Ask about this productRelated genes to: KLHDC8B antibody
- Gene:
- KLHDC8B NIH gene
- Name:
- kelch domain containing 8B
- Previous symbol:
- -
- Synonyms:
- MGC35097
- Chromosome:
- 3p21.31
- Locus Type:
- gene with protein product
- Date approved:
- 2005-12-05
- Date modifiied:
- 2014-11-18
Related products to: KLHDC8B antibody
Related articles to: KLHDC8B antibody
- Hodgkin lymphoma (HL) is a heterogenous lymphoproliferative disorder of B-cell origin and represents one of the most common malignancies in children and young adults. In addition to well-known underlying factors - such as Epstein-Barr virus infection - the familial aggregation demonstrated in large population studies suggested a genetic predisposition. First-degree relatives of patients with HL have an approximately threefold increased risk of developing the disease compared to the general population. These observations have recently prompted several whole-genome studies in affected families, identifying variants possibly implicated in lymphomagenesis, including alterations in (a member of the ribonuclease III family), protection of telomeres 1), (kinase insert domain receptor), (kelch domain-containing protein 8B), (paired box protein 5), ( binding protein 3), (interferon regulatory factor 7) (eukaryotic elongation factor 2 lysine methyltransferase), and (RNA polymerase I subunit E). In this article, we review current insights into the etiopathogenesis and risks of familial HL, and present case reports involving two sisters diagnosed with HL nearly 17 years apart. Recognizing the risk for first-degree relatives may potentially increase awareness of early symptoms among family members of HL patients, leading to earlier diagnosis and better outcomes. Conversely, understanding that the hereditary risk, though higher than in the general population, remains relatively low may provide reassurance for affected families. - Source: PubMed
Roganovic JelenaMatijasic Stjepovic NusaDordevic Ana - Migraine, a debilitating neurological disorder with distinct subtypes (migraine with aura [MA] and migraine without aura [MO]), exhibits genetic and spatial heterogeneity that remains poorly understood. While genetic correlations between subtypes are established, spatially resolved molecular mechanisms driving their divergent clinical phenotypes-particularly in tissue microenvironments-are unclear, limiting targeted therapeutic development. - Source: PubMed
Publication date: 2025/08/18
Wei ShuxuQuan YanLi XinyiZhong SuiqinXiao LingYang ChaoShen RonghuaiLu XiaojiaHe LingbinZhang YoutiHuang Xianxi - Tuberculosis (TB) remains a major global health challenge, contributing substantially to morbidity and mortality worldwide. The progression from (Mtb) infection to active disease involves a complex interplay between host immune responses and Mtb's ability to evade them. However, current diagnostic tools, such as interferon-gamma release assays (IGRAs) and tuberculin skin tests (TSTs), have limited ability to distinguish between different stages of TB or to predict the progression from infection to active disease. In this study, we performed an integrative analysis of 324 previously acquired blood transcriptome samples from TB patients, TB contacts, and controls across diverse geographical regions. Differential gene expression analysis revealed distinct transcriptomic signatures in TB patients, highlighting dysregulated pathways related to immune responses, antimicrobial peptides, and extracellular matrix organization. Using machine learning, we identified a 99-transcript signature that accurately distinguished TB patients from controls, demonstrated strong predictive performance across different cohorts, and identified potential progressors or subclinical cases. Validation in an independent dataset comprising 90 TB patients and 20 healthy controls confirmed the robustness of the 10-gene signature (BATF2, FAM20A, FBLN2, AK5, VAMP5, MMP8, KLHDC8B, LINC00402, DEFA3, and GBP6), achieving high area under the curve (AUC) values in both receiver operating characteristic (ROC) and precision-recall analyses. This 10-gene signature offers promising candidates for further validation and the development of diagnostic and prognostic tools, supporting global efforts to improve TB detection and risk stratification. - Source: PubMed
Publication date: 2025/05/26
Omrani MaryamGhodousi ArashCirillo Daniela Maria - Familial aggregation of Hodgkin lymphoma (HL) has been demonstrated in large population studies, pointing to genetic predisposition to this hematological malignancy. To understand the genetic variants associated with the development of HL, we performed whole genome sequencing on 234 individuals with and without HL from 36 pedigrees that had 2 or more first-degree relatives with HL. Our pedigree selection criteria also required at least 1 affected individual aged <21 years, with the median age at diagnosis of 21.98 years (3-55 years). Family-based segregation analysis was performed for the identification of coding and noncoding variants using linkage and filtering approaches. Using our tiered variant prioritization algorithm, we identified 44 HL-risk variants in 28 pedigrees, of which 33 are coding and 11 are noncoding. The top 4 recurrent risk variants are a coding variant in KDR (rs56302315), a 5' untranslated region variant in KLHDC8B (rs387906223), a noncoding variant in an intron of PAX5 (rs147081110), and another noncoding variant in an intron of GATA3 (rs3824666). A newly identified splice variant in KDR (c.3849-2A>C) was observed for 1 pedigree, and high-confidence stop-gain variants affecting IRF7 (p.W238∗) and EEF2KMT (p.K116∗) were also observed. Multiple truncating variants in POLR1E were found in 3 independent pedigrees as well. Whereas KDR and KLHDC8B have previously been reported, PAX5, GATA3, IRF7, EEF2KMT, and POLR1E represent novel observations. Although there may be environmental factors influencing lymphomagenesis, we observed segregation of candidate germline variants likely to predispose HL in most of the pedigrees studied. - Source: PubMed
Flerlage Jamie EMyers Jason RMaciaszek Jamie LOak NinadRashkin Sara RHui YaweiWang Yong-DongChen WenanWu GangChang Ti-ChengHamilton KaylaTithi Saima SGoldin Lynn RRotunno MelissaCaporaso NeilVogt AurélieFlamish DeborahWyatt KathleenLiu JiaTucker MargaretHahn Christopher NBrown Anna LScott Hamish SMullighan CharlesNichols Kim EMetzger Monika LMcMaster Mary LYang Jun JRampersaud Evadnie - Tumor-educated platelets (TEPs) may enable blood-based cancer diagnosis. This study aimed to identify diagnostic TEPs genes involved in carcinogenesis. - Source: PubMed
Publication date: 2021/05/06
Ge XinxinYuan LiuxiaCheng BinDai Kesheng