Ask about this productRelated genes to: PPFIBP1 antibody
- Gene:
- PPFIBP1 NIH gene
- Name:
- PPFIA binding protein 1
- Previous symbol:
- -
- Synonyms:
- L2, hSGT2, hSgt2p, SGT2
- Chromosome:
- 12p11.23-p11.22
- Locus Type:
- gene with protein product
- Date approved:
- 1998-10-23
- Date modifiied:
- 2018-02-13
Related products to: PPFIBP1 antibody
Related articles to: PPFIBP1 antibody
- Pulmonary spindle cell tumors are aggressive neoplasms with limited systemic treatment options, although a subset may harbor actionable genomic alterations. Because conventional fusion assays may miss rearrangements involving atypical or previously uncharacterized partners, we systematically investigated oncogenic fusions in pulmonary spindle cell tumors using anchored multiplex PCR-based targeted RNA sequencing. Formalin-fixed, paraffin-embedded tumor samples from 11 surgically resected pulmonary spindle cell tumors, excluding metastatic sarcomas, were analyzed using the FusionPlex Sarcoma panel supplemented with custom primers for RET, NTRK1, NTRK2, and NRG1. Two tumors (18.2%) harbored ALK fusions, identified as PPFIBP1::ALK and SYCL3::ALK. Both tumors showed positive ALK immunohistochemical staining. Histologically, the PPFIBP1::ALK-positive tumor was composed of spindle-shaped cells with a layered architecture, whereas the SYCL3::ALK-positive tumor showed relatively round cells arranged in clusters with collagenous stroma, highlighting the morphologic heterogeneity of ALK-rearranged pulmonary spindle cell tumors. These findings expand the molecular spectrum of pulmonary spindle cell tumors and identify rare ALK fusion partners in this setting. Our results support the incorporation of ALK immunohistochemistry as a screening tool and demonstrate the utility of anchored multiplex PCR-based RNA sequencing for the detection of therapeutically relevant fusions, particularly those with uncommon partners. This integrated approach may refine the diagnosis and support consideration of ALK-directed therapy in these rare tumors. - Source: PubMed
Masago KatsuhiroSeto KatsutoshiSasaki EiichiFujita YasukoFujita ShiroHorio YoshitsuguMatsushita HirokazuKuroda Hiroaki - Plaque-like CD34-positive dermal fibroma (PDF), previously termed medallion-like dermal dendrocyte hamartoma, is a rare CD34-positive superficial spindle cell fibroblastic tumour that may closely mimic dermatofibrosarcoma protuberans. Recent studies have identified recurrent kinase gene fusions in a subset of congenital and paediatric CD34-positive plaque-like superficial spindle cell tumours with overlapping clinicopathologic features, highlighting an emerging molecular framework for this group. However, the molecular spectrum of lesions meeting classic histopathologic criteria for PDF remains an area of active investigation. - Source: PubMed
Publication date: 2026/02/26
Cloutier Jeffrey MLee MichaelYeh IweiJour GeorgePanse Gauri - Interstitial deletions of the short arm of chromosome 12 are rare, and very little is known about the potential genetic basis of the most common phenotypic presentations to date described in the literature. - Source: PubMed
Publication date: 2026/01/19
Privitera FlaviaPagano StefanoCipriano LorenzoNutile GiuliaMilone AnnaritaSantorelli Filippo Maria - Jiangxi indigenous pigs are a vital genetic resource in China, known for their unique coat colors, high-quality meat, and resilience to environmental stressors. However, their genetic diversity is increasingly threatened by habitat loss, African swine fever, and the introduction of exotic breeds. This study systematically analyzed the population structure, genetic diversity, and selective sweeps in 342 individuals from eight Jiangxi pig breeds using whole-genome sequencing. Population structure analysis revealed distinct genetic clusters for each breed, with some populations, such as Gandong Black, Ganzhongnan Spotted and Hang pigs, showing internal instability and low genetic diversity in breeds like Leping Spotted and Yushan Black (YS) pigs. Selective sweep analysis identified key genes associated with economically important traits: EDNRB and DKK1 were strongly linked to coat color variation, while FGF2 was implicated in white abdominal patterns. For meat quality, PPFIBP1 and SERPINE2 were highlighted in YS pigs, influencing muscle development, fat metabolism, and tenderness. These findings provide crucial insights into the genetic basis of economically significant traits, emphasizing the need for tailored conservation strategies. The study establishes a genomic foundation for sustainable breeding and conservation efforts to safeguard Jiangxi indigenous pigs. - Source: PubMed
Publication date: 2025/12/20
Ji HuayuanWang YananZhou QuanyongWan MingchunDing NengshuiZhou HuihuaTan MeifangZou ZhihengChen HaoLiu Chenlong - Idiopathic pulmonary arterial hypertension (IPAH) is a subtype of pulmonary arterial hypertension and impacts both children and adults. IPAH has overall poor survival, highlighting the importance of understanding pathogenesis. We aimed to identify differentially expressed genes in the lungs of patients with IPAH to shed light on its complex genetic background. - Source: PubMed
Publication date: 2025/12/04
Huang Andy PVoskamp SarahEbadi Ameneh ALiedel Jennifer LNelson Jennifer SKuruvilla Joseph