Genomic imprinting disorders: lessons on how genome, epigenome and environment interact
Genomic imprinting, the monoallelic and parent-of-origin-dependent expression of a subset
of genes, is required for normal development, and its disruption leads to human disease …
of genes, is required for normal development, and its disruption leads to human disease …
Hydatidiform moles: genetic basis and precision diagnosis
Hydatidiform moles are intriguing pathologic entities representing abnormal placental villous
tissue with unique genetic profiles and a wide spectrum of morphologic features, which …
tissue with unique genetic profiles and a wide spectrum of morphologic features, which …
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring
M Begemann, FI Rezwan, J Beygo… - Journal of Medical …, 2018 - jmg.bmj.com
Background Genomic imprinting results from the resistance of germline epigenetic marks to
reprogramming in the early embryo for a small number of mammalian genes. Genetic …
reprogramming in the early embryo for a small number of mammalian genes. Genetic …
NLRP7: From inflammasome regulation to human disease
J Carriere, A Dorfleutner, C Stehlik - Immunology, 2021 - Wiley Online Library
Nucleotide‐binding oligomerization domain (NOD) and leucine‐rich repeat (LRR)‐
containing receptors or NOD‐like receptors (NLRs) are cytosolic pattern recognition …
containing receptors or NOD‐like receptors (NLRs) are cytosolic pattern recognition …
Recent advances in imprinting disorders
L Soellner, M Begemann, DJG Mackay… - Clinical …, 2017 - Wiley Online Library
Imprinting disorders (ImpDis) are a group of currently 12 congenital diseases with common
underlying (epi) genetic etiologies and overlapping clinical features affecting growth …
underlying (epi) genetic etiologies and overlapping clinical features affecting growth …
Genetics of gestational trophoblastic disease
RA Fisher, GJ Maher - Best Practice & Research Clinical Obstetrics & …, 2021 - Elsevier
The abnormal pregnancies complete and partial hydatidiform mole are genetically unusual,
being associated with two copies of the paternal genome. Typical complete hydatidiform …
being associated with two copies of the paternal genome. Typical complete hydatidiform …
DNA methylation dynamics in the female germline and maternal-effect mutations that disrupt genomic imprinting
Genomic imprinting is an epigenetic marking process that results in the monoallelic
expression of a subset of genes. Many of these 'imprinted'genes in mice and humans are …
expression of a subset of genes. Many of these 'imprinted'genes in mice and humans are …
Allele-specific methylome and transcriptome analysis reveals widespread imprinting in the human placenta
H Hamada, H Okae, H Toh, H Chiba, H Hiura… - The American Journal of …, 2016 - cell.com
DNA methylation is globally reprogrammed after fertilization, and as a result, the parental
genomes have similar DNA-methylation profiles after implantation except at the germline …
genomes have similar DNA-methylation profiles after implantation except at the germline …
LTR retrotransposons transcribed in oocytes drive species-specific and heritable changes in DNA methylation
J Brind'Amour, H Kobayashi, J Richard Albert… - Nature …, 2018 - nature.com
De novo DNA methylation (DNAme) during mouse oogenesis occurs within transcribed
regions enriched for H3K36me3. As many oocyte transcripts originate in long terminal …
regions enriched for H3K36me3. As many oocyte transcripts originate in long terminal …
Maternal effect genes: Update and review of evidence for a link with birth defects
LE Mitchell - Human Genetics and Genomics Advances, 2022 - cell.com
Maternal effect genes (MEGs) encode factors (eg, RNA) that are present in the oocyte and
required for early embryonic development. Hence, while these genes and gene products are …
required for early embryonic development. Hence, while these genes and gene products are …