Ask about this productRelated genes to: GBAP antibody
- Gene:
- GBAP1 NIH gene
- Name:
- glucosylceramidase beta pseudogene 1
- Previous symbol:
- GBAP
- Synonyms:
- -
- Chromosome:
- 1q22
- Locus Type:
- pseudogene
- Date approved:
- 1989-05-11
- Date modifiied:
- 2016-03-15
Related products to: GBAP antibody
Related articles to: GBAP antibody
- Sequence alignment is essential for genomic research and clinical diagnostics, yet detecting complex rearrangements such as inversions, duplications, and gene conversions remains challenging due to allele complexity and limitations of current methods. We introduce VACmap, a non-linear mapping approach to enhance the detection and representation of all genetic variations. VACmap improves duplication detection from 20% to 90% in the Challenging Medically-Relevant Genes (CMRG) benchmark and improves characterization of complex inversions in repetitive regions and gene conversion events. It improves resolving clinically significant loci, including the LPA gene (with repetitive KIV-2 units linked to coronary heart disease), GBA1 and STRC genes (risk factors for Parkinson's disease and hearing loss, respectively, affected by pseudogene recombination with GBAP1 and STRCP1). Here, we show that VACmap delivers better alignment accuracy and SV detection, providing a robust tool for genomic analysis and clinical insights, with potential to advance understanding of genetic diversity and disease mechanisms. - Source: PubMed
Publication date: 2026/01/05
Ding HongyuSedlazeck Fritz JProukakis ChristosMorley CaoimheToffoli MarcoSchapira Anthony HvLiao ZhiruiPu LianrongZhu Shanfeng - Gaucher disease (GD), caused by biallelic pathogenic variants in , has evolved from being understood as a macrophage-restricted lysosomal disorder to a multisystem condition involving neuroinflammation, immune dysregulation, and cell-type-specific lipid toxicity. This expanded view has driven a parallel progression in GD mouse model development. Early chemically induced and germline knockout models provided foundational insights but were limited by perinatal lethality or incomplete phenotypic fidelity. Subsequent generations of conditional, inducible, and lineage-specific models enabled dissection of visceral and neuronopathic manifestations and clarified the contributions of macrophages, B cells, neurons, microglia, osteoblasts, and endothelial cells to disease pathogenesis. More recent humanized immune and gene-edited platforms, together with multi-omics integration, now allow modeling of genotype-specific biology and therapeutic response with greater translational precision. In this review, we synthesize the evolution of GD mouse models across these eras, evaluate their strengths and limitations, and highlight species-specific challenges including differences in lipid metabolism, immune architecture, and the absence of the pseudogene in mice that influence interpretation and clinical translation. We outline emerging strategies for incorporating patient-derived mutations, modifier pathways, and clinically meaningful endpoints into future models. Our aim is to provide a coherent framework that bridges murine and human GD biology and supports the development of more predictive platforms to accelerate mechanistic discovery, biomarker development, and therapeutic innovation across all subtypes of GD. - Source: PubMed
Publication date: 2025/12/10
Fattahi NimaRuan JiapengBelinsky GlennXing ShuMistry Pramod KNair Shiny - Lung cancer (LC) is among the most prevalent cancers globally, posing a significant threat to human health. This study employed Mendelian randomization (MR) analysis to identify key drug targets for LC treatment. MR results from the inverse variance weighted (IVW) algorithm highlighted 352 expression quantitative trait loci (eQTLs) and 31 protein quantitative trait loci (pQTLs) causally associated with LC. Sensitivity and Steiger analyses confirmed that 305 eQTLs and 28 pQTLs exhibited a robust causal relationship with LC. Colocalization analysis further identified 20 eQTLs as potential drug targets for LC. Predictions were made for 257 drugs and 17 diseases, establishing a target-drug network that included PTGFR-D005557 and IREB2-C004925, among others. The drugs-diseases network revealed associations such as D007213 with Liver Cirrhosis and D013749 with Schizophrenia. Notably, the strongest binding interaction was observed between Valproic acid and eight genes (BRAT1, H2BC11, IREB2, MICAL1, MPHOSPH6, PTGFR, RHNO1, SERPING1), suggesting a significant molecular interaction. Ultimately, seven key drug targets (SERPING1, TDRD9, GBAP1, FAM241A, ZKSCAN4, ZKSCAN3, Z94721.1) were consistently identified across two MR studies and validated. These targets offer new avenues for LC treatment, highlighting their potential in therapeutic development. - Source: PubMed
Publication date: 2025/12/23
Huang YaweiGeng MengyaZhang Mukun - This study aimed to develop a novel homologous sequence analysis technique using high-throughput sequencing data to enhance CYP21A2 mutation detection. The approach leverages next-generation sequencing to overcome existing limitations and improve 21-hydroxylase deficiency diagnostic accuracy. - Source: PubMed
Publication date: 2025/09/16
Chen YiboYu QiGe LishaWeng LixinPan XiaoliZhou XiaoxiaZhou NaniWang YanjieJia JiaLi Haibo - - Source: PubMed
Publication date: 2025/07/10
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