Evolution‐guided yeast complementation reveals functional differences in human PSPH variants
Ancient genomes can help guide which human genetic variants are tested experimentally. This study applies that idea to PSPH, a gene involved in serine biosynthesis, and uses high‐throughput yeast complementation to compare variant function. The findings reveal measurable differences among selected alleles and illustrate the value of evolution‐guided ...
Mauricio Campa‐Álvarez +6 more
wiley +1 more source
Familial Tooth Agenesis in Lebanese Patients: Clinical Characterization and Whole-Exome Identification of Rare CACNA2D2 and TRIO Variants. [PDF]
Nabbout F +3 more
europepmc +1 more source
We report the first β‐glucosidase with demonstrated hydrolytic activity on an N‐linked glycopyranoside. The enzyme, native to maize, was biochemically characterised for this novel reaction, and structural modelling of the enzyme–substrate complex revealed several clues to the underlying reduced catalytic rate relative to its native O‐glycopyranoside ...
Hani Gharabli +3 more
wiley +1 more source
Multi-level mental health-related stigma interventions in healthcare systems through the involvement of people with lived experiences: Mixed-methods pilot findings from international study of discrimination and stigma outcomes (INDIGO) study in Nepal. [PDF]
Subedi B +11 more
europepmc +1 more source
Biophysical characterisation shows that NanX, a membrane transport protein from the major facilitator superfamily (MFS), forms both monomers and dimers after purification. AlphaFold modelling and substrate docking provide information on residues likely involved in substrate recognition for NanX and another MFS member, NanT.
Michael C. Newton‐Vesty +13 more
wiley +1 more source
Indirect participant recruitment and representativeness in healthcare workforce research: lessons from a comparative study of the SCOHPICA cohort. [PDF]
Hennard A +7 more
europepmc +1 more source
Dual native G‐quadruplex folding is associated with chromatin looping at the MYC locus
BG4‐detectable G‐quadruplex (G4) in HaCaT and NHEK keratinocytes identified folded and unfolded G4s enriched at promoters/TSSs and active enhancers, whereas unfolded G4s also overlapped weak/poised enhancers. At MYC–PVT1, 3C‐qPCR detected enhancer–promoter looping only when G4s were simultaneously folded at both regulatory elements under native ...
Dieila Giomo de Lima +7 more
wiley +1 more source
Soliton solutions for the nonlinear Zoomeron equation applying the modified Khater method. [PDF]
Saleem A +5 more
europepmc +1 more source
Research is strongest when conducted alongside patients, not just about them. Patient research organizations help integrate patient perspectives into research priorities, study design, and scientific meetings, leading to meaningful patient outcomes and development of relevant therapies.
Jenica H. Kakadia +9 more
wiley +1 more source
Evaluation of nursing performance during coronary artery bypass grafting surgeries using machine learning analysis of surgical videos: a multicenter retrospective study. [PDF]
Tang Q +5 more
europepmc +1 more source

