Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain. [PDF]
Aging is a complex process strongly determined by genetics. Previous reports have shown that the genome of neuronal cells displays somatic genomic mosaicism including DNA copy number variations (CNVs).
Grinberg, Lea T+7 more
core +1 more source
Clinician views and experiences of non‐invasive prenatal genetic screening tests in Australia
Background Non‐invasive prenatal screening (NIPS) is being increasingly used by expectant parents. Much provision of this test in Australia is occurring in clinical settings where specialised genetic counselling is unavailable, such as general practice.
Shannon McKinn+7 more
wiley +1 more source
Recurrent patterns of DNA copy number alterations in tumors reflect metabolic selection pressures. [PDF]
Copy number alteration (CNA) profiling of human tumors has revealed recurrent patterns of DNA amplifications and deletions across diverse cancer types.
Balanis, Nikolas G+25 more
core +3 more sources
Embryo aneuploidy and ivf outcomes in patients with different spermatozoa aneuploidy rates
Our goal was to study the 13, 18, 21, X, Y chromosomes aneuploidy rate in the embryos of the couples with different spermatozoa aneuploidy rate.In prospective cohort study 56 infertile couples were divided into 3 groups by the spermatozoa aneuploidy rate
S A Sokur+4 more
doaj
Serine-Dependent Sphingolipid Synthesis Is a Metabolic Liability of Aneuploid Cells
Aneuploidy disrupts cellular homeostasis. However, the molecular mechanisms underlying the physiological responses and adaptation to aneuploidy are not well understood.
Sunyoung Hwang+10 more
doaj +1 more source
Scientific Opinion on Flavouring Group Evaluation 63, Revision 3 (FGE.63Rev3): aliphatic secondary alcohols, ketones and related esters evaluated by JECFA (59th and 69th meetings) structurally related to saturated and unsaturated aliphatic secondary alcohols, ketones and esters of secondary alcohols and saturated linear or branched-chain carboxylic acids evaluated by EFSA in FGE.07Rev4 [PDF]
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Binderup, Mona-Lise+29 more
core +2 more sources
Recently it has been suggested that the human brain contains aneuploid cells; however the nature and magnitude of neural aneuploidy in health and disease remain obscure. Here, we have monitored aneuploidy in the cerebral cortex of the normal, Alzheimer's
Ivan Y. Iourov+3 more
doaj
Fork rotation and DNA precatenation are restricted during DNA replication to prevent chromosomal instability [PDF]
Faithful genome duplication and inheritance require the complete resolution of all intertwines within the parental DNA duplex. This is achieved by topoisomerase action ahead of the replication fork or by fork rotation and subsequent resolution of the DNA
Anna L. Chambers+5 more
core +2 more sources
What's New? While estrogens, obesity, and alcohol are recognized risk factors for breast cancer, a viral hypothesis has been suggested based on the murine model of Mouse Mammary Tumor Virus (MMTV)‐induced mammary tumors. This study analyzed sequences of the human homolog of MMTV across human breast carcinoma histotypes, detecting the virus in all types
Prospero Civita+12 more
wiley +1 more source
Machine Learning Reveals Aneuploidy Characteristics in Cancers: The Impact of BEX4
Background: Aneuploidy is crucial yet under-explored in cancer pathogenesis. Specifically, the involvement of brain expressed X-linked gene 4 (BEX4) in microtubule formation has been identified as a potential aneuploidy mechanism ...
Aizhong Xu+13 more
doaj +1 more source