Results 261 to 270 of about 3,137,340 (284)

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.
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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
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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
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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
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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.
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Ongoing Challenges in the Diagnosis of 11p15.5-Associated Imprinting Disorders

Molecular Diagnosis & Therapy, 2022
D. Mackay, I. Temple
semanticscholar   +1 more source

Genomic imprinting and human hereditary disorders

Molecular Biology, 2000
Modern data are reviewed that concern hereditary disorders caused by abnormal expression of imprinted genes rather than mutations and structural aberrations. As an example, the molecular organization of the critical chromosomal region 15(q11.2–q13) and the possible pathogenetic mechanisms are described in detail for Prader-Willi and Angelman syndromes.
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Uniparental Disomy and Disorders of Imprinting

2018
Abstract Uniparental disomy (UPD) is a fascinating pathogenetic mechanism, albeit that it is applicable only to a small but important number of conditions. This chapter discusses the basis of UPD and the different mechanisms by which it may arise. It reviews the concept of epigenetics in this setting.
R. J McKinlay Gardner, David J Amor
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Epigenetics of Circadian Rhythms in Imprinted Neurodevelopmental Disorders

2018
DNA sequence information alone cannot account for the immense variability between chromosomal alleles within diverse cell types in the brain, whether these differences are observed across time, cell type, or parental origin. The complex control and maintenance of gene expression and modulation are regulated by a multitude of molecular and cellular ...
Rochelle L, Coulson, Janine M, LaSalle
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Uniparental Disomy and Disorders of Imprinting

2011
Abstract UNIPARENTAL DISOMY IS A FASCINATING and important pathogenetic mechanism, albeit that it is the basis of only a small number of well-defined clinical conditions. At the outset, we may list these seven major syndromes: Prader-Willi syndromeAngelman syndromeBeckwith-Wiedemann syndromeSilver-Russell ...
R. J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer   +2 more
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