Mouse Monoclonal to PCLO
- Known as:
- Mouse Monoclonal PCLO
- Catalog number:
- 11-698-C025
- Product Quantity:
- 0.025 mg
- Category:
- -
- Supplier:
- Exbio
- Gene target:
- Mouse Monoclonal PCLO
Related genes to: Mouse Monoclonal to PCLO
- Gene:
- PCLO NIH gene
- Name:
- piccolo presynaptic cytomatrix protein
- Previous symbol:
- -
- Synonyms:
- KIAA0559, DKFZp779G1236, ACZ
- Chromosome:
- 7q21.11
- Locus Type:
- gene with protein product
- Date approved:
- 2001-06-25
- Date modifiied:
- 2015-01-28
Related products to: Mouse Monoclonal to PCLO
Related articles to: Mouse Monoclonal to PCLO
- The craniofacial region represents a distinct yet poorly understood pattern of extranodal involvement in diffuse large B-cell lymphoma (DLBCL). However, the prognostic significance and molecular characteristics of craniofacial involvement in extranodal DLBCL (EN-DLBCL) remain unclear. This study included 164 patients with EN-DLBCL, comprising 98 with craniofacial involvement (CFI) and 66 without. Prognostic factors and survival, as well as relapse and other clinical factors, were analyzed. Targeted next-generation sequencing was performed in 87 cases. Patients with CFI had significantly inferior 5-year progression-free survival (p = 0.0097) and overall survival (p = 0.0088), and CFI remained an independent adverse prognostic factor after adjustment for International Prognostic Index (IPI). Sequencing showed that MYD88, TMSB4X, and PCLO mutations were more frequent in the CFI group. Among the recurrently mutated genes in patients with CFI, only BTG2 mutation was associated with both inferior PFS and OS, whereas no significant prognostic effect was observed in patients without CFI. Immunohistochemistry further demonstrated significantly lower BTG2 expression in BTG2-mutant samples than in wild-type samples (p = 0.008). These findings indicate that CFI defines a clinically unfavorable subset of EN-DLBCL with distinct molecular features and that BTG2 alteration may serve as a candidate biomarker for risk stratification in this setting. - Source: PubMed
Fang JianguoHua JiaminYang ShaoxinSun YifengZhao ChongLiu JiajiaYuan YuanZhai YuanmeiLu WeiShi Jun - To investigate the clinicopathological features, molecular genetic characteristics, and efficacy of chemotherapy regimens with different intensities in high-grade B-cell lymphoma with aberrations in the long arm of chromosome 11 (HGBCL-11q), this study retrospectively analyzed the data of 51 patients with HGBCL-11q at Henan Cancer Hospital, summarized their clinical, pathological and molecular profiles, and compared the differences in therapeutic efficacy and survival outcomes between groups with different treatment intensities. The median age of the 51 patients was 52 (5 - 84) years, with a male-to-female ratio of 1.22:1, and the digestive system was the most common site of involvement (18/51, 35.3% ). The tumor cells exhibited a germinal center B-cell immunophenotype: 47 patients (92.2% ) showed variable c-Myc expression in tumor cells (the proportion of positive cells ranged from 20% to 85% ), 41 patients (80.4% ) were negative for Bcl-2 expression, and 47 patients (92.2% ) had a Ki-67 proliferation index ≥90%. Fluorescence in situ hybridization confirmed the absence of MYC gene rearrangement and the presence of characteristic aberrations in 11q; recurrently mutated genes included DDX3X (60.0%, 12/20), PCLO (50.0%, 10/20), TP53 (45.0%, 9/20) and GNA13 (40.0%, 8/20), et al. The complete response rate in the rituximab-containing high-intensity chemotherapy group was significantly higher than that in the non-high-intensity group [87.5% (21/24) 60.9% (14/23), =0.036], with longer progression-free survival [ (62.7±3.9) months (41.7±6.5) months, =0.014]. In conclusion, HGBCL-11q has distinctive clinicopathological manifestations and molecular genetic features, and rituximab-containing high-intensity chemotherapy can significantly improve the response rate and survival of patients. - Source: PubMed
Wang LGao GJin Y PWu D YChang L YWei X DZhou K SXia Q X - Autism spectrum disorder (ASD) is genetically heterogeneous, involving rare and common variants that disrupt neurodevelopmental pathways. To explore this complexity, we performed whole-exome sequencing in children with ASD. Clinical phenotypes were systematically recorded, and severity was classified according to DSM-5 criteria. Variants were interpreted using ACMG guidelines, with recurrence analysis to identify genes shared across individuals and cohort enrichment testing against gnomAD. To examine genotype-phenotype relationships, we applied SKAT/SKAT-O across 16 phenotypes after covariate adjustment. Among 25 included individuals, pathogenic or likely pathogenic variants were found in 9, yielding a diagnostic yield of 36%. These involved genes linked to neurodevelopmental, epileptic, metabolic, and syndromic disorders. Recurrence analysis identified 586 genes present in at least two individuals, with PABPC1, GTF2I, PCLO, PKD1, and EP400 being the most frequent. SKAT/SKAT-O revealed the strongest burden associations for motor delay, aggressive behavior, mutism, anxiety, unresponsiveness to spoken voice, digestive disorder, and sleep disturbances, with limited overlap across phenotypes. Several recurrent genes also showed phenotype-specific associations. Overall, this integrative WES study provides clinically actionable diagnoses, highlights recurrent genes, and uncovers phenotype-specific signals, supporting convergent pathways with gene-level heterogeneity. - Source: PubMed
Publication date: 2026/08/01
Gaouzi ZainabSpoto GiuliaPolito FrancescaFestali RihabGasparo IreneLicitri LauraMirabello Anna MariaRomano SilviaMacaione VincenzoDini NouzhaEl Fahime ElmostafaBoutayeb SaberKriouile YamnaDiawara Idrissadi Rosa GabriellaAguennouz Mhammed - Retinal photoreceptors transmit light signals to their postsynaptic neurons with high precision, speed and without fatigue. This high-throughput neurotransmission relies on a sophisticated molecular machinery centered on a presynaptic organelle, the synaptic ribbon (SR). A hallmark of SRs is the recruitment of synaptic vesicles (SVs) from the cytoplasmic SV pool via "tethering". However, the identity of the tether and the mechanism underlying SV tethering are unknown. Here, we show that cell-specific deletion of the SR-associated protein Piccolino from rod photoreceptors disrupts SR morphology and ablates SV tethering. Nanoscale epitope mapping suggests that Piccolino acts as an SV tether by extending its N terminus away from the SR into the SV-filled terminal cytoplasm. With in silico modeling and protein lipid-binding assays, we demonstrate that an amphipathic liquid packing sensor motif (ALPS) at the N terminus of Piccolino binds SV-like liposomes, implicating this interaction as the mechanism underlying SV tethering. Together, our findings identified Piccolino as the molecular link between the SR and SVs. - Source: PubMed
Publication date: 2026/07/23
Gierke KasparGadomska MichalinaBreuer JuliaBahr Julius NMüller Tanja MEhnis HannaZobel SinaMejia Villagran NancyKirsch Sonja ASkrzypek AlexandraFrischknecht RenatoFejtová AnnaBöckmann Rainer AWichmann CarolinRegus-Leidig HannaBrandstätter Johann Helmut - CAST is a core active zone scaffold protein, yet its role in Rab6-dependent trafficking remains unclear. Here, we identify the coiled-coil domain of CAST (CC10) as a direct Rab6-binding module and show that CAST selectively interacts with the GTP-bound form of Rab6 in both heterologous cells and neurons. Biochemical mapping, isothermal titration calorimetry, and bimolecular fluorescence complementation demonstrate that CC10 is necessary and sufficient for Rab6 recognition. In cultured hippocampal neurons, CAST promotes the presynaptic accumulation of Rab6, whereas CC10-disrupting mutations abolish this effect without detectably altering Rab6 distribution within axonal regions under our imaging conditions. These results define a CAST-dependent mechanism that spatially restricts Rab6 at presynaptic boutons, extending ELKS-based models of Rab6 cargo capture and providing a structural basis for the organization of presynaptic trafficking. - Source: PubMed
Publication date: 2026/07/10
Hida YamatoShimada AtsushiKim Yeon-JeongKato-Murayama MiyukiShirouzu MikakoOhtsuka Toshihisa