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
- Progressive Familial Intrahepatic Cholestasis (PFIC) is a rare liver disorder that, although typically present in childhood, can also occur in adulthood. Early diagnosis is crucial for appropriate clinical management, prognostic assessment, and therapeutic decision-making; however, it remains challenging due to phenotypic variability and the frequent identification of genetic variants of uncertain significance (VUS). Advances in next-generation sequencing (NGS) and whole-exome sequencing (WES) have improved the detection of disease-associated variants, revealing that the same genetic variants-often in a heterozygous state-may lead to adult-onset cholestatic disease, with milder or atypical presentations, while still conferring a significant risk of progressive liver injury and related complications. To assess the diagnostic yield and clinical utility of NGS panels and WES in adults with suspected PFIC or unexplained cholestatic liver disease, focusing on variant interpretation, emerging disease-associated genes, and clinical significance of VUS. A literature review was conducted to assess molecular diagnostics in adult cryptogenic cholestasis, with a focus on studies employing targeted NGS panels and WES. Selected studies were examined for diagnostic yield, variant classification, interpretive challenges, including VUS, and integration with clinical data. Data on patient demographics, sequencing techniques, and variant interpretation strategies were extracted to evaluate the current capabilities and limitations of genomic testing. From an initial search of 211 publications, 15 studies met the inclusion criteria, comprising five large adult cohorts and ten single-patient or trio-based reports. Across 72 patients, sequencing technologies identified 75 pathogenic or likely pathogenic variants, predominantly missense mutations, demonstrating high genetic heterogeneity. The most implicated genes included , , , , and , with diagnostic yields ranging from 13.2% in large heterogeneous cohorts to substantially higher rates in carefully selected individual cases. VUS were identified in up to 67% of cases, highlighting the need for multidisciplinary interpretation integrating clinical, biochemical, and genetic data. Emerging evidence also implicated ciliopathy-associated genes such as , , , , and , expanding the genetic spectrum of adult cholestasis. Clinically, presentations ranged from mild biochemical abnormalities to progressive cholestasis, with pruritus being a common feature across studies. Comprehensive genetic testing significantly enhances diagnostic accuracy, informs prognosis, and guides individualized management in adults with cryptogenic cholestasis. Emerging evidence suggests that ciliopathy-associated genes may contribute to the genetic architecture of adult cholestatic disorders, further expanding the spectrum of disease-associated genes. However, the high prevalence of VUS remains a major challenge, highlighting the need for functional studies, longitudinal follow-up, and improved variant interpretation frameworks. As genomic technologies and analytical approaches continue to evolve, genetic testing is expected to play an increasingly central role in precision hepatology. - Source: PubMed
Publication date: 2026/07/25
Conti AmaliaGabrielli FilippoFerrari SimonaVaisfeld AlessandroDe Masi ClaudiaAzzaroli FrancescoPiscaglia FabioVitale Giovanni - Acute myeloid leukemia (AML) exhibits substantial biological heterogeneity that is not fully captured by current prognostic systems. We aimed to identify transcriptome-wide gene expression markers associated with overall survival in newly diagnosed AML patients. - Source: PubMed
Publication date: 2026/08/08
Tungjitviboonkun SongpholMullapudi NikhilGardev Elly - The late laying period is often accompanied by declines in productive performance, egg quality, and intestinal health in hens. This study used a 2 × 2 factorial design to evaluate the effects of dietary theabrownins (TB), bioactive polyphenols derived from dark tea, on production performance, egg quality, intestinal health, and cecal microbiota in 47- and 67-week-old laying hens. A total of 192 Lohmann Gray hens were fed diets containing 0 or 100 mg/kg TB for 12 weeks. - Source: PubMed
Publication date: 2026/08/10
Zhang LiXu WenwenZhang KeyingDing XuemeiZeng QiufengBai ShipingLiu JingboWang Jianping - Brown mushroom stem (BMS), a nutrient-rich by-product of the mushroom processing industry, represents a potential sustainable feed ingredient for poultry. However, its effects on intestinal morphology and barrier-related gene expression in layer chicks are not well characterized. This study evaluated the influence of dietary BMS on ileal morphology and intestinal barrier-related gene expression in layer chicks. A total of 160 Lohmann LSL Lite chicks were randomly allocated to 4 dietary treatments: a control diet and control diets containing 2%, 4%, or 6% BMS as partial replacements for soybean meal on an equivalent basis, respectively. Each treatment had 5 replicates with 8 birds per replicate, and the trial lasted 36 d. Ileal samples were collected for histomorphological evaluation and quantitative real-time PCR of barrier-associated genes, including claudin-1 (), occludin (), tight junction protein 1 (), tight junction protein 2 (), and mucin-2 (). Data were analyzed using one-way ANOVA, and orthogonal polynomial contrasts were applied to determine linear and quadratic responses to increasing BMS inclusion levels. Villus height decreased in BMS-fed groups compared with the control (linear and quadratic effects, < 0.001), whereas crypt depth showed a quadratic response with the lowest value at 4% BMS ( < 0.001). Expression of mRNA was significantly elevated at 2% BMS but declined at higher inclusion levels (quadratic effect, = 0.001). In contrast, mRNA expression decreased with increasing BMS inclusion (linear effect, = 0.009). No significant differences were observed for , , or mRNA expression ( > 0.05). A composite index of barrier-related gene expression was numerically the highest at 2% BMS supplementation but did not differ significantly among treatments. These findings suggest that low dietary inclusion of BMS may support intestinal barrier-related gene expression in layer chicks, although higher levels may alter intestinal morphology without corresponding changes in barrier-related gene expression. Optimizing BMS inclusion could support sustainable poultry production by utilizing mushroom processing by-products as an alternative feed ingredient. - Source: PubMed
Publication date: 2026/07/21
Salahuddin MdGoswami Prantic KumarAbdel-Wareth Ahmed A AStamps Kayla GPech-Cervantes AndrésHitit MustafaLohakare Jayant - Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC-associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty. We conducted a multicenter cohort study of children with liver disease and/or cholestasis harboring monoallelic VUS in ATP8B1, ABCB11, ABCB4, TJP2, or NR1H4. Clinical and longitudinal data were analyzed, and variant frequencies were compared with population data from gnomAD. Twenty-six children with 37 monoallelic PFIC-gene VUS met inclusion criteria, and multigenic variant burden was common (73.1%). PFIC-like biochemical patterns were observed in 42.3% but were frequently transient, and no patient met criteria for monogenic PFIC on longitudinal follow-up. Severe liver outcomes, including transplantation in two patients, occurred in a subset of patients with ABCB4 and/or ATP8B1 VUS and multigenic burden, along with competing clinical factors. Among 22 variants with population data, 11 (50%) demonstrated significant enrichment after multiple-testing correction, most commonly involving ABCB4. These findings suggest that monoallelic PFIC-associated variants currently classified as VUS are unlikely to represent monogenic disease drivers in isolation and may instead contribute within multigenic or susceptibility-based contexts. Population-level enrichment, particularly involving ABCB4, further supports careful phenotype-anchored, longitudinal interpretation in pediatric liver disease. - Source: PubMed
Publication date: 2026/07/20
Hoskins Brett JPramparo TizianoJarasvaraparn ChaowapongWilsey Michael JSlowik VoytekKunam LakshmiStoll Janis MQuiros-Tejeira Ruben ELam SimonKarnsakul Wikrom