ArticleScientific reports2016
Gene expression of muscular and neuronal pathways is cooperatively dysregulated in patients with idiopathic achalasia.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 33 citations in OpenAlex.
- Tandem mass tag-based serum proteomic profiling revealed diabetic foot ulcer pathogenesis and potential therapeutic targets.Bioengineered · 2022Trial
- Idiopathic achalasia: unraveling the etiology and pathogenesis of an inflammatory disease.Gastroenterology report · 2026Review
- Identification of potential drug targets for achalasia from genetic insights: a Mendelian randomization study.Journal of cardiothoracic surgery · 2025Article
- Small RNAs and tooth development: The role of microRNAs in tooth agenesis and impaction.Journal of dental sciences · 2024Article
- Focus on Achalasia in the Omics Era.International journal of molecular sciences · 2024Review
- Altered Esophageal Smooth Muscle Phenotype in Achalasia.Journal of neurogastroenterology and motility · 2024Article
- Achalasia: The Current Clinical Dilemma and Possible Pathogenesis.Journal of neurogastroenterology and motility · 2023Review
- The molecular pathogenesis of achalasia: a paired lower esophageal sphincter muscle and serum 4D label-free proteomic study.Gastroenterology report · 2023Article
- LncRNA expression in idiopathic achalasia: New insight and preliminary exploration into pathogenesis.Open medicine (Warsaw, Poland) · 2022Article
- Circulating levels of cytokines, chemokines and growth factors in patients with achalasia.Biomedical reports · 2021Article
- Identification of differentially expressed microRNAs in primary esophageal achalasia by next-generation sequencing.Turkish journal of biology = Turk biyoloji dergisi · 2021Article
- Plasma levels of TNF-α, IL-6, IFN-γ, IL-12, IL-17, IL-22, and IL-23 in achalasia, eosinophilic esophagitis (EoE), and gastroesophageal reflux disease (GERD).BMC gastroenterology · 2019Article
- Esophageal motility disorders: new perspectives from high-resolution manometry and histopathology.Journal of gastroenterology · 2018Review
Corrections and comments
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Authors and funding
15 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Idiopathic achalasia is characterized by the absence of peristalsis secondary to loss of neurons in the myenteric plexus that hampers proper relaxation of the lower esophageal sphincter. Achalasia can be considered a multifactorial disorder as it occurs in related individuals and is associated with HLA class II genes, thereby suggesting genetic influence. We used microarray technology and advanced in-silico functional analyses to perform the first genome-wide expression profiling of mRNA in tissue samples from 12 achalasia and 5 control patients. It revealed 1,728 differentially expressed genes, of these, 837 (48.4%) were up-regulated in cases. In particular, genes participating to the smooth muscle contraction biological function were mostly up-regulated. Functional analysis revealed a significant enrichment of neuronal/muscular and neuronal/immunity processes. Upstream regulatory analysis of 180 genes involved in these processes suggested TLR4 and IL18 as critical key-players. Two functional gene networks were significantly over-represented: one involved in organ morphology, skeletal muscle system development and function, and neurological diseases, and the other participating in cell morphology, humoral immune response and cellular movement. These results highlight on pivotal genes that may play critical roles in neuronal/muscular and neuronal/immunity processes, and that may contribute to the onset and development of achalasia.
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