Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences

M Elbracht, D Mackay, M Begemann… - Human …, 2020 - academic.oup.com
BACKGROUND Human reproductive issues affecting fetal and maternal health are caused
by numerous exogenous and endogenous factors, of which the latter undoubtedly include …

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 …

Identifying regulators of parental imprinting by CRISPR/Cas9 screening in haploid human embryonic stem cells

S Bar, D Vershkov, G Keshet, E Lezmi, N Meller… - Nature …, 2021 - nature.com
In mammals, imprinted genes are regulated by differentially methylated regions (DMRs) that
are inherited from germ cells, leading to monoallelic expression in accordance with parent …

Further introduction of DNA methylation (DNAm) arrays in regular diagnostics

M Mannens, MP Lombardi, M Alders… - Frontiers in …, 2022 - frontiersin.org
Methylation tests have been used for decades in regular DNA diagnostics focusing primarily
on Imprinting disorders or specific loci annotated to specific disease associated gene …

DNA methylation in the diagnosis of monogenic diseases

F Cerrato, A Sparago, F Ariani, F Brugnoletti, L Calzari… - Genes, 2020 - mdpi.com
DNA methylation in the human genome is largely programmed and shaped by transcription
factor binding and interaction between DNA methyltransferases and histone marks during …

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

DJG Mackay, G Gazdagh, D Monk, F Brioude… - Clinical …, 2024 - Springer
Background Imprinting disorders are rare diseases resulting from altered expression of
imprinted genes, which exhibit parent-of-origin-specific expression patterns regulated …

The role of long non-coding rnas in human imprinting disorders: prospective therapeutic targets

T Wang, J Li, L Yang, M Wu, Q Ma - Frontiers in Cell and …, 2021 - frontiersin.org
Genomic imprinting is a term used for an intergenerational epigenetic inheritance and
involves a subset of genes expressed in a parent-of-origin-dependent way. Imprinted genes …

Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach

L Bilo, E Ochoa, S Lee, D Dey, I Kurth, F Kraft… - Clinical …, 2023 - Springer
Abstract Background Imprinting disorders (ImpDis) comprise diseases which are caused by
aberrant regulation of monoallelically and parent-of-origin-dependent expressed genes. A …

[PDF][PDF] Syndromic disorders caused by disturbed human imprinting

D Carli, E Riberi, GB Ferrero… - Journal of Clinical …, 2020 - jag.journalagent.com
Imprinting disorders are a group of congenital diseases caused by dysregulation of genomic
imprinting, affecting prenatal and postnatal growth, neurocognitive development …

The bright and dark side of DNA methylation: A matter of balance

M Borchiellini, S Ummarino, A Di Ruscio - Cells, 2019 - mdpi.com
DNA methylation controls several cellular processes, from early development to old age,
including biological responses to endogenous or exogenous stimuli contributing to disease …