CD42b
- Known as:
- CD42b
- Catalog number:
- 11-367-C025
- Product Quantity:
- 0.025 mg
- Category:
- -
- Supplier:
- Exbio
- Gene target:
- CD42b
Related genes to: CD42b
- Gene:
- GP1BA NIH gene
- Name:
- glycoprotein Ib platelet subunit alpha
- Previous symbol:
- GP1B
- Synonyms:
- CD42b, GPIbalpha
- Chromosome:
- 17p13.2
- Locus Type:
- gene with protein product
- Date approved:
- 1990-09-10
- Date modifiied:
- 2019-04-23
Related products to: CD42b
Related articles to: CD42b
- Platelet-type von Willebrand disease (PT-VWD) is a rare thrombocytopathy caused by gain-of-function variants in , leading to increased binding of von Willebrand factor (VWF). Because its phenotype closely resembles VWD type 2B (VWD 2B), misdiagnosis is common, and distinction requires Ristocetin-induced platelet agglutination (RIPA) mixing studies and molecular genetic analysis. Although individual case reports, case series, and earlier summaries exist, an updated and comprehensive synthesis of all published cases has been lacking. We report a 4-year-old boy presenting with easy bruising, prolonged epistaxis, reduced VWF parameters (VWF collagen-binding activity 0.07 U/mL, VWF-antigen 0.33 U/mL), absence of high-molecular-weight multimers, and enhanced RIPA. Genetic testing identified the pathogenic variant p.Met255Val, causing PT-VWD. RIPA mixing studies confirmed the diagnosis. In the course of the disease, the patient developed recurrent mucosal bleeding and a hypersensitivity reaction to tranexamic acid. Therefore, desmopressin was used, and he showed partial clinical benefit from desmopressin without developing thrombocytopenia. To contextualize this case, we performed a literature review (PubMed, May 2025) and identified 67 documented patients with PT-VWD. Over 40% were initially misclassified as VWD 2B. p.Gly249Val and p.Met255Val were the most frequent variants. Baseline thrombocytopenia occurred in approximately one-third of cases, and pregnancy-associated thrombocytopenia was common. According to the literature, platelet transfusions were most effective (in case of major hemorrhage or surgical setting); VWF concentrates or desmopressin showed variable efficacy and occasional transient thrombocytopenia. These data demonstrate the diagnostic challenges of PT-VWD and emphasize the importance of clinical case collection to improve therapeutical management. - Source: PubMed
Publication date: 2026/08/28
Wiedenhoefer RebekkaBoeckelmann DorisGlonnegger HannahOldenburg JohannesZieger Barbara - Nasopharyngeal carcinoma (NPC) is an aggressive head and neck malignancy in which post-treatment recurrence and distant metastasis remain major contributors to poor clinical outcomes. Although microRNAs are important post-transcriptional regulators of tumor progression, the role of miR-320d in NPC remains incompletely understood. This study evaluated the biological role of miR-320d and explored whether it is involved in regulating neutrophil extracellular trap (NET) formation through the nuclear factor kappa-B (NF-κB)/interleukin-8 (IL-8) signaling axis. miR-320d was overexpressed in NPC cell lines S18 and 5-8F, and cell viability, migration, and invasion were evaluated. Integrated transcriptomic and proteomic analyses were performed to identify miR-320d-regulated genes, proteins, and pathways. Western blotting, immunohistochemistry, and immunofluorescence analyses were used to validate NET-associated proteins, including glycoprotein Ib platelet subunit alpha (GP1BA), histone deacetylase 10 (HDAC10), and fibrinogen gamma chain (FGG), as well as the expression of NET formation markers, including peptidyl arginine deiminase 4 (PADI4), myeloperoxidase (MPO), and neutrophil elastase (NE); and key components of the NF-κB/IL-8 axis. miR-320d overexpression significantly inhibited the viability, migration, and invasion of both S18 and 5-8F cells. Multi-omics analyses indicated that miR-320d-regulated molecules were mainly enriched in NET-related pathways. Consistently, miR-320d reduced the expression of GP1BA, HDAC10, FGG, PADI4, MPO, and NE. Mechanistically, miR-320d suppressed NF-κB signaling, as shown by decreased phosphorylated NF-κB (p-NF-κB) and total NF-κB levels, and reduced IL-8 secretion in NPC cells. miR-320d may suppress NPC progression, at least in part, by attenuating NF-κB/IL-8-associated NET formation. These findings suggest that the miR-320d/NF-κB/IL-8/NET regulatory axis may participate in NPC progression and may warrant further translational investigation. - Source: PubMed
Publication date: 2026/07/16
Liu LiuLiu JieNing ShuangchenWang JinHe Yingchun - To investigate the impact of single nucleotide polymorphisms (SNPs) and haplotypes of antiplatelet drug metabolism-related genes-, , , , and -as well as their gene-gene ( × ) and gene-environment ( × ) interactions on the risk of premature coronary artery disease (PCAD). - Source: PubMed
Publication date: 2026/06/29
Bi Zhong-HaiLiu Si-CongWeng Ying-HongChen Ji-YiLi Si-YaoLin Xiao-QunLiu Yan-LiMiao Liu - Thoracic aortic aneurysms (TAAs) are often found in younger individuals and approximately 20% may be associated with heritable thoracic aortic disease (HTAD). There are some data on genomic biomarkers reflecting inflammation and extracellular matrix remodelling in HTAD. However, data that accurately reflect the corresponding protein changes are scarce. Our aim was to quantify proteins by using targeted proteomics in HTAD patients versus healthy controls, to better understand the underlying pathophysiology. . Patients with Loeys-Dietz syndrome (LDS, = 8), Marfan syndrome (MFS, = 11), and familial TAA 6, i.e. actin alpha 2 (ACTA2, = 7) pathogenic variants were recruited at our outpatient clinic. For comparison, blood samples were drawn from 16 healthy controls. Plasma samples were analysed by targeted proteome analysis of 276 proteins using immunoaffinity proteomics. . Whereas oncostatin M and pentraxin 3 levels appeared generally higher in HTAD patients, after adjusting for several confounders, significantly higher levels for these markers as well as TNF receptor superfamily member 9 (TNFRSF9), granulysin (GNLY), CD5, vasorin and glycoprotein 1b-α (GP1BA) were only observed in LDS patients compared to healthy controls. Levels of TNFRSF9, GNLY, GP1BA and CD5 correlated positively with Th17 and platelet counts. . This discovery study suggests that LDS could represent a particular inflammatory subgroup of HTAD patients potentially reflecting the involvement of Th17 and platelet related mechanisms in the progression of TAA. Larger studies are needed to evaluate if the identified proteins could be used as biomarkers in these patients. - Source: PubMed
Publication date: 2026/07/18
Seim Bjørn EdvardKhan YusufFlesvig Holt MargretheRatajska AleksandraMichelsen AnnikaMyklebust Ringseth MonicaLundblad RunarHalvorsen BenteKrohg-Sørensen KirstenOsnes Liv T NAukrust PålPaus BenedicteKvitting John-Peder EscobarUeland Thor - Cetaceans face the risk of thromboembolism due to diving and decompression responses. However, cetaceans maintain normal blood circulation. This study explores the molecular mechanisms cetaceans use to mitigate diving-associated hemostatic challenges during diving. Forty-six species were analyzed, including 18 cetaceans, 9 artiodactyls, and 19 other terrestrial mammals. Thirty-nine anticoagulant genes and proteins were examined, identifying 6 genes (ANXA2, ANXA5, FGA, FGB, PLAUR, and PLG) with conserved evolution, 4 genes (ANXA2, PDGFB, SH2B3, THBS1) with positive selection, and 12 proteins (APOH, FGA, FGB, FGG, GP1BA, PLAU, PRKCD, PRKG1, SERPINF2, SERPING1, TMPRSS6, and TMX1) with specific amino acid sites in cetaceans. Ancestral state reconstruction revealed independent evolution of deep diving behavior in different cetacean lineages, particularly within Odontoceti. Correlation analysis linked the evolution of the APOE gene with diving depth, suggesting its role in diving adaptation. These analyses suggest that cetaceans may help reduce the risk of thrombosis during diving by lowering platelet activity, enhancing fibrinolysis, and modulating the coagulation cascade. These analyses suggest that cetaceans may mitigate diving-associated thrombotic risk by modulating platelet activity, fibrinolysis, and the coagulation cascade. Overall, this study identifies candidate anticoagulant-related genes and amino acid substitutions for future functional validation of hemostatic adaptation in cetaceans. - Source: PubMed
Publication date: 2026/07/06
Lv WenjunCao LiZhang YaXu ShixiaRen Wenhua