2024年12月25日 · TJP2 (Tight Junction Protein 2) is a Protein Coding gene. Diseases associated with TJP2 include Cholestasis, Progressive Familial Intrahepatic, 4 and Hypercholanemia, …

Tight junction protein ZO-2 is a protein that in humans is encoded by the TJP2 gene. [5] Tight junction proteins (TJPs) belong to a family of membrane-associated guanylate kinase …

Familial hypercholanemia in Amish individuals is associated with mutations in tight junction protein 2 (encoded by TJP2, also known as ZO-2) and bile acid Coenzyme A: amino acid N …

Protein-truncating mutations in the tight junction protein 2 gene (TJP2) are shown to cause failure of protein localisation, with disruption of tight-junction structure leading to severe cholestatic …

通过血浆、肝脏和胆汁的生化分析以及电子显微镜、组织学和免疫染色来评估对肝脏的影响。 使用异硫氰酸荧光素-葡聚糖 (4 kDa) 评估 TJ 屏障渗透性。 胆酸（CA）饮食用于评估对肝损伤的 …

2022年9月23日 · The DDC-diet-induced hepatocyte transdifferentiation in Tjp2 cKO mice requires Yap and Wwtr1/Taz, whose protein expression is upregulated in hepatocytes lacking Tjp2, but …

The TJP2 gene encodes tight junction protein-2, which belongs to a family of membrane-associated guanylate kinase (MAGUK) homologs involved in the organization of epithelial and …

TJP2 disease in children includes a full clinical spectrum of severity, with mild or intermittent forms as well as the severe and minimal forms hitherto described. Biallelic TJP2 variants must be …

Biallelic pathogenic variants in the tight junction protein 2 gene (TJP2) were newly reported as a cause for PFIC type 4; however, only a limited number of patients and undisputable variants …

Progressive familial intrahepatic cholestasis (PFIC) encompasses a group of autosomal recessive disorders with high morbidity and mortality. Variants in the gene encoding tight junction protein …