Ask about this productRelated genes to: PORCN Blocking Peptide
- Gene:
- PORCN NIH gene
- Name:
- porcupine O-acyltransferase
- Previous symbol:
- DHOF
- Synonyms:
- MG61, PORC, PPN, por
- Chromosome:
- Xp11.23
- Locus Type:
- gene with protein product
- Date approved:
- 2004-05-12
- Date modifiied:
- 2017-05-16
Related products to: PORCN Blocking Peptide
Related articles to: PORCN Blocking Peptide
- - Source: PubMed
Publication date: 2026/04/17
Sahar AtiyaMajid HayaDahalia MansiIslam Sajad UlNidhi - Focal dermal hypoplasia is an X-linked dominant genetic disorder predominantly affecting females, caused by loss-of-function variants in the gene, characterized by ectodermal, skeletal, craniofacial and ocular structural abnormalities. We report three cases with novel variants, and performed a comprehensive review of the clinical features of this disorder focusing on Asian patients, and identified significant differences compared with previous literature focusing on Caucasian patients. Cleft lip and palate is a frequently reported feature in Asian patients, but not in Caucasians. This improves the understanding of this rare disease in particular ethnic-specific differences. - Source: PubMed
Publication date: 2026/03/16
Chan Joshua C KWu Phoebe K WYiu Wing ChungHo Stephanie K LLuk Ho-Ming - The functions of circRNAs in hepatocellular carcinoma (HCC) till needs to be further elucidated. - Source: PubMed
Publication date: 2026/03/10
Huang YangXu LiangliangYang LinfengWu ZhenruLi LiDai YuDai JunlongZhang MingYi PengshengJiang LiXu Mingqing - The Wingless/Integrated (Wnt) signaling pathway governs embryogenesis, stem-cell renewal, and tissue repair; its dysregulation is a pivotal oncogenic driver. This review integrates recent multi-omic and translational studies to delineate how canonical and non-canonical Wnt cascades initiate, maintain, and disseminate tumors across diverse organs. We summarize mutational hotspots, including APC, CTNNB1, RNF43, and ZNRF3, which trigger ligand-independent β- catenin stabilization, and contrast these with ligand-driven circuits within the tumor microenvironment (TME) that amplify inter- and intratumoral heterogeneity. Tumor-specific expression profiles reveal the biphasic role of Wnt-4 in clear-cell renal carcinoma, β-catenin-mediated aggressiveness in triple-negative breast cancer, and LEF1-dependent transcriptional programs in pediatric hepatoblastoma and medulloblastoma. Crosstalk with TGF-β and Notch pathways, as well as the epithelial- mesenchymal transition (EMT) program, sustains cancer stem-cell traits, fuels metastasis, and underpins resistance to chemotherapy, radiotherapy, and immunotherapy. Mechanistically, Wnt signaling up-regulates multidrug-resistance efflux pumps, enriches PD-L1, and skews tumorassociated macrophages (TAMs) toward immunosuppressive M2 phenotypes. Therapeutic advances include porcupine (PORCN) inhibitors, β-catenin/TCF blockers, and Frizzled-directed antibodies now in phase I/II trials; however, their efficacy is limited by on-target toxicities and adaptive resistance. Integration of Wnt-centric gene signatures and machine-learning risk models now enables patient stratification and outcome prediction. Targeting context-dependent Wnt signaling, combined with rational combinatorial immunotherapy and TME reprogramming, offers a promising precisiononcology strategy to overcome therapeutic barriers in Wnt-driven malignancies. - Source: PubMed
Publication date: 2026/02/20
Lyu GuizhenZhang YuxinLi Dongbing - We report the first female case of Goltz-Gorlin syndrome with the PORCN c.1093C>T (p.Arg365Trp) variant, previously described only in a male with Klinefelter syndrome. This case expands the known phenotypic and genotypic spectrum of FDH. - Source: PubMed
Publication date: 2026/02/02
Bolzon AnnaCaroppo FrancescaPassaglia LisaBoaretto FrancescaSalviati LeonardoBelloni Fortina Anna