SCA6 GeneProber unlabeled probe
- Known as:
- SCA6 GeneProber unlabeled probe
- Catalog number:
- 40-2040-40
- Product Quantity:
- 500ng
- Category:
- -
- Supplier:
- Gene Link
- Gene target:
- SCA6 GeneProber unlabeled probe
Related genes to: SCA6 GeneProber unlabeled probe
- 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 GeneProber unlabeled probe
(+) Control probe (DNA), biotinylated(+) Control probe (RNA), biotinylated(-) Control probe (DNA), biotinylated(-) Control probe (RNA), biotinylated1 MATAL PROBE Tip1 metal probe tip (marked as 19-160-03)1 PLASTIC PROBE TIP1,1'-Dioctadecyl-3,3,3',3'-tetramethylindodicarbocyanine perchlorate, Red fluorescent membrane probe, 10mg1,1'-Dioctadecyl-3,3,3',3'-tetramethylindodicarbocyanine perchlorate, Red fluorescent membrane probe, 10mg1,1'-Dioctadecyl-3,3,3',3'-tetramethylindotricarbocyanine iodide, DiR, A lipophilic near-IR (NIR) fluorescent membrane probe used for labeling cells f1,1'-Dioctadecyl-3,3,3',3'-tetramethylindotricarbocyanine iodide, DiR, A lipophilic near-IR (NIR) fluorescent membrane probe used for labeling cells for long term analysis, 25mg1,1'_Dioctadecyl_3,3,3',3'_tetramethylindodicarbocyanine perchlorate, Red fluorescent membrane probe, 10mg1-[4-(Dimethylamino)phenyl]-6-phenylhexatriene (DMA-DPH), Fluorescent probe of lipid bilayer structure and dynamics, 100mg1-[4-(Dimethylamino)phenyl]-6-phenylhexatriene (DMA-DPH), Fluorescent probe of lipid bilayer structure and dynamics, 100mg10-Octadecylacridine orange bromide, Fluorescent Membrane Probe, 20 mg Related articles to: SCA6 GeneProber unlabeled probe
- Pathogenic expansions of short tandem repeats (STRs) cause over 70 neurological diseases. Here we performed a population-scale survey of pathogenic repeat expansions by analysing repeat length in 37 disease-associated STR loci in a diverse set of 1,020,833 samples using short-read sequencing whole-exome and whole-genome data. Consistent with previous findings, we found that the frequency of pathogenic repeats is higher than the prevalence of corresponding diseases for most loci. Associations of repeat length with 7,671 binary traits captured known locus-trait associations, including HTT and Huntington's disease, DMPK and myotonic disorders and C9orf72 and motor neuron disease, among others. Finally, we found that, even before disease diagnosis, repeat expansions in several loci strongly associate with increased levels of neurofilament light chain (NfL) and a loss of brain volume in specific disease-associated regions. For example, carriers of HTT expansions exhibited a 22.1% loss of putamen volume, and carriers of CACNA1A expansions showed a 24.6% loss of cerebellar volume. These observations suggest that both decreased brain volumes and increased NfL levels occur earlier than disease diagnosis. This study demonstrates the use of characterizing repeat expansions from short-read sequencing data in diverse population-scale cohorts and its application to epidemiology and clinical biomarker development. - Source: PubMed
Publication date: 2026/04/08
Pounraja Vijay KumarSul Jae HoonHerman JosephO'Keeffe SeanRajagopal VeeraBai XiaodongKessler Michael DParikshak NeelroopLandheer KarlZhang XingminYu SeanZhang LanceLeBlanc Michelle GRico-Varela JenniferGrau FredericWolf SarahSundaramoorthy SriramkumarSepehrband FarshidStahl Eli AHuo YudaAhmed MohsinCroll Susan Salerno WilliamOverton John DMarchini JonathanReid JeffreyLotta Luca ABaras Aris Abecasis Goncalo RCoppola GiovanniGelfman Sahar - Thrombopoietin receptor agonists (TPO-RAs) represent a cornerstone in immune thrombocytopenia (ITP) management, yet their molecular mechanisms remain incompletely elucidated. This study systematically deciphered the key targets and signaling networks of four TPO-RAs (romiplostim, eltrombopag, avatrombopag, hetrombopag) in ITP pathogenesis. Network pharmacology was integrated with single-cell high-dimensional weighted gene co-expression network analysis (hdWGCNA) using bone marrow scRNA-seq data from ITP patients and healthy controls. Metacell-based co-expression modules to hematopoietic bone marrow cells were identified. Drug targets were curated from multiple databases, and candidate genes were screened by intersecting differentially expressed genes (DEGs), cell specific modules, and TPO-RA targets. Molecular docking, pseudotime trajectory analysis, and in silico gene knockdown were employed for functional validation. Intersection analysis revealed five key genes (CACNA1A, CSF1R, PKN1, CD9, DSTYK). Molecular docking demonstrated strong binding affinities between TPO-RAs and key targets. The ITP bone marrow niche exhibited rewired cell-cell communication, with enhanced T cell-initiated signaling and aberrant megakaryocyte-T cell interactions. Pseudotime analysis uncovered disrupted megakaryocyte maturation dynamics. In silico knockdown revealed CACNA1A, CSF1R, and PKN1 dysregulation exacerbated neutrophil hyperactivity, while CD9 and DSTYK knockdown impaired mitotic regulation. This study delineated mechanisms of TPO-RAs, highlighting five key genes that orchestrate dysregulated thrombopoiesis and immune dysfunction in ITP. The integration of in silico strategies identified novel targets for optimizing ITP therapy. - Source: PubMed
Publication date: 2026/04/01
Wang WanruWang HaoxuWan XiaohanCao JunyingWang RuixueHou Ming - Familial hemiplegic migraine (FHM) is a severe autosomal dominant subtype of migraine with aura, characterized by transient motor weakness during attacks. Known genes (CACNA1A, ATP1A2, SCN1A, PRRT2) account for fewer than 20% of genetically diagnosed cases. To identify novel genetic contributors to FHM, we performed whole-genome linkage analysis and partial exome sequencing in a four-generation pedigree. A candidate ion channel gene (SCN2A) was subsequently screened in six additional pedigrees with multiple affected members and in a cohort of 594 unrelated probands with familial or sporadic hemiplegic migraine without mutations in known FHM genes. Functional consequences of identified variants were assessed using heterologous expression and automated patch clamp recording. The neurophysiological impact of SCN2A dysfunction was investigated using computational neuron models. We identified a heterozygous missense mutation (c.4438A>G, p.Lys1480Glu) in SCN2A, encoding the neuronal voltage-gated sodium channel NaV1.2, which co-segregated with the FHM phenotype. Additional SCN2A variants (c.769T>A, p.Phe257Ile, and c.3955C>G, p.Arg1319Gly) were found in a second family and a sporadic case, respectively. All variants were absent from the gnomAD database. All ten individuals carrying a SCN2A variant experienced typical hemiplegic migraine attacks beginning in childhood. Two children heterozygous for p.Phe257Ile also had self-limited infantile seizures during the first year of life. None of the affected individuals exhibited permanent cerebellar ataxia, intellectual disability, or recurrent febrile coma. Functional studies revealed altered voltage-dependent and kinetic properties in all three variants that elicited abnormal action potential firing in a computer model of a neuron, supporting their pathogenicity. These findings implicate SCN2A dysfunction in both familial and sporadic hemiplegic migraine, expanding the genetic landscape of migraine and the phenotypic spectrum associated with SCN2A variants. - Source: PubMed
Publication date: 2026/03/26
Riant FlorenceThompson Christopher HWafa Syed M AFenton Timothy ADeKeyser Jean-MarcAbramova Tatiana VDesai Reshma RGazal StevenMoulin ThierryChaigne DenysKort LotfiCorpechot MichaelleTournier-Lasserve ElisabethBen-Shalom RoyGeorge Alfred LDucros Anne - Episodic ataxia type 2 (EA2) is caused by loss-of-function mutations in CACNA1A, resulting in P/Q-type Ca channel dysfunction in cerebellar Purkinje cells (PCs) causing ataxia and stress-induced dystonia. Using Cacna1a () mice, which display selective P/Q-type channels deletion in PCs, the effects of adrenergic receptor (AR) blockade on stress-induced dystonia were examined. Systemic administration of the α1-AR antagonist prazosin increased dystonia frequency, but shortened attack duration, while the α1D-AR selective antagonist BMY-7378 significantly reduced dystonia occurrence without altering onset or duration. Strikingly, universal blockade of α2-ARs using yohimbine, as well as agonist of α2A-AR autoreceptors completely abolished stress-induced dystonia. Electrophysiological recordings of cerebellar PCs demonstrated that norepinephrine (NE) strongly inhibited the PC simple spike firing, which was partially rescued by yohimbine, implicating α2-AR-dependent modulation of PC activity. Histological analysis of mice revealed increased dopamine--hydroxylase (DβH) immunoreactivity on PC somata, which was accompanied by increased numbers of noradrenergic neurons in locus coeruleus (LC), indicating enhanced cerebellar noradrenergic innervation. These findings strengthen the idea that stress-induced dystonia formation is facilitated by increased noradrenergic innervation to cerebellar PCs and suggest that α2-AR signalling contributes to dystonia in EA2. Our findings emphasise cerebellar ARs as promising therapeutic targets in EA2. - Source: PubMed
Publication date: 2026/03/02
Bohne PaulineGrömmke MichelleRybarski MaxNair TejasMark Melanie D - Rare Mendelian disorders affect 300-400 million people globally. Although genetic testing has become widely adopted, gene-specific evidence for tailored variant interpretation remains scattered across resources. We present Gene Portals, a framework for gene-centered multimodal knowledge bases that co-localize expert-harmonized clinical data, functional assays, population variation, structural annotations and gene-specific ACMG/AMP specifications within a single resource. A modular interface integrates this unified evidence with VCEP-refined ACMG specifications to enable automated gene-specific variant classification, infer molecular mechanisms, and support cross-gene analyses. We demonstrate the framework's utility across five Gene portals spanning eleven neurodevelopmental disorder-associated genes, integrating data from 4,423 individuals with 2,838 unique variants, 36,149 ClinVar submissions, and 1,044 expert-curated molecular readouts. By organizing evidence that is otherwise dispersed across multiple sources into a unified, queryable framework, the SCN, GRIN, CACNA1A, SATB2 and SLC6A1 Gene Portals became widely used community resources and provide an extensible template for standardized rare-disease variant interpretation and mechanism-aware discovery. - Source: PubMed
Publication date: 2026/03/06
Brünger TobiasKrey IlonaKim SuyeonKlöckner ChiaraMyers Scott JJohannesen Katrine MStefanski ArthurTaylor GaryPerez-Palma EduardoMacnee MarieSchorge StephanieDahl Rebekka SYuan HongjiePerszyk Riley EKim SukhanBajaj SunanjayHelbig IngoPan Jen QFarrant MarkWollmuth LonnieWyllie David J AKurganov ErkinBaez DavidZuberi SameerBoßelmann Christian MLerche HolgerMantegazza MassimoCestèle SandrineMay PatrickIvaniuk AlinaMeskis Mary AnneHood VeronicaSchust LeahGoodspeed KimberlyKang Jing-QiongFreed AmberGati CorneliusMontanucci LudovicaWuster ArthurTrinidad MarenaFroelich StevenDeng Alexander TSerrano Ángel AledoBorovikov ArtemSharkov ArtemBouman ArjanHajianpour M JPal Deb KDanvoye LeslieLederer DamienBalci Tugce RHagebeuk Eveline E OHeidlebaugh AlexisOetjens KathrynHoffman Trevor LStriano PasqualeWilliams Sarah Drewesvan Engelen KaleneHowell Katherine BKhoury JeanBenke Tim AStrehlow VincentPlatzer KonradRamsey AmyManaster LisaMalepati SunithaFox PangkongNoebels JeffreyChung WendyPoduri AnnapurnaStripe Laina LuskRuggiero Sarah MCohen StaceySmith LaceyBoesch SylviaWilmarth OliviaPrentice Anna JenneCha EstherBudnik NikitaHommersom Marina PKramer AudraVanoye Carlos GZhang Guo-QiangNothnagel MichaelPalotie AarnoDaly Mark JGeorge Alfred LZarate Yuri ABrunklaus AndreasTraynelis Stephen FMøller Rikke SLemke Johannes RLal Dennis