Frontiers in Pediatrics, 2020 Kagami–Ogata syndrome (KOS) is a rare imprinting disorder characterized by skeletal abnormalities, dysmorphic facial features, growth retardation and developmental delay.
Xiaoxue Wang +8 more
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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
The expression and assessment of emotions and internal states in individuals with severe or profound intellectual disabilities [PDF]
, 2011 The expression of emotions and internal states by individuals with severe or profound intellectual disabilities is a comparatively under-researched area. Comprehensive or standardised methods of assessing or understanding the emotions and internal states
Adams, Dawn, Christopher, Oliver
core +1 more source
Early Diagnosis in Prader-Willi Syndrome Reduces Obesity and Associated Co-Morbidities. [PDF]
, 2019 Prader-Willi syndrome (PWS) is an imprinting genetic disorder characterized by lack of expression of genes on the paternal chromosome 15q11-q13 region. Growth hormone (GH) replacement positively influences stature and body composition in PWS.
Butler, Merlin G +10 more
core +2 more sources
Translational outcomes in a full gene deletion of ubiquitin protein ligase E3A rat model of Angelman syndrome. [PDF]
, 2020 Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by developmental delay, impaired communication, motor deficits and ataxia, intellectual disabilities, microcephaly, and seizures. The genetic cause of AS is the loss of expression
Adhikari, A +27 more
core +2 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
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Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome
Disease Models & Mechanisms, 2020 Genomic imprinting, a phenomenon in which the two parental alleles are regulated differently, is observed in mammals, marsupials and a few other species, including seed-bearing plants. Dysregulation of genomic imprinting can cause developmental disorders
Suhee Chang, Marisa S. Bartolomei
doaj +1 more source
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
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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