IGF2: Development, Genetic and Epigenetic Abnormalities

C Sélénou, F Brioude, E Giabicani, ML Sobrier… - Cells, 2022 - mdpi.com
In the 30 years since the first report of parental imprinting in insulin-like growth factor 2 (Igf2)
knockout mouse models, we have learnt much about the structure of this protein, its role and …

Clinical and molecular diagnosis of Beckwith-Wiedemann syndrome with single-or multi-locus imprinting disturbance

L Fontana, S Tabano, S Maitz, P Colapietro… - International journal of …, 2021 - mdpi.com
Beckwith-Wiedemann syndrome (BWS) is a clinically and genetically heterogeneous
overgrowth disease. BWS is caused by (epi) genetic defects at the 11p15 chromosomal …

Widespread allele-specific topological domains in the human genome are not confined to imprinted gene clusters

S Richer, Y Tian, S Schoenfelder, L Hurst, A Murrell… - Genome Biology, 2023 - Springer
Background There is widespread interest in the three-dimensional chromatin conformation
of the genome and its impact on gene expression. However, these studies frequently do not …

Exploring chromatin structural roles of non-coding RNAs at imprinted domains

D Llères, Y Imaizumi, R Feil - Biochemical Society Transactions, 2021 - portlandpress.com
Different classes of non-coding RNA (ncRNA) influence the organization of chromatin.
Imprinted gene domains constitute a paradigm for exploring functional long ncRNAs …

Spontaneous and ART-induced large offspring syndrome: similarities and differences in DNA methylome

Y Li, J Sena Lopes, P Coy-Fuster, RM Rivera - Epigenetics, 2022 - Taylor & Francis
Large/abnormal offspring syndrome (LOS/AOS) is a congenital overgrowth syndrome
reported in ruminants produced by assisted reproduction (ART-LOS) which exhibit global …

The role of CTCF in the organization of the centromeric 11p15 imprinted domain interactome

NSS Naveh, DF Deegan, J Huhn, E Traxler… - Nucleic acids …, 2021 - academic.oup.com
DNA methylation, chromatin-binding proteins, and DNA looping are common components
regulating genomic imprinting which leads to parent-specific monoallelic gene expression …

iSMOD: an integrative browser for image-based single-cell multi-omics data

W Zhang, J Suo, Y Yan, R Yang, Y Lu… - Nucleic Acids …, 2023 - academic.oup.com
Genomic and transcriptomic image data, represented by DNA and RNA fluorescence in situ
hybridization (FISH), respectively, together with proteomic data, particularly that related to …

Extensive placental methylation profiling in normal pregnancies

O Rondinone, A Murgia, J Costanza, S Tabano… - International Journal of …, 2021 - mdpi.com
The placental methylation pattern is crucial for the regulation of genes involved in
trophoblast invasion and placental development, both key events for fetal growth. We …

Identification of IGF2 as Genomic Driver and Actionable Therapeutic Target in Hepatoblastoma

J Abril-Fornaguera, L Torrens, C Andreu-Oller… - Molecular cancer …, 2023 - AACR
Management of hepatoblastoma (HB), the most frequent pediatric liver cancer, is based on
surgical resection and perioperative chemotherapy regimens. In this study, we aimed to …

Dysfunction in IGF2R Pathway and Associated Perturbations in Autophagy and WNT Processes in Beckwith–Wiedemann Syndrome Cell Lines

S Pileggi, EA Colombo, S Ancona, R Quadri… - International Journal of …, 2024 - mdpi.com
Beckwith–Wiedemann Syndrome (BWS) is an imprinting disorder characterized by
overgrowth, stemming from various genetic and epigenetic changes. This study delves into …