A substantial number of deleterious variants involved glycine substitutions, which are likely to affect protein flexibility, folding, and intermolecular interactions, potentially impairing the structural integrity of the glomerular basement membrane.
Established genomic and population-level evidence support a Likely Pathogenic, loss-of-function classification for the TTN p.Arg3936Ter variant, which introduces a premature termination codon predicted to generate a truncated titin protein of 3,935 amino acids and is predicted to escape nonsense-mediated decay.
Lydier De Gracia, O. Espinosa, L. Sotillo et al.· Gene Clin Genom· 0 citations
Dynamical Topology Optimization (DTO) provides a framework for optimizing complex network topologies by iteratively refining connections based on emergent properties. This paper introduces a novel algorithm, termed 'Adaptive Topology Evolution', which integrates reinforcement learning and graph theory to achieve automa...
Jincheng Zhang· Zenodo (CERN European Organi...· 0 citations
Motivation: Convergent evolution produces enzymes with different folds but identical catalytic mechanisms, yet no method reliably detects shared catalytic sites across non-homologous proteins. Dedicated catalytic site tools achieve recall below 4%, and general-purpose aligners sacrifice local catalytic geometry for glo...
Nicholas Harkiolakis· Zenodo (CERN European Organi...· 0 citations
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Motivation: Convergent evolution produces enzymes with different folds but identical catalytic mechanisms, yet no method reliably detects shared catalytic sites across non-homologous proteins. Dedicated catalytic site tools achieve recall below 4%, and general-purpose aligners sacrifice local catalytic geometry for glo...
Nicholas Harkiolakis· Zenodo (CERN European Organi...· 0 citations
The immunomodulatory effect of E. menziesii safely regulates macrophage behavior, IL-1β and IL-6 release and promotes scratch area reduction and could be linked to the presence of sulfate polysaccharides and mannitol.
Omar Arroyo-Xochihua, A. Sánchez-Medina, Ó. López-Franco et al.· Molecular Biology Reports· 0 citations
ESMCHalo is a frozen protein-sequence predictor that combines ESMC-600M layer-36 canonical mean representations with five compact student heads trained using leakage-free out-of-fold knowledge distillation. The release provides frozen inference code, model checkpoints, calibration, a fixed threshold, verification utili...
Fang Lv, Hutao Jin, Qishuai Ma et al.· Zenodo (CERN European Organi...· 0 citations
[Post-submission revision] - 2026-09 Following a desk rejection from JBSD (concerns: depth of analysis, novelty, rationale clarity), the following additional analyses and fixes were made. Fixed Protein topology (Leu289 truncation): topology/topol_Protein_chain_A.itp was found to be missing 11 atoms (CD1/CD2 side chain...
Mahdieh Rojhan Genetics· Zenodo (CERN European Organi...· 0 citations
Preconditioning the skin with non-ablative laser energy represents a promising strategy to enhance tissue repair, yet its biological mechanisms remain incompletely defined. This study investigated whether pre-injury stimulation using a 755-nm picosecond Alexandrite laser (PSAL) equipped with a diffractive lens array (D...
Da-Sol Kim, Hyunjin Kim, Byunghyuk Lee et al.· Scientific Reports· 0 citations
[Post-submission revision] - 2026-09 Following a desk rejection from JBSD (concerns: depth of analysis, novelty, rationale clarity), the following additional analyses and fixes were made. Fixed Protein topology (Leu289 truncation): topology/topol_Protein_chain_A.itp was found to be missing 11 atoms (CD1/CD2 side chain...
Mahdieh Rojhan Genetics· Zenodo (CERN European Organi...· 0 citations
An investigation into the structural, electronic and reactive properties of a substituted piperidine scaffold were conducted using density functional theory (DFT) at the B3LYP/6-31 G(d) level of theory. Molecular geometry optimization established a stable equilibrium structure. Frontier molecular orbital (FMO) analysis...
G. Baskar, J. Veeramalini, J. Jebaraj· Asian Journal of Chemistry· 0 citations
ESMCHalo is a frozen protein-sequence predictor that combines ESMC-600M layer-36 canonical mean representations with five compact student heads trained using leakage-free out-of-fold knowledge distillation. The release provides frozen inference code, model checkpoints, calibration, a fixed threshold, verification utili...
Fang Lv, Hutao Jin, Qishuai Ma et al.· Zenodo (CERN European Organi...· 0 citations
A new machine-learning framework aims to improve the success rate of computational protein design while moving away from results that reproduce sequences found in nature.