SCA6 PCRProber (Oligo AP labeled)
- Known as:
- SCA6 PCRProber (Oligo AP labeled)
- Catalog number:
- 40-2040-31
- Product Quantity:
- 5blots
- Category:
- -
- Supplier:
- Gene Link
- Gene target:
- SCA6 PCRProber (Oligo labeled)
Related genes to: SCA6 PCRProber (Oligo AP labeled)
- Gene:
- CACNA1A NIH gene
- Name:
- calcium voltage-gated channel subunit alpha1 A
- Previous symbol:
- CACNL1A4, SCA6, MHP1, MHP
- Synonyms:
- Cav2.1, EA2, APCA, HPCA, FHM
- Chromosome:
- 19p13.13
- Locus Type:
- gene with protein product
- Date approved:
- 1996-06-18
- Date modifiied:
- 2019-04-23
Related products to: SCA6 PCRProber (Oligo AP labeled)
(2-5')oligo(A) synthase 1B,2-5A synthase 1B,2'-5'-oligoadenylate synthase 1B,2'-5'-oligoadenylate synthase-like protein 1,Mouse,Mus musculus,Oas1b,Oias2(2-5')oligo(A) synthase 2,2-5A synthase 2,2'-5'-oligoadenylate synthase 2,Homo sapiens,Human,OAS2,p69 OAS _ p71 OAS,p69OAS _ p71OAS(Arg)9 biotin labeled(Arg)9, FAM - labeled(Arg)9, FAM - labeled(Arg)9, FAM - labeled(Arg)9, FAM - labeled(Arg)9, FAM - labeled(Arg)9, FAM _ labeled(Arg)9, FAM _ labeled(Arg)9, TAMRA - labeled13C labeled13C labeled13C labeled13C labeled Related articles to: SCA6 PCRProber (Oligo AP labeled)
- High-throughput transcriptomic technologies have advanced rapidly, enabling genome-wide gene expression profiling. Microarrays, introduced in 1995, laid the foundation for large-scale analysis but were later surpassed in 2008 by RNA sequencing (RNA-seq), which offers single-nucleotide resolution, detects low-abundance transcripts, and does not require prior sequence knowledge. Bulk RNA-seq provides robust insights into global transcriptomic changes but lacks single-cell resolution. Single-cell RNA-seq (scRNA-seq), introduced in 2009, addressed this limitation by revealing cellular heterogeneity and dynamic gene expression. However, its application in bone research is constrained due to difficulties in releasing bone cells called osteocytes from the mineralized matrix, often resulting in low yield and dissociation-induced artifacts. In order to address these challenges, single-nucleus RNA-seq (snRNA-seq), first introduced in 2016 to enable transcriptomic profiling from isolated nuclei, was used in this study. We developed a protocol for snRNA-seq on bone tissue, achieving high-yield recovery of osteocyte nuclei from snap-frozen, marrow-flushed long bones. This approach minimized dissociation bias and enhanced osteocyte representation. We applied this robust method to long bones from young adult male and female mice, generating a high-resolution map of osteocyte gene expression under physiological conditions. Compared to scRNA-seq datasets, where osteocytes represent only 0.18%-6.64% of cells, our snRNA-seq approach increased osteocyte capture and transcriptomic fidelity to 18.5%. We identified an osteocyte transcriptomic signature highlighting the top 30 genes, including , which is typically undetected or lowly-expressed in scRNA-seq. Notably, 23 of these genes have not been well-characterized in osteocytes, including , , , , , , and , which may represent novel regulators of osteocyte biology. This study represents the first application of snRNA-seq specifically for osteocyte analysis in bone tissue, providing a valuable resource for investigating osteocyte biology and skeletal disorders. - Source: PubMed
Publication date: 2026/03/26
Kitase YukikoJi JiaBonewald Lynda FPrideaux MatthewRoh Hyun CheolPeng Gang - Short tandem repeat expansions are associated with over 50 diseases, many with primary neurological presentations. Despite the prevalence of short tandem repeat expansion disorders, genetically diagnosing these conditions is complicated by a lack of efficient and comprehensive diagnostic screening approaches. We integrated a new short tandem repeat genotyping tool, STRipy, into the analytical workflow for short-read sequencing data generated by the comprehensive neurological disease gene panel used in the Diagnostic Genomics Department, PathWest Laboratory Medicine. We tested STRipy on Versions 6 and 7 of the panel. Version 6 already included probes covering five short tandem repeat expansion loci in the following genes: , , , and . Additional probes targeting 13 neurological disease short tandem repeat expansion loci were designed and included in Version 7. All expansions detected by STRipy were validated and sized using PCR-based diagnostic techniques. Four hundred and eighteen patients with ataxia were tested on Version 6 of the panel, and 61 (14.6%) had reportable pathogenic variants, including 11 patients with pathogenic repeat expansions detected by STRipy. Sixty-seven ataxia patients were tested on Version 7 of the panel, and 15 (22.4%) had reportable pathogenic variants, including three repeat expansions detected by STRipy. Therefore, STRipy contributed 18.0% and 20.0% of the solved cases from Version 6 and 7 of the ataxia subpanels, respectively. STRipy accurately identified and sized loci with shorter pathogenic repeat thresholds where the expansion was smaller than the read length. In addition to increased diagnostic yield, implementation of STRipy into diagnostic analysis pipelines has streamlined clinical diagnosis of short tandem repeat expansion disorders. - Source: PubMed
Publication date: 2026/03/16
Scriba Carolin KFolland ChiaraBlack MichaelBaker JessicaAbromeit DanielSaw SamanthaChiew Mei-TingGooding RebeccaLaing Nigel GDavis Mark RRavenscroft Gianina - Pathogenic gene variants are relatively common in patients with neurodevelopment disorders comorbid with catatonia. In this report, we describe diagnosis and the treatment of catatonia in a 16-year-old boy with a CACNA1A pathogenic variant (which is associated with deficit in neuronal communication and neurotransmitter release). This case describes an adolescent with a CACNA1A pathogenic variant and autism spectrum disorder who develops catatonia and was safely and successfully treated with bilateral electroconvulsive therapy (ECT). Additionally, we describe a unique presenting symptom of climbing behaviors that was contextualized as a symptom of catatonia and discuss psychopharmacological interventions. To monitor treatment response, we utilized observational data collected by a behavior analyst, as well as physician and parent report via Busch-Francis Catatonia Rating Scale and Catatonia Impact Scale respectively. All three reports showed significant improvement in catatonic symptoms following treatment with ECT. The overall aim is to improve the management of catatonia in rare genetic disorders, demonstrate effective use of ECT in cases with this pathogenic variant, and provide guidance to clinicians and hope for patients and families struggling with this comorbidity. - Source: PubMed
Publication date: 2026/04/10
Abdole LanaReynard Hannah LouiseInce H YavuzPalffy AlexanderJackson JamesGhaziuddin Neera - To explore the clinical features and molecular genetic characteristics of epilepsy related to fever sensitivity caused by various types of gene mutations, and to analyze the relationships of genotype and clinical phenotype with clinical treatment efficacy. - Source: PubMed
Publication date: 2026/04/09
Wang YanpingZhang LinMa JingboJing MiaoHua YingLiu YanshanFan Xiaochun - Familial Hemiplegic migraine (FHM) is a rare migraine subtype characterised by transient unilateral motor weakness. Although familial forms are associated with variants in CACNA1A, ATP1A2, and SCN1A genes, many cases remain genetically unexplained, suggesting contributions from additional rare variations including single-nucleotide variants (SNVs) and copy-number variants (CNVs). - Source: PubMed
Publication date: 2026/04/24
Alfayyadh Mohammed MMaksemous NevenSutherland Heidi GLea Rodney AGriffiths Lyn R