Ask about this productRelated genes to: FLJ30934 antibody
- Gene:
- SNX32 NIH gene
- Name:
- sorting nexin 32
- Previous symbol:
- SNX6B
- Synonyms:
- FLJ30934
- Chromosome:
- 11q13.1
- Locus Type:
- gene with protein product
- Date approved:
- 2008-02-25
- Date modifiied:
- 2015-09-02
Related products to: FLJ30934 antibody
Related articles to: FLJ30934 antibody
- Arteriovenous fistula (AVF) is the preferred vascular access for hemodialysis; however, its patency is limited, particularly in patients with diabetes mellitus (DM). This study aimed to obtain exploratory data on whether changes in the venous transcriptome are present at the time of AVF creation in patients with DM and whether these changes are related to the graft prognosis. - Source: PubMed
Publication date: 2026/08/06
Shirouzu TomohiroKoga Jun-IchiroKatafuchi EisukeNagai YoichiroSuga RyotaSanada KenyaUeno HiromichiNakazono KazutoshiHasegawa EmiMiyamoto TetsuNakayama ToshiyukiKataoka Masaharu - Epidemiological and clinical observations linking schizophrenia (SCZ) to increased dementia risk, together with the occurrence of psychosis in Alzheimer's disease and related dementias (ADRD), suggest that shared genetic liabilities may contribute to their co-occurrence. Leveraging large-scale genome-wide association study summary statistics for SCZ (53,386 cases and 77,258 controls) and ADRD (111,326 cases and 677,663 controls), we systematically investigated their shared genetic architecture and potential biological mechanisms. We identified three significant local genetic correlations (P < 2.0 × 10⁻⁵) and cross-trait polygenic enrichment between SCZ and ADRD, with 39 genomic loci jointly associated at conjunctional false discovery rate (conjFDR) < 0.05. Fifteen high-confidence genes (CNIH4, CD302, PCGF3, TFR2, EPHX2, SNX32, EFEMP2, CTSW, ASPHD1, TAOK2, INO80E, DOC2A, MAPK3, KANSL1, and XPNPEP3) were consistently prioritized across positional, expression quantitative trait locus, and chromatin-interaction mapping. Tissue- and cell-type enrichment analyses highlighted cerebellar tissues and ependymal-cell-related signals, while pathway analyses implicated synaptic signaling, axonal growth, and presynaptic structural organization. At the locus level, colocalization and transcriptome-wide association analyses converged on 16p11.2, prioritizing INO80E, YPEL3, SLX1B, and TMEM219. Developmental trajectory modeling further revealed region- and stage-specific expression divergence of prioritized 16p11.2 genes, with prominent differences spanning childhood and adulthood. Brain-wide association analysis linked the 16p11.2 lead variant rs9932702 to cortical gray-white contrast (β = -0.062, P = 7.5 × 10⁻¹⁵), a neuroimaging phenotype related to gray-white boundary microstructure and myelination. Finally, bidirectional Mendelian randomization supported a modest directional association between genetic liability to SCZ and increased ADRD risk, but not the reverse direction. Collectively, these findings provide convergent genetic, regulatory, transcriptomic, developmental, and imaging evidence for partial shared liability between SCZ and ADRD, highlighting 16p11.2 and biological processes related to neurodevelopment, synaptic and axonal organization, myelination-related microstructure, and later-life brain vulnerability. - Source: PubMed
Publication date: 2026/07/01
Chen YuCheng LeiWang QiLiu QingLi WenqiangWang ChuanshengLv LuxianYue Weihua - GWAS typically focus on SNPs, often excluding complex genetic variants, such as short tandem repeats. Here, we report the results of GWAS analyses systematically assessing the role of short tandem repeats, both imputed and directly genotyped by whole genome sequencing, on risk for Alzheimer's disease in a large collection of ~330,000 individuals (3287 cases; 47,048 Alzheimer's disease-by-proxy cases, 283,111 controls) from the UK biobank. Using short tandem repeat genotype data, we identify 15 independent loci showing evidence for genome-wide significant association with Alzheimer's disease risk. While most identified loci had already been highlighted by SNP-based GWAS, we detect short tandem repeat-based signals near the genes SNX32 (chr. 11q13) and WSB1 (chr. 17q11). In addition, we delineate several other loci where short tandem repeats (and not SNPs) either represent the lead signal (ABCA7) or make substantial contributions to the SNP-driven associations (HLA-DRB1, MINDY/ADAM10, and APOE). Heritability analyses estimate that short tandem repeats account for at least 3% of the total phenotypic variance of Alzheimer's disease in this dataset. Aligning our top short tandem repeats with DNA methylation and transcriptome profiles from human brain samples suggests that several short tandem repeats may unfold their effects by impacting gene expression. - Source: PubMed
Publication date: 2026/06/04
Gmelin DavidOhlei OlenaAslam M MuaazJunge Marit PParkkinen LauraMullin KristinaProkopenko DmitryLill Christina MTanzi Rudolph EDobricic ValerijaBertram Lars - Most Alzheimer disease (AD) susceptibility genes have poorly understood roles in the central nervous system (CNS). To address this gap, we systematically characterized 100 conserved candidate AD risk genes using a cross-species strategy in the fruit fly, Drosophila melanogaster. Genes were prioritized based primarily on human functional genomic evidence. We generated custom loss-of-function alleles for each of the conserved fly orthologs. Most of the genes are expressed in the adult brain, including 24 neuron- and 13 glia-specific expression patterns. Overall, we identify 50 candidate AD risk gene homologs with requirements for CNS structure or function, including 18 whose loss of function causes neurodegeneration (e.g., Snx6/SNX32 and ClC-a/CLCN1), 35 required for neurophysiology (e.g., Arr1/ARRB2 and stai/STMN4), and eight with diminished CNS resilience following a thermal or mechanical stress (e.g., cindr/CD2AP and Amph/BIN1). In a parallel screen, we found 28 AD risk gene homologs (e.g., Ets98B/SPI1 and Yod1/YOD1) that modify the neurotoxicity of either amyloid-β peptide or tau protein, which aggregate to form AD pathology. To translate our findings back to human AD, we used oligogenic risk scores based on gene clusters with shared nervous system phenotypes in flies, pinpointing functional pathways that differentially drive AD risk. Our results-available online via the Alzheimer's Locus Integrative Cross-species Explorer portal-reveal nervous system requirements for dozens of AD risk genes and may enable dissection of causal heterogeneity in AD. - Source: PubMed
Publication date: 2025/10/29
Deger Jennifer MHannan Shabab BGu MingxueStrohlein Colleen EGoodman Lindsey DPasupuleti SasidharShaik ZahidMa LiwenLi YarongLi JiayangStephens Morgan CTyrlík MichalLiu ZhandongAl-Ramahi IsmaelBotas JuanShaw Chad AKanca OguzBellen Hugo JShulman Joshua M - Most Alzheimer's disease (AD) susceptibility genes have poorly understood roles in the central nervous system (CNS). To address this gap, we systematically characterized 100 conserved candidate AD risk genes using a cross-species strategy in the fruit fly, . Genes were prioritized based primarily on human functional genomic evidence. We generated custom, loss-of-function alleles for each of the conserved fly orthologs. Most of the genes (80%) are expressed in the adult brain, including 24 neuron- and 13 glia-specific expression patterns. Overall, we identify 50 candidate AD risk gene homologs with requirements for CNS structure or function, including 18 whose loss of function causes neurodegeneration (e.g., and ), 35 required for neurophysiology (e.g., /), and 8 with diminished CNS resilience following a thermal or mechanical stress (e.g., , ). In a parallel screen, we found 28 AD risk gene homologs (e.g, , ) that modify the neurotoxicity of either amyloid-β peptide or tau protein, which aggregate to form AD pathology. To translate our findings back to human AD, we developed and deployed oligogenic risk scores based on gene clusters with shared nervous system phenotypes in flies, pinpointing functional pathways that differentially drive AD risk. Our results-available online via the Alzheimer's Locus Integrative Cross-species Explorer (alice.nrihub.org)-reveal novel nervous system requirements for dozens of AD risk genes and may enable dissection of causal heterogeneity in AD. - Source: PubMed
Publication date: 2025/07/30
Deger Jennifer MHannan Shabab BGu MingxueStrohlein Colleen EGoodman Lindsey DPasupuleti SasidharShaik ZahidMa LiwenLi YarongLi JiayangStephens Morgan CTyrlík MichalLiu ZhandongAl-Ramahi IsmaelBotas JuanShaw Chad AKanca OguzBellen Hugo JShulman Joshua M