KCC4 _ SLC12A7
- Known as:
- KCC4 _ SLC12A7
- Catalog number:
- Y213869
- Product Quantity:
- 200ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- KCC4 _ SLC12A7
Related genes to: KCC4 _ SLC12A7
- Gene:
- SLC12A7 NIH gene
- Name:
- solute carrier family 12 member 7
- Previous symbol:
- -
- Synonyms:
- KCC4, DKFZP434F076
- Chromosome:
- 5p15.33
- Locus Type:
- gene with protein product
- Date approved:
- 1999-07-30
- Date modifiied:
- 2016-10-05
Related products to: KCC4 _ SLC12A7
Related articles to: KCC4 _ SLC12A7
- Although distant metastasis is uncommon in differentiated thyroid carcinoma (DTC), it remains the leading cause of thyroid cancer-related mortality. The genetic landscape of distantly metastatic DTC (DMDTC) has not been well characterized in large cohorts. This study aimed to identify functional genetic alterations in DMDTC and validate their biological significance. We included 78 patients with DMDTC and performed DNA-based next-generation sequencing (NGS) in all cases, followed by RNA-based NGS for fusion gene detection, along with a review of previously reported isolated cases. Plasmids harbouring novel variants, including SPON1::ALK and RFTN1::BRAF fusions, and mutations in PTEN (c.322_345del, c.740del, c.968dup), STK11 (c.842C>T, c.1225C>T), and DNMT3A (c.891G>A, c.2312G>A, c.2595A>T, c.2606G>A) were constructed and transfected into TPC-1 and HEK293T cells to investigate downstream signalling. The methylation status of differentially methylated genes (DMGs) associated with DNMT3A mutations was analysed using the Infinium MethylationEPIC v2.0 BeadChip, with several DMGs validated by real-time quantitative PCR. The cohort consisted of 25 males and 53 females, with a mean age of 60.3 years at the diagnosis of metastasis. Histological types included papillary carcinoma (31 cases), follicular carcinoma (44 cases), and oncocytic carcinoma (3 cases). The lung and bone were the most common metastatic sites. Multiple metastases and older age were associated with metastasis-free and overall survival. Genetic alterations involving phosphorylation signalling pathways were identified in 61 cases, among which pathological alterations of DNA damage repair (DDR)-related genes were detected in ten cases. Novel RFTN1::BRAF and SPON1::ALK fusions, along with PTEN (c.740del, c.968dup) and STK11 (c.842C>T) mutations, could enhance downstream phosphorylation levels. DNMT3A mutations (c.891G>A, c.2312G>A, c.2595A>T, c.2606G>A) induced genome-wide methylation dysregulation, with altered expression of SLC12A7, FLNC, HMGB2, BNC2, and DAPK1. This study shows that DMDTCs are characterized by dysregulated phosphorylation signalling, accompanied by chromosomal instability and aberrant methylation, thus underscoring DDR gene-targeted therapy as a promising strategy. © 2026 The Pathological Society of Great Britain and Ireland. - Source: PubMed
Publication date: 2026/03/25
Kong WeimaoBao LongnvHu JianxiaLi GuangqiLiu YixuanRan WenwenZhang TinglingGu HaiyanZhang XinyiWang MeiliJi HongZong XuzhangZhang YongshengDang ShouqinLi DongFa LianglingYu XunzongPan XingzhuLi XueqingWang Jigang - Solute carrier family 12 member 7 (SLC12A7) is a membrane transporter implicated in ion homeostasis. Recent studies have suggested its aberrant expression in various malignancies; however, its functional roles and clinical relevance across cancers remain poorly defined. Given the limited understanding of SLC12A7 in oncogenesis and the urgent need for novel biomarkers, particularly in hepatocellular carcinoma (HCC), we conducted a comprehensive pan-cancer analysis to elucidate its potential oncogenic roles. - Source: PubMed
Publication date: 2026/01/26
Qu HaoranSun JunWang GuohaoDing ShuhongLi Xiaoming - Previously, we concluded that thyroid resections with multifocal, genetically distinct lesions more often showed florid chronic lymphocytic thyroiditis (CLT) than thyroids with clonally related multiple lesions. In this study, we characterized a consecutive cohort of thyroid lesions for molecular drivers and investigated the relationship between the molecular alteration type and florid CLT. Molecular diagnostic data from 414 patients (2016-2025) were retrospectively reviewed, including clinical information and histopathological evaluation. Gene fusion, somatic mutation, and chromosomal LOH/imbalance/copy-number analysis results were available for 342 cases. Eighty-eight gene rearrangements were identified across 86 patients. Most had been previously reported in thyroid neoplasia. Five well-known gene fusions revealed unusual breakpoints. Three gene fusions, previously reported only in nonthyroid malignancies (BRAF-TRIM24, SLC12A7-TERT, PVT1-MYC), were described for the first time in thyroid carcinoma. Three novel gene fusions (TRIM65-RET, FGFR2-WARS1, PPARGC1A-PPARɣ) produced in-frame translation products leading to corresponding mRNA expression. BRAF exon-skipping events were identified in treatment-naïve papillary thyroid carcinomas. Florid CLT (p = 0.002) and younger age (OR = 0.97 per year, p < 0.001) were independently associated with gene fusion-positive tumors. Sex, follicular nodular disease, and Graves' disease were not significant predictors. Our findings suggest an association between fusion-driven thyroid neoplasia and florid CLT, warranting further investigation. - Source: PubMed
Publication date: 2026/01/05
Jentus Maaia Margovan Wezel TomRuano DinaSnel MariekeSchepers AbbeyCrobach StijnMorreau Hans - Genome-wide association studies (GWAS) have substantially enhanced the understanding of genetic influences on phenotypic outcomes; however, realizing their full potential requires an aggregate analysis of numerous studies. Here we represent the first comprehensive meta-analysis of urinary metabolite GWAS studies, aiming to consolidate existing data on metabolite-SNP associations, evaluate consistency across studies, and unravel novel genetic links. Following an extensive literature review and data collection through the EMBL-EBI GWAS Catalog, PubMed, and metabolomix.com, we employed a sample size-based meta-analytic approach to evaluate the significance of previously reported GWAS associations. Our analysis identified 48 independent lead SNPs correlated with the levels of 14 unique urinary metabolites: alanine, 3-aminoisobutyrate, betaine, creatine, creatinine, formate, glycine, glycolate, histidine, 2-hydroxybutyrate, lysine, threonine, trimethylamine, and tyrosine. Notably, the results revealed a novel locus for tyrosine (rs4594899, SLC12A7, P = 6.6 × 10, N = 2623), and three newly associated independent SNPs within known loci: one for glycine (rs1755615, GLDC, P = 2.4 × 10, N = 5319), and two for 3-aminoisobutyrate (rs79053399, RAI14, P = 6.9 × 10, N = 4656; rs36071744, TTC23L, P = 2.97 × 10, N = 4872). These findings underscore the potential of urinary metabolite GWAS meta-analyses in revealing novel genetic factors that may aid in the understanding of disease processes and highlight the necessity for larger and more comprehensive future studies. - Source: PubMed
Publication date: 2025/07/01
Zaki Jihan KTomasik JakubMcCune Jade AScherman Oren ABahn Sabine - Screening for risk factors for the occurrence of multiple organ dysfunction syndrome (MODS) caused by pediatric influenza is an essential approach to improving treatment interventions and stratifying prognosis. This study aimed to select characteristic genes in MODS samples, demonstrate the correlation between characteristic genes and clinical variables, show the changes in expression levels of characteristic genes in the progression of MODS, and establish a predictive prolonged MODS (PM) line chart model. - Source: PubMed
Publication date: 2025/01/21
Chi MingLiu FeiChi HaifengLiu PingXu BoZhang Dawei