ZNFN1A5 antibody - N-terminal region (ARP33276_P050)
- Known as:
- ZNFN1A5 (anti-) - N-terminal region (ARP33276_P050)
- Catalog number:
- arp33276_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- ZNFN1A5 antibody - N-terminal region (ARP33276_P050)
Related genes to: ZNFN1A5 antibody - N-terminal region (ARP33276_P050)
- Gene:
- IKZF5 NIH gene
- Name:
- IKAROS family zinc finger 5
- Previous symbol:
- ZNFN1A5
- Synonyms:
- Pegasus, FLJ22973
- Chromosome:
- 10q26.13
- Locus Type:
- gene with protein product
- Date approved:
- 2004-02-20
- Date modifiied:
- 2016-10-05
Related products to: ZNFN1A5 antibody - N-terminal region (ARP33276_P050)
Related articles to: ZNFN1A5 antibody - N-terminal region (ARP33276_P050)
- Platelets are anucleate cells produced in the bone marrow and derived from large progenitor cells called megakaryocytes (MKs). Platelets receive RNA transcripts from their progenitorial MKs during thrombopoiesis. However, the correspondence between platelet and MK transcriptomes is poorly understood, particularly in the context of germline mutations that cause platelet formation defects or thrombocytopenia. We have studied the effects of two such mutations on MK and platelet transcriptomes. We generated immortalized MK cell line (imMKCL)-based models of Bernard-Soulier syndrome and -related thrombocytopenia. MKs derived from imMKCLs with either a homozygous deletion of ( ) or a heterozygous Y121F variant in ( ) exhibited reduced proplatelet formation (reductions of 96% and 57%, respectively). Platelets from patients with either or genotypes had broad transcriptomic dysregulation, suggesting that (pro)platelet formation defects due to mutations in glycoprotein receptor and transcription factor genes such as and already affect the MK transcriptome. RNA-seq data from MKs at four stages of differentiation revealed widespread but distinct changes in expression over time between the and the genotypes. Dysregulated genes in MKs were enriched for RNA metabolism and actin/tubulin folding pathways, whereas those in MKs were enriched for cell cycle pathways. Most of these genes were also dysregulated in the platelets of patients with the corresponding diseases. Our results suggest that patients with inherited forms of thrombocytopenia present with specific transcriptomic changes during platelet formation. - Source: PubMed
Publication date: 2025/09/25
De Wispelaere KoenraadVer Donck FabienneRamaekers KatoThys ChantalEto KojiLabarque VeerleTurro ErnestFreson Kathleen - To investigate the potential relationship between Ikaros family genes and skin cutaneous melanoma (SKCM), we undertook a pan-cancer analysis of the transcriptional signature and clinical data of melanoma through multiple databases. First, 10,327 transcriptomic samples from different cancers were included to determine the overall characteristics and clinical prognoses associated with Ikaros gene expression across cancer types. Second, differentially expressed genes analysis, prognostic evaluation, and gene set enrichment analysis were employed to investigate the role of Ikaros () genes in SKCM. Third, we evaluated the relationship between Ikaros family genes and SKCM immune infiltrates and verified the findings using the GEO single-cell sequencing dataset. The results show that Ikaros genes were widely expressed among different cancer types with independently similar patterns as follows: 1. and , and 2. and . and were downregulated in the primary tumor, and expression decreased significantly as the T-stage or metastasis increased in SKCM. Moreover, high expression was associated with better overall survival, disease-specific survival, and progression-free interval. is an independent prognostic factor of SKCM. Among Ikaros genes, the expression of and positively correlated with the infiltration level of CD4 T cells and CD8 T cells, B cells, and Tregs in SKCM and negatively correlated with the infiltration level of M0 and M1 macrophages. Moreover, single-cell sequencing data analysis revealed that and were mainly expressed by immune cells. Correlation analysis shows the immune factors and drug responses associated with IKZF3 expression. In conclusion, the present study is the first, to our knowledge, to identify a pan-cancer genomic signature of the Ikaros gene family among different cancers. Expression of these family members, particularly high levels of , indicate positive immunological status and beneficial clinical outcomes of SKCM. may therefore serve as potential targets for immunotherapy of melanoma. - Source: PubMed
Publication date: 2022/10/24
Yang Lin-KaiLin Can-XiangLi Sheng-HongLiang Jia-JiXiao Li-LingXie Guang-HuiLiu Hong-WeiLiao Xuan - IKAROS is a pioneer protein of the IKZF family of transcription factors that plays an essential role in lymphocyte development. Recently, inborn errors of IKAROS have been identified in patients with B cell deficiency and hypogammaglobulinemia, and these patients often present with recurrent sinopulmonary infection. Autoimmunity and hematologic malignancies are other characteristic complications seen in the patients with IKAROS deficiency. Missense mutation involving asparagine at the 159th position results in combined immunodeficiency, often presenting with Pneumocystis jirovecii pneumonia. Inborn errors of AIOLOS, HELIOS, and PEGASUS have also been reported in patients with B cell deficiency, Evans syndrome, and hereditary thrombocytopenia, respectively. Here, we briefly review the phenotype and genotype of IKZF mutations, especially IKAROS. - Source: PubMed
Publication date: 2021/07/12
Yamashita MotoiMorio Tomohiro - Heterozygous variants in the IKZF5 gene, encoding transcription factor Pegasus, were recently discovered to be causal of inherited thrombocytopenia (IT). We screened 90 patients suspected of inherited thrombocytopenia for variants in 101 genes associated with inherited bleeding disorders and report the clinical presentation of two Danish families with novel variants in IKZF5. Platelet ultrastructure and cytoskeleton were evaluated by immunofluorescent microscopy (IF) and found to be highly abnormal, demonstrating severe disturbances of distribution and expression of non-muscular myosin, filamin, β-tubulin and α tubulin. Number of alpha granules were reduced, and platelets elongated when evaluated by TEM. In both families a child carrying a rare IKZF5 variant was affected by developmental delay. The proband of family A presented with recurrent infections and was examined for an immunodeficiency. The concentration of naive B-cells was found moderately reduced by leucocyte subpopulation examination, indicating an impaired cellular immunity. T-cells were marginally low with reduced share and concentration of CD45RApos, CD31pos, CD4pos recent thymic immigrants as signs of reduced thymic output. The novel IKZF5 variants co-segregated with thrombocytopenia in both families and both probands had significant bleeding tendency. Through comprehensive characterizations of the platelet morphology and function linked to the specific phenotypes we add novel insight to -associated thrombocytopenia, which may help to identify and classify more cases with associated IT. - Source: PubMed
Publication date: 2020/05/18
Leinoe EvaKjaersgaard MimiZetterberg EvaOstrowski SisseGreinacher AndreasRossing Maria - We compared clinical validity of two non-invasive prenatal screening (NIPS) methods for fetal trisomies 13, 18, 21, and monosomy X. We recruited prospectively 2203 women at high risk of fetal aneuploidy and 1807 at baseline risk. Three-hundred and twenty-nine euploid samples were randomly removed. The remaining 1933 high risk and 1660 baseline-risk plasma aliquots were assigned randomly between four laboratories and tested with two index NIPS tests, blind to maternal variables and pregnancy outcomes. The two index tests used massively parallel shotgun sequencing (semiconductor-based and optical-based). The reference standard for all fetuses was invasive cytogenetic analysis or clinical examination at birth and postnatal follow-up. For each chromosome of interest, chromosomal ratios were calculated (number of reads for chromosome/total number of reads). Euploid samples' mean chromosomal ratio coefficients of variation were 0.48 (T21), 0.34 (T18), and 0.31 (T13). According to the reference standard, there were 155 cases of T21, 49 T18, 8 T13 and 22 45,X. Using a fetal fraction ≥4% to call results and a chromosomal ratio z-score of ≥3 to report a positive result, detection rates (DR), and false positive rates (FPR) were not statistically different between platforms: mean DR 99% (T21), 100%(T18, T13); 79%(45,X); FPR < 0.3% for T21, T18, T13, and <0.6% for 45,X. Both methods' negative predictive values in high-risk pregnancies were >99.8%, except for 45,X(>99.6%). Threshold analysis in high-risk pregnancies with different fetal fractions and z-score cut-offs suggested that a z-score cutoff to 3.5 for positive results improved test accuracy. Both sequencing platforms showed equivalent and excellent clinical validity. - Source: PubMed
Publication date: 2019/06/23
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