Update of the sideroflexin (SLC56) gene family
Hum Genomics. 2025 Jun 20;19(1):69. doi: 10.1186/s40246-025-00779-w. ABSTRACT The human sideroflexin (SFXN) gene family, also classified as solute carrier family 56 (SLC56), encodes a group …
Month: June 2025
Loop Catalog: a comprehensive HiChIP database of human and mouse samples
Genome Biol. 2025 Jun 20;26(1):175. doi: 10.1186/s13059-025-03615-5. ABSTRACT HiChIP enables cost-effective and high-resolution profiling of chromatin loops. To leverage the increasing number of HiChIP datasets, …
Prevalence of vascular complications in Ehlers-Danlos syndrome: a systematic review and meta-analysis
Orphanet J Rare Dis. 2025 Jun 20;20(1):312. doi: 10.1186/s13023-025-03854-6. ABSTRACT BACKGROUND: Ehlers-Danlos Syndrome (EDS) comprises connective tissue disorders associated with increased vascular complication risks. This …
Tocilizumab in improving the hemodynamics of septic children with vasoplegia shock
Crit Care. 2025 Jun 20;29(1):256. doi: 10.1186/s13054-025-05512-6. NO ABSTRACT PMID:40542419 | DOI:10.1186/s13054-025-05512-6
Intubating laryngeal airway vs. direct laryngoscope: a crossover randomized controlled neonatal manikin trial
Ital J Pediatr. 2025 Jun 20;51(1):196. doi: 10.1186/s13052-025-01988-8. ABSTRACT BACKGROUND: We aimed to compare endotracheal intubation through a laryngeal mask vs. using a direct laryngoscope …
Comparison of spatial transcriptomics technologies using tumor cryosections
Genome Biol. 2025 Jun 20;26(1):176. doi: 10.1186/s13059-025-03624-4. ABSTRACT BACKGROUND: Spatial transcriptomics technologies are revolutionizing our understanding of intra-tumor heterogeneity and the tumor microenvironment by revealing …
Identifying kinematic biomarkers of the dystrophic phenotype in a zebrafish model of Duchenne muscular dystrophy
Skelet Muscle. 2025 Jun 20;15(1):17. doi: 10.1186/s13395-025-00382-6. ABSTRACT BACKGROUND: Dystrophin-deficient zebrafish larvae are a small, genetically tractable vertebrate model of Duchenne muscular dystrophy that is …
Clinical and functional characterization of the GABRB3 p.Met80Val variant in early-onset epilepsy with long-term follow-up
Ital J Pediatr. 2025 Jun 20;51(1):195. doi: 10.1186/s13052-025-02046-z. ABSTRACT BACKGROUND: GABRB3 encodes the β3 subunit of the GABAA receptor, which is a crucial component in …
Quantification of liver fat fraction using T1-weighted mDixon MRI in young patients with ataxia telangiectasia undergoing whole-body MRI: an exploratory study
Orphanet J Rare Dis. 2025 Jun 21;20(1):316. doi: 10.1186/s13023-025-03786-1. ABSTRACT BACKGROUND: Ataxia-telangiectasia (A-T) is an inherited multiorgan disorder with onset in childhood. Liver involvement, with …
Integration of a brief, transdiagnostic psychological intervention in the care of adolescents and young adults with HIV in Kenya: Protocol for a cluster randomized clinical trial
PLoS One. 2025 Jun 20;20(6):e0325374. doi: 10.1371/journal.pone.0325374. eCollection 2025. ABSTRACT Adolescents and young adults with HIV (AYH) are at greater risk for mental health conditions. …