PLCG2 (phospho-Tyr753) Antibody
- Known as:
- PLCG2 (phosphorilated-Tyr753) Antibody
- Catalog number:
- abx000245
- Product Quantity:
- EUR
- Category:
- -
- Supplier:
- Abbexa
- Gene target:
- PLCG2 (phospho-Tyr753) Antibody
Related genes to: PLCG2 (phospho-Tyr753) Antibody
- Gene:
- PLCG2 NIH gene
- Name:
- phospholipase C gamma 2
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 16q24.1
- Locus Type:
- gene with protein product
- Date approved:
- 1994-05-16
- Date modifiied:
- 2019-04-23
Related products to: PLCG2 (phospho-Tyr753) Antibody
Related articles to: PLCG2 (phospho-Tyr753) Antibody
- We developed a high-content screening to investigate how Alzheimer's disease (AD) genetic risk factors may affect synaptic mechanisms in rat primary neuronal cultures. Of the target genes identified, we found that Plcg2 downregulation in mouse dentate gyrus neurons consistently disrupted dendritic morphology and synaptic function. In human neuronal cultures (hNCs), PLCG2 downregulation also impaired synaptic function and increased amyloid-β (Aβ) levels and Tau phosphorylation. Very rare PLCG2 loss-of-function (LoF) variants were associated with a tenfold increased AD risk. PLCG2 LoF carriers show low mRNA/protein PLCG2/PLCγ2 levels and the R953* LoF mutation compromised synaptic function and increased AD hallmarks in hNCs. Single-nucleus RNA sequencing analyses confirmed that the downregulation of PLCG2 impacted pathways related to synaptic and neuronal functions, potentially through neurexins in neurons. In conclusion, PLCγ2 downregulation could increase AD risk by impairing synaptic functions and by increasing Aβ levels and Tau phosphorylation in neurons. - Source: PubMed
Publication date: 2026/08/14
Coulon AudreyRabiller FlorianTakalo MariRoy AvishekPelletier AlexandreMartiskainen HennaSiedlecki-Wullich DoloresLannette-Weimann NinaMajerníková NaďaGrenon ArthurGao VanceErhardt AnaëlPernodet AnneLemaire MorganeLimoge FlorianeWalle PaulineMendes TiagoGuyot KarineLemeu CéliaCarvalho Lukas-IohanMelo de Farias Ana RaquelHulsman MarcNajdek ChloéFreire-Regatillo AlejandraSaha OrthisAmouyel PhilippeCharbonnier CamilleDeleuze Jean-FrançoisDols-Icardo OrioJeskanen HeliWillman Roosa-MariaKuulasmaa TeemuKurki MitjaHardy JohnHeikkinen SamiHolstege HenneMäkinen PetraNicolas GaëlMead SimonWagner MichaelRamirez AlfredoRauramaa TuomasPalotie AarnoSims RebeccaSoininen Hilkkavan Swieten JohnWilliams JulieBellenguez CélineGelle CarlaLambert ErwanCosta Marcos RTcw JuliaGlaab EnricoAyral Anne-MarieDemiautte FlorieGrenier-Boley BenjaminMuntaner ManonEberlé DelphineDeforges SéverineHaas Joel TKilinc DevrimMulle ChristopheChapuis JulienHiltunen MikkoDumont JulieLambert Jean-Charles - Advances in genetic analysis techniques and strategies have enabled the identification of rare novel genetic entities in children's interstitial lung disease (chILD). - Source: PubMed
Tabakçı Satı ÖzkanAkyan Soydaş Şule SelinTuğcu Gökçen DilşaCinel GüzinSağdıç Ayşe CerenÖzçelik UğurCan Oksay SinemKorkmaz ÇiğdemZirek FazılcanKekeç HandanGülen FigenHangül MelihÖzsezen BesteAltıntaş Derya UfukÇağlar Hanife TuğçeBaşaran A ErdemUyan Zeynep SedaÖzdemir AliRamaslı Gürsoy TuğbaYalçın EbruEmiralioğlu NagehanGirit SaniyeKılınç Ayşe AyzıtÇobanoğlu NazanŞişmanlar Eyüboğlu TuğbaPekcan SevgiGökdemir YaseminOğuz BernaOrhan DiclehanCeylan Ahmet CevdetKiper Nural - Understanding sex-dependent differences in disease risk, manifestation, and treatment response is essential for precision medicine. While funding agencies now mandate consideration of Sex as a Biological Variable (SABV), existing bioinformatics tools lack systematic approaches to characterize sex-related molecular mechanisms. Current practices frequently treat sex as a confounding variable, which may obscure important biological differences such as sex-specific alterations, sex-dimorphic changes (opposite effects between sexes), and sex-modulated changes (different effect magnitudes). We present XYomics, an open-source R package for systematic analysis of sex-dependent alterations in biomedical omics data. The software identifies sex-specific, sex-dimorphic, and sex-modulated changes at both individual feature and systems levels. XYomics implements dual analytical modes: sex-disease interaction term modeling for adequately powered datasets and sex-stratified analysis with robust non-significance filtering for smaller sample sizes. Using single-cell RNA sequencing data from Alzheimer's disease patients, we demonstrate how XYomics identifies sex-dimorphic genes largely undetected by standard sex-averaged analyses. By integrating statistical categorization with pathway enrichment and network analysis using a curated hormone signaling interactome, the software facilitates discovery of sex-specific biomarkers and disease mechanisms frequently obscured in sex-aggregated analyses. - Source: PubMed
Le Bars SophieSoudy MohamedGlaab Enrico - Phospholipase C gamma-2 (PLCγ2) catalyzes the hydrolysis of the membrane phosphatidylinositol-4,5-bisphosphate (PIP) to form diacylglycerol (DAG) and inositol trisphosphate (IP), feeding into diverse downstream signaling pathways. polymorphisms have been associated with reduced and/or increased risk of Alzheimer's disease (AD) and related dementias, longevity, autoinflammation, and immune disorders. In the brain, PLCγ2 is expressed in microglia, and other neuroimmune and vascular interface populations, yet its role in brain homeostasis remains incompletely defined. - Source: PubMed
Publication date: 2026/07/14
Gutierrez-Kuri EduardoGarcia-Rogers Juliet Lynn MariePerez JaidSmith SabrinaKenwood Matthew RArchuleta Kahealani SXiao YangmingCampos GabrielaBarannikov SavannahWang HuPardo SammyRomsdahl Trevor BMiller HenryStowe Ann MWilliam RussellGoldberg MarkHan XianlinBieniek Kevin FWeintraub Susan TGriffith Ann VHopp Sarah CPalavicini Juan Pablo - ObjectiveAutoimmune and autoinflammatory diseases (AIDs) represent a heterogeneous group of immune-mediated disorders characterized by dysregulated innate and adaptive immune responses. This study aimed to investigate the immunogenetic background of AIDS by assessing the distribution of genetic variants identified by a targeted next-generation sequencing (NGS) panel and elucidating genotype-phenotype correlations in the context of systemic immune dysregulation.Materials and methodsA targeted NGS panel encompassing 19 genes involved in immune regulation, inflammatory signaling pathways, and immune tolerance was utilized to evaluate a cohort of 110 patients presenting with clinical manifestations suggestive of autoinflammatory disease. Clinical severity was quantitatively assessed using longitudinal serum C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) measurements across acute and baseline periods. Detected variants were classified according to the American College of Medical Genetics and Genomics (ACMG) guidelines and correlated with patient clinical phenotypes and established immunogenetic literature.ResultsA total of 55 genetic variants were identified across 41 patients. Alterations predominantly clustered in MEFV (38.2%), HFE (29.1%), and SLC29A3 (21.8%), followed by NOD2, MVK, CARD14, IL10RB, and PLCG2 (1.8% each). According to ACMG criteria, 61.8% of the variants were pathogenic, 25.5% were likely pathogenic, and 12.7% were VUS. Genotype-phenotype correlation analyses successfully linked rare variants (including PLCG2, IL10RB, and CARD14) and oligogenic combinations to specific laboratory profiles. These findings revealed unexpected penetrance, variable expressivity, and distinct biomarker disassociations, most notably highlighted by isolated ESR elevations reaching 91 mm/h.ConclusionOur findings underscore the immunogenetic heterogeneity of autoinflammatory diseases and substantiate the diagnostic value of NGS-based profiling in deciphering complex genotype-phenotype associations. The integration of specific quantitative biomarkers and downstream mechanisms highlights how non-HLA regulatory variants reshape the chronic inflammatory immune microenvironment, lowering the threshold for inflammasome activation and systemic autoimmunity. - Source: PubMed
Publication date: 2026/07/06
Geniş Esra ÇolakÇam Fethi Sırrı