PubMed · 14437726
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C ROB, J R KENYON. 1960-05-07. Dissecting aneurysms.. https://doi.org/10.1136/bmj.1.5183.1384
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Claudin-14 (CLDN14) is a key component of tight junctions (TJs) critical for maintaining paracellular barrier function. Variants of CLDN14 have been linked to Vein of Galen malformations (VOGMs), a rare cerebrovascular disorder; however, the molecular mechanisms underlying their pathogenicity remain unknown. Here, we investigate the mechanistic effects of two VOGM-associated mutations, A113P and V143M, using reinforcement-learning driven enhanced sampling molecular dynamics simulations combined with DiffNets-based deep learning and independent trajectory-wide structural analyses. Our analysis reveals that A113P induces broader structural disruption of CLDN14, perturbing paracellular sealing, pore symmetry, and inter-protomer communication, whereas V143M induces structural rearrangements centred around TM3 and the TM3-ECL2 region. In both cases, mutation-specific alterations are observed in structural stability and interfacial organization across oligomeric assemblies. Notably, these effects are qualitatively consistent across different modelled architectures, despite variability in local responses. In the absence of experimentally resolved structures, the structural perturbations reported here provide a mechanistic understanding of how VOGM-associated variants may influence CLDN14 structure and dynamics.
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INTRODUCTION: Only two previous reports of agenesis of the internal carotid artery with a coexistent Horner's syndrome are to be found in the medical literature. CASE REPORT: We report a case of a male child seen initially for what was presumed to be a traumatic superficial temporal artery aneurysm. MRA incidentally revealed ipsilateral agenesis of the internal carotid artery. This child's physical exam included ipsilateral Horner's syndrome. CONCLUSION: This case report illustrates that agenesis of the internal carotid artery does indeed cause Horner's syndrome in some cases. The clinician who diagnoses a patient with Horner's syndrome should remember that agenesis of the internal carotid artery may be the cause as this entity can be associated in itself with other pathologies of the central nervous system.