Ask about this productRelated genes to: PSTPIP1 antibody
- Gene:
- PSTPIP1 NIH gene
- Name:
- proline-serine-threonine phosphatase interacting protein 1
- Previous symbol:
- -
- Synonyms:
- PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS
- Chromosome:
- 15q24.3
- Locus Type:
- gene with protein product
- Date approved:
- 1999-01-12
- Date modifiied:
- 2019-04-23
Related products to: PSTPIP1 antibody
Related articles to: PSTPIP1 antibody
- Mutations in the gene PSTPIP1 may cause several different autoinflammatory syndromes, but the mechanisms by which distinct PSTPIP1 mutations lead to these differing phenotypes are not fully understood. The two best characterized autoinflammatory conditions resulting from PSTPIP1 mutation are pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome and PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome. Here, we report a novel gain-of-function PSTPIP1 mutation (p.N236K) causing PAMI syndrome in a patient with systemic autoinflammation and severe neutropenia. This mutant form of PSTPIP1 shows increased binding to pyrin and leads to heightened inflammasome formation, relative to WT PSTPIP1. We also identify a transcriptional signature in blood from PAMI patients suggestive of enhanced T cell activation and altered neutrophil survival and/or function. Further research on PSTPIP1-related autoinflammatory conditions is needed to more deeply understand the genetic and immunological drivers of disease and contribute to improving patient outcomes. - Source: PubMed
Publication date: 2026/01/23
Cook SarahNomula KranthiCross Claire EGil Hwi MChoi Joseph MKaviany SaaraConnelly James AChang Christopher CMarkle Janet G - Familial Mediterranean Fever (FMF) is traditionally linked to mutations. However, many patients remain genetically unexplained after routine screening. This study evaluates the utility of Next-Generation Sequencing (NGS) in patients with negative or heterozygous results from fragment analysis. - Source: PubMed
Publication date: 2026/04/19
Karaer DeryaDurak TanerAydin Leyla RezanTürel SametTokgün Pervin ElvanKilbaş GülşahAyduran SemraTokgün OnurYüksel SelçukKaraer Kadri - Systemic lupus erythematosus (SLE) is a chronic, multi-organ autoimmune disease characterised by a highly heterogeneous presentation. Specific genetic variations predispose patients to the disease, and rare monogenic forms caused by single-gene variations have been identified in a small percentage of patients, often with early disease onset. In this study, we used exome sequencing in a large cohort of patient with juvenile-onset SLE to gain insight into the genetic basis of juvenile SLE (jSLE). - Source: PubMed
Publication date: 2026/04/01
Tusseau MaudKhaldi-Plassart SamiraLabalme AudreyMathieu Anne-LaureRiller QuentinMolitor CorentinSimonet ThomasViel SebastienGaboriaud ChristineThielens NicoleHeiser LionelChopin EmilieRouvet IsabelleFabien NicoleGoncalves DavidFremeaux-Bacchi VéroniqueEl-Sissy CarinePottier NicolasLarrue RomainRanchin BrunoLaurent AudreyFouillet-Desjonqueres MarineJouret MaurineMekinian ArsèneYamashita MotoiMorio TomohiroHachulla EricMelki IsabelleKone-Paut IsabelleBallot ClaireReumaux HeloisePillet PascalHarambat JeromeRichez ChristopheRicher OlivierHatchuel YvesLouillet FerielleLega Jean-ChristopheDurieu IsabelleWelfringer-Morin AnnePicard CapucineMessadi WassilaSarrot-Reynauld FrançoiseSanlaville DamienBader-Meunier BrigitteWalzer ThierryLesca GaëtanRieux-Laucat FrédéricBelot Alexandre - Pediatric sleep-disordered breathing (SDB) is influenced by craniofacial morphology and host susceptibility. Evidence integrating cephalometric airway features with targeted genetic variation in symptomatic skeletal Class II children remains limited. We explored whether children with skeletal Class II mandibular retrognathia and SDB symptoms harbor selected genetic variants and whether carriers show distinct cephalometric airway characteristics. This cross-sectional study included 48 children with skeletal Class II malocclusion, mandibular retrognathia, and snoring/mouth-breathing symptoms. Craniofacial and airway parameters were assessed on lateral cephalograms. SDB burden was evaluated by a baseline home sleep study (respiratory event index, REI). Targeted sequencing screened TNFRSF1A, PSTPIP1, SLC6A4 (5HTT), ACE, APOE, IRS1, and additionally PHOX2B and PMP22. Exploratory group comparisons used Student's -test. Variants were identified in 13/48 participants (27%) in TNFRSF1A, PSTPIP1, SLC6A4, ACE, APOE, and IRS1; none were detected in PHOX2B or PMP22. C3-H was higher in variant carriers (39.90 ± 6.40 vs. 36.48 ± 3.95 mm; < 0.05). HH1 (perpendicular distance from the hyoid bone to the C3-RGN line) was higher but not significant (16.99 ± 7.58 vs. 14.61 ± 5.25 mm; > 0.05). In this clinically screened pediatric skeletal Class II cohort with SDB symptoms, selected genetic variants co-occurred with specific hyoid-cervical cephalometric features. Given the cross-sectional design, absence of a control group, and small number of carriers, findings are exploratory and require replication in larger, controlled cohorts with standardized phenotyping. - Source: PubMed
Publication date: 2026/02/27
Karaca Kurt NazlıAlgul HilalCeylaner SerdarCeylaner GulayAltug Ayse TubaToygar Memikoglu Tulin Ufuk - Sharp declines in temperature pose a significant risk for mass mortality events in the Chinese soft-shelled turtle (). To assess the effects of acute cold stress on intestinal health, turtles were exposed to temperatures of 28 °C (control), 14 °C, and 7 °C for 1, 2, 4, 8, and 16 days. The results showed that acute cold stress at 14 °C and 7 °C induced time-dependent alterations in intestinal morphology and histopathology. The damage was more severe at 7 °C, characterized by inflammatory cell infiltration, lymphoid hyperplasia, and extensive detachment and necrosis across the villi, muscle layer, and submucosa. 16S rDNA sequencing revealed significant shifts in intestinal microbiota composition in the 7 °C group, dominated by and . Transcriptomic analysis identified differentially expressed genes (DEGs) that respond to acute cold stress and are involved in the Toll-like receptor signaling pathway (, , , and ), the NOD-like receptor signaling pathway (, , , , , , and ), apoptosis (, , , , , , , , , , and ), and the p53 signaling pathway (, , , , , , , and ). Metabolomic profiling highlighted differentially expressed metabolites (DEMs) that cope with acute cold stress, such as organic acids (oxoglutaric acid, L-aspartic acid, fumaric acid, DL-malic acid, and citric acid) and amino acids (including L-lysine, L-homoserine, and allysine). The integrated analysis of DEGs and DEMs underscored three key pathways modulated by acute cold stress: linoleic acid metabolism, neuroactive ligand-receptor interaction, and the FoxO signaling pathway. This study provides a comprehensive evaluation of intestinal health in Chinese soft-shelled turtles under acute cold stress and elucidates the underlying mechanisms. - Source: PubMed
Publication date: 2026/01/14
Ma XiaonaShi QingDong ZhenChen ChenZhu JunxianLiu XiaoliHong XiaoyouWei ChengqingZhu XinpingSong WeijiaLi WeiJi Liqin