A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016. [PDF]
Eur J Hum Genet, 2019 Yakoreva M +13 more
europepmc +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples. Methods We performed
Maria C. Vladoiu +7 more
wiley +1 more source
Transcriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disorders. [PDF]
Sci Adv, 2019 Abi Habib W +11 more
europepmc +1 more source
Pediatric Investigation, EarlyView.Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil +2 more
wiley +1 more source
Expanding the toolbox of ADHD genetics. How can we make sense of parent of origin effects in ADHD and related behavioral phenotypes? [PDF]
, 2015 core +1 more source
Nigericin‐Triggered Phosphodynamics in Inflammasome Formation and Pyroptosis
PROTEOMICS, EarlyView.ABSTRACT Innate immune signaling relies heavily on phosphorylation cascades to mount effective immune responses. Although traditional innate immune signaling cascades following TLR4 stimulation have been investigated through a temporally quantitative phosphoproteomic lens, far fewer studies have applied these methods to distinct signaling following the
Vanya Bhushan +5 more
wiley +1 more source
Molecular and Clinical Opposite Findings in 11p15.5 Associated Imprinting Disorders: Characterization of Basic Mechanisms to Improve Clinical Management. [PDF]
Int J Mol Sci, 2019 Wesseler K, Kraft F, Eggermann T.
europepmc +1 more source
Harnessing Natural Compounds in Psoriasis: Targeting Cellular Pathways for Effective Therapy
Phytotherapy Research, EarlyView.Natural compounds act on key cellular pathways in psoriasis by suppressing keratinocyte hyperproliferation, modulating Th17/IL‐17‐mediated immune responses, and reducing oxidative stress. These multi‐target effects highlight their potential as safer adjunctive therapies alongside conventional treatments.
Hye Jin Lee +9 more
wiley +1 more source
From 0D to 3D liquid crystal elastomers architectures: Fabrications and applications
Responsive Materials, EarlyView.This review presents a dimension‐oriented overview of liquid crystal elastomers (LCEs), highlighting their molecular alignment, fabrication strategies, and programmable deformations from 0D particles to 3D architectures. Emphasis is placed on how dimensionality guides design principles, enables diverse actuation modes, and bridges fundamental ...
Mingxuan Liu +8 more
wiley +1 more source