctDNA tumor fraction at high levels was associated with poor outcomes (radiographic response, progression‐free survival, and overall survival) but better sensitivity for blood tumor mutational burden (bTMB).
Charles Swanton+17 more
wiley +1 more source