SOX6 Pre-design Chimera RNAi
- Known as:
- SOX6 Pre-design Chimera RNAi
- Catalog number:
- H00055553-R01
- Product Quantity:
- 10 nmol
- Category:
- -
- Supplier:
- Abno
- Gene target:
- SOX6 Pre-design Chimera RNAi
Related genes to: SOX6 Pre-design Chimera RNAi
- Gene:
- SOX6 NIH gene
- Name:
- SRY-box 6
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 11p15.3
- Locus Type:
- gene with protein product
- Date approved:
- 2002-02-15
- Date modifiied:
- 2015-11-23
Related products to: SOX6 Pre-design Chimera RNAi
Related articles to: SOX6 Pre-design Chimera RNAi
- Cells derived from the endocardium, epicardium, cardiac neural crest, and second heart field play a critical role in the formation of the valvuloseptal structures of the heart. Previous studies have shown that the expression of the transcription factor SOX9 in these cell populations is essential in the regulation of this process. SOX9 interacts with other SOX family members including SOX5 and SOX6 to cooperatively regulate other developmental events. Although SOX6 has documented roles in the postnatal heart, its role in cardiac development has not yet been examined. For the current study we decided to investigate the importance of SOX6 in valvuloseptal morphogenesis. Expression studies revealed that SOX6 is expressed in many of the cell lineages that contribute to the formation of the heart. Given the pattern of SOX6 expression in the endocardium and endocardial-derived cells as well as in the coronary endothelium, we focused on the role of SOX6 in these cell populations by generating endothelial/endocardial-specific Sox6 knockout mice. These conditional knockout mice presented with ventricular septal defects, enlarged atrioventricular valves, and coronary abnormalities. Cardiovascular defects observed in the endothelial/endocardial-specific Sox6 knockout mouse demonstrate that SOX6 plays an important role in valvuloseptal development. - Source: PubMed
Publication date: 2026/07/09
Tarolli Hannah GHarvey Andrew BDevji InaraDeepe Raymond NDrummond Jenna RWolters Renélyn AWessels Andy - Parkinson's disease (PD) and cutaneous melanoma show epidemiological co-occurrence, but their shared genetic architecture remains unclear METHODS: We combined bidirectional time-dependent cox regression in the UK biobank (N ≈ 500,000) with a multi-layered genomic analysis using large-scale PD and melanoma GWAS summary statistics (N = 745,746). Genetic analyses included linkage disequilibrium score regression (LDSC), bidirectional Mendelian randomization (MR), PLACO, LAVA, and Bayesian colocalization RESULTS: Melanoma was associated with increased subsequent PD risk (HR = 1.62, 95% CI: 1.18-2.23), whereas the reverse PD-to-melanoma analysis was not statistically significant and was limited by low event counts. LDSC showed a modest positive genetic correlation (rg = 0.181, P = 0.04), while MR provided no evidence of bidirectional causality. PLACO identified 134 pleiotropic SNPs across 25 gene loci, including SOX6, the GDF5-GSS-EDEM2 cluster, and immune-related loci at 17q21.32. LAVA identified 17 locally correlated loci, with antagonistic effects predominating (11/17, 64.7%). Bayesian colocalization highlighted SOX6 as the strongest shared-signal locus (PP·H4 = 0.904; PP·H3 = 0.054) CONCLUSIONS: PD-melanoma co-occurrence is supported by shared but heterogeneous genetic architecture rather than bidirectional causality. Antagonistic local effects may partially offset genome-wide correlation, while SOX6 represents a prioritized colocalized candidate locus linking dopaminergic neuron vulnerability and melanocytic biology. - Source: PubMed
Publication date: 2026/06/23
Li CaihongBaur AndreasPan Lingfeng - Human midbrain organoids (hMOs) derived from induced pluripotent stem cells provide a powerful system to model disorders involving dopamine (DA) dysfunction, including Parkinson's disease (PD) and neuropsychiatric conditions. However, current differentiation protocols still fall short in recapitulating early specification, substantia nigra pars compacta (SNpc)-like identity, and the functional maturation of vulnerable DA neurons. Here, we established a differentiation strategy that combines tri-phasic WNT modulation with dynamic bioreactor culture to generate hMOs enriched in SNpc-like DA neurons. This approach significantly increases the yield of TH⁺/GIRK2⁺ and TH⁺/ALDH1A1⁺ DA neurons and promotes enhanced synaptic maturation, robust electrophysiological activity, and elevated DA release. Single-cell transcriptomics revealed that this strategy drives the emergence of SOX6/GIRK2 SNpc-like neurons, accompanied by upregulation of synaptic, metabolic, and maturation programs, alongside reduced cell stress and apoptotic signaling. Importantly, hMOs demonstrated vulnerability upon exposure to α-synuclein preformed fibrils, resulting in aggregate formation and DA neuron degeneration, supporting their use as a human model of PD-relevant pathology. Overall, this system provides a scalable and physiologically relevant approach to investigate molecular mechanisms underlying neurodegeneration and DA-related disorders. - Source: PubMed
Publication date: 2026/06/17
Raji HariamBertoli FedericoPerez Maria JoseLam AliciaVolpicelli-Daley LauraDeleidi Michela - India possesses a rich diversity of indigenous cattle that are well adapted to varied agro-climatic regions. These populations exhibit remarkable variation in stature (height at withers), ranging from short-statured types such as Vechur, Punganur, Malnad Gidda, and Khariar to tall and heavy breeds like Kankrej, Ongole and other milch breeds (Sahiwal, Gir, etc.). The short-statured breeds offer potential advantages in feed efficiency, disease resilience, and cultural value besides being economical to maintain. However, their genetic basis for stature remains underexplored. This study leverages whole-genome resequencing (WGS) data on short-statured (n = 19) and tall (Kankrej as representative; n = 19) Indian cattle to delineate the copy number variation (CNV) landscape and selection signatures underpinning stature divergence. Post-quality control, CNVs were detected from duplicate-marked bam files using CNVnator with read-depth methodology, filtered (q0 < 0.5, p < 0.01, size 1 kb-5 Mb), and concatenated into CNV regions (CNVRs). Selection signatures were identified using cross population extended haplotype homozygosity (XP-EHH) methodology for inter-population comparison of short-statured cattle with tall cohort. Genes harboured under CNVRs and sweep windows were annotated using GALLO, with functional mining from literature databases. In short-statured cattle, 41,913 CNVs were concatenated into 10,075 CNVRs, with 8.01% genomic coverage. A total of 25 genes were found to be common across two analyses i.e., unique (non-overlapping) CN regions in 70% short-statured individuals and scan of selection signature. Key genes across the analyses included IGF1R (cell proliferation), FGFR3 (skeletal growth), SOX6 (body size), EXT2/LGR4 (bone density), PRKCD (developmental regulation), ADAMTSL2 (extracellular matrix integrity), SLC25A6 (glucose metabolism), and SDHA (energy supply). Unique non-overlapping copy number regions (e.g., 78 regions found in 100% of dwarf individuals) harbored several genes, including ARL13B (osteogenesis), AXIN2 (bone remodeling), CCND2 (myogenesis), and TNNT1 (muscle contraction). This comprehensive CNV map and scan for signatures of selection unveil stature-associated genomic variants, informing conservation strategies for threatened short-statured breeds by enhancing their socio-economic value through targeted breeding. The findings underscore CNVs as pivotal drivers of phenotypic diversity in cattle populations, with implications for livestock genomics and sustainable agriculture. - Source: PubMed
Publication date: 2026/06/08
Ahmad Sheikh FirdousAarif OvaisHassan Mir MehrozChand RoshniGangwar MunishT Sarath KumarKumar Amit - Adolescent idiopathic scoliosis (AIS), the spontaneous development of a lateral spine curvature during puberty, is the most common pediatric spine disorder, affecting ∼3% of children worldwide. As the underlying etiology remains unclear, AIS is treated purely symptomatically, initially by bracing and ultimately by highly invasive, costly surgeries. Genome-wide association studies (GWASs) have identified numerous risk loci in non-coding genomic regions, making it difficult to link them to a biological function. To address this, we performed a multi-tissue investigation to connect genetic risk to tissue-specific molecular pathology. We conducted RNA sequencing on the primary tissues implicated in AIS, paraspinal muscle and spinal cartilage, from patients and unaffected control subjects. In paraspinal muscle, we identified differentially expressed genes (DEGs) enriched for pathways related to muscle structure, myogenesis, and metabolism. Key upregulated genes include the transcription factor EGR1 and structural components, such as MYH1. In spinal cartilage, we found enrichment of genes related to TGFβ and FoxO signaling, as well as metabolic pathways. Notably, genes crucial for chondrocyte differentiation (e.g., SOX5 and SOX6) were significantly downregulated. We then examined genes at known GWAS loci and found that several risk-associated genes were differentially expressed in one or both tissues. To investigate the function of non-coding variants at these loci, we identified and validated several enhancer elements harboring AIS risk SNPs at the BCL2, ADGRG6, BNC2, and FTO loci. We reveal distinct pathological signatures in muscle and cartilage and lay the foundation for connecting non-coding genetic risk to the dysregulation of key developmental and structural pathways. - Source: PubMed
Publication date: 2026/06/04
Ramkhalawan DariusParrales PaolaKoesterich JustinMontoya-Vazquez GloriaCuna CarlosKreimer AnatMcQuerry JessicaIhnow StephanieMakki Nadja