Results 41 to 50 of about 50,865 (308)
Fertility & 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
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Prenatal Diagnosis, Volume 42, Issue 13, Page 1587-1593, December 2022., 2022 Abstract Objective Twins account for approximately 1 in 30 live births in the United States. However, there are limited clinical experience studies published in noninvasive prenatal testing (NIPT) for detecting aneuploidies in twins. This study reports the performance of an SNP‐based NIPT in the largest cohort with known outcomes for high‐risk ...
Valerie Kantor +9 more
wiley +1 more source
MIXALIME: MIXture models for ALlelic IMbalance Estimation in high-throughput sequencing data [PDF]
arXiv, 2023 Modern high-throughput sequencing assays efficiently capture not only gene expression and different levels of gene regulation but also a multitude of genome variants. Focused analysis of alternative alleles of variable sites at homologous chromosomes of the human genome reveals allele-specific gene expression and allele-specific gene regulation by ...
arxiv
Fetal cerebral ventriculomegaly: What do we tell the prospective parents?
Prenatal Diagnosis, Volume 42, Issue 13, Page 1674-1681, December 2022., 2022 Abstract Fetal cerebral ventriculomegaly is a relatively common finding, observed during approximately 1% of obstetric ultrasounds. In the second and third trimester, mild (≥10 mm) and severe ventriculomegaly (≥15 mm) are defined according to the measurement of distal lateral ventricles that is included in the routine sonographic examination of central
Veronica Giorgione +4 more
wiley +1 more source
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 +5 more
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Prenatal Diagnosis, Volume 42, Issue 13, Page 1627-1635, December 2022., 2022 Abstract Objectives The congenital diaphragmatic hernia (CDH), characterized by malformation of the diaphragm and lung hypoplasia, is a common and severe birth defect that affects around 1 in 4000 live births. However, the etiology of most cases of CDH remains unclear.
Marie Boisson +11 more
wiley +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 +6 more
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DNA aneuploidy relationship with patient age and tobacco smoke in OPMDs/OSCCs.
PLoS ONE, 2017 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
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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
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Aneuploidy: implications for protein homeostasis and disease
Disease Models & Mechanisms, 2014 It has long been appreciated that aneuploidy – in which cells possess a karyotype that is not a multiple of the haploid complement – has a substantial impact on human health, but its effects at the subcellular level have only recently become a focus of ...
Ana B. Oromendia, Angelika Amon
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