A Novel LMX1A Frameshift Variant Underlies Familial Phenotypic Heterogeneity in DFNA7
Hum Mutat. 2026 May 30;2026:9930672. doi: 10.1155/humu/9930672. eCollection 2026. ABSTRACT Pathogenic variants in the LIM-homeodomain transcription factor LMX1A represent a rare yet critical etiology for autosomal dominant nonsyndromic hearing loss 7 (DFNA7) and less frequently, its autosomal recessive counterpart (ARNSHL). Here, we describe a novel heterozygous frameshift variant, LMX1A c.405delT (p.Phe135LeufsTer3), identified in a three-generation […]
MicroRNA-SIRT1 crosstalk in liver diseases: molecular regulation of metabolism, inflammation, and cell survival
Mol Biol Rep. 2026 Jun 6;53(1):899. doi: 10.1007/s11033-026-12062-9. ABSTRACT MicroRNAs (miRNAs) and the NAD+-dependent deacetylase SIRT1 are critical regulators of hepatic metabolism, inflammation, and stress responses. Growing evidence suggests that miRNA-SIRT1 interactions are frequently disrupted during the pathogenesis of liver diseases, including Metabolism-Associated Steatotic Liver Disease (MASLD), Alcohol-Associated Liver Disease, Drug-Induced Liver Injury (DILI), fibrosis, […]
Spotlight on cGAS-STING: role in disease pathogenesis and therapeutic potential
Mol Biomed. 2026 Jun 5;7(1):83. doi: 10.1186/s43556-026-00478-5. ABSTRACT The cyclic GMP-AMP synthase (cGAS)-stimulator of interferon genes (STING) signaling pathway represents a cornerstone of innate immunity, functioning as the primary cytosolic DNA sensor in mammalian cells. Upon detecting pathogenic DNA or mislocalized self-DNA (such as leaked mitochondrial or micronuclear DNA), cGAS synthesizes the second messenger cGAMP, […]
The Efficacy of Nicotinamide in Maintaining Mean Deviation in Glaucoma: A Systematic Review
Cureus. 2026 Jun 3;18(6):e110196. doi: 10.7759/cureus.110196. eCollection 2026 Jun. ABSTRACT Glaucoma is a major cause of blindness worldwide and is characterized by progressive retinal ganglion cell loss and visual field deterioration. Although intraocular pressure reduction remains the cornerstone of management, disease progression may occur despite optimal treatment. Nicotinamide, a precursor to nicotinamide adenine dinucleotide, has […]
A case report of atypical optic neuritis
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2026 Feb 28;51(2):350-358. doi: 10.11817/j.issn.1672-7347.2026.240683. ABSTRACT Optic neuritis is a severe blinding ocular disease, and identifying its etiology is crucial for selecting appropriate treatment strategies and evaluating patient prognosis. This paper reports the clinical data of a patient initially presenting with unilateral visual decline who was […]
In vitro assessment of cetalkonium chloride induced damage in human corneal keratocytes
Toxicol In Vitro. 2026 Jun 3:106266. doi: 10.1016/j.tiv.2026.106266. Online ahead of print. ABSTRACT This study aimed to conduct an in vitro assessment of the concentration- and time-dependent cytotoxic effects of cetalkonium chloride (CKC), a preservative used in ophthalmic preparations, on human corneal keratocytes and to investigate its underlying cellular mechanisms of toxicity. Primary human corneal […]
Mitochondrial C3aR and endoplasmic reticulum C5aR orchestrate calcium imbalance during oxidative stress in retinal pigment epithelial cells
Mitochondrion. 2026 Jun 3:102172. doi: 10.1016/j.mito.2026.102172. Online ahead of print. ABSTRACT Although C3a and C5a are classically recognized as extracellular anaphylatoxins, we previously identified mitochondrial C3a receptors (mt-C3aR) in stressed RPE cells, where its activation enhanced Ca2+ uptake and inhibited oxidative phosphorylation (OXPHOS). Here, we demonstrate a second intracellular anaphylatoxin receptor, C5aR, localized to the […]
Integrative omics identify NID2 as a therapeutic target linking depression and colorectal cancer in humans
iScience. 2026 May 26;29(6):116003. doi: 10.1016/j.isci.2026.116003. eCollection 2026 Jun 19. ABSTRACT Depression is frequently comorbid with gastrointestinal malignancies, yet the biological links governing this relationship require precise characterization. Analysis of a prospective colonoscopy cohort (n = 2,857) and National Health and Nutrition Examination Survey data (n = 37,597) shows that major depression is associated with […]
α-Viniferin Induces Intrinsic Apoptosis in Triple-Negative Breast Cancer Cells and Synergizes With SB203580 Independently of p38 Mitogen-Activated Protein Kinase
J Breast Cancer. 2026 Jun 4. doi: 10.4048/jbc.2026.0016. Online ahead of print. ABSTRACT PURPOSE: Triple-negative breast cancer (TNBC) is recognized as the most aggressive subtype of breast cancer. Due to the absence of established molecular targets, treatment options remain limited. In this study, we investigated the anticancer effects of α-viniferin in TNBC cells. METHODS: The […]
Ndufa4l2 drives the pathological activation of Müller cells in ischemic retinopathy via the PI3K/AKT signaling pathway
Pathol Res Pract. 2026 May 30;286:156567. doi: 10.1016/j.prp.2026.156567. Online ahead of print. ABSTRACT Ischemic retinopathies are major causes of irreversible blindness such as proliferative diabetic retinopathy (PDR). Müller cells, essential for retinal homeostasis, undergo profound pathological activation (reactive gliosis, aberrant proliferation, and migration) under ischemic stress, exacerbating retinal structural disruption and disease progression; however, the […]