Ask about this productRelated genes to: RUFY1 antibody
- Gene:
- RUFY1 NIH gene
- Name:
- RUN and FYVE domain containing 1
- Previous symbol:
- -
- Synonyms:
- FLJ22251, ZFYVE12, RABIP4
- Chromosome:
- 5q35.3
- Locus Type:
- gene with protein product
- Date approved:
- 2002-11-26
- Date modifiied:
- 2015-08-25
Related products to: RUFY1 antibody
Related articles to: RUFY1 antibody
- DNA methylation may contribute to a worsening in breast cancer (BC). - Source: PubMed
Publication date: 2025/09/26
Polidoro SilviaJohansson HarrietCugliari GiovanniGuerrieri-Gonzaga AlianaAristarco ValentinaMacis DeboraCalvello MariarosariaMarabelli MonicaFeroce IreneSerrano DavideCagnacci SaraZanzottera CristinaFava FrancescaBellerba FedericaBonanni BernardoGandini Sara - Polychlorinated biphenyls (PCBs) are persistent organic pollutants known to have deleterious effects on child and adult development; however, less is known about the relationship between mother-newborn exposure levels. The objective of this study is to understand prenatal PCB exposure and its association with gene expression, using data from a cohort of exposed mothers and infants in eastern Slovakia. For 91 mothers and infants participating in this study, serum PCB concentrations were determined using gas chromatography and high-resolution mass spectrometry. Affymetrix microarray was performed utilizing Human Genome U133 Plus 2.0 gene chip. Statistical analysis compared the genetic expression levels of high versus low exposure mother-infant pairs (< 368.57 ng/g lipid vs. > 368.57 ng/g lipid). Statistical analysis results showed that mother's blood and cord blood PCB concentrations were highly correlated. Results showed that higher levels of PCB concentrations were associated with differential expressions of multiple genes. Global gene analysis identified significant dysregulation of genes XIST, EXOC6B, EIF1AY, and RPS4Y1. Gender-based gene analysis identified significant dysregulation of genes RUFY1, S100A8, ELOVL7, FXYD3, DEFB124, and DAB2. Further such investigations should be implemented to confirm these observations and more fully define the legacy of environmental PCB contamination. - Source: PubMed
Publication date: 2025/09/20
Saleem AmaraVolz AndrewMondal TanmoyLoffredo Christopher ATrnovec TomasMurinova Lubica PalkovicovaConka KamilDrobna BeataGhosh Somiranjan - Carboxylate side chains in aspartic and glutamic acids play critical roles in protein structure and function due to their polarity and negative charge. These acidic residues, which are abundant in high-value drug targets, represent attractive yet underexplored hotspots for covalent inhibitor discovery. In this study, we introduce -aryl aziridines as a systematically tunable, chemoselective scaffold for covalent targeting of carboxylates across the proteome. Using a library of -pyridinium aziridine-based fragments combined with chemoproteomics-enabled target deconvolution, we identified lead hits for aspartates and glutamates in proteins such as mitochondrial carrier homologue 2 (MTCH2), RUN and FYVE domain-containing protein 1 (RUFY1), and delta(24)-sterol reductase (DHCR24). Modular synthetic logic enabled fragment evolution via Ni-catalyzed cross-coupling to access -aryl aziridines with enhanced affinities for MTCH2 and RUFY1. Notably, -aryl aziridine selectively modified RUFY1 at E502, disrupting its interactions within the endosomal trafficking network and impairing receptor recycling. This work establishes -aryl aziridines as versatile carboxylate-targeting covalent inhibitor scaffolds, broadening the scope of covalent ligand discovery. - Source: PubMed
Publication date: 2025/05/09
Qiu NanTan HaoPechalrieu DanyAbegg DanielFnu DeepanshuPowers David CAdibekian Alexander - and fusions are targetable mutations that occur in a subset of patients with non-small cell lung cancer (NSCLC). and have been understood to be independent oncogenic drivers which do not co-occur with other common tyrosine kinase receptor mutations except in the acquired resistance setting. Here we present a case of a patient with stage IV fusion NSCLC discovered initially with RNA next generation sequencing (NGS) who acquired resistance to lorlatinib after 6 months on therapy through a novel fusion, detected only through RNA NGS. Combination therapy targeting RET and ROS1 using pralsetinib and lorlatinib achieved a partial response with limited durability of only four months. This is the first reported case of a fusion as a potential mechanism of resistance to lorlatinib, it identifies a novel fusion partner, and it emphasizes the importance of testing for acquired resistance mutations with both DNA and RNA at the time of progression in patients with targetable oncogenic drivers. - Source: PubMed
Publication date: 2025/02/05
Wu Jenny LIams Wade T - Tinnitus, the perception of sound without any external sound source, is a prevalent hearing health concern. Mounting evidence suggests that a confluence of genetic, environmental, and lifestyle factors can influence the pathogenesis of tinnitus. We hypothesized that alteration in DNA methylation, an epigenetic modification that occurs at cytosines of cytosine-phosphate-guanine (CpG) dinucleotide sites, where a methyl group from S-adenyl methionine gets transferred to the fifth carbon of the cytosine, could contribute to tinnitus. DNA methylation patterns are tissue-specific, but the tissues involved in tinnitus are not easily accessible in humans. This pilot study used saliva as a surrogate tissue to identify differentially methylated CpG regions (DMRs) associated with tinnitus. The study was conducted on healthy young adults reporting bilateral continuous chronic tinnitus to limit the influence of age-related confounding factors and health-related comorbidities. - Source: PubMed
Publication date: 2024/08/15
Bhatt Ishan SunilkumarGaray Juan Antonio RaygozaTorkamani AliDias Raquel