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Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.23971
Abstract: The mechanisms underlying de novo insertion/deletion (indel) genesis, such as polymerase slippage, have been hypothesized but not well characterized in the human genome. We implemented two methodological improvements, which were leveraged to dissect indel mutagenesis.…
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Keywords:
parent origin;
insertion deletion;
biology;
origin phasing ... See more keywords
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Published in 2020 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-9865-4_11
Abstract: Upon fertilization, normal endosperm and embryo development require the contribution of both the maternal and paternal genomes. However, certain genes are expressed in a parent-of-origin-dependent manner, an epigenetic phenomenon known as genomic imprinting. Despite the…
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Keywords:
manner;
expression parent;
parent origin;
gene expression ... See more keywords
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Published in 2018 at "Behavior Genetics"
DOI: 10.1007/s10519-017-9880-0
Abstract: We propose a new method, G-REMLadp, to estimate the phenotypic variance explained by parent-of-origin effects (POEs) across the genome. Our method uses restricted maximum likelihood analysis of genome-wide genetic relatedness matrices based on individuals’ phased…
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Keywords:
parent origin;
relatedness matrices;
variance;
parent ... See more keywords
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Published in 2019 at "Current Opinion in Behavioral Sciences"
DOI: 10.1016/j.cobeha.2018.06.007
Abstract: Genes can behave in ways that are conditional upon their parent-of-origin. The best understood form of this is genomic imprinting (GI), which typically involves the silencing of a gene originating from one parent and the…
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Keywords:
parent origin;
expression;
parent;
origin specific ... See more keywords
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Published in 2019 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.1910072116
Abstract: Significance Sex differences are naturally occurring disease modifiers that, if understood, could lead to novel targets for drug development. Autoimmune diseases are more prevalent in women than in men, and sex differences in immune responses…
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Keywords:
methylation;
parent origin;
expression;
dna methylation ... See more keywords
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Published in 2018 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddy206
Abstract: Abstract Genomic imprinting is an epigenetic mechanism leading to parent-of-origin silencing of alleles. So far, the precise number of imprinted regions in humans is uncertain. In this study, we leveraged genome-wide DNA methylation in whole…
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Keywords:
genome wide;
methylation;
dna methylation;
parent origin ... See more keywords
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Published in 2022 at "Plant Physiology"
DOI: 10.1093/plphys/kiac520
Abstract: Genomic imprinting promotes differential expression of parental alleles in the endosperm of flowering plants, and is regulated by epigenetic modification such as DNA methylation and histone tail modifications in chromatin. After fertilization, the endosperm develops…
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Keywords:
parent origin;
genomic imprinting;
expression;
allelic expression ... See more keywords
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Published in 2019 at "Journal of Animal Breeding and Genetics"
DOI: 10.1111/jbg.12382
Abstract: Variances caused by the differential expression of paternally and maternally imprinted genes controlling carcass traits in Japanese Black cattle were estimated in this study. Data on marbling score (BMS), carcass weight, rib thickness, rib-eye area…
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Keywords:
black cattle;
traits japanese;
japanese black;
parent origin ... See more keywords
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Published in 2021 at "PLoS Genetics"
DOI: 10.1371/journal.pgen.1009413
Abstract: Previous research on risk factors for obstructive heart defects (OHDs) focused on maternal and infant genetic variants, prenatal environmental exposures, and their potential interaction effects. Less is known about the role of paternal genetic variants…
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Keywords:
risk;
parent origin;
genetic variants;
obstructive heart ... See more keywords
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Published in 2018 at "PLoS ONE"
DOI: 10.1371/journal.pone.0203906
Abstract: Genomic imprinting is the phenomena that leads to silencing of one copy of a gene inherited from a specific parent. Mutations in imprinted regions have been involved in diseases showing parent of origin effects. Identifying…
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Keywords:
gene expression;
parent origin;
parent;
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Published in 2018 at "Biomarkers in medicine"
DOI: 10.2217/bmm-2018-0020
Abstract: AIM The aim of the study was to explore the parent-of-origin effects (POEs) on a range of human nuclear magnetic resonance metabolites. MATERIALS & METHODS We search for POEs in 14,815 unrelated individuals from Estonian…
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Keywords:
parent origin;
nuclear magnetic;
resonance metabolites;
ptprd gene ... See more keywords