Association of four imprinting disorders and ART [PDF]
Clinical Epigenetics, 2019 Background Human-assisted reproductive technologies (ART) are a widely accepted treatment for infertile couples. At the same time, many studies have suggested the correlation between ART and increased incidences of normally rare imprinting disorders such
Hiromitsu Hattori +10 more
doaj +5 more sources
The Role of Long Non-coding RNAs in Human Imprinting Disorders: Prospective Therapeutic Targets [PDF]
Frontiers in Cell and Developmental Biology, 2021 Genomic imprinting is a term used for an intergenerational epigenetic inheritance and involves a subset of genes expressed in a parent-of-origin-dependent way.
Tingxuan Wang +4 more
doaj +2 more sources
Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders [PDF]
Epigenetics, 2018 The identification of multilocus imprinting disturbances (MLID) appears fundamental to uncover molecular pathways underlying imprinting disorders (IDs) and to complete clinical diagnosis of patients.
L. Fontana +16 more
doaj +3 more sources
Imprinting disorders as a window to understand pediatric feeding disorders [PDF]
Orphanet Journal of Rare DiseasesImprinting disorders are a group of rare congenital disorders characterized by common clinical features that affect growth, development, metabolism, and shared molecular abnormalities [1].
Juliette Salles +4 more
doaj +2 more sources
Chromosome 15 Imprinting Disorders: Genetic Laboratory Methodology and Approaches [PDF]
Frontiers in Pediatrics, 2020 Chromosome 15 imprinting disorders include Prader-Willi (PWS) and Angelman (AS) syndromes, which are caused by absent expression from the paternal and maternal alleles in the chromosome 15q11. 2–q13 region, respectively.
Merlin G. Butler, Jessica Duis
doaj +2 more sources
Association of Assisted Reproductive Technology Treatments with Imprinting Disorders [PDF]
Global Medical Genetics, 2021 Assisted reproductive technology (ART) is a broad field in infertility that encompasses different types of treatments. These revolutionary treatment methods aimed to aid infertile or subfertile couples. Treatment was expanded exponentially, as 1 to 3% of
T. Kopca, Pinar Tulay
doaj +2 more sources
Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice. [PDF]
PLoS Genetics, 2018 Differential DNA methylation defects of H19/IGF2 are associated with congenital growth disorders characterized by opposite clinical pictures. Due to structural differences between human and mouse, the mechanisms by which mutations of the H19/IGF2 ...
Andrea Freschi +12 more
doaj +3 more sources
ImprintCap, a powerful NGS-based technology to investigate the molecular background of imprinting disorders [PDF]
Clinical EpigeneticsIntroduction Imprinting disorders (IDs) are a rare class of diseases caused by the disruption of imprinted genes, i.e., genes with a specific pattern of expression from only one allele.
Frédéric Brioude +6 more
doaj +2 more sources
The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders [PDF]
Epigenetics, 2018 Temple syndrome (TS14) is a rare imprinting disorder caused by genetic and epigenetic alterations on chromosome 14q32. A subset of these patients shows an imprinting defect (ID) where the paternal allele harbors a maternal epigenotype thus silencing the ...
Jasmin Beygo +6 more
doaj +2 more sources
Epigenetic Mechanisms of ART-Related Imprinting Disorders: Lessons From iPSC and Mouse Models [PDF]
Genes, 2021 Alex Horanszky +2 more
exaly +2 more sources