Results 31 to 40 of about 17,518 (240)
Molecular testing for imprinting disorders [PDF]
Medizinische Genetik, 2020 AbstractImprinting disorders are a group of rare diseases with a broad phenotypic spectrum caused by a wide variety of genetic and epigenetic disturbances of imprinted genes or gene clusters. The molecular genetic causes and their respective frequencies vary between the different imprinting disorders so that each has its unique requirements for the ...
Beygo, Jasmin +3 more
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Prenatal testing for Imprinting Disorders: A clinical perspective
Prenatal Diagnosis, 2023 AbstractImprinting Disorders (ImpDis) are a group of congenital conditions caused by aberrant imprinting resulting in disturbed expression of parentally imprinted genes. ImpDis are rarely associated with major malformations, but pre‐ and/or postnatal growth and nutrition are often affected.
Andreas Dufke +4 more
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Imprinting and its disorders in evolutionary perspective
Acta Medica Lituanica, 2014 Bacground. Genomic imprinting is one of the best-studied epigenetic phenomena involving all the main epigenetic processes. Recent investigations led to a huge expansion of knowledge in this field and changed some established paradigms regarding ...
Birutė Tumienė +2 more
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Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains
Epigenetics, 2018 The analysis of DNA methylation has become routine in the pipeline for diagnosis of imprinting disorders, with many publications reporting aberrant methylation associated with imprinted differentially methylated regions (DMRs).
David Monk +10 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
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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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
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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
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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
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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
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