Cynomolgus-rhesus hybrid macaques serve as a platform for imprinting studies
The Innovation, 2023 Genomic imprinting can lead to allele-specific expression (ASE), where one allele is preferentially expressed more than the other. Perturbations in genomic imprinting or ASE genes have been widely observed across various neurological disorders, notably ...
Zongyang Lu +12 more
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Imprinting alterations in sperm may not significantly influence ART outcomes and imprinting patterns in the cord blood of offspring. [PDF]
PLoS ONE, 2017 An increase in imprinting disorders in children conceived though assisted reproductive technologies (ARTs) has been the subject of several reports. The transmission of imprinting errors from the sperm of infertile fathers is believed to be a possible ...
Li Tang +6 more
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DNA methyltransferase candidate polymorphisms, imprinting methylation, and birth outcome [PDF]
, 2013 Peer reviewedPublisher ...
Campbell, Doris M +3 more
core +6 more sources
Syndromic Disorders Caused by Disturbed Human Imprinting
JCRPE, 2020 Imprinting disorders are a group of congenital diseases caused by dysregulation of genomic imprinting, affecting prenatal and postnatal growth, neurocognitive development, metabolism and cancer predisposition.
Diana Carli +3 more
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Molecular testing for imprinting disorders [PDF]
Medizinische Genetik, 2020 AbstractImprinting disorders are a group of rare diseases with a broad phenotypic spectrum caused by a wide variety of genetic and epigenetic disturbances of imprinted genes or gene clusters. The molecular genetic causes and their respective frequencies vary between the different imprinting disorders so that each has its unique requirements for the ...
Beygo, Jasmin +3 more
openaire +2 more sources
What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis
BMC Medical Genetics, 2018 Background Pseudohypoparathyroidism (PHP) is a rare disease whose phenotypic features are rather difficult to identify in some cases. Thus, although these patients may present with the Albright’s hereditary osteodystrophy (AHO) phenotype, which is ...
Arrate Pereda +3 more
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Paternal obesity is associated with IGF2 hypomethylation in newborns: results from a Newborn Epigenetics Study (NEST) cohort [PDF]
, 2013 Data from epidemiological and animal model studies suggest that nutrition during pregnancy may affect the health status of subsequent generations. These transgenerational effects are now being explained by disruptions at the level of the epigenetic ...
A Kerjean +68 more
core +3 more sources
DNA methylation and DNA methyltransferases [PDF]
, 2017 The prevailing views as to the form, function, and regulation of genomic methylation patterns have their origin many years in the past, at a time when the structure of the mammalian genome was only dimly perceived, when the number of protein-encoding ...
Bestor, Timothy H +3 more
core +3 more sources
Imprinting disorders and assisted reproductive technology [PDF]
Current Opinion in Endocrinology, Diabetes & Obesity, 2010 To summarize current evidence in the association of imprinting disorders and assisted reproductive technology.The worldwide usage of assisted reproductive technology (ART) has continued to increase since the first successful birth of a human after IVF. Since 2002, several reports have raised concerns that children conceived by ART are at increased risk
Lawrence N, Odom, James, Segars
openaire +2 more sources
Birth seasonality studies in a large Prader-Willi syndrome cohort. [PDF]
, 2019 Prader-Willi syndrome (PWS) is generally due to sporadic paternal deletions of the chromosome 15q11-q13 region followed by maternal disomy 15. Advanced maternal age is more commonly seen in those with maternal disomy 15. Environmental factors (e.g., drug
Butler, Merlin G +6 more
core +1 more source