Author

Guang-Da Li

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Case report Open access Jan 2026

First Cornelia de Lange Syndrome Type 4 Caused by the Gonadal Mosaicism of RAD21 Deletion

Background Cornelia de Lange syndrome (CdLS) currently has seven known causative genes, inherited in an autosomal or X‐linked dominant pattern. Clinical features are variable, including dysmorphic facial features, intrauterine and/or postnatal growth retardation, multiple organ system malformations, and neurodevelopmen...

Yan-Chuan Xie, Dong-Yan Li, Wen-Sheng Li et al. · Human Mutation · 0 citations

Open access Aug 2026

Molecular Mechanisms of Podophyllotoxin-Induced Subacute Kidney Injury: Oxidative Stress-Mediated Activation of the TRPM2-NOD-NF-κB Pathway.

PT induces subacute kidney injury involving oxidative stress and TRPM2-NOD-NF-κB-related inflammatory signalling and JNJ-28583113 attenuated PPT-induced ROS accumulation, apoptosis, Nod1/Nod2 expression, and NF-κB p65 phosphorylation.

Lulu Chen, Zi-Long Chen, Xin-Ze Li et al. · Environmental Toxicology and... · 0 citations