A maternal-effect Padi6 variant causes nuclear and cytoplasmic abnormalities in oocytes, as well as failure of epigenetic reprogramming and zygotic genome …
C Giaccari, F Cecere, L Argenziano… - Genes & …, 2024 - genesdev.cshlp.org
Maternal inactivation of genes encoding components of the subcortical maternal complex
(SCMC) and its associated member, PADI6, generally results in early embryo lethality. In …
(SCMC) and its associated member, PADI6, generally results in early embryo lethality. In …
ZIC2 and ZIC3 promote SWI/SNF recruitment to safeguard progression towards human primed pluripotency
The primed epiblast acts as a transitional stage between the relatively homogeneous naïve
epiblast and the gastrulating embryo. Its formation entails coordinated changes in regulatory …
epiblast and the gastrulating embryo. Its formation entails coordinated changes in regulatory …
Loss of DNA methylation disrupts syncytiotrophoblast development: Proposed consequences of aberrant germline gene activation
G Lea, CW Hanna - BioEssays, 2024 - Wiley Online Library
DNA methylation is a repressive epigenetic modification that is essential for development
and its disruption is widely implicated in disease. Yet, remarkably, ablation of DNA …
and its disruption is widely implicated in disease. Yet, remarkably, ablation of DNA …
Ancestral genome reconstruction enhances transposable element annotation by identifying degenerate integrants
Growing evidence indicates that transposable elements (TEs) play important roles in
evolution by providing genomes with coding and non-coding sequences. Identification of TE …
evolution by providing genomes with coding and non-coding sequences. Identification of TE …
Integrative genomic analyses identify neuroblastoma risk genes involved in neuronal differentiation
M Tirelli, F Bonfiglio, S Cantalupo, A Montella… - Human Genetics, 2024 - Springer
Abstract Genome-Wide Association Studies (GWAS) have been decisive in elucidating the
genetic predisposition of neuroblastoma (NB). The majority of genetic variants identified in …
genetic predisposition of neuroblastoma (NB). The majority of genetic variants identified in …
Longitudinal Genotype-Phenotype (Vineland Questionnaire) Characterization of 15 ADNP Syndrome Cases Highlights Mutated Protein Length and Structural …
J Levine, A Lobyntseva, S Shazman, F Hakim… - Journal of Molecular …, 2024 - Springer
Activity-dependent neuroprotective protein (ADNP) is essential for neurodevelopment and
de novo mutations in ADNP cause the ADNP syndrome. From brain pathologies point of …
de novo mutations in ADNP cause the ADNP syndrome. From brain pathologies point of …
Loss of DNA methylation disrupts syncytiotrophoblast development: Proposed molecular mechanisms
C Hanna, G Lea - 2024 - repository.cam.ac.uk
DNA methylation is a repressive epigenetic modification that is essential for development
and its disruption is widely implicated in disease. Yet, remarkably, ablation of DNA …
and its disruption is widely implicated in disease. Yet, remarkably, ablation of DNA …
A maternal-effect Padi6 variant results in abnormal nuclear localization of DNMT1 and failure of epigenetic reprogramming and zygotic genome activation in mouse …
PADI6 belongs to the multi-protein sub-cortical maternal complex (SCMC) that is present
specifically in mammalian oocytes and early embryos. Maternal inactivation of SCMC genes …
specifically in mammalian oocytes and early embryos. Maternal inactivation of SCMC genes …
KDM5C is a sex-biased brake against germline gene expression programs in somatic lineages
KM Bonefas, I Venkatachalam, S Iwase - bioRxiv, 2024 - biorxiv.org
The division of labor among cellular lineages is a pivotal step in the evolution of
multicellularity. In mammals, the soma-germline boundary is formed during early …
multicellularity. In mammals, the soma-germline boundary is formed during early …