Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans. [PDF]
Nat Commun, 2015 Human-imprinting disorders are congenital disorders of growth, development and metabolism, associated with disturbance of parent of origin-specific DNA methylation at imprinted loci across the genome.
Docherty LE +20 more
europepmc +3 more sources
Journal of Integrative Agriculture, 2012 The H19 gene, which is imprinted with preferential expression from the maternal allele, was one of the first identified imprinting genes in mammals.
Ming-gui LI +5 more
doaj +1 more source
Further Introduction of DNA Methylation (DNAm) Arrays in Regular Diagnostics
Frontiers in Genetics, 2022 Methylation tests have been used for decades in regular DNA diagnostics focusing primarily on Imprinting disorders or specific loci annotated to specific disease associated gene promotors.
M. M. A. M. Mannens +4 more
doaj +1 more source
Parental imprinting: molecular mechanisms and related disorders [PDF]
, 2023 31 páginas, gráficos y tablas[ES] La impronta parental o impronta genómica es un fenómeno epigenético que regula la expresión génica diferencial según el origen parental del alelo.
Hernández Gutiérrez, Berta
core
Effects of reprogramming on genomic imprinting and the application of pluripotent stem cells
Stem Cell Research, 2019 Pluripotent stem cells are considered to be the ideal candidates for cell-based therapies in humans. In this regard, both nuclear transfer embryonic stem (ntES) cells and induced pluripotent stem (iPS) cells are particularly advantageous because patient ...
Xiajun Li +3 more
doaj +1 more source
CRISPR/Cas9 Epigenome Editing Potential for Rare Imprinting Diseases: A Review
Cells, 2020 Imprinting diseases (IDs) are rare congenital disorders caused by aberrant dosages of imprinted genes. Rare IDs are comprised by a group of several distinct disorders that share a great deal of homology in terms of genetic etiologies and symptoms ...
Linn Amanda Syding +3 more
doaj +1 more source
Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network [PDF]
, 2021 International audienceIntrauterine and postnatal growth disturbances are major clinical features of imprinting disorders, a molecularly defined group of congenital syndromes caused by molecular alterations affecting parentally imprinted genes.
Irène Netchine +15 more
core +2 more sources
Uniparental Disomy and Imprinting Disorders [PDF]
OBM Genetics, 2018 Uniparental disomy (UPD), the inheritance of both homologues of a chromosome from only one parent, has been reported for nearly all human chromosomes. Depending on its mode of formation and time of occurrence, UPD can be present in all cells of an organism, or restricted to some cell lines as a mosaic UPD.
Eggermann, Thomas +2 more
openaire +2 more sources
Trichostatin A rescues the disrupted imprinting induced by somatic cell nuclear transfer in pigs. [PDF]
PLoS ONE, 2015 Imprinting disorders induced by somatic cell nuclear transfer (SCNT) usually lead to the abnormalities of cloned animals and low cloning efficiency.
Yanjun Huan +5 more
doaj +1 more source
Alteration of Genomic Imprinting after Assisted Reproductive Technologies and Long-Term Health
Life, 2021 Assisted reproductive technologies (ART) are the treatment of choice for some infertile couples and even though these procedures are generally considered safe, children conceived by ART have shown higher reported risks of some perinatal and postnatal ...
Eguzkine Ochoa
doaj +1 more source