Results 41 to 50 of about 18,499 (269)

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, Algirdas Utkus, Vaidutis Kučinskas   +2 more
doaj   +1 more source

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, Thomas Eggermann, Karl Oliver Kagan, Markus Hoopmann, Miriam Elbracht   +4 more
openaire   +3 more sources

Imprinting disorders in children born after assisted reproductive technology (ART):a Nordic study from the CoNARTaS group

, 2020
STUDY QUESTION: Is the risk of imprinting disorders increased in children conceived after ART? SUMMARY ANSWER: We found an adjusted odds ratio (AOR) of 2.84 [95% CI: 1.34-6.01] for Beckwith-Wiedemann syndrome in ART children, while the risk of Prader ...
Henningsen, A. K. A., Forman, J. L., Henningsen, A. A., Spangsmose, AL, Lidegaard, O., Romundstad, LB, Laivuori, H, Rasmussen, S, Tiitinen, A, Laivuori, H., Bergh, Christina,, Bergh, C., Forman, J., Henningsen, AA, Opdahl, S, Wennerholm, U. B., Wennerholm, Ulla-Britt,, Gissler, M., Spangsmose, A. L., Romundstad, L. B., Spangmose, A. L., Gissler, M,, Wennerholm, UB, Tiitinen, A., Pinborg, A., Bergh, C, Rasmussen, S., Opdahl, S., Pinborg, A. B.   +28 more
core   +1 more source

Deciphering the genetic and epigenetic basis of human imprinting and chromatin disorders

, 2023
Aberrant DNA methylation patterns, including disturbances in genomic imprinting, have been linked to congenital imprinting disorders as well as various disease conditions, including cancer, chromatin disorders, and neurodevelopmental disorders.

core   +1 more source

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, Joannella Morales, Johan T. den Dunnen, Silvia Russo, Franck Court, Dirk Prawitt, Thomas Eggermann, Jasmin Beygo, Karin Buiting, Zeynep Tümer, the Nomenclature group of the European Network for Human Congenital Imprinting Disorders   +10 more
doaj   +1 more source

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

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, M. P. Lombardi, M. Alders, P. Henneman, J. Bliek   +4 more
doaj   +1 more source

The mRNA Expression and Methylation Status in Imprinting Control Region of H19 Gene Between Cattle-Yak and Their Parents

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, Zhen-shan LIU, Zeng-xiang PAN, Hua LUO, Zhuang XIE, Qi-fa LI   +5 more
doaj   +1 more source

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, Max Jiahua Li, Yang Yang, Yun Bai   +3 more
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, Jiang Zhu, Bo Huang, Yanshuang Mu, Qingran Kong, Zhonghua Liu   +5 more
doaj   +1 more source