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Imprinting disorders and assisted reproductive technology [PDF]

Fertility and Sterility, 2009
Worldwide use of assisted reproductive technology (ART) accounts for an estimated 1 to 3% of births. Since 2002, a series of reports have suggested an increased risk of imprinting disorders (Beckwith-Wiedemann syndrome and Angelman syndrome) in children conceived by ART.
James H Segars
exaly   +8 more sources

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Imprinted disorders and growth

Annales d'Endocrinologie, 2017
Fetal growth is a complex process. Its restriction is associated with morbidity and long-term metabolic consequences. Imprinted genes have a critical role in mammalian fetal growth. Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are two imprinting disorders with opposite fetal growth disturbance.
Giabicani, Eloïse, Brioude, Frédéric, Le Bouc, Yves, Netchine, Irène   +3 more
openaire   +3 more sources

Imprinting disorders after assisted reproductive technologies

Current Opinion in Obstetrics & Gynecology, 2006
To assess the evidence of an increased risk of imprinting diseases in children born after use of assisted reproductive technologies.Imprinting disorders occur when the epigenetic programming during gametogenesis is disturbed, or when this programming is not sufficiently sustained during the process of fertilization and early embryonic development.
Lidegaard, Øjvind, Pinborg, Anja, Andersen, Anders Nyboe   +2 more
openaire   +3 more sources

Sleep disorders in imprinting disorders

S.S. Korsakov Journal of Neurology and Psychiatry
A literature review of the current state of the etiology and pathogenesis of genomic imprinting disorders such as Angelman syndrome and Prader—Willi syndrome was performed. The mechanisms of the development of sleep disorders associated with these syndromes related to impaired expression of specific genes are considered in detail.
E.M. Ivannikova, T.Yu. Degtyarevskaya, N.N. Tarasova, E.A. Tinyatov, A.N. Magomedova, K.A. Magomedova   +5 more
openaire   +2 more sources

GENOMIC IMPRINTING IN DISORDERS OF GROWTH

Endocrinology and Metabolism Clinics of North America, 1996
This review has briefly considered some of the vast amount of information that has been gathered on genomic imprinting and its role in PWS, AS, BWS and Russell-Silver syndrome. The pace of investigation into the phenomenon of imprinting will undoubtedly continue, because our understanding remains far from complete.
openaire   +2 more sources

Imprinting Disorders of Early Childhood

2011
Imprinted genes are exceptional in that one allele is silenced (imprinted) in a parent of origin specific manner, making the two parental alleles functionally different. Imprinted genes are known to play a vital role in fetal growth and normal metabolism and most of the medical conditions caused by aberrant imprinting result in problems with growth ...
I. Karen Temple, Jill Clayton-Smith, Deborah J. G. Mackay   +2 more
openaire   +1 more source

Disturbed Methylation at Multiple Imprinted Loci: an Increasing Observation in Imprinting Disorders

Epigenomics, 2011
The widely accepted association between aberrant methylation at specific imprinted loci and distinct imprinting disorders has recently been brought into question by the identification of methylation defects at multiple loci (multilocus methylation defect [MLMD]). Strikingly, in different imprinting disorders, the same MLMD patterns can be observed. The
Thomas, Eggermann, Isabelle, Leisten, Gerhard, Binder, Matthias, Begemann, Sabrina, Spengler   +4 more
openaire   +2 more sources

Epigenetic Mosaicism in Genomic Imprinting Disorders

Russian Journal of Genetics, 2019
Differential gene expression during development is maintained by complex regulatory epigenetic mechanisms that provide the formation of different specialized cell types. Subsequently, a multicellular organism is a mosaic of cells with differing epigenetic characteristics.
E. A. Sazhenova, I. N. Lebedev
openaire   +1 more source

Recent Advances in Imprinting Disorders

NeoReviews, 2017
Genetic imprinting is a biological phenomenon arising from the fact that maternal and paternal contributions to the offspring’s autosomal genes have specific markers or imprints. These imprints contribute uniquely to gene expression based on the parent of origin of the active allele.
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Genomic imprinting and genetic disorders in man

Trends in Genetics, 1989
In a considerable number of genetic disorders in the human, the phenotypic expression of the disease can depend on maternal or paternal inheritance of the mutation. It is suggested that genomic imprinting, an epigenetic process that marks maternal and paternal chromosomes in mammals, is involved in such parental effects.
openaire   +2 more sources