Polyclonal NBEAL1 antibody
- Known as:
- Polyclonal NBEAL1 (anti-)
- Catalog number:
- stj94347
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- St Johns Labs
- Gene target:
- Polyclonal NBEAL1 antibody
Related genes to: Polyclonal NBEAL1 antibody
- Gene:
- NBEAL1 NIH gene
- Name:
- neurobeachin like 1
- Previous symbol:
- ALS2CR17, ALS2CR16
- Synonyms:
- MGC164581
- Chromosome:
- 2q33.2
- Locus Type:
- gene with protein product
- Date approved:
- 2004-11-26
- Date modifiied:
- 2016-10-05
Related products to: Polyclonal NBEAL1 antibody
Related articles to: Polyclonal NBEAL1 antibody
- BackgroundThe extent and biological relevance of shared genetic architecture between myocardial infarction (MI) and heart failure (HF) remain incompletely understood.MethodsWe analyzed large-scale European-ancestry genome-wide association studies summary statistics for MI and HF. Genome-wide genetic correlation was estimated using linkage disequilibrium score regression, and polygenic overlap was quantified using MiXeR. Shared loci were identified via conditional and conjunctional false discovery rate (condFDR/conjFDR) approaches. Functional prioritization incorporated Functional Mapping and Annotation-based annotation, Bayesian fine-mapping, transcriptome-wide association studies (TWAS), FOCUS gene fine-mapping, and summary-level Mendelian randomization (SMR) integrating UKB-PPP proteomic data.ResultsLinkage disequilibrium score regression revealed a robust positive genetic correlation between MI and HF (rg = 0.494, = 1.12 × 10). MiXeR demonstrated substantial polygenic overlap, with approximately 90% of MI-associated variants shared with HF and strong concordance in effect direction. The cond/conjFDR analyses identified multiple pleiotropic loci, including novel HF-associated regions. Fine-mapping prioritized rs544366796 within the SLC22A2/SLC22A3 locus as a high-confidence candidate variant for MI based on posterior probability. The TWAS and FOCUS highlighted canonical MI genes (CDKN2B, CELSR2, BRAP, NBEAL1) and identified MYOZ1 as an HF-specific candidate gene. Proteome-wide SMR analysis provided statistical evidence consistent with apolipoprotein E being a shared protein influenced by variants associated with both MI and HF.ConclusionThe MI and HF share substantial genetic liability characterized by strong polygenic overlap and pleiotropic loci. Our integrative analyses suggest a potential 2-stage genetic framework linking ischemic susceptibility to myocardial remodeling and HF progression, which should be interpreted as a hypothesis-generating conceptual model rather than direct evidence of temporal progression. - Source: PubMed
Publication date: 2026/05/16
Liu RuikangSun ChiyunJiang NanLiu YangLi JunZhang FuyuanChen CongLiu YiyingQi XiaodiGuo BingtingYang Kai - Structural variants (SVs) are a major source of genetic variation yet remain underexplored in healthy aging and neurodegenerative diseases. We performed nanopore long-read genome sequencing (lrGS) on 551 deeply-phenotyped individuals from Stanford's Aging and Memory Study and Alzheimer's Disease Research Center, generating a comprehensive SV map integrated with matched methylation, transcriptomic, and proteomic data. Over 60% of SVs identified by lrGS were not detected with short-read WGS, including many poorly tagged by single-nucleotide variants (SNVs). We discovered >60,000 SV-QTLs across molecular traits and showed that SVs were more likely than SNVs to be fine-mapped as causal. Colocalization with Alzheimer's and Parkinson's disease GWAS implicated SVs at multiple loci, including , , and . Multi-omic outlier enrichment and Bayesian modeling prioritized rare functional SVs near known risk genes. Combined, these data reveal widespread regulatory SVs in healthy aging and neurodegeneration, underscoring the importance of lrGS in deciphering complex genetic architecture. - Source: PubMed
Publication date: 2025/10/29
Jensen Tanner DLe Guen YannTalozzi LiaYang SherryGorzynski JohnPeña-Tauber AndrésStewart IlariaFerrasse AlexisNachun DanielArriaga Maggie TLee JustinPulgrossi Rafael CatoiaPark JunyoungZhang JingyuWagner Anthony DMormino Elizabeth CPoston Kathleen LHenderson Victor WHe ZihuaiWyss-Coray TonyMontgomery Stephen BAshley Euan AGreicius Michael D - Next-generation sequencing (NGS) allows for the simultaneous sequencing of multiple cancer predisposition genes. We assessed the frequency and spectrum of germline variations in individuals with ovarian cancer (OC), using whole exome sequencing (WES). - Source: PubMed
Publication date: 2025/05/22
Guan XiaojingLiao ShengZhang FenglanZhu QianyuanQiu HaoQin LanZhang Xiao - Assessments of breast cancer (BC) risk in carriers of pathogenic variants identified by gene panel testing in different populations are highly in demand worldwide. We performed target sequencing of 78 genes involved in DNA repair in 860 females with BC and 520 age- and family history-matched controls from Central Russia. Among BC patients, 562/860 (65.3%) were aged 50 years or less at the time of diagnosis. In total, 190/860 (22%) BC patients were carriers of 198 pathogenic/likely pathogenic (P/LP) variants in 30 genes, while among controls, 32/520 (6.2%) carriers of P/LP variants in 17 genes were identified. The odds ratio [95% confidence interval] was 16.3 [4.0-66.7] for ; 12.0 [2.9-45.9] for ; and 7.3 [0.9-56.7] for ( < 0.05). Previously undescribed and variants, as well as novel recurrent mutations, were identified. The contribution to BC susceptibility of truncating variants in the genes , , , (p. E1155*), and (p. P32fs) was evaluated. The , , and genes did not demonstrate associations with BC risk. Finding deleterious mutations in BC patients is important for diagnosis and management; in controls, it opens up the possibility of prevention and early diagnostics. - Source: PubMed
Publication date: 2024/11/25
Shumilova SyuykumDanishevich AnastasiaNikolaev SergeyKrasnov GeorgeIkonnikova AnnaIsaeva DaryaSurzhikov SergeiZasedatelev AlexanderBodunova NataliaNasedkina Tatiana - Hematopoietic stem cells (HSCs) can generate all blood cells. This ability is exploited in HSC transplantation (HSCT) to treat hematologic disease. A clear understanding of the molecular mechanisms that regulate HSCT is necessary to continue improving transplant protocols. We identified the Beige and Chediak-Higashi domain-containing protein (BDCP), Neurobeachin (NBEA), as a putative regulator of HSCT. Here, we demonstrated that NBEA and related BDCPs, including LPS Responsive Beige-Like Anchor Protein (LRBA), Neurobeachin Like 1 (NBEAL1) and Lysosomal Trafficking Regulator (LYST), are required during HSCT to efficiently reconstitute the hematopoietic system of lethally irradiated mice. Nbea knockdown in mouse HSCs induced apoptosis and a differentiation block after transplantation. Nbea deficiency in hematopoietic progenitor cells perturbed the expression of genes implicated in vesicle trafficking and led to changes in NOTCH receptor localization. This resulted in perturbation of the NOTCH transcriptional program, which is required for efficient HSC engraftment. In summary, our findings reveal a novel role for NBEA in the control of NOTCH receptor turnover in hematopoietic cells and supports a model in which BDCP-regulated vesicle trafficking is required for efficient HSCT. - Source: PubMed
Ganuza MiguelMorales-Hernández AntonioVan Huizen AlannaChabot AshleyHall TrentCaprio ClaireFinkelstein DavidKilimann Manfred WMcKinney-Freeman Shannon