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Depletion of TP53 in Human Pluripotent Stem Cells Triggers Malignant-Like Behavior.
Adv Biol (Weinh)
January 2025
Anatomy and Physiology, Department Clinical Sciences, Faculty of Veterinary Medicine, Utrecht University, Utrecht, 3584 CL, The Netherlands.
Human pluripotent stem cells (hPSCs) tend to acquire genetic aberrations upon culture in vitro. Common aberrations are mutations in the tumor suppressor TP53, suspected to confer a growth-advantage to the mutant cells. However, their full impact in the development of malignant features and safety of hPSCs for downstream applications is yet to be elucidated.
View Article and Find Full Text PDFEffects of maternal liver abnormality on maturation of bovine oocytes.
Zygote
January 2025
University Farm, Faculty of Agriculture, Utsunomiya University, Utsunomiya, Tochigi 321-4415, Japan.
In cattle, maternal metabolic health has been suggested to influence oocyte and embryo quality. Here, we examined whether maternal liver abnormalities affected oocyte maturation by screening meiotic maturation, spindle morphology, actin filaments, and lysosomes. In oocytes from the abnormal liver group, the maturation rate (80.
View Article and Find Full Text PDFMyotilin gene duplication causing late-onset myotilinopathy.
Eur J Neurol
January 2025
Folkhalsan Research Center, Helsinki, Finland.
Background: myotilinopathy is a very rare inherited muscle disease that belongs to the group of myofibrillar myopathies. These diseases share a common alteration of the sarcomere organization at the level of the Z disk resulting in pathological protein aggregation, autophagic abnormalities, and ultimately muscle degeneration. Most reported cases are due to dominant missense mutations in the MYOT gene, two of which are largely recurrent.
View Article and Find Full Text PDFAstral Microtubules Are Dispensable for Pavarotti Localization During Drosophila Spermatogonial Mitoses.
Cytoskeleton (Hoboken)
January 2025
Department of Life Sciences, University of Siena, Siena, Italy.
We analysed here the dynamic of the kinesin-like Pavarotti (Pav) during male gametogenesis of wild-type and Sas4 mutant flies. Pav localizes to the equatorial region and the inner central spindle of late anaphase wild-type spermatogonia and displays a strong concentration at the midbody during late telophase. At metaphase of the first meiotic division, Pav shows widespread localization on the equatorial region of the spermatocytes.
View Article and Find Full Text PDFHow Useful is Nuchal Translucency in Detecting Chromosomal Abnormalities Missed by Genome-Wide NIPT and What Measurement Threshold Should Be Used?
Prenat Diagn
January 2025
Discipline of Women's Health, University of New South Wales, Randwick, Australia.
Introduction: Genome-wide non-invasive prenatal testing (gwNIPT) has screening limitations for detectable genetic conditions and cannot detect microdeletions/microduplications (MD) or triploidy. Nuchal translucency (NT) increases with gestation and with genetic or structural abnormalities. This study aims to determine the utility of NT measurement in detecting genetic abnormalities not identified by gwNIPT and the optimal NT threshold value.
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