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Genomic imprinting
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Intrachromosomal triplications (TRP) can contribute to disease etiology via gene dosage effects, gene disruption, position effects, or fusion gene formation. Recently, post-zygotic de novo triplications adjacent to copynumber neutral genomic intervals with runs of homozygosity (ROH) have been shown to result in uniparental isodisomy (UPD).
14p
vibransone
28-03-2024
5
2
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Maternal effect mutations in the components of the subcortical maternal complex (SCMC) of the human oocyte can cause early embryonic failure, gestational abnormalities and recurrent pregnancy loss. Enigmatically, they are also associated with DNA methylation abnormalities at imprinted genes in conceptuses.
14p
vibransone
28-03-2024
4
2
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The association of in vitro fertilisation (IVF) and DNA methylation has been studied predominantly at regulatory regions of imprinted genes and at just thousands of the ~28 million CpG sites in the human genome.
15p
vioraclene
31-03-2024
3
2
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Genomics enables individualized diagnosis and treatment, but large challenges remain to functionally interpret rare variants. To date, only one causative variant has been described for KCNK9 imprinting syndrome (KIS). The genotypic and phenotypic spectrum of KIS has yet to be described and the precise mechanism of disease fully understood.
19p
viellison
28-03-2024
7
2
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Kagami–Ogata syndrome is a rare genetic imprinting disorder involving the 14q32.2 genomic location of chromosome 14. The estimated incidence is less than 1 per 1 million. Here we report a male neonate with Kagami– Ogata syndrome presenting with severe respiratory distress requiring mechanical ventilation since birth.
4p
vigamora
23-05-2023
7
3
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For dichotomous traits, the generalized disequilibrium test with the moment estimate of the variance (GDT-ME) is a powerful family-based association method. Genomic imprinting is an important epigenetic phenomenon and currently, there has been increasing interest of incorporating imprinting to improve the test power of association analysis.
12p
vinarcissa
21-03-2023
3
1
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Epigenetic defects (gain or loss of DNA methylation) of the human ICR1 11p15 domain result in two opposite foetal growth disorders (BWS and SRS) depending on which parental allele is affected. A few deletions within ICR1 have been reported in familial BWS cases with ICR1 gain of methylation, however the mechanism(s) of the DNA methylation defects at ICR1 remains largely unknown in most BWS and SRS patients.
83p
runthenight07
01-03-2023
5
2
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(BQ) Ebook Brain, behavior and epigenetics: Part 2 presents the following content: Chapter 8: The Strategies of the Genes: Genomic Conflicts, Attachment Theory, and Development of the Social Brain; Chapter 9: Genomic Imprinting Effects on Brain and Behavior: Future Directions; Chapter 10: Epigenetic Influence of the Social Environment; Chapter 11: Toward an Understanding of the Dynamic Interdependence of Genes and Environment in the Regulation of Phenotype; Chapter 12: Histone Deacetylase Inhibitors: A Novel Therapeutic Approach for Cognitive Disorders; Chapter 13: Epigenetic Mechanisms of ...
175p
runordie7
30-08-2022
7
2
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Genomic imprinting is an epigenetic phenomenon that allows a subset of genes to be expressed mono-allelically based on the parent of origin and is typically regulated by differential DNA methylation inherited from gametes.
17p
vielonmusk
30-01-2022
6
1
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Genomic imprinting is essential for mammalian development and provides a unique paradigm to explore intra-cellular differences in chromatin configuration. So far, the detailed allele-specific chromatin organization of imprinted gene domains has mostly been lacking.
17p
vielonmusk
30-01-2022
9
0
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Genomic imprinting is an epigenetic phenomenon that allows monoallelic expression of a subset of genes dependent on parental origin and is canonically regulated by DNA methylation.
4p
vialfrednobel
29-01-2022
11
0
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Polycomb repressive complex 2 (PRC2) catalyzes histone H3K27me3, which marks many transcriptionally silent genes throughout the mammalian genome. Although H3K27me3 is associated with silenced gene expression broadly, it remains unclear why some but not other PRC2 target genes require PRC2 and H3K27me3 for silencing.
17p
vialfrednobel
29-01-2022
16
0
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Epigenetic modifications, including DNA methylation, play an important role in gene silencing and genome stability. Consequently, epigenetic dysregulation can cause several diseases, such as cancer, obesity, diabetes, autism, and imprinting disorders.
17p
viarchimedes
26-01-2022
11
0
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Assisted reproductive technologies (ART) are widely used to treat fertility issues in humans and for the production of embryos in mammalian livestock. The use of these techniques, however, is not without consequence as they are often associated with inauspicious pre- and postnatal outcomes including premature birth, intrauterine growth restriction and increased incidence of epigenetic disorders in human and large offspring syndrome in cattle.
15p
vibeauty
23-10-2021
11
1
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Allele-specific transcriptional regulation, including of imprinted genes, is essential for normal mammalian development. While the regulatory regions controlling imprinted genes are associated with DNA methylation (DNAme) and specific histone modifications, the interplay between transcription and these epigenetic marks at allelic resolution is typically not investigated genome-wide due to a lack of bioinformatic packages that can process and integrate multiple epigenomic datasets with allelic resolution.
19p
vibeauty
23-10-2021
11
1
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SigProfilerMatrixGenerator: A tool for visualizing and exploring patterns of small mutational events
Cancer genomes are peppered with somatic mutations imprinted by different mutational processes. The mutational pattern of a cancer genome can be used to identify and understand the etiology of the underlying mutational processes.
12p
visilicon2711
20-08-2021
9
1
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DNA methylation has been shown to be involved in many biological processes, including X chromosome inactivation in females, paternal genomic imprinting, and others.
14p
viansan2711
30-07-2021
16
1
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Genomic imprinting is a process thereby a subset of genes is expressed in a parent-of-origin specific manner. This evolutionary novelty is restricted to mammals and controlled by genomic DNA segments known as Imprinting Control Regions (ICRs) and germline Differentially Methylated Regions (gDMRs).
16p
vijeeni2711
24-07-2021
7
0
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Polyploid species often originate recurrently. While this is well known, there is little information on the extent to which distinct allotetraploid species formed from the same parent species differ in gene expression.
12p
vilichoo2711
23-06-2021
15
1
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There are two genetically distinct subspecies of cattle, Bos taurus taurus and Bos taurus indicus, which arose from independent domestication events. The two types of cattle show substantial phenotypic differences, some of which emerge during fetal development and are reflected in birth outcomes, including birth weight.
10p
vilichoo2711
23-06-2021
15
1
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