Genetic Syndromes and Imprinting

The paper identifies lineage-specific genomic imprinting in the ZNF791 locus in domesticated animals through whole-genome sequencing and comparative analysis across mammals.

This study evaluates whole-genome long-read sequencing for diagnosing Prader-Willi and Angelman syndromes, showing high accuracy in detecting genetic variants and methylation differences.

This study shows that Nlrp5-null oocytes have reduced DNMT3L and impaired de novo methylation, leading to imprinting disorders and developmental issues.

This study identifies atypical alpha peak frequency (PAF) in EEGs of children with Angelman syndrome, showing reduced detection rates and lower frequencies compared to typically developing controls.

The paper identifies a gene regulatory network controlled by SNORD116 snoRNAs and predicts their targets in Prader-Willi syndrome using isogenic cell lines and computational analysis.

The paper develops isogenic human embryonic stem cell lines modeling Angelman and Prader-Willi syndromes to study allele-specific gene regulation and therapeutic approaches.

This study shows that restoring UBE3A expression in a mouse model of Angelman Syndrome improves behavior and proteome, supporting UBE3A reinstatement as a therapeutic strategy.

This study creates a novel mouse model with deletion of Necdin and Magel2 genes, revealing functional interactions and phenotypes relevant to Prader-Willi Syndrome.

The paper integrates CTCF loops, methylome, and transcriptome data from LUHMES neurons to study imprinting dynamics at the 15q11-q13 locus during differentiation.

The paper develops a custom Infinium DNA methylation array for the human imprintome and validates its performance against WGBS and EPIC arrays.

The paper identifies SOBS and CTS3 as the sequences responsible for maternal H19-ICR hypermethylation causing BWS-like overgrowth in mice.

This study investigates the effects of chemically induced transposon mobilization on genomic imprinting in Arabidopsis endosperm, showing preferential targeting of maternally expressed genes and transcriptional deregulation.

This study shows Grb10 regulates fetal growth independently of Igf1r and Insr, with some organ-specific interactions, particularly in the liver.

The paper shows that loss of EED in mouse oocytes initially restricts fetal growth but later leads to placental hyperplasia and offspring overgrowth.

This paper reviews contradictions in nc886/VTRNA2-1 methylation and RNA function, reanalyzes existing data, and presents new findings on population geography and tumor methylation patterns.

This study investigates the functional effects of noncanonical genomic imprinting of Ddc and Th on social behaviors in mice, finding specific impacts on aggression, social recognition, and sociability preferences.

The paper analyzes genomic imprinting changes during reprogramming of adult neural stem cells into iPSCs, identifying transcriptome and methylation alterations linked to pluripotency and epigenetic quality.

The paper develops a methyl-seq tool to identify genomic imprinted loci by detecting parent-of-origin methylation in 165 candidate regions.

This study identifies molecular subgroups and epigenetic alterations in Beckwith-Wiedemann Syndrome and large offspring syndrome across methylome, transcriptome, and chromatin architecture.

The paper examines genomic imprinting and X-chromosome inactivation stability in aging mouse brains, finding they remain largely stable despite epigenetic drift.

The paper investigates allele-specific enhancer-promoter interactions in an imprinted domain during mouse neural commitment, finding that biallelic interactions occur but only maternal ones are productive.

The paper investigates parent-of-origin effects on seed size in Arabidopsis hybrids, finding that imprinting, not cytonuclear interactions, significantly influences seed size through imprinted genes involved in cell wall modification.

This study shows that Dlk1 dosage in the pituitary gland affects stem cell commitment and long-term pituitary size.

The paper analyzes scRNA-seq data from multiple mouse tissues to show imprinted genes are enriched in stem and endocrine cell types.

The paper investigates how allelic chromatin structure at the Peg13-Kcnk9 locus influences imprinted gene expression during neurogenesis in mice.

The paper investigates epigenetic reprogramming of imprinting during meiosis in the bryophyte Marchantia polymorpha, showing that imprinting is erased during meiosis and re-established in meiotic spores.

This study shows that Igf2 imprinting in mouse placental endocrine cells is critical for fetal manipulation of maternal metabolism, leading to nutrient allocation and offspring metabolic health outcomes.

The paper identifies Magel2 as an imprinted gene critical for parenting behavior by linking its expression in galanin neurons to behavioral deficits in null mice.

This paper describes the development of an antisense oligonucleotide (ASO) therapy targeting the UBE3A-AS transcript to reactivate paternal UBE3A expression in Angelman syndrome models.