Human Kirrel1 / NEPH1 Protein
- Known as:
- Human Kirrel1 / NEPH1 Protein
- Catalog number:
- KI1-H5225
- Product Quantity:
- 1mg
- Category:
- -
- Supplier:
- acrobyosystems
- Gene target:
- Human Kirrel1 / NEPH1 Protein
Related genes to: Human Kirrel1 / NEPH1 Protein
- Gene:
- KIRREL1 NIH gene
- Name:
- kirre like nephrin family adhesion molecule 1
- Previous symbol:
- KIRREL
- Synonyms:
- NEPH1
- Chromosome:
- 1q23.1
- Locus Type:
- gene with protein product
- Date approved:
- 2002-01-22
- Date modifiied:
- 2018-04-11
Related products to: Human Kirrel1 / NEPH1 Protein
Related articles to: Human Kirrel1 / NEPH1 Protein
- Gastric cancer (GC) is the fifth most common type worldwide, representing a public health problem. Among the genes related to this tumorigenesis, the family of matrix metalloproteinases (MMPs), essential regulators of the extracellular matrix (ECM), stand out for their involvement in the development and progression of GC. Therefore, we aimed to evaluate MMP gene expression variation, its relationship with clinicopathological factors and its transcriptome-wide associations. To this end, RNAseq, correlation network, and biological pathway enrichment analyses were performed on tumor samples from GC and peritumoral samples from patients treated at a reference center in the Northern region of Brazil. Among the 22 investigated MMPs, seven genes (MMP2, MMP3, MMP10, MMP12, MMP14, MMP15, and MMP16) were upregulated in cancer, while MMP8 was downregulated. Increased expression of seven of the eight differentially expressed MMPs was found in early stages of the disease compared to Tumor, Node, Metastasis (TNM) stage IV. MMP16 showed higher expression in the diffuse-type gastric adenocarcinoma. An increased expression of MMP10 was observed in the EBV/TCGA group. A significant reduction in survival was noticed in those patients with lower expression of MMP8, MMP12, and MMP14. Transcriptomic correlation analyses demonstrated that differentially expressed MMPs interact with genes likely involved in cell adhesion, ECM organization, and immune response, such as COL1A2, CDH11, KIRREL1, PPP1R14D, CEACAM8, ZNF423, and PRRX1. The enrichment of biological pathways suggests involvement in processes such as ECM organization, collagen and proteoglycan degradation, suggesting that these genes possibly are involved in carcinogenic dynamics, supporting the role of MMPs in tumor ECM reorganization. - Source: PubMed
Publication date: 2026/02/23
Bastos Aline CostaKhayat André SalimMoraes Emanuele Raimunda LouzadaTavares Ágatha Tereza MirandaMourão Ronald Matheus da SilvaMoreira Fabiano CordeiroCasseb Samir Mansour MoraesDemachki SamiaIshak GeraldoBarra Williams FernandesBurbano Rommel Mario Rodríguezde Assumpção Paulo Pimentel - Colorectal cancer (CRC) is a leading cause of cancer-related mortality worldwide, yet the functional impact of noncoding variants on enhancer activity remains largely unexplored. In this study, we adapted and applied two high-throughput techniques, SNP-STARR-seq and Methyl-STARR-seq, to systematically evaluate the influence of 30,790 noncoding SNPs and more than 134,000 CpG sites on enhancer activity in primary and metastatic CRC cells. We identified 922 SNPs and 487 CpG-containing elements modulating enhancer activity in primary cells and found 3136 SNPs and 3008 methylation-sensitive elements with metastasis-specific regulatory effects. Multi-omics integration linked these variants to target genes, and CRISPR editing validated their roles in driving tumorigenic and metastatic phenotypes. Furthermore, we identified two CRC-specific hypermethylated loci, cg08640619 and cg25982657, as exceptional tissue-based early detection biomarkers (AUC > 0.96). Mechanistically, hypermethylation at cg08640619 disrupts RUNX2 binding, leading to inhibition of and . Our study provides a comprehensive platform for understanding how genetic and epigenetic variants disrupt transcriptional programs in CRC, offering insights into disease susceptibility and identifying potential diagnostic and therapeutic targets. - Source: PubMed
Publication date: 2026/02/20
Chen ErfeiYang QiqiDai HaoyangChen YixinZhang YihuiWang QianglongHou RongrongChen MingWang JieXie QianwenSun WenjuNing Yong-QiangFan LigangYan Jian - - Source: PubMed
Publication date: 2025/11/19
Shirai YokoMiura KenichiroHorita ShigeruIto NaokoTaneda SekikoKoike JunkiHonda KazuhoHattori Motoshi - Podocytopathies are glomerular diseases caused by initial podocyte injury or dysfunction that lead to proteinuria and often nephrotic syndrome. The term encompasses characteristic histological patterns, most commonly focal segmental glomerulosclerosis, minimal changes, membranous nephropathy, diffuse mesangial sclerosis and collapsing glomerulopathy. However, proteinuria of glomerular origin is frequently managed without biopsy; importantly, when the protein loss is mostly albumin, it is a direct readout of podocyte injury and a strong predictor of cardiovascular events, kidney failure and reduced survival. Patients present with oedema and volume disturbances and are at risk of thromboembolism, serious infections and progressive kidney dysfunction. Aetiologically, podocytopathies arise from autoimmune, genetic, mechanical (hyperfiltration), infectious, toxic or monoclonal mechanisms, which may coexist and vary by age; this unifying, mechanism-based view bridges the historically divergent paediatric (response-based) and adult (histology-based) classifications. Diagnosis integrates clinical features with emerging serology for podocyte-directed autoantibodies, targeted genetic testing and kidney biopsy when required. Diagnostic workup has to delineate the causes of podocyte dysfunction. Management combines supportive care with aetiology-guided therapy aimed at minimizing steroid exposure and preventing relapses. Current advances in the field and their effects on diagnostic and therapeutic algorithms open the path towards personalized use of traditional treatments and newly available drugs, which should improve outcomes and quality of life for patients with podocytopathies. - Source: PubMed
Publication date: 2025/12/11
Romagnani PaolaTang Sydney C WWeins AstridHuber Tobias BOsafo CharlotteAnders Hans-Joachim - Dermatofibroma/fibrous histiocytoma is a common tumor of the dermis, composed of myofibroblasts, dendrocytes, and macrophages with characteristic entrapment of dermal collagen fibers at the periphery of the tumor. Various subtypes of dermatofibroma, including cellular, aneurysmal, and atypical dermatofibroma, are associated with an increased risk of recurrence, especially with incomplete excision. Two cases of benign fibrous histiocytoma with recurrence and metastasis are described. Patient 1 had a cellular fibrous histiocytoma with KIRREL1::PRKCD fusion presenting as a superficial and deep soft tissue mass involving the scapula and lateral clavicle. Patient 1 subsequently developed metastasis to the chest wall and thigh. Patient 2 had a recurrent aneurysmal fibrous histiocytoma with LAMTOR1::PRKCD fusion presenting as a large shoulder mass with invasion of the clavicle and lymph node metastasis. Patient 2 developed rapid local recurrence and PET-avid pulmonary nodules, radiologically consistent with metastasis. Fibrous histiocytoma is typically a morphologically benign neoplasm that only rarely exhibits clinically aggressive behavior with multiple recurrences and metastases. Although uncommon, recognition of this entity is important so that pathologists and sarcoma oncologists can ensure accurate diagnosis, multidisciplinary management, and appropriate clinical surveillance. In addition, complex chromosomal abnormalities may serve as useful indicators of fibrous histiocytoma with the risk of aggressive clinical behavior. - Source: PubMed
Wang Charlotte IGiersch Anne BCalderon Santiago LozanoChoy EdwinGiap Fantine NHung Yin PNielsen G PeturChebib Ivan