Results 41 to 50 of about 36,602 (286)

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

Novel strategies to cure imprinting disorders [PDF]

Medizinische Genetik, 2020
Abstract In imprinting disorders, where the active copy of an imprinted gene is mutated or lost, there is a unique opportunity for causal treatment by unsilencing the other, dormant allele. Depending on the mechanism by which the allele is silenced, unsilencing can be achieved by epigenetic drugs, antisense-oligonucleotides (ASOs) or ...
Horsthemke, Bernhard, Zechner, Ulrich
openaire   +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

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

Chromatin Modifiers, Cognitive Disorders, and Imprinted Genes [PDF]

Developmental Cell, 2010
In this issue of Developmental Cell, Kernohan et al. link the chromatin regulatory proteins ATRX, MeCP2, CTCF, and cohesin with silencing of H19 and other imprinted genes during critical stages of postnatal brain development, perhaps suggesting a common etiology for several human diseases that exhibit defects in brain development and function.
Cunningham, Melissa D., Kassis, Judith A., Pfeifer, Karl   +2 more
openaire   +2 more sources

Prenatal testing for imprinting disorders: A laboratory perspective

Prenatal Diagnosis, 2023
AbstractImprinting Disorders (ImpDis) are a group of congenital syndromes associated with up to four different types of molecular disturbances affecting the monoallelic and parent‐of‐origin specific expression of genomically imprinted genes. Though each ImpDis is characterized by aberrations at a distinct genetic site and a specific set of postnatal ...
Jasmin Beygo, Silvia Russo, Pierpaola Tannorella, Gijs W. E. Santen, Andreas Dufke, Elia Schlaich, Thomas Eggermann   +6 more
openaire   +3 more sources

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

Helminths in the hygiene hypothesis:Sooner or later? [PDF]

, 2014
There is increasing recognition that exposures to infectious agents evoke fundamental effects on the development and behaviour of the immune system. Moreover, where infections (especially parasitic infections) have declined, immune responses appear to be
Maizels, R. M., Mcsorley, H. J., Smyth, D. J.   +2 more
core   +4 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, Anderson, AE, Beitnere, U, Berg, EL, Born, HA, Cameron, DL, Copping, NA, Deng, P, Dindot, SV, Ellegood, J, Fenton, TA, Fink, KD, Harris, S, Lee, RD, Lerch, JP, Nash, KR, Nieman, BJ, Noakes, LS, O'Geen, H, Pedersen, LR, Peters, MM, Petkova, SP, Pride, MC, Segal, DJ, Shen, Y, Silverman, JL, Weeber, EJ, Wöhr, M   +27 more
core   +2 more sources

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