Results 111 to 120 of about 17,518 (240)

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

Biophysical Characterization and Proteomic Analysis of Small Extracellular Vesicles Derived From Different Neural Cell Lines

open access: yesAdvanced NanoBiomed Research, EarlyView.
This study systematically compares small extracellular vesicles (sEVs) derived from four neural cell lines, revealing how cellular origin shapes vesicle biophysical properties and proteomic cargo. Distinct, lineage‐specific signatures linked to neuronal, astrocytic, and microglial functions are identified, highlighting the importance of cell source ...
Muhammad Waqas Salim   +4 more
wiley   +1 more source

Imprinting disorders in Estonia

open access: yes, 2019
Congenital imprinting disorders (ImpDis) are a little-known group of rare hereditary diseases caused by changes in the expression of imprinted genes, mainly affecting growth, brain functions and the hormonal system. Although at least 100 imprinted genes have been found in the human genome, only 13 clinically recognizable ImpDis are currently known. The
openaire   +1 more source

A narrow bandgap Schottky heterojunction Fe2N/CeO2 microneedle triggering sonodynamic reactive oxygen species storm for drug‐resistance‐free skin fungal infection

open access: yesBMEMat, EarlyView.
Inorganic sonosensitizers suffer from inefficient electron‐hole separation, rapid recombination, and wide bandgaps in anti‐fungal applications. We propose MN@Fe2N/CeO2 to directly eliminate fungi without drug resistance. Combining semiconductor CeO2's advantages with Fe2N's high work function and activity enables efficient Schottky heterojunctions ...
Li Wang   +13 more
wiley   +1 more source

RNA‐centric world of retroviruses: unravelling the molecular strategies of genomic RNA packaging

open access: yesBiological Reviews, EarlyView.
ABSTRACT Retroviruses constitute a unique group of RNA viruses that have profoundly influenced both evolutionary trajectories and biomedical research. Their ability to reverse transcribe and integrate into host genomes has shaped genomic architecture across species and contributed to our understanding of oncogenes, gene regulation, and RNA biology ...
Mohammad Abdullah Jehad   +5 more
wiley   +1 more source

Epigenetics, Assisted Reproduction, and Intracytoplasmic Sperm Injection: A Review of the Current Data

open access: yesEuropean Medical Journal, 2019
Since the birth of the first in vitro fertilisation baby in 1978, >5 million babies have been born worldwide using assisted reproductive technologies (ART).
Delia Hutanu   +2 more
doaj  

H19 and IGF2 imprinting from embryogenesis to oncogenesis

open access: yesFrontiers in Cell and Developmental Biology
The imprinted H19/IGF2 locus is critical for fetal development and, when dysregulated, contributes to tumorigenesis. This review examines the mechanisms regulating imprinting through DNA methyltransferases, alongside shared signaling pathways, such as ...
Bella Ortega   +4 more
doaj   +1 more source

Rapid and Reusable Amino Acid–Derived MOFs for the Removal of Estrogenic Hormones From Real Water Matrices

open access: yesChemistry – A European Journal, EarlyView.
A family of amino‐acid–derived MOFs enables ultrafast (>90–95% in 30 s) simultaneous removal of four estrogenic contaminants from water under SPE conditions. A leucine‐based MOF shows excellent regenerability and robustness in real samples, with structural evidence revealing efficient hormone encapsulation.
Lidia García   +7 more
wiley   +1 more source

Energy Landscapes in Chemical Reactions and Transport

open access: yesChemPhysChem, Volume 26, Issue 6, March 15, 2025.
Kinetics/dynamics of chemical reactivity and transport of chemical species in a solid are both determined by the energy landscape in which they take place. Discussing common grounds but also distinct differences may help in advancing the understanding in both fields.
Karl‐Michael Weitzel
wiley   +1 more source

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