Results 201 to 210 of about 17,518 (240)

Loss of maternal PADI6 disrupts DNA methylation and genomic imprinting maintenance in late preimplantation mouse embryos. [PDF]

Epigenetics Chromatin
Giaccari C, Cecere F, Pagano A, D'Angelo E, Saadat A, Mele L, Salerno P, Merla G, Cerrato F, Riccio A.   +9 more
europepmc   +1 more source

EndoCompass Project: Research Roadmap for Growth Disorders.

Horm Res Paediatr
Gevers EF, Hokken-Koelega AC, Tauber M, Binder G, Bochukova EG, Bouret SG, Caixàs A, Davies JH, Dauber A, Edouard T, Eggermann T, Giabicani E, Netchine I, Nilsson O, Saravinovska K, van der Steen M, Tartaglia M, Tatton-Brown K, Temple IK, Yart A, Zenker M.   +20 more
europepmc   +1 more source

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Imprinting disorders

Nature Reviews Disease Primers, 2023
Imprinting disorders (ImpDis) are congenital conditions that are characterized by disturbances of genomic imprinting. The most common individual ImpDis are Prader-Willi syndrome, Angelman syndrome and Beckwith-Wiedemann syndrome. Individual ImpDis have similar clinical features, such as growth disturbances and developmental delay, but the disorders are
Miriam Elbracht, Andrea Riccio, David Monk   +2 more
exaly   +9 more sources

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

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

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

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