Results 11 to 20 of about 50,865 (308)
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 299-305, January 2023., 2023 Abstract Informing parents that their child has a diagnosis of Down syndrome (DS) is a common example of the delivery of unexpected or difficult news. Expectations and life planning will change, and if detected prenatally, discussions might include the option of pregnancy termination.
Ashley M. Vanasse +8 more
wiley +1 more source
Sex bias in Neolithic megalithic burials
American Journal of Biological Anthropology, Volume 180, Issue 1, Page 196-206, January 2023., 2023 Abstract Objectives A statistical study comparing osteological and ancient DNA determinations of sex was conducted in order to investigate whether there are sex biases in United Kingdom and Irish Neolithic megalithic burials. Materials and Methods Genetic and osteological information from human individuals from 32 megalithic sites in the UK and Ireland
Elliot Elliott +4 more
wiley +1 more source
How germline genes promote malignancy in cancer cells
BioEssays, Volume 45, Issue 1, January 2023., 2023 We hypothesize that activation of a “germline program” promotes oncogenesis. Expression of otherwise germline specific genes may result in pseudomeiotic activity, thereby promoting oncogenesis through genomic instability. Other processes that are differentially regulated in the germline, such as migration and epigenetic – and metabolic plasticity, may ...
Jan Willem Bruggeman +4 more
wiley +1 more source
Environmental and Molecular Mutagenesis, Volume 63, Issue 8-9, Page 389-399, December 2022., 2022 Abstract Black cohosh (BC; Actaea racemosa L.), a top‐selling botanical dietary supplement, is marketed to women primarily to ameliorate a variety of gynecological symptoms. Due to widespread usage, limited safety information, and sporadic reports of hepatotoxicity, the Division of the National Toxicology Program (DNTP) initially evaluated BC extract ...
Stephanie L. Smith‐Roe +15 more
wiley +1 more source
Genes, Chromosomes and Cancer, Volume 62, Issue 2, Page 93-100, February 2023., 2023 Abstract Chromosomal instability is a common feature in malignant tumors. Previous studies have indicated that inactivation of the classical tumor suppressor genes RB1, CDKN2A, and TP53 may contribute to chromosomal aberrations in cancer by disrupting different aspects of the cell cycle and DNA damage checkpoint machinery.
Natalie Andersson +6 more
wiley +1 more source
de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project
Human Mutation, Volume 43, Issue 12, Page 1979-1993, December 2022., 2022 Abstract Detection of de novo variants (DNVs) is critical for studies of disease‐related variation and mutation rates. To accelerate DNV calling, we developed a graphics processing units‐based workflow. We applied our workflow to whole‐genome sequencing data from three parent‐child sequenced cohorts including the Simons Simplex Collection (SSC), Simons
Jeffrey K. Ng +16 more
wiley +1 more source
Infant and Child Development, Volume 31, Issue 6, November/December 2022., 2022 Abstract There has been significant and extensive knowledge production in the last four decades regarding pragmatic language impairment (PLI) in children with neurodevelopmental disorders. The evidence contained in this literature, however, is contradictory. The present scoping review (ScR) seeks to disentangle competing explanations of conceptualizing,
Ahmed Alduais +5 more
wiley +1 more source
Aneuploidy: Tolerating Tolerance [PDF]
Current Biology, 2015 Individuals, and cells, vary in their ability to tolerate aneuploidy, an unbalanced chromosome complement. Tolerance mechanisms can be karyotype-specific or general. General tolerance mechanisms may allow cells to benefit from the phenotypic plasticity conferred by access to multiple aneuploid states.
Aimée M. Dudley, Gareth A. Cromie
openaire +3 more sources
International Journal of Gynecology &Obstetrics, Volume 160, Issue 1, Page 150-160, January 2023., 2023 Abstract Objective Pre‐eclampsia (PE) and small for gestational age (SGA) can be predicted from the first trimester. The most widely used algorithm worldwide is the Fetal Medicine Foundation (FMF) algorithm. The recently described Gaussian algorithm has reported excellent results although it is unlikely to be externally validated.
Berta Serrano +11 more
wiley +1 more source
FoxM1 repression during human aging leads to mitotic decline and aneuploidy-driven full senescence
Nature Communications, 2018 Evidence for mitotic decline in aged cells and for aneuploidy-driven progression into full senescence is limited. Here, the authors find that in aged cells, mitotic gene repression leads to increased chromosome mis-segregation and aneuploidy that ...
Joana Catarina Macedo +9 more
doaj +1 more source