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
- Facioscapulohumeral muscular dystrophy(FSHD) is a genetic and heterogeneous neuromuscular disorder primarily driven by DUX4 derepression. The marked clinical variability observed among affected individuals suggests the presence of additional genetic modifiers, however underlying factors remain largely unclear. Investigating coincidental hereditary conditions within families may provide critical insights into such modifying mechanisms. We investigated a multigenerational family exhibiting the co-occurrence of FSHD and hereditary macrothrombocytopenia. Detailed neurological and hematological evaluations were performed across family members. Trio whole-exome sequencing(WES) was performed in selected individuals, followed by DNA sequencing and segregation analysis of identified genes. In silico structural analyses were performed for candidate variants. Candidate variants were additionally screened in an independent cohort with next generation sequencing. Clinical severity was assessed using the Clinical severity score(CSS), FSHD clinical score, and age-corrected CSS(ACSS). Trio-WES analysis identified a pathogenic frameshift mutation(c.1848delT) in GP1BA gene, responsible for macrothrombocytopenia. Among candidate variants located near GP1BA, a missense variant in MYH2(c.5045G > A) was prioritized due to its known association with myopathy and its involvement in DUX4-related pathways. Segregation analysis revealed that GP1BA mutations were present in five of nine FSHD-affected individuals, four of whom also harboured the MYH2 variant. Neither mutation was detected in unaffected family members. Individuals carrying the MYH2 variant consistently exhibited higher ACSS values compared to family members who did not carry the variant. Screening of MYH2 c.5045G > A (p.Arg1682His) and GP1BA c.1848delT variants in an independent cohort of 30 FSHD1 patients revealed no variant carriers, with all individuals exhibiting a wild-type genotype. Network analysis focusing on the interaction landscape between the FSHD key protein DUX4 and MYH2, using the Integrated Interactions Database(IID), revealed ACTN1 as a connecting node linking these pathways. Our findings suggest that rare MYH2 variants may act as a genetic modifier influencing the clinical severity in FSHD, which has not been previously reported. This study highlights the value of investigating co-occurring hereditary conditions to uncover novel molecular contributors to disease heterogeneity in FSHD. The potential role of MYH2 and its rare variants as genetic modifiers should be further validated in larger cohorts and functional studies. - Source: PubMed
Publication date: 2026/07/02
Hangül CerenManguoglu Ayse EsraDogan HaldunOflaz OfcanYücel Orhan KemalUysal HilmiÖzkan Didem TorunAkkaya BaharCeylaner SerdarKaraüzüm Sibel Berker - Myelodysplastic neoplasms (MDS) are clonal hematopoietic disorders defined by ineffective hematopoiesis, cytopenias, and variable risk of progression to acute myeloid leukemia. Although genomic and epigenomic studies have provided insight into disease pathogenesis, reliable biomarkers for diagnosis and prognosis remain limited. Proteomics offers an important advantage because it reflects the functional protein state and captures post-translational modifications, making it highly relevant for risk assessment and therapy guidance. Recent studies have identified several groups of candidate biomarkers. Kinases and signal transduction proteins such as CAMK1D, PRKCZ, KIT, MAST4, PAK6, PTK7, and NTRK1 are dysregulated in MDS and associated with poor outcomes, immune evasion, and aberrant stem cell signaling. Oncofetal proteins like IGF2BP3 and signaling regulators such as RBP4 further highlight proteomic signatures linked to chemoresistance and subtype specificity. In the transplant setting, immune regulators including CSK, FGR, CRTAM, GP1BA, UBE2N, and STAT1 may serve as predictors of graft rejection and relapse. Cytoskeletal and extracellular matrix proteins such as CEP55, Talin-1, Kindlin-3, Vinculin, THBS1, LRG1, SPARC, SAA1, Clusterin, and PRDM16 underscore the role of bone marrow microenvironmental remodeling and adhesion defects in disease progression. Finally, metabolic enzymes such as LDHA reflect altered energy metabolism and correlate with more aggressive disease biology. Collectively, these proteomic candidates illustrate the complex interplay of signaling, immune regulation, bone microenvironment, and metabolism in MDS. Their validation in clinical cohorts could enable early detection, refined risk stratification, and new therapeutic avenues, positioning proteomics as a central tool in the future management of MDS. - Source: PubMed
Novak RuđerMandac Smoljanović IngaGrgurević Lovorka - Chronic Chagas cardiomyopathy (CCC) remains a major cause of heart failure (HF)-related mortality in Latin America and is increasingly recognized as a global health concern. Prognostic models developed in non-Chagas populations often perform poorly in CCC, highlighting the need for etiology-specific risk stratification. - Source: PubMed
Publication date: 2026/06/08
Patané José S LGiugni Fernando RRosa Rogério SMarcondes-Braga Fabiana GMansur Alfredo JPereira Alexandre CKrieger Jose E - Bernard-Soulier syndrome (BSS), a rare inherited platelet disorder, is characterized by macrothrombocytopenia, typically with mild to moderate thrombocytopenia, and abnormal expression of the GPIb-IX-V complex on the platelet surface. BSS is caused by missense, nonsense, and frameshift mutations in the GP1BA, GP1BB, and GP9 genes. This study aimed to characterize the mutations associated with BSS in Iranian patients. - Source: PubMed
Publication date: 2026/05/23
Ghodratnia ElnazTabibian ShadiBarati MahmoodSafa Majid - Genome-wide association studies (GWASs) have identified common genetic risk loci for ischemic stroke (IS), primarily in European populations older than 55 years. We aimed to identify common and rare risk variants associated with early-onset IS (ages 18-54) in Taiwan. - Source: PubMed
Publication date: 2026/06/01
Wang Yin-ChengLiu Kai-MingGan Yu-LingChi Nai-FangLu Liang-SueiChou Che-YuWang Liang-YunChang Li-HsinHou Ming-ChihFu Yun-ChingChiou Jeng-FongWu Ming-ShiangYang Shun-FaPang See-TongWang Jaw-YuanTsai Yi-TingHuang Chih-YangChiu Kuan-MingChen MingChiang Fu-TienWang Chih-HungYao Wei-JenLee Sing-LianHuang Chi-HungLiu Yo-TsenWang Shuu-JiunKo Wen-YaChen Chien-HsiunLee I-Hui