Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement …
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …
characterized by phenotypic variability that might include overgrowth, macroglossia …
[HTML][HTML] Oxidative stress and assisted reproduction: a comprehensive review of its pathophysiological role and strategies for optimizing embryo culture environment
A Agarwal, I Maldonado Rosas, C Anagnostopoulou… - Antioxidants, 2022 - mdpi.com
Oxidative stress (OS) due to an imbalance between reactive oxygen species (ROS) and
antioxidants has been established as an important factor that can negatively affect the …
antioxidants has been established as an important factor that can negatively affect the …
Child health, developmental plasticity, and epigenetic programming
Plasticity in developmental programming has evolved in order to provide the best chances of
survival and reproductive success to the organism under changing environments …
survival and reproductive success to the organism under changing environments …
The H19 locus: Role of an imprinted non‐coding RNA in growth and development
A Gabory, H Jammes, L Dandolo - Bioessays, 2010 - Wiley Online Library
The H19 gene produces a non‐coding RNA, which is abundantly expressed during
embryonic development and down‐regulated after birth. Although this gene was discovered …
embryonic development and down‐regulated after birth. Although this gene was discovered …
[HTML][HTML] Beckwith–wiedemann syndrome
R Weksberg, C Shuman, JB Beckwith - European journal of human …, 2010 - nature.com
Beckwith–Wiedemann syndrome (BWS) is a model disorder for the study of imprinting,
growth dysregulation, and tumorigenesis. Unique observations in this disorder point to an …
growth dysregulation, and tumorigenesis. Unique observations in this disorder point to an …
[HTML][HTML] Association of four imprinting disorders and ART
H Hattori, H Hiura, A Kitamura, N Miyauchi… - Clinical …, 2019 - Springer
Background Human-assisted reproductive technologies (ART) are a widely accepted
treatment for infertile couples. At the same time, many studies have suggested the …
treatment for infertile couples. At the same time, many studies have suggested the …
Influence of environmental exposure on human epigenetic regulation
CJ Marsit - Journal of Experimental Biology, 2015 - journals.biologists.com
Environmental toxicants can alter epigenetic regulatory features such as DNA methylation
and microRNA expression. As the sensitivity of epigenomic regulatory features may be …
and microRNA expression. As the sensitivity of epigenomic regulatory features may be …
Beckwith–Wiedemann syndrome
S Choufani, C Shuman… - American Journal of …, 2010 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder characterized by
overgrowth, tumor predisposition, and congenital malformations. Approximately 85% of …
overgrowth, tumor predisposition, and congenital malformations. Approximately 85% of …
Role of DNA methylation in imprinting disorders: an updated review
AR Elhamamsy - Journal of Assisted Reproduction and Genetics, 2017 - Springer
Genomic imprinting is a complex epigenetic process that contributes substantially to
embryogenesis, reproduction, and gametogenesis. Only small fraction of genes within the …
embryogenesis, reproduction, and gametogenesis. Only small fraction of genes within the …
GNAS Spectrum of Disorders
S Turan, M Bastepe - Current osteoporosis reports, 2015 - Springer
The GNAS complex locus encodes the alpha-subunit of the stimulatory G protein (Gsα), a
ubiquitous signaling protein mediating the actions of many hormones, neurotransmitters …
ubiquitous signaling protein mediating the actions of many hormones, neurotransmitters …