RAPSN _ Rapsyn
- Known as:
- RAPSN _ Rapsyn
- Catalog number:
- Y214275
- Product Quantity:
- 200ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- RAPSN _ Rapsyn
Related genes to: RAPSN _ Rapsyn
- Gene:
- RAPSN NIH gene
- Name:
- receptor associated protein of the synapse
- Previous symbol:
- -
- Synonyms:
- RNF205, CMS1D, CMS1E
- Chromosome:
- 11p11.2
- Locus Type:
- gene with protein product
- Date approved:
- 1996-03-12
- Date modifiied:
- 2015-11-23
Related products to: RAPSN _ Rapsyn
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- Agrin-mediated neuromuscular junction (NMJ) morphological alterations is one of the main pathogeneses of sarcopenia. The aim of this study was to observe the changes in serum agrin in patients with different degrees of sarcopenia and the alterations in Agrin receptors in human skeletal muscle with age. A total of 236 elderly subjects were enrolled and categorized into nonsarcopenia, possible sarcopenia, sarcopenia, and severe sarcopenia groups. Serum levels of the C-terminal Agrin fragment were quantified using an Enzyme-Linked Immunosorbent Assay (ELISA) kit. In addition, in a distinct and smaller exploratory subgroup ( = 12), quantitative real-time polymerase chain reaction and immunofluorescence staining were performed to investigate the expression of Agrin receptors, specifically low-density lipoprotein receptor-related protein 4 (Lrp4) and alpha-dystroglycan (α-DG), in human skeletal muscle samples. Compared with that in the nonsarcopenia group, the level of agrin in the other groups was significantly different. Partial correlation analysis and binary logistic regression analysis suggested that the level of Agrin was associated with handgrip strength. There was a significant increase in the serum level of agrin and a reduction in the mRNA expression of the agrin receptors , and , while immunofluorescence analysis confirmed the expression patterns of the Lrp4 and α-DG receptors. In the elderly population, the level of agrin decreased in patients with sarcopenia, while the expression of its receptors also decreased. These factors result in NMJ morphological alterations, weakened muscle contraction, and increased risk of sarcopenia. - Source: PubMed
Publication date: 2026/01/09
Chen JihaiCheng NuoLiu YeXu TongtongXi LingWang CongOuyang Xiaojun - Genome-wide studies of differential DNA methylation often focus on its role in turning transcription on or off. Here we report some atypical epigenetic/transcription relationships for 92 genes that are highly and preferentially expressed in primary human myoblasts relative to heterologous cell cultures. - Source: PubMed
Publication date: 2026/03/13
Ehrlich Kenneth CLacey MichellePradhan SriharsaEhrlich Melanie - Male infertility affects approximately one in seven couples worldwide. Prenatal cadmium (Cd) exposure has been shown to affect offspring phenotypes and increase susceptibility to diseases later in life. However, the effects of prenatal Cd exposure on multi-generational offspring fertility and the mechanisms remain unknown. A novel murine multi-generational (F1-F3 offspring) male subfertility model induced by prenatal Cd exposure was developed. The levels of testosterone and steroidogenic enzymes were also lower in these offspring's testes. The ubiquitin-dependent degradation of NR4A1, the upstream transcription factor regulating steroidogenic enzymes, was enhanced across generations upon prenatal Cd exposure. After treatment with MG132, an inhibitor of the ubiquitin-proteasome system, the levels of NR4A1 and steroidogenic enzymes were higher in offspring testes with prenatal Cd exposure. Based on the analysis of the UbiBrowser database and testicular global transcriptome, RAPSN was identified as a novel ubiquitin E3 ligase containing the RING-H2_Rapsyn domain that mediates multi-generational testicular NR4A1 ubiquitination. mA epitranscriptome analysis revealed that prenatal Cd exposure upregulated RAPSN expression in multi-generational offspring testes, and was attributed to a higher level of mA modification of mRNA. Furthermore, there was a lower level of YTHDC2, a mA reader, in the multi-generational offspring testes with prenatal Cd exposure. Prenatal and postnatal testicular YTHDC2 overexpression reduced the stability of mA-methylated mRNA to downregulate RAPSN expression in F1-F3 testes. Overall, YTHDC2 reduction-mediated increment in mA-methylated mRNA contributed to prenatal Cd-enhanced multi-generational susceptibility to male subfertility. - Source: PubMed
Publication date: 2026/01/30
Zhu HualongXiong YongweiYuan ZhiLuo YexinOuyang KongwenWang TiantianWang HuaZhang YufengChang WeiZhang JinLi HaoGao LanXu DexiangWang Hua - Congenital myasthenic syndromes (CMS) are often underdiagnosed due to phenotypic overlap with other neuromuscular disorders. Limited epidemiological data and low awareness hinder early diagnosis, which is key for effective treatment. Early recognition of CMS is important as symptomatic treatments often specific for genetic subtypes exist and emerging therapies are in the pipeline. This study aims to estimate the prevalence of genetically confirmed CMS in the United Kingdom and explore geographical variations. - Source: PubMed
Publication date: 2025/11/18
Rossini ElenaHenehan LeighannDong Yin YaoBettolo Chiara MariniMunot PinkiJungbluth HeinzNorwood FionaHughes ImeldaBeeson DavidRamdas SitharaPalace Jacqueline - Biallelic pathogenic variants in cause a form of congenital myasthenic syndrome (CMS), which is typically characterized by fatiguable muscle weakness, hypotonia, and feeding difficulties that present in the neonatal period or early childhood. -associated CMS can be treated with acetylcholinesterase inhibitors. Here, we present a 4-year-old male with a history of neonatal respiratory distress, hypotonia, and muscle weakness exacerbated by illness who underwent trio genome sequencing and was found to have biallelic single nucleotide variants at the same position in , encoding NM_005055.5:c.264C > A p.(N88K) and NM_005055.5:c.264C > G p.(N88K). The paternally inherited c.264C > G variant has not been previously reported. Interestingly, only the maternally inherited c.264C > A variant was reported on the patient's prior clinical exome sequencing, which delayed diagnosis and initiation of treatment for this patient. This case highlights the complexity of identifying multiallelic variants during exome and genome sequencing analysis. Additionally, this case is the first report of facial malformations in a patient with -associated CMS due to variants outside of the promoter region. ClinicalTrials.gov identifier: NCT02450851. - Source: PubMed
Publication date: 2025/10/20
Keehan LauraCarter Jennefer NKravets ElijahWheeler Matthew TBernstein Jonathan AMaselli Ricardo ASampson Jacinda BBachir Suha