Ask about this productRelated genes to: MAML3 Blocking Peptide
- Gene:
- MAML3 NIH gene
- Name:
- mastermind like transcriptional coactivator 3
- Previous symbol:
- TNRC3
- Synonyms:
- KIAA1816, MAM2, CAGH3, GDN
- Chromosome:
- 4q31.1
- Locus Type:
- gene with protein product
- Date approved:
- 2002-11-04
- Date modifiied:
- 2015-11-19
Related products to: MAML3 Blocking Peptide
Related articles to: MAML3 Blocking Peptide
- Comprehensive molecular and phenotypic characterization of tumor models is still needed for a robust understanding of breast cancer mechanisms and therapies. Here, we explore the genome, transcriptome, and proteome of treated and untreated 4T1 triple-negative breast cancer cells to integrate genomic vulnerabilities and mutational profiling with novel treatment-induced delivery, signaling, and apoptotic responses. Nanoencapsulation (AuNPs) of berry-derived polyphenolic compounds was influenced by limited clinical use due to poor stability and bioavailability. Several physicochemical characterizations employed include TEM, FTIR, and targeted UPLC/MS-QQQ assays. We identified significant mutations to breast cancer-related tumor suppressor genes (TP53, BRCA2, BARD1, CDH1, NF1, and CHEK2) and deciphered the functional consequences leveraging the higher throughput Illumina NovaSeq X and NextSeq sequencing and the highly accurate predictive power of AlphaFold. We found ~5,700,000 single-nucleotide variations (SNVs) and 329448 indels, achieving an important upgrade over existing literature data. Multiple sequence alignment with WT mouse and human protein sequences demonstrated that mutations present in 4T1 cells are within highly conserved motifs of key tumor suppressors, emphasizing their relevance to human breast cancer biology. Key findings from differentially expressed gene enrichment analyses (GSEA) revealed positive gene enrichments of DNA repair regulators and TGF-β signaling, while having negative enrichments of cell adhesion, cadherin and MAPK signaling via PI3K/AKT/MAPK/Wnt pathways, potentially influencing apoptosis and immune evasion intrinsic to cancer. Notably, decreased expression of PIK3CG, PALLD, PTPRZ1, and CDH8 and increased expression of SEMA6C, WWOX, NHEJ1, and MAML3 suggested suppression of epithelial-to-mesenchymal transition (EMT) and metastatic potential. Further assessment of immunohistochemical, immunofluorescent, and flow cytometric data revealed that berry-derived nanoparticles are associated with the modulation of oncogenic transcription factors and linked to induced caspase-dependent execution-phase ROS-mediated apoptosis through pPAK1 dephosphorylation, downregulation of pPI3K/pAKT1/mTOR signaling, and modulation of pJAK3/STAT3 pathway supporting transcriptomic and transcriptional reprogramming of 4T1 treated cells. Together, our findings uncover a new strategy to capture berry-derived polyphenols required to regulate apoptosis, autophagy, immune response, and metastasis-related gene networks in breast cancer, thereby underscoring the therapeutic potential of functionalized AuNPs as delivery platforms for dietary phytochemicals. - Source: PubMed
Publication date: 2026/04/10
Fagbohun Oladapo FOladipo Adewale OGao ChengyuOlawoye BabatundeBerry Rachel SCaptain Jaylah CIragena OliveMcDougle XavierHarris Randy JRollins AmandaJoseph Jitcy SFadare Olatomide AKincaid Russell - To score pheochromocytoma and paraganglioma (PPGL) by using the composite pheochromocytoma and paraganglioma grading system (COPPS), to analyze the correlations of COPPS, the pheochromocytoma of the adrenal gland scaled score (PASS), and the grading system for adrenal pheochromocytoma and paraganglioma (GAPP) with tumor metastasis or recurrence and to explore the relationship between gene mutations and metastasis or recurrence in some PPGL. Clinicopathological data of the 186 paragangliomas diagnosed from January 2012 to December 2022 at Beijing Friendship Hospital, Beijing, China, the Peking University Third Hospital, Beijing, China, and the First Affiliated Hospital of Shihezi University, Shihezi, China were collected and analyzed. Predictive values of the three systems for tumor metastasis or recurrence were evaluated. Immunohistochemistry was performed using the EnVision staining method. Whole-exome sequencing was used to detect gene mutations in 15 tumors. Among the 186 PPGL patients, there were 93 females and 93 males, age 49 (47, 50) years old. Metastasis or recurrence occurred in 60 cases. 34 of the tumors were located in the retroperitoneum. The maximum tumor diameter was >7 cm in 42 cases. A COPPS score ≥3 was observed in 97 cases (52.2%, 97/186), among whom 53 cases (54.6%, 53/97) experienced metastasis or recurrence. The metastasis/recurrence rate in the COPPS score≥3 group was significantly higher than that in the <3 group (=46.469,<0.001). Tumor location in the retroperitoneum, presence of large nests of cells, pathological mitosis, spindle cells, capsular invasion, and fat infiltration were all associated with a COPPS score ≥3 (=18.370, 51.730, 8.914,18.750, 62.481, 19.354, all <0.05). The sensitivity of COPPS for predicting metastasis/recurrence was 88.3% (53/60), while the specificity was 65.1% (82/126). Negative expression of SDHB was observed in 50 cases, and negative expression of S-100 protein was observed in 96 cases. DNA extraction failed to produce qualified DNA in 3 cases; among the remaining 12 tumors that were subject to DNA extraction, 739 mutations (in 658 genes) were detected, including 300 germline mutations (in 265 genes) and 439 somatic mutations (in 408 genes). Related pathogenic germline mutation genes occurred on: SDHA, MDH2, MEN1, EGLN1, RET and SDHB. All 12 patients had more than four pathogenic germline mutations. Somatic pathogenic mutation genes included ATRX, KIF1B, EPAS1, HRAS, NF1, and MAML3. A higher COPPS score (≥3 versus <3) is associated with a higher metastasis/recurrence rate. Its sensitivity for predicting tumor metastasis/recurrence is higher than that of GAPP, while its specificity is higher than that of PASS. The combined use of negative SDHB and S-100 protein expression with COPPS could be used to stratify the risk of metastasis/recurrence in PPGL. - Source: PubMed
Wang L LYang S MWei X JSong L XZhang Q CZhao J MCheng MLi F - With the rapid development of genomic big data and genome-wide association study technologies, massive genomic data are available for the genetic dissection, development and utilization of important economic traits. Various GWAS algorithms have become increasingly efficient, enabling high-performance processing of these massive datasets. This has made it possible to conduct genetic dissection of economic traits based on big data and advanced statistical methods, which will provide accurate target loci for future trait improvement and genetic manipulation, greatly accelerating the process of genetic breeding. In this study, genotyping of 426 fish was performed using the T7 sequencing platform and 555,242 SNPs distributed across all the chromosomes were screened by data cleaning. We compared the performance of two GWAS methods, GCTA and GEMMA, in both single-trait and multi-trait frameworks. Twenty-nine SNPs significantly associated with seven traits were identified through single and multi-trait combined GWAS. Single-trait GWAS analysis using GCTA identified 1047 and 1452 significant loci for six growth traits and one sex trait (phenotypic sex, male or female) respectively, ultimately revealing 10 candidate genes, including , , , , , , , , , and . Similarly, 671 and 642 significant SNPs were detected with GEMMA for single-trait GWAS associated with six growth traits and the sex trait, respectively. In total, 16 candidate genes were mapped for these seven traits. Multi-trait GWAS was also performed using GEMMA for the six growth traits (sex was included as a covariate). The traits were grouped into five combinations based on their genetic correlations. A total of 37 SNPs were identified, corresponding to 10 candidate genes: , , , , , , , , , and . Notably, five overlapping candidate genes (, , , and ) were also identified in both single- and multi-trait GWAS methods of GEMMA, highlighting their genetic stability and significance. The two GWAS methods, GCTA and GEMMA, identified two genes that were the same. The results of this study provide molecular markers and genetic resources for the improvement of growth traits in . - Source: PubMed
Publication date: 2026/02/20
Chang ZhongyuChen AoLiang ShuoMa ChenlingZhou TaoZhao YunfengJiang Li - Biphenotypic sinonasal sarcoma (BSS) is a rare mesenchymal neoplasm characterized by dual neural and myogenic differentiation, recurrent PAX3 gene rearrangements, and low-grade morphology. High-grade transformation has been described, posing significant diagnostic challenges due to overlap among sinonasal tumors. DNA methylation profiling has emerged as a powerful diagnostic tool for sinonasal neoplasms, although BSS was not included in previous cohorts. In this study, we investigated the DNA methylation profile of BSS and its relationship with fusion type and high-grade transformation. Fourteen BSS samples were retrospectively collected from four academic institutions. All cases underwent genome-wide methylation profiling using the Illumina Infinium MethylationEPIC array, and available clinical, radiological, histopathologic, and immunohistochemical data were reviewed. RNA sequencing was performed when sufficient material was available. Methylation profiles were analyzed using t-distributed stochastic neighbor embedding (t-SNE) and compared with a reference cohort of sinonasal tumors. The median patient age was 52.7 years, with a female predominance (M:F ratio 1:2.25). The most common fusion was PAX3::MAML3 (6/12, 50.0%), followed by PAX3::FOXO1 and other rare rearrangements, including PAX3::NCOA2, PAX3::YAP1, and FUS::POU2AF3, detected in one case each (1/12, 8.3%). Most importantly, all BSS samples formed a cohesive epigenetic group upon dimensionality reduction, clearly separated from other sinonasal tumors. No specific clustering was seen among different fusion types or tumor grade. Our findings support that BSS represents a unique and molecularly distinct sinonasal sarcoma with a characteristic DNA methylation signature, independent of gene fusion partners or histologic progression, providing a valuable tool for the classification of challenging cases. - Source: PubMed
Publication date: 2026/02/18
Gomes Yuri Merlottide Castro João Víctor AlvesGomes Nicolai MerlottiAbreu Rodrigo FonsecaKulikowski Leslie DomeniciWolff Beatriz MartinsPinto Clóvis AntonioNascimento Antonio GToledo Ronaldo NunesMeyer AndersFernandes Igor LimaNeto Cristovam ScapulatempoJurmeister PhilippCapper DavidDermawan Josephine KFritchie Karen JBezerra Stephania MartinsCosta Felipe D'Almeida - Undifferentiated round cell sarcomas (URCSs) are tumors of bone and soft tissue that are heterogeneous in terms of driver events and diverse in their clinical course. - Source: PubMed
Publication date: 2026/02/05
Panferova AgnesaSinichenkova KseniaAbasov RuslanSidorov IlyaUsman NataliaChernev AlexeyLitvinov DmitryKarachunskiy AlexanderGrachev NikolaiDruy Alexander