Results 261 to 270 of about 36,602 (286)
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Congenital imprinting disorders
Endocrine Abstracts, 2022Claire Power +3 more
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Genomic imprinting and human hereditary disorders
Molecular Biology, 2000Modern 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
2018Abstract 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
2018DNA 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
2011Abstract 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 +2 more
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[Epigenetics, genomic imprinting and developmental disorders].
Bulletin de l'Academie nationale de medecine, 2011Epigenetic phenomena play a key role in regulating gene expression. One of the most widely studied epigenetic modification is DNA methylation at cytosine residues of CpG dinucleotides in gene promoters, transposons and imprinting control regions (ICR).
Yves, Le Bouc +6 more
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Imprinted genes in placental growth and obstetric disorders
Cytogenetic and Genome Research, 2006Genomic imprinting has a special role in placental biology. Imprinted genes are often strongly expressed in the placenta, and the allelic expression bias due to imprinting is sometimes stronger in this extraembryonic organ than in the embryo and adult.
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Hepatic mesenchymal hamartoma: A disorder of imprinting?
Pediatric and Developmental Pathology, 2006Robyn C, Reed, Raj P, Kapur
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Genomic imprinting disorders: lessons on how genome, epigenome and environment interact
Nature Reviews Genetics, 2019David Monk +2 more
exaly
Clinical spectrum and management of imprinting disorders
Medizinische Genetik, 2020Miriam Elbracht +2 more
exaly