Ask about this productRelated genes to: SIGLEC12 Blocking Peptide
- Gene:
- SIGLEC12 NIH gene
- Name:
- sialic acid binding Ig like lectin 12 (gene/pseudogene)
- Previous symbol:
- SIGLECL1
- Synonyms:
- SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1
- Chromosome:
- 19q13.41
- Locus Type:
- gene with protein product
- Date approved:
- 2001-08-28
- Date modifiied:
- 2016-01-20
Related products to: SIGLEC12 Blocking Peptide
Related articles to: SIGLEC12 Blocking Peptide
- : Genetic generalized epilepsies (GGE) often remit in childhood, yet a subset of adults remain pharmacoresistant with substantial morbidity. The genetic basis of adult pharmacoresistant GGE is poorly defined. This descriptive study used whole-genome sequencing (WGS) to identify recurrent coding variants and pathways associated with pharmacoresistant adult GGE. : WGS was performed in ten racially diverse adults (mean age 37.2 years; range 20-52) with electroencephalographically confirmed, pharmacoresistant GGE (mean onset 13.7 years). Analysis prioritized variants present in at least 80% of participants and which were either (i) missense variants predicted deleterious with ANNOVAR or (ii) loss-of-function variants predicted high-impact from snpEff. Pathway enrichment and overlap with a commercial clinical epilepsy gene panel were assessed. : Filtering identified 133 unique, deleterious coding variants across 69 genes shared by at least eight participants. Four genes (APOL4, KMT2C, SON, VDR) overlapped a clinical epilepsy panel, supporting the capacity of WGS to recover clinically relevant loci. Prioritized loci implicated gastrointestinal and metabolic regulators (e.g., MUC6, PNLIPRP2), chemosensory receptors (OR10D3, OR8U1, TAS2R19), neuroimmune mediators (LILRA2, SIGLEC12, OAS2), and ion transporters (KCNJ12, P2RX5, RHBG), consistent with multifactorial mechanisms of pharmacoresistance. : This exploratory WGS study focused exclusively on adults with pharmacoresistant GGE, revealing shared high-impact variants and convergent pathways spanning absorption/metabolism, vitamin D signaling, immunity, and ion transport. Findings broaden the genetic landscape of pharmacoresistant GGE while motivating validation in larger, multiethnic cohorts. - Source: PubMed
Publication date: 2026/05/14
Kidder Benjamin LXu JianGeng RuiDlugas HunterVavilikolanu AnushaChen WeiWasade Vibhangini S - - Source: PubMed
Publication date: 2026/02/22
Berkel Caglar - Altered bile acid profiles in the follicular fluid have been implicated in the pathogenesis of PCOS. Whether certain bile acids modulate the lytic death of ovarian granulosa cells following regulated cell death mechanisms such as pyroptosis and necroptosis in the context of PCOS is unknown. We here treated ovarian granulosa cells (KGN cell line) with different concentrations of three bile acids (GCDCA, TCA, and GCA) in vitro, and then comparatively analyzed the levels of IL-18, LDH, and PGE2 released from these cells by performing ELISA experiments, in order to determine if these bile acids lead to the loss of plasma membrane integrity in granulosa cells. We found that GCDCA (glycochenodeoxycholic acid) at a concentration of 2500 nmol/L significantly increases the release of LDH from KGN cells in vitro. At this concentration, GCDCA treatment resulted in higher than 30% increased release of LDH from granulosa cells. This bile acid-induced increases in LDH release from granulosa cells were specific to GCDCA, because two other bile acids (TCA (taurocholic acid) and GCA (glycocholic acid)) failed to significantly induce the release of LDH from KGN cells. Further mechanistic studies are needed to determine which plasma membrane rupture mechanisms are mostly involved in LDH release from granulosa cells upon GCDCA treatment. For instance, NINJ1-KO and SIGLEC12-KO KGN cells should be used to see in which case GCDCA fails to induce the release of LDH from granulosa cells, and to identify molecular players involved in bile acid-induced lytic cell death-associated membrane rupture in granulosa cells in the context of PCOS. - Source: PubMed
Publication date: 2026/02/19
Avcioglu Sukran YagmurBerkel Caglar - - Source: PubMed
Publication date: 2025/12/22
Berkel Caglar - Siglec-XII, encoded by SIGLEC12, is a unique sialic acid-binding immunoglobulin-like lectin. It lacks a highly conserved R122 residue for sialic acid recognition in humans. Although it is upregulated in bladder cancer (BCa), its role in tumorigenesis remains largely unexplored. This study aims to investigate the expression patterns of SIGLEC12 in BCa and its correlation with disease features. : An integrated analysis of transcriptomic data and clinical profiles was conducted using various databases and tools, including UALCAN, GEPIA, TIMER, CAMOIP, and CPADs. The analyses encompassed SIGLEC12 expression, survival rates, immune infiltration levels, promoter methylation, and correlation with drug response. : SIGLEC12 expression was higher in both low-grade papillary and high-grade invasive non-papillary BCa. Higher SIGLEC12 expression resulting from low promoter hypomethylation was detected at the stage II-IV of BCa, and was unrelated to disease stages and metastatic stages. Elevated SIGLEC12 expression correlated with increased immune cell infiltration, higher expression of oncogenic and immune checkpoint blockade-related genes, and drug resistance signatures. Mutation analysis confirmed the absence of the canonical R122 missense mutation, indicating that the structural integrity and potential functionality of Siglec-XII are preserved in BCa. : SIGLEC12 may have sialic acid recognition functions and serve as a potential early biomarker of BCa. - Source: PubMed
Publication date: 2025/10/22
Rathore VarshaLin Wan-Wan