Ask about this productRelated genes to: CHRNE Blocking Peptide
- Gene:
- CHRNE NIH gene
- Name:
- cholinergic receptor nicotinic epsilon subunit
- Previous symbol:
- -
- Synonyms:
- ACHRE
- Chromosome:
- 17p13.2
- Locus Type:
- gene with protein product
- Date approved:
- 1992-04-23
- Date modifiied:
- 2019-04-23
Related products to: CHRNE Blocking Peptide
Related articles to: CHRNE Blocking Peptide
- - Source: PubMed
Publication date: 2026/04/20
León-Ruiz MoisésGhosh RitwikDubey SouvikCastañeda-Cabrero CarlosBenito-León Julián - - Source: PubMed
Publication date: 2026/03/30
León-Ruiz MoisésGhosh RitwikDubey SouvikCastañeda-Cabrero CarlosBenito-León Julián - Denervation triggers dramatic atrophy of skeletal muscle, accompanied by synaptic, contractile and metabolic changes. Several factors were shown to contribute to genetic reprogramming and proteostasis changes after denervation. However, the mechanisms underlying the coordinated regulation of denervation-induced muscle fiber remodeling remain misunderstood. - Source: PubMed
Publication date: 2026/03/23
Cattaneo OliviaLopez GaetanRajendran JayasimmanChabry FlorentLiaudet NicolasStartchik SergeiProla AlexandreCastets Perrine - Congenital myasthenic syndrome (CMS) refers to a rare heterogeneous group of hereditary disorders characterized by fatigue and muscle weakness due to impairment in neuromuscular transmission. A total of 40 genes have been identified in the pathogenesis of CMSs. The study assessed 22 patients (14 females and 8 males) with CMS of childhood onset with their phenotypes and genotypes. Genetic analysis revealed variations in the following eight genes: CHRNE, DOK7, GFPT1, COLQ, SLC25A1, CHAT, MUSK, and MYO9A. Eight novel variations were detected involving SLC25A1, MUSK, DOK7, GFPT1, and CHRNE. The median age was 14 years (range: 0.5-67 years). The median age of onset of symptoms was 8 months (range: 0-16 years). The longest time after the onset of symptoms was 62 years. The most common initial symptoms were weakness of extremities (n = 9) and ptosis (n = 8). Respiratory symptoms were present in 11 patients (50%), which showed progression, multiphasic disease course, and amelioration in 45.4%, 18.1%, and 36.3% of patients, respectively. Motor symptoms showed a progressive worsening in 68.1%, stationary course in 13.6%, multiphasic disease course in 13.6%, and amelioration in 4.5% of patients. Thanks to next-generation sequencing, diagnoses of CMS have been increasing over the recent years; so has the number of novel variants. - Source: PubMed
Publication date: 2025/12/26
Akçay Ayfer ArduçYunisova GulshanAvcı ŞahinAcarlı Ayşe Nur ÖzdağKayserili HülyaOflazer Piraye - Molecular quantitative trait locus (QTL) studies increasingly profile chromatin accessibility, histone modifications, DNA methylation, RNA modifications such as N6-methyladenosine (m6A), and transcription across multiple cell types using high-throughput sequencing, generating dense base-pair-resolved measurements. The conventional approach of testing each variant against each molecular feature independently suffers from severe multiple testing burden and ignores linkage disequilibrium and spatial correlation. Existing fine-mapping methods only partially address these challenges and are sub-optimal for analyzing such datasets: multivariate approaches such as jointly analyze multiple molecular contexts but are designed for a single trait value per context and cannot accommodate thousands of base-resolution measurements per context, while functional approaches such as model spatial structure across thousands of measurements but analyze each context separately. Here, we introduce , which integrates multivariate analysis with wavelet-based functional regression to jointly fine-map thousands of base-resolution traits across multiple cell types. In simulations, identified causal variants and affected molecular features more accurately than , while cannot be applied to this type of data. Applied to single-nucleus chromatin accessibility data from six brain cell types from postmortem aging human brains, substantially increased discovery and resolution, with substantial power gains for cell types with limited samples. Multi-cell-type analysis revealed extensive sharing of regulatory effects on chromatin accessibility (caQTL). Importantly, produces Bayesian inference compatible with the framework, enabling systematic multi-omic integration. Applied to Alzheimer's disease loci, we integrated caQTL with expression QTLs, epigenomic QTLs, and GWAS, observing regulatory patterns suggesting complex mechanisms at loci including , , , and . - Source: PubMed
Publication date: 2025/11/28
Liu AnjingDe Jager Philip LBennett David Wang GaoDenault William R P