Results 51 to 60 of about 3,137,340 (284)

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

New developments in Silver-Russell syndrome and implications for clinical practice [PDF]

, 2016
Silver-Russell syndrome is a clinically and genetically heterogeneous disorder, characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features.
Ishida, M
core   +1 more source

DNA methylation and trinucleotide repeat expansion diseases [PDF]

, 2012
Copyright @ 2012 InTechThis article has been made available through the Brunel Open Access Publishing Fund.This article is made available through the Brunel Open Access Publishing ...
Pook, M
core   +2 more sources

Imprinting disorders in children born after ART: a Nordic study from the CoNARTaS group.

Human Reproduction, 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 ...
A. Henningsen, M. Gissler, S. Rasmussen, S. Opdahl, U. Wennerholm, A. L. Spangsmose, A. Tiitinen, C. Bergh, L. Romundstad, H. Laivuori, J. Forman, A. Pinborg, Ø. Lidegaard   +12 more
semanticscholar   +1 more source

A global disorder of imprinting in the human female germ line [PDF]

, 2002
Imprinted genes are expressed differently depending on whether they are carried by a chromosome of maternal or paternal origin. Correct imprinting is established by germline-specific modifications; failure of this process underlies several inherited ...
A Kerjean, BE Hayward, BE Hayward, BE Hayward, Bruce E. Hayward, D Bourc’his, David T. Bonthron, Eamonn Sheridan, Hannah Judson, J Liu, J Liu, JS Sutcliffe, K Buiting, L Strain, M Kamiya, MN Helwani, MP Lee, NJ Smilinich, O El-Maarri, R Shemer, RA Fisher, RJ Gardner, S Engemann, SJ Clark, SK Murphy, T Kajii, T Kaneko-Ishino, T Ohta, W Reik, W Reik, YB Moglabey   +30 more
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

Quantitative trait loci for bone traits segregating independently of those for growth in an F-2 broiler X layer cross [PDF]

, 2007
An F broiler-layer cross was phenotyped for 18 skeletal traits at 6, 7 and 9 weeks of age and genotyped with 120 microsatellite markers. Interval mapping identified 61 suggestive and significant QTL on 16 of the 25 linkage groups for 16 traits.
A.S. Law, Bradshaw RH, D.R. Morrice, D.W. Burt, de Koning DJ, de Koning DJ, Duff SRI, Haley CS, Hiney KM, Hocking PM, Hocking PM, Ikeobi CON, Ikeobi CON, Jansen R, Knott SA, Law AS, Manichaikul A, Moore T, Navarro P, Nicholson D, P.M. Hocking, P.W.A. Sharman, Sasaki O, Schreiweis MA, Seaton G, Sewalem A, Smith C, Williams B, Wong GKS, Zeng Z-B   +29 more
core   +1 more source

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

The long non-coding RNA Kcnq1ot1 controls maternal p57 expression in muscle cells by promoting H3K27me3 accumulation to an intragenic MyoD-binding region [PDF]

, 2019
BACKGROUND: The cell-cycle inhibitor p57kip2 plays a critical role in mammalian development by coordinating cell proliferation and differentiation in many cell types.
Andresini, Oriella, Maione, Rossella, Matteini, Francesca, Petrai, Stefano, Rossi, Marianna Nicoletta, Santini, Tiziana   +5 more
core   +4 more sources

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