Ask about this productRelated genes to: PUF60 antibody
- Gene:
- PUF60 NIH gene
- Name:
- poly(U) binding splicing factor 60
- Previous symbol:
- -
- Synonyms:
- FIR, SIAHBP1, RoBPI
- Chromosome:
- 8q24.3
- Locus Type:
- gene with protein product
- Date approved:
- 2007-07-27
- Date modifiied:
- 2016-06-22
Related products to: PUF60 antibody
Related articles to: PUF60 antibody
- To evaluate the clinical performance of particle-based multi-analyte technology (PMAT) for the detection of systemic sclerosis (SSc)-associated autoantibodies and to explore correlations between antibody profiles and disease manifestations. - Source: PubMed
Publication date: 2026/04/20
Pérez-Isidro AlbertLledó-Ibañez Gema-MariaPrieto-González SergioHernández-González FernandaAndalucia CarmenAure Mary AnnMules CarlosDe Moner NoemiViñas OdetteEspinosa GerardRuiz-Ortiz Estíbaliz - Earlier research observed the effects of plasma proteins on ischemic stroke (IS). This Mendelian randomization (MR), in vivo study additionally assesses the associations of localized populations of plasma proteins with IS to further confirm the causality and explore drug targets. - Source: PubMed
Publication date: 2026/03/17
Ren HaoxuDing YingyueWang RuonanLi JinjianYang ChenganWang XuZhao Dexi - Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease, classically characterized by right ventricular outflow tract obstruction, ventricular septal defect, overriding aorta, and right ventricular hypertrophy. Recent advances in molecular and genomic research indicate that TOF is part of a phenotypic continuum encompassing Trilogy, Tetralogy, and Pentalogy of Fallot, in which the variability of anatomical presentation reflects shared genetic and epigenetic mechanisms with highly variable penetrance and expressivity. Variants in , , , , and highlight key pathways in conotruncal development and endothelial-mesenchymal transition, yet these well-known genes explain only a fraction of the genetic landscape. Emerging studies have identified additional candidate genes and networks involved in cardiac morphogenesis, including transcriptional regulators, signaling mediators, chromatin-remodeling factors, and splicing-associated genes such as PUF60 and DVL3. Epigenetic mechanisms, including DNA methylation, histone modifications, and non-coding RNA expression, further modulate phenotypic expressivity and contribute to variability along the Trilogy-Tetralogy-Pentalogy spectrum. This review integrates current genomic and clinical evidence to provide a comprehensive overview of the molecular architecture of Fallot-type conotruncal malformations, emphasizing the interplay between genetic and epigenetic mechanisms, genotype-phenotype correlations, and implications for diagnosis, risk stratification, counseling, and personalized management in the era of precision cardiology. - Source: PubMed
Publication date: 2026/01/31
Gagliardi Maria FeliciaMicaglio EmanueleMicheletti AngeloBenedetti SaraNegura Diana GabrielaBevilacqua FrancescaGuglielmi GiuliaPasqualin GiuliaGiamberti AlessandroChessa Massimo - Disease-specific diversity in RNA transcripts stems from RNA splicing, ribosomal abnormalities, and other factors. However, the mechanisms underlying the regulation of rRNA expression in the nucleolus and mRNA expression in the cytoplasm during cancer and neuronal differentiation remain largely unknown. In this article, we review current knowledge and discuss the regulatory mechanisms of rRNA and mRNA expression in human diseases using the splicing model of PUF60 (poly(U) binding splicing factor 60)-also known as (), , , and (Gene ID: 22827). Noncoding RNAs, much like coding RNAs, have been found to be translated into proteins with significant physiological functions. Splicing is also involved in dominant ORF RNAs implicated in the expression of both noncoding and coding RNAs. Here, we analyze recent findings regarding gene splicing, ribosome formation, and the determination of selected ORFs (dominant ORFs) in a system modeled on FIR splicing in two databases (RefSeq and ENSEMBL). rRNA transcription affects ribosomes, whereas mRNA expression and splicing affect the intracellular proteome. Our objective is to develop efficient methods for identifying biomarkers for disease diagnosis and therapeutic targets. In the field of cancer treatment, therapeutic drugs targeting intracellular signaling have proven effective. - Source: PubMed
Publication date: 2026/01/08
Matsushita KazuyukiKitamura KouichiTanaka NobukoKobayashi SoheiSuenaga YusukeHoshino Tyuji - Primary Sjögren's disease (SjD) is a systemic autoimmune disorder where diagnosis relies on the presence of Ro/SS-A and La/SS-B autoantibodies. However, approximately one-third of SjD patients are seronegative, often requiring an invasive minor salivary gland biopsy, which can lead to significant diagnostic delays. This review comprehensively evaluates a wide array of novel autoantibodies to determine their potential as diagnostic biomarkers for Ro/SS-A-negative SjD patients. While many newly identified autoantibodies, such as those targeting ASCA, TRIM38, and PUF60, were found to be strongly associated with Ro/SS-A positivity and thus offer limited utility for seronegative diagnosis, several others show significant promise. Notably, autoantibodies targeting functional proteins like the muscarinic M3 receptor (anti-M3R) have demonstrated high diagnostic sensitivity and specificity. Furthermore, systematic screenings have uncovered highly specific markers. One panel of 12 autoantigens (including GMNN, GRAMD1A, and NUP50) identified by human proteome arrays exhibited 54% sensitivity with 100% specificity for Ro/SS-A-negative SjD. Another validated panel combining immunoglobulin G autoantibodies against FNBP4, SNRPC, CCL4, M3R, and KDM6B achieved 46% sensitivity with 95% specificity. Other individual markers, such as anti-NA14 and anti-calponin-3, also show potential for identifying seronegative SjD subsets. In conclusion, a growing body of evidence supports the clinical utility of several novel autoantibodies in diagnosing Ro/SS-A-negative SjD. The integration of these biomarkers into clinical practice could significantly improve early and accurate diagnosis, reduce the reliance on invasive procedures, and potentially aid in patient stratification for targeted therapies. Further validation of these markers in large cohorts is warranted. - Source: PubMed
Publication date: 2026/01/14
Elsaghir AlaaWitte Torsten