Ask about this productRelated genes to: GABRP antibody
- Gene:
- GABRP NIH gene
- Name:
- gamma-aminobutyric acid type A receptor pi subunit
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 5q35.1
- Locus Type:
- gene with protein product
- Date approved:
- 1997-06-18
- Date modifiied:
- 2016-02-04
Related products to: GABRP antibody
Related articles to: GABRP antibody
- Essential tremor (ET) is the most common adult-onset movement disorder, yet its genetic basis remains incompletely understood. Although familial aggregation is well recognized, ET shows marked genetic heterogeneity, with many rare and family-specific variants reported. - Source: PubMed
Publication date: 2026/02/25
Aghayev AgharzaErdoğdu MeldaAydemir DuyguBagirova GulendamAslanger Ayca DilrubaCankay Tugba UyarAkcakaya Nihan HandeUyguner Zehra Oya - Cancer cell characteristics are determined by gene expression, influenced by genomic, epigenetic, and transcriptional modifications. Genomic rearrangements and transcriptional splicing can result in the formation of fusion genes. BCR-ABL1 is an established fusion gene employed as a biomarker in leukemia. A single gene can amalgamate with several other genes and may impact cellular fate. Ethnicity-specific variants of fusion genes have been identified, such as the TMPRSS2-ERG variation observed in prostate malignancies among African-American, Caucasian, and Japanese populations in research studies. Next-generation sequencing has provided a new method for predicting genomic and transcriptomic changes. We aim to identify fusion genes in the Indian population using cancer samples to enhance diagnostic outcomes. This study performed a meta-analysis of tumor-specific RNA sequencing data for liver, tongue, and ovarian cancers, which are available online. It identified known fusion genes, including TRO-MAGED2, KRT14-S100A9, RNASE10-CD38, ACTN4-ACTN1, RGPD1-RANBP2, CTSC-RAB38, C15orf57-CBX3, AMBRA1-CKAP5, ATP2B3-ATP2B4, CNKSR3-IPCEF1, E2F4-RPL14, and MZT2A-MZT2B, along with 101 novel fusion genes. Novel fusion genes GABRP_SCGB3A2 and WWOX_FUT1 were identified in all three tumor tissues. GABRP acts as a tumor inducer, whereas SCGB3A2 functions as a tumor suppressor. WWOX2 serves as a tumor suppressor, whereas FUT1 functions as a promoter of malignancy. The interplay between tumor inducers and suppressors may serve as a survival mechanism for cancer cells, a subject that has received limited research attention. - Source: PubMed
Publication date: 2026/02/09
Yadav RahulKhan HafsaSingh PoonamKumar PramodKumar Singhal Dinesh - Emerging evidence supports a strong bidirectional relationship between the gastrointestinal system and the central nervous system, referred to as the gut-brain axis. This axis has been proposed to be of particular importance in the context of neurodevelopmental disorders including autism spectrum disorder (ASD). While neurotransmitter dysregulation and synaptic dysfunction have been well documented in the brains of individuals with ASD, less is known about how these molecular changes manifest in the gut METHODS: In this study, we analyzed RNA signatures in biopsies from the ileum and colon of children with chronic GI symptoms, either with (cases) or without (controls) an autism diagnosis. - Source: PubMed
Publication date: 2026/01/08
Tingler Anna MFiguereo Yosauri FernandezEngevik Kristen AWeis Victoria GKrigsman ArthurEngevik Melinda AWalker Stephen J - Gastric cancer (GC) presents striking survival disparities: 85-100% for early-stage versus only 5-20% for advanced disease. Glucose metabolic reprogramming (GMS)-a cancer hallmark linked to the Warburg effect-fuels tumor progression and immune evasion via lactate. This study uses multi-omics data to delineate GMS heterogeneity and its clinical relevance in GC. Single-cell, spatial, and bulk transcriptomic data were integrated. BayesPrism deconvoluted bulk data, CytoTRACE2, CellChat, and NicheNet analyzed cell trajectories, communication, and ligand-receptor regulation, respectively. MOVICS performed multi-omics (mRNA, methylation, mutation, and lncRNA) clustering of TCGA-STAD. Mime1 integrated machine learning to build a prognostic model based on GMS-related genes and CS2/TOP2A features. Differential expression and functional enrichment explored mechanisms. Verification of expression differences in key genes using qPCR. In gastric cancer research, GMS scores exhibit significant enrichment. Single-cell analysis identified a TOP2A epithelial subtype characterized by high GMS scores, strong stemness, elevated proliferative activity, and poor prognosis. Further analysis suggests this subtype may be regulated by the EFNB2-EPHB2 signaling pathway originating from GABRP⁺ cells, activating cell cycle pathways via ligands such as CKLF. Multi-omics clustering defined the CS2 subtype, exhibiting enrichment in GMS score, cell cycle, and glucose metabolism pathways and correlating with poor prognosis. A prognostic model constructed using eight genes demonstrated robust predictive performance across TCGA and multiple independent cohorts, with high-risk patients potentially exhibiting 'cold tumor' characteristics. Among these, the core gene SH3BP1 was identified as a potential tumor suppressor (HR = 0.87), whose overexpression correlated with lower tumor stage and enhanced CD8⁺ T cell killing and infiltration. This study is the first to systematically characterize GMS heterogeneity in GC via integrated multi-omics. It identifies the aggressive TOP2A⁺ subtype, establishes the clinically relevant CS2 classification, and develops a robust 8-gene prognostic model-useful for stratifying patients with immunologically "cold" tumors. Critically, tumor suppressor SH3BP1 (a key regulator) correlates with reduced tumor progression and enhanced CD8 T cell anti-tumor immunity when highly expressed. These findings underscore that SH3BP1 may represent a promising therapeutic target for precise intervention in GMS-immune interactions in GC. - Source: PubMed
Publication date: 2025/11/18
Liang LiuJianming CaoXiaoan QiJinxi Lu - Immune checkpoint inhibitors (ICIs) have significantly improved survival rates for patients with metastatic melanoma. However, these treatments can lead to immune-related adverse events (irAEs), including hepatitis. This exploratory study sought to identify tumour single-nucleotide polymorphisms (SNPs) associated with the risk of ICI-induced hepatitis in melanoma patients. The study cohort comprised 69 patients with malignant melanoma treated with ICIs at several hospitals in Madrid, Spain. DNA was extracted from formalin-fixed paraffin-embedded tumour biopsies and SNP genotyping was conducted using a MassARRAY platform. Significant associations were found between hepatitis risk and 4 of the 20 SNPs examined. A possible risk effect was shown for the variant SNP alleles rs11743438 and rs11743735. Among patients homozygous for these variant alleles (v/v), significantly higher proportions developed hepatitis, 75% and 71.4%, respectively, compared to 32.8% and 21.4, respectively, not developing hepatitis ( = 0.046; = 0.013). However, in the same genotype group comparisons, the SNP rs4778080 seemed to have a protective effect, as 100% of patients who developed hepatitis were not in the v/v group for this allele ( = 0.043). Additionally, in genotype group comparisons wt/wt versus wt/v + v/v, the SNP rs55733913 was also associated with a higher risk of ICI-induced hepatitis: 66.7% of patients with hepatitis versus 22.8% without hepatitis in genotype group wt/v + v/v ( = 0.041). This exploratory study identifies candidate tumour SNPs as possible biomarkers to predict the risk of ICI-induced hepatitis, warranting their validation in larger patient cohorts. - Source: PubMed
Publication date: 2025/09/25
Rodríguez-Piñas Jose MaríaRomero-Lorca AliciaGaibar MariaNovillo ApoloniaRubio MargaritaMalón DiegoAntón-Pascual BeatrizCamacho Francisca InmaculadaCavanagh MercedesLuján David RicardoMartín Ana ManuelaKhedaoui RadiaMoreno DianaPinedo FernandoBoiza MacarenaGarcía-Adrián SilviaGómez PatriciaMarrupe DavidFernández-Santander Ana