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RetroFun-RVS: A Retrospective Family-Based Framework for Rare Variant Analysis Incorporating Functional Annotations.
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Department of Social and Preventive Medicine, Laval University, Quebec City, Quebec, Canada.
A large proportion of genetic variations involved in complex diseases are rare and located within noncoding regions, making the interpretation of underlying biological mechanisms a daunting task. Although technical and methodological progress has been made to annotate the genome, current disease-rare-variant association tests incorporating such annotations suffer from two major limitations. First, they are generally restricted to case-control designs of unrelated individuals, which often require tens or hundreds of thousands of individuals to achieve sufficient power.
View Article and Find Full Text PDFPolycystic Ovarian Syndrome: A Review of Multi-omics Analyses.
Reprod Sci
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Department of Zoology, Zakir Husain Delhi College (University of Delhi), J.L.N. Marg, New Delhi, 110002, India.
Polycystic Ovary Syndrome (PCOS) is among the most prevalent endocrinological abnormalities of young females, posing a grave public health challenge to the society. The objective of the present literature review is to analyze the enormous amount of information available by way of numerous multi-omic studies, and to explore a meaningful relationship between various factors such as genetic, proteomic, environmental etc. to understand the multifactorial metabolic disorder in a proper manner.
View Article and Find Full Text PDFPolygenic burden of short tandem repeat expansions promotes risk for Alzheimer's disease.
Nat Commun
January 2025
Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA.
Studies of the genetics of Alzheimer's disease (AD) have largely focused on single nucleotide variants and short insertions/deletions. However, most of the disease heritability has yet to be uncovered, suggesting that there is substantial genetic risk conferred by other forms of genetic variation. There are over one million short tandem repeats (STRs) in the genome, and their link to AD risk has not been assessed.
View Article and Find Full Text PDFEpigenetic modulation of social cognition: exploring the impact of methylation in brain-derived neurotrophic factor and oxytocin receptor genes across sex.
Sci Rep
January 2025
Section of Self, Affect and Neuroscience, Institute of Behavioral Science in Medicine, Yonsei University College of Medicine, Seoul, Republic of Korea.
Social cognition, which ranges from recognizing social cues to intricate inferential reasoning, is influenced by environmental factors and epigenetic mechanisms. Notably, methylation variations in stress-related genes like brain-derived neurotrophic factor (BDNF) and the oxytocin receptor (OXTR) are linked to distinct social cognitive functions and exhibit sex-specific differences. This study investigates how these methylation differences affect social cognition across sexes, focusing on both perceptual and inferential cognitive levels.
View Article and Find Full Text PDFMelatonin influence on miRNA expression in sperm, hypothalamus, pre-frontal cortex and cerebellum of Wistar rats.
PLoS One
January 2025
Laboratory of Developmental Biology, Department of Morphology and Genetics-Paulista Medicine School, Federal University of Sao Paulo (UNIFESP), Sao Paulo, SP, Brazil.
Melatonin is a pineal hormone synthesized exclusively at night, in several organisms. Its action on sperm is of particular interest, since they transfer genetic and epigenetic information to the offspring, including microRNAs, configuring a mechanism of paternal epigenetic inheritance. MicroRNAs are known to participate in a wide variety of mechanisms in basically all cells and tissues, including the brain and the sperm cells, which are known, respectively, to present 70% of all identified microRNAs and to transfer these molecules to the embryo.
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