A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders. [PDF]
J Inherit Metab DisMcCarron EP +7 more
europepmc +1 more source
Advanced Science, EarlyView.By integrating 516 whole‐genome resequencing datasets and 236 transcriptomes of allotetraploid common carp, this study establishes the first population‐scale atlas of transposable element (TE) variation in teleost species. TE bursts, relaxed purifying selection, and lineage‐specific loss of ancient insertions shape genome evolution and phenotypic ...
Shuimu Hu +11 more
wiley +1 more source
A nonpigmented retinal pigment epithelium adenoma with retinitis pigmentosa:A case report. [PDF]
Am J Ophthalmol Case RepZhu X, Zhu Y, Yang X, Liu H.
europepmc +1 more source
A Gut‐Brain Axis Underlying Succinate‐Associated Compulsive‐Like Behavior
Advanced Science, EarlyView.Gut‐derived succinate is associated with an excitatory‐inhibitory imbalance in dmPFC glutamatergic neurons, involving microglial SUCNR1 activation and vagal afferent signaling via upregulated gut 5‐HT4 receptors along the DVC‐CeA‐dmPFC circuit, changes that are linked to excessive compulsive‐like behavior.
Yi Li +12 more
wiley +1 more source
A Case Series of Familial Macular Drusen: Clinical, Imaging, and Diagnostic Considerations in the Spectrum Between Age-Related Macular Degeneration (AMD) and Other Macular Disorders. [PDF]
CureusFaustine G, Bastion MC.
europepmc +1 more source
Advanced Science, EarlyView.Bilateral temporal accelerated 40‐Hz tACS improves cognitive function in patients with Alzheimer's disease. Resting‐state fNIRS identifies treatment‐related increases in frontotemporoparietal functional connectivity, which are associated with cognitive improvement. ABSTRACT The temporal lobes are key hubs for memory and cognition.
Rong Guo +10 more
wiley +1 more source
A Facial Foundation Model for Clinical Biomarker Prediction and Real‐World Mobile Deployment
Advanced Science, EarlyView.MedicalFaceFound is a facial foundation model developed through three‐stage progressive pre‐training, adapting representations from general vision to facial structure and clinical phenotypes. Using a single facial image, it estimates 62 biomarkers across multiple physiological systems and supports downstream risk prediction for cardiovascular ...
Tingfeng Xu +15 more
wiley +1 more source
Molecular Diagnostic Yield and Genotype-Phenotype Spectrum of Inherited Eye Diseases in a Tertiary Health Center in Türkiye. [PDF]
Beyoglu Eye JÇevik MÖ.
europepmc +1 more source
Retrospective Grid Cells in the Medial Entorhinal Cortex Encode Past Paths During Spatial Navigation
Advanced Science, EarlyView.Retrospective grid cells are identified in the medial entorhinal cortex, with spatial firing patterns that become most grid‐like when activity is projected onto recently traversed locations. Their coding loses spatial precision in darkness and is disrupted during assisted movement, indicating that entorhinal representations incorporate recent path ...
Ruojin Liu +10 more
wiley +1 more source
When LHON Mimics Demyelination: Area Postrema Syndrome in Biallelic <i>DNAJC30</i> Variants. [PDF]
J Clin MedDzwilewski K +5 more
europepmc +1 more source