Results 211 to 220 of about 17,518 (240)

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
openaire   +1 more source

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

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
openaire   +1 more source

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

Anticipation and imprinting in Japanese familial mood disorders

Psychiatry Research, 1998
Several reports have suggested the presence of anticipation and imprinting in Caucasian families with either unipolar or bipolar affective disorders. In practice, families consisting of subjects with bipolar and unipolar affective disorders are common, whereas unipolar cases were not included in the analysis because of their uncertain diagnostic status.
K, Ohara, Y, Suzuki, Y, Ushimi, K, Yoshida, K, Ohara   +4 more
openaire   +2 more sources

Congenital imprinting disorders

Endocrine Abstracts, 2022
Claire Power, Lynch Sally Ann, hIci Bronagh O, Susan M O' Connell   +3 more
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.
openaire   +1 more source

Imprinting and skeletal disorders: lessons from pseudohypoparathyroidism and related disorders

Journal of Bone and Mineral Research
Abstract Pseudohypoparathyroidism (PHP) was first described as a syndrome characterized by PTH resistance combined with skeletal abnormalities known as Albright’s hereditary osteodystrophy (AHO). Studies have since focused on genetic or epigenetic alterations underlying PHP and related disorders.
Yorihiro Iwasaki, Murat Bastepe
openaire   +2 more sources

Imprinted genes in placental growth and obstetric disorders

Cytogenetic and Genome Research, 2006
Genomic 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.
openaire   +2 more sources

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
openaire   +2 more sources