GFI1B antibody - N-terminal region (ARP30093_P050)
- Known as:
- GFI1B (anti-) - N-terminal region (ARP30093_P050)
- Catalog number:
- arp30093_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- GFI1B antibody - N-terminal region (ARP30093_P050)
Related genes to: GFI1B antibody - N-terminal region (ARP30093_P050)
- Gene:
- GFI1B NIH gene
- Name:
- growth factor independent 1B transcriptional repressor
- Previous symbol:
- -
- Synonyms:
- ZNF163B
- Chromosome:
- 9q34.13
- Locus Type:
- gene with protein product
- Date approved:
- 1998-09-17
- Date modifiied:
- 2019-04-23
Related products to: GFI1B antibody - N-terminal region (ARP30093_P050)
Related articles to: GFI1B antibody - N-terminal region (ARP30093_P050)
- Immunofluorescence-based platelet phenotyping using peripheral blood smears has recently emerged as a promising method for characterizing a subgroup of inherited platelet disorders (IPD). A single-center study demonstrated its potential for accurate diagnosis of 9 disorders with characteristic platelet structural changes. The aim of this study was to evaluate the reproducibility of this approach through an interlaboratory validation study. Native, air-dried blood smears from healthy controls and patients with confirmed IPD were shipped to 7 participating laboratories, blinded for the sample origin. Samples were fixed and stained using a shared panel of 13 commercially available primary antibodies and 2 fluorescence-labelled secondary antibodies. Laboratories formulated diagnostic predictions based solely on immunofluorescence findings. The pre-workshop method establishment involved other samples and feedback with the coordinating laboratory to address technical issues before blinded sample validation. All 7 laboratories (Brisbane, Greifswald, Murcia, Paris, Pavia, Perugia, and Tübingen) correctly diagnosed MYH9-related disease, Bernard-Soulier syndrome, Glanzmann thrombasthenia, and GFI1B-related thrombocytopenia. Six of 7 laboratories accurately identified TUBB1-related disorder and quantitative δ-storage pool disorder, while 5 of 7 correctly diagnosed GATA1-related thrombocytopenia. Immunofluorescence-based platelet phenotyping on peripheral blood smears demonstrated high sensitivity for diagnosing MYH9-related disease, Bernard-Soulier syndrome, Glanzmann thrombasthenia, and GFI1B-related thrombocytopenia, and reasonable sensitivity for TUBB1-related disorder, quantitative δ-storage pool disorder, and GATA1-related thrombocytopenia. Immunofluorescence analysis of blood smears may be of help in the diagnostic work-up of IPD. - Source: PubMed
Publication date: 2026/03/04
Zaninetti CarloBury LoredanaBozzi ValeriaZamora-Cánovas AnaAlthaus KarinaUzun GünalpBrown SimonNorman AndrewFaille DorothéeStepanian AlainKager LeoOhlenforst SandraFreyer CarmenSemenowitsch SinaBonisoli Giulio LuigiBakchoul TamamPecci AlessandroGresele PaoloThiele ThomasRivera Jose'Greinacher Andreas - Inherited thrombocytopenias (ITs) constitute a heterogeneous group of congenital bleeding disorders caused by defects in over 50 genes that predominantly affect platelet production. has recently emerged as a critical transcriptional regulator of megakaryocyte and erythroid differentiation. Its dysfunction underlies a rare autosomal dominant form of IT, which usually results in moderately reduced platelet counts. We report an adult male with lifelong severe thrombocytopenia (platelet count range 10–20 × 10⁹/L) and recurrent bleeding episodes since early childhood. Comprehensive molecular analysis identified a heterozygous NM_001377304.1:c.814 + 1G > A variant in the zinc finger region of , resulting in a frameshift and premature truncation. The proband exhibited hallmark features of this IT subtype, including α‑granule deficiency and persistent CD34 expression in megakaryocytes and platelets. Based on preclinical evidence, the patient initially received eltrombopag, followed later by romiplostim, achieving a partial platelet response and improvement in bleeding symptoms. Familial analysis revealed marked variability in platelet counts and bleeding phenotypes among carriers of the same variant, including the patient’s mother, highlighting that clinical outcomes cannot be reliably predicted from genotype alone. A literature review confirmed considerable phenotypic heterogeneity in -related thrombocytopenia, indicating that variant type and location only partially account for disease severity. This report represents the first in-human use of thrombopoietin receptor agonists in -related thrombocytopenia. It underscores the challenges in diagnosing and managing ITs and emphasizes the importance of early genetic testing. Further studies are needed to elucidate the molecular determinants of phenotypic variability and to develop targeted therapeutic strategies for affected patients. - Source: PubMed
Publication date: 2026/03/02
Urbański BartoszBąbol-Pokora KatarzynaBraun MarcinJanczar SzymonMichalak MartaSałacińska-Łoś ElżbietaMłynarski WojciechTreliński Jacek - Genomic loci associated with common traits and diseases are typically non-coding and likely impact gene expression, sometimes coinciding with rare loss-of-function variants in the target gene. However, our understanding of how gradual changes in gene dosage affect molecular, cellular, and organismal traits is currently limited. To address this gap, we induced gradual changes in gene expression of four genes using CRISPR activation and inactivation in human-derived K562 cells. Downstream transcriptional consequences of dosage modulation of three master trans-regulators associated with blood cell traits (, , and ) were examined using targeted single-cell multimodal sequencing. We showed that guide tiling around the TSS is the most effective way to modulate gene expression across a wide range of fold changes, with further effects from chromatin accessibility and histone marks that differ between the inhibition and activation systems. Our single-cell data allowed us to precisely detect subtle to large gene expression changes in dozens of genes, revealing that many responses to dosage changes of these three TFs are nonlinear, including non-monotonic behaviours, even when constraining the fold changes of the master regulators to a copy number gain or loss. We found that the dosage properties are linked to gene constraint and that some of these nonlinear responses are enriched for disease and GWAS genes. Overall, our study provides a straightforward and scalable method to precisely modulate gene expression and gain insights into its downstream consequences at high resolution. - Source: PubMed
Publication date: 2026/01/14
Domingo JúliaMinaeva MariiaMorris John AGhatan SamuelZiosi MarcelloSanjana Neville ELappalainen Tuuli - Platelet type bleeding disorder 17 (OMIM #187900) is a type of "gray platelet syndrome" and occurs due to a mutation in the GFI1B gene on chromosome 9q34.13. Patients usually present with a history of easy bleeding tendencies, recurrent epistaxis or gum bleeding, and rarely with severe hemorrhage, and they may often be misdiagnosed. We herein report a novel autosomal recessive bleeding disorder in two sisters of the same family caused by a mutation in GFI1B, where both sisters, 13 and 8 years old, respectively presented with a history of recurrent episodes of epistaxis, firstly misdiagnosed and treated as ITP. Later, the final diagnosis was made with whole genome sequencing. The identification of GFI1B mutations in patients with thrombocytopenia and bleeding disorders highlights the importance of genetic testing in the diagnostic workup of these conditions. The cases reported here presented with mild to moderate thrombocytopenia and were initially misdiagnosed as ITP. Whole exome sequencing has proven to be a valuable tool in identifying mutations, as demonstrated in this case. This case report underscores the significance of evaluating for inherited platelet disorders in instances of recurrent bleeding. - Source: PubMed
Publication date: 2025/10/01
Aryal ShovaAryal SurabhiAdhikari SangitAdhikari Punam - To identify genetic variants that influence myeloproliferative neoplasm (MPN) phenotypes, we undertook a 2-stage patient-only genome-wide association study. MPN subtypes (essential thrombocythemia [ET]; polycythemia vera [PV]) were compared with each other to healthy controls and stratified analyses was performed for chromosome 9p aberrations, JAK2 V617F mutation burden, and sex. The ET vs PV analysis identified known associations: (1) at HBS1L-MYB that increased ET risk (Pmeta = 7.93 × 10-6, odds ratio [OR] = 1.28) and reduced PV risk (Pmeta = 9.43 × 10-5, OR = 0.81) and (2) at GFI1B-GTF3C5 that predisposed to PV only (Pmeta = 1.43 × 10-9, OR = 1.38). Two further linked intronic variants, rs2425786 and rs2425788, at CDH22/CD40 were significant in females only (Pmeta = 2.67 × 10-8), with predisposition to PV (Pmeta = .0006, OR = 1.3) and reduction of ET risk (Pmeta = 7.82 × 10-5, OR = 0.75). A polygenic risk score consisting of 48 variants from 31 loci demonstrated moderate discriminative performance for ET and PV (area under the curve [AUC] = 0.718) and was improved by optimization for disease subtype (AUCET = 0.724 and AUCPV = 0.755). Overall, our results reveal that multiple germline variants influence MPN phenotype, with HBS1L-MYB and a novel sex-specific association with CDH22/CD40 being the strongest determinants. - Source: PubMed
Tapper William JDawoud Ahmed A ZScore JoannahChase Andrew JBaxter E JoannaEwing JoanneWallis LouiseGuglielmelli PaolaColomer DolorsBellosillo BeatrizGomez MontseHernández-Boluda Juan CarlosBesses CarlosCervantes FranciscoKoschmieder SteffenGreen Anthony RReiter AndreasVannucchi AlessandroHarrison ClaireCross Nicholas C P