Ask about this productRelated genes to: TJP2 antibody
- Gene:
- TJP2 NIH gene
- Name:
- tight junction protein 2
- Previous symbol:
- DFNA51
- Synonyms:
- ZO-2, X104, ZO2
- Chromosome:
- 9q21.11
- Locus Type:
- gene with protein product
- Date approved:
- 1999-07-01
- Date modifiied:
- 2019-04-23
Related products to: TJP2 antibody
Related articles to: TJP2 antibody
- Pediatric hepatocellular carcinoma (HCC), a rare and life-threatening malignancy that typically arises de novo, is strongly associated with underlying metabolic or genetic disorders. Its molecular pathogenesis remains poorly understood due to the limited number of well-documented cases. Herein, we present the case of an 11-year, 5-month-old boy who presented with incidentally detected cirrhosis, growth retardation, and severe pruritus. Whole-exome sequencing revealed a novel homozygous variant in the mitochondrial transcription factor A (TFAM) gene (c.197C>A; p.Pro66His) and compound heterozygous variants in the tight junction protein 2 (TJP2) gene (c.142G>C; p.Val48Leu and c.877C>T; p.Arg293Trp), all classified as variants of uncertain significance (VUS). Immunohistochemistry confirmed reduced expression of TFAM and TJP2, while electron microscopy demonstrated abnormal mitochondrial ultrastructure and compromised biliary epithelial integrity, supporting a diagnosis of combined TFAM and TJP2 deficiency. The disease rapidly progressed from moderately to well-differentiated HCC within 15 months. Following laparoscopic tumor resection, the patient successfully underwent orthotopic liver transplantation at 13 years of age, with normal graft function maintained at the 8-month follow-up. This case provides insights for the diagnosis and management of pediatric liver disease involving multiple VUS, suggests a potential novel pathogenic mechanism of HCC, and highlights the possible synergistic effects of multigene variants. Whether combined TFAM and TJP2 deficiencies directly and synergistically accelerate liver disease progression and hepatocarcinogenesis warrants further validation through additional clinical cases and functional studies. - Source: PubMed
Publication date: 2026/05/05
Yu JindanZhao HongLou YouyouFang YouhongGu WeizhongChen JieLou Jingan - - Source: PubMed
Publication date: 2026/04/28
Li JianJiang YangHe BaihuiLiu ZhennanShi YehongZhai Xiaomei - Atopic dermatitis (AD) is increasingly recognized as a systemic inflammatory disorder linked to intestinal immune and microbiome dysregulation. However, whether dietary galactomannan fibers can mitigate AD through coordinated modulation of the gut-skin axis remains unexplored. This study investigated the anti-atopic potential of orally administered partially hydrolyzed guar gum (PHGG), a low-viscosity, fermentable galactomannan enriched in low-mass oligosaccharides (mannose/galactose ratio of 1.87). - Source: PubMed
Publication date: 2026/04/26
Kakooza DerrickYu HyeonjunJeong JonghyunShin Jung CheulKim Woo JungMoon Sung-KwonKim Hoon - Blood-brain barrier (BBB) disruption is a key pathological event following traumatic brain injury (TBI), yet its molecular and spatial characteristics remain incompletely understood. Here, we developed a dual dye-labeling system to assess the temporal and spatial dynamics of BBB permeability following controlled cortical impact (CCI) injury in (KO) and (WT) mice. By tracking Evans Blue Dye (EBD), sodium fluorescein (NaFl), and IgG deposition, we reveal distinct patterns of extravasation in the injured cortex and hippocampus. NaFl, a small-molecule tracer, continues to extravasate for 7 days post-injury, whereas EBD leakage diminishes after 4 days. Notably, EC-specific EphA4 KO mice exhibit a protective role in BBB integrity. To further investigate BBB regulation, we integrated spatial transcriptomics with dye quantification, revealing that EphA4 EC ablation upregulates key BBB-related genes () and neuroprotective genes ( and ). Notably, Wnt signaling genes are upregulated in the KO cortex, and we demonstrate that inhibition of Frizzled-4 (FZD4)/Wnt attenuates BBB protection in KO mice. Importantly, direct pharmacological activation of Wnt signaling with the FZD4 agonist FZM1.8 reduces lesion volume and BBB disruption. Overall, these findings demonstrate the effectiveness of spatial transcriptomics and dual-dye labeling in uncovering region-specific transcriptional changes associated with BBB disruption following CCI injury and in assessing the influence of EphA4/Wnt signaling. Wnt signaling emerges as a promising pathway for BBB protection and repair following TBI, offering a potential strategy to mitigate secondary brain injury. - Source: PubMed
Publication date: 2026/04/09
de Jager CarolineJu JingCorbo MarcoPatel KaranTheus Michelle - Nonsyndromic hearing loss (NSHL) is a highly prevalent, genetically heterogeneous condition, yet its molecular basis in the Singaporean population remains underexplored. We performed whole-exome sequencing and integrative bioinformatics analysis in 115 patients with NSHL to define population-specific genetic biomarkers. A molecular diagnosis was achieved in 57% of cases, with 76% of identified variants classified as pathogenic or likely pathogenic and 24% exhibiting high pathogenic potential. Common East Asian NSHL genes, including , , and , were frequently detected alongside less prevalent genes such as , , , , , , , , , , , , , , , highlighting extensive genetic heterogeneity. Notably, multiple novel variants, including c.554-2A>G, and TNC p.N750Y, were identified, expanding the known mutational spectrum of . Genotype-phenotype correlations revealed that variants were primarily associated with mild to moderate hearing loss, whereas variants correlated with severe to profound phenotypes in the Singaporean populations. Collectively, our study provides important insights into the genetic architecture of NSHL in Singapore's population. In addition, it supports improved molecular diagnosis yield and informed clinical management decisions as well as the advancement of precision medicine approaches aimed at reducing the burden of hearing loss in the region. - Source: PubMed
Publication date: 2026/02/26
Lim Che KangCheng Mei ShuangLow GerardTang Joyce Zhi'enNg Jia HuiOng Ni GinLeem Pei ShanLim Su AnnThong Jiun FongTan Vanessa Yee Jueen