Download full-text PDF

Source
http://dx.doi.org/10.1111/ijd.14335DOI Listing

Publication Analysis

Top Keywords

novel gnaq
4
gnaq mutationr183g
4
mutationr183g port-wine
4
port-wine stains
4
stains case
4
case east
4
east asia
4
novel
1
mutationr183g
1
port-wine
1

Similar Publications

One of the underlying mechanisms of epilepsy (EP), a brain disease characterized by recurrent seizures, is considered to be cell death. Disulfidptosis, a proposed novel cell death mechanism, is thought to play a part in the pathogenesis of epilepsy, but the exact role is unclear. The gene expression omnibus series (GSE) 33000 and GSE63808 datasets were used to search for differentially expressed disulfidptosis-related molecules (DE-DRMs).

View Article and Find Full Text PDF

Sturge-Weber syndrome: updates in translational neurology.

Front Neurol

December 2024

Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, United States.

Sturge-Weber syndrome (SWS) is a rare congenital neurovascular disorder that initially presents with a facial port-wine birthmark (PWB) and most commonly associated with a R183Q somatic mosaic mutation in the gene . This mutation is enriched in endothelial cells. Contrast-enhanced magnetic resonance imaging (MRI) diagnoses brain abnormalities including leptomeningeal vascular malformation, an enlarged choroid plexus, and abnormal cortical and subcortical blood vessels.

View Article and Find Full Text PDF
Article Synopsis
  • - The study analyzed 837 ewes from specific Iranian sheep breeds and one Greek breed to explore genetic factors related to prolificacy using OvineSNP50K arrays.
  • - Researchers applied statistical analyses to identify 19 genomic regions across various chromosomes that are under selection for prolificacy traits.
  • - Bioinformatic analysis indicated these regions contain candidate genes tied to prolificacy, milk yield, and body weight, suggesting opportunities for future research on genetic links to sheep prolificacy traits.
View Article and Find Full Text PDF

Ghrelin is a gut hormone that enhances food intake and growth hormone secretion through its G-protein coupled receptor, the growth hormone secretagogue receptor (GHSR). Recently, we have shown that ghrelin interacts with syndecans (SDCs), a family of membrane proteins known to modulate hypothalamic appetite signaling. Here, we investigated whether SDCs impact ghrelin signaling at GHSR by assessing ghrelin-induced intracellular Ca2+ mobilization (iCa2+) and inositol phosphate 1 (IP1) production in HEK293 cells.

View Article and Find Full Text PDF

Aims: To investigate the clinicopathological features and molecular characteristics of sporadic hypertrophic and nodular port-wine stains (PWS).

Methods: We analysed the clinicopathological and molecular characteristics of 27 sporadic hypertrophic and nodular PWS retrieved from our pathology database from 2013 to 2023 and reviewed the relevant literature.

Results: There were 13 men and 14 women who ranged in age from 10 to 66 years.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!