AGRIN_RAT Agrn ELISA tesk kit
- Known as:
- AGRIN_RAT Agrn Enzyme-linked immunosorbent assay test tesk reagent
- Catalog number:
- gen16796
- Product Quantity:
- 1
- Category:
- Peptides
- Supplier:
- Other suppliers
- Gene target:
- AGRIN_RAT Agrn ELISA tesk kit
Related genes to: AGRIN_RAT Agrn ELISA tesk kit
- Gene:
- AGRN NIH gene
- Name:
- agrin
- Previous symbol:
- AGRIN
- Synonyms:
- -
- Chromosome:
- 1p36.33
- Locus Type:
- gene with protein product
- Date approved:
- 1992-02-14
- Date modifiied:
- 2019-04-23
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- Hereditary neuromuscular disorders in dogs can be difficult to classify since variants in different genes can result in similar clinical signs or variable phenotypes can be associated with the same DNA sequence variant. A disorder known for many years as Dancing Doberman Disease, suspected to be neuropathy or neuromyopathy, is characterized by repeated lifting and shifting of the pelvic limbs while standing and frequent sitting. More recently, Doberman Pinschers have been identified with a different and more severe phenotype characterized by a crouched stance and bunny hopping gait in the pelvic limbs that is termed duck walking. Dogs with both phenotypes show pelvic limb weakness, muscle atrophy, and fatigue, and clinical signs can progress to involve the thoracic limbs. These distinct phenotypes were evaluated clinically, histologically, and by whole-genome sequencing and genotyping a large cohort of affected and unaffected Doberman Pinschers. The same homozygous missense variant in (Dog 10K Boxer Tasha chr5:56,346,611,G>A; p.R1710H, XP 038377340.1) was associated with both disorders. encodes Agrin, an essential synaptic protein, that mediates clustering of acetylcholine receptors on the post-synaptic membrane at the neuromuscular junction. Variants in are associated with a congenital myasthenic syndrome (CMS) in humans. This is the first report of a CMS in dogs associated with an variant and expands the spectrum of known CMS genetic risk factors in this species. This study also highlights the importance of whole-genome sequencing (WGS) to accurately classify neuromuscular diseases as forms of CMS, which is not possible based on clinical presentation alone. - Source: PubMed
Publication date: 2026/07/28
Shelton G DianeCoates Joan RSteiss Janet EGuo Ling TPlatt Simon RMinor Katie MFriedenberg Steven GCullen Jonah NBullock GarrettHansen Elizabeth AKatz Martin LJohnson Gary S - Neuromuscular disorders (NMDs) affect approximately 1 in 1,000 individuals and are clinically and genetically heterogeneous. Despite advances in genomic diagnostics, many cases remain unsolved after initial sequencing. Bioinformatic reanalysis approaches provide opportunities to identify missed variants and establish novel disease genes. - Source: PubMed
Publication date: 2026/07/20
Malaichamy SivasankarPolavarapu KiranThompson RachelIdoux RomaneSpendiff SallyKarcagi VeronikaHerczegfalvi AgnesAlmomen MomenScola Rosana HerminiaLorenzoni Paulo JoséZanoteli EdmarZambon Antonio AlbertoCamelo Clara GontijoEstephan Eduardo de PaulaGeetha Thenral SRamprasad Vedam LVengalil SeenaNashi SaraswatiKeerthipriya MuddassuBaskar DiptiPreethish-Kumar VeeramaniKotambail AnanthapadmanabhaMuhmann DavidSchara-Schmidt UlrikeLaurie StevenMatalonga LeslieBeltran SergiRoos AndreasBarić IvoNalini AtchayaramLochmüller Hanns - Congenital myasthenic syndromes (CMS) are inherited disorders caused by mutations in genes encoding proteins essential for neuromuscular junction (NMJ) function. Pathogenic variants have been identified in more than 35 genes, underscoring the complexity of synaptic biology and the wide range of mechanisms that can compromise neuromuscular transmission. Among these, CMS due to mutations in AGRN, LRP4, and MUSK genes represent presynaptic and postsynaptic defects that offer valuable mechanistic insights. These mutations impair agrin/LRP4/MuSK signaling, disrupt NMJ formation and stability, and underlie phenotypes with variable clinical presentations, ranging from ptosis and fatigability to distal, bulbar, or respiratory weakness. These subtypes often show limited efficacy or even clinical worsening with acetylcholinesterase inhibitors, whereas adrenergic agonists such as salbutamol or ephedrine can provide significant benefit in selected cases. The study of these forms not only provides key insights into the molecular regulation of synapse development and maintenance, but also illustrates the challenges of establishing genotype-phenotype correlations in rare diseases, in which inter-individual variability complicates diagnosis and management. Recent advances in next-generation sequencing and functional studies have expanded the recognized mutation spectrum, uncovered novel pathogenic mechanisms, and improved the accuracy of molecular diagnosis. In this review, we provide a comprehensive overview of AGRN, LRP4, and MUSK-related CMS, integrating clinical, genetic, and mechanistic data from patients and experimental models. By highlighting diagnostic strategies, pathogenic pathways, and emerging therapeutic concepts, we show how these rare subtypes refine our understanding of NMJ biology and open the way toward personalized and mechanism-based treatments. - Source: PubMed
Publication date: 2026/07/01
Villar-Quiles Rocio-NurSternberg DamienNougues Marie-ChristineIsapof ArnaudEymard BrunoBauché Stéphanie - Agrin-congenital myasthenic syndrome (AGRN-CMS) is a rare, heterogeneous genetic disorder of the neuromuscular transmission that can present from infancy to adulthood. The clinical phenotype includes distal weakness mimicking distal myopathies. Additionally, electromyography and muscle biopsy may demonstrate myopathic features, increasing the diagnostic challenge. Mitochondrial dysfunction has not been reported in the muscle of AGRN-CMS patients. - Source: PubMed
Oku Mariana ManoelNiu ZhiyvSelcen DuyguLitchy William JMilone Margherita - Diffuse glioma is the most common and lethal primary malignant brain tumor, with a complicated tumor microenvironment reported. However, the role of the extracellular matrix (ECM) in diffuse gliomas remains unclear. - Source: PubMed
Publication date: 2026/05/25
Li ZhuoqunYang PingNing ZuojunShi JiJiang TaoChen JingZhang Kenan