Evidence map›Paper›PMID 27511445›Full record

ArticleScientific reports2016

Gene expression of muscular and neuronal pathways is cooperatively dysregulated in patients with idiopathic achalasia.

Orazio Palmieri, Tommaso Mazza, Antonio Merla, Caterina Fusilli, Antonello Cuttitta, Giuseppina Martino, Tiziana Latiano, Giuseppe Corritore, Fabrizio Bossa, Orazio Palumbo and 5 more

Open access · goldAbstract read
In one paragraph

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.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
2.8field-weighted citation impact, top 10% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

13 citing papers in PubMed, 33 citations in OpenAlex.

  1. Trial
  2. Review
  3. Article
  4. Article
  5. Focus on Achalasia in the Omics Era.International journal of molecular sciences · 2024
    Review
  6. Altered Esophageal Smooth Muscle Phenotype in Achalasia.Journal of neurogastroenterology and motility · 2024
    Article
  7. Achalasia: The Current Clinical Dilemma and Possible Pathogenesis.Journal of neurogastroenterology and motility · 2023
    Review
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors at 2 institutions in 1 country.

Orazio PalmieriDivision of Gastroenterology, IRCCS 'Casa Sollievo della Sofferenza', San Giovanni Rotondo, Foggia, Italy.
Tommaso MazzaBioinformatics Unit, IRCCS 'Casa Sollievo della Sofferenza', San Giovanni Rotondo, Foggia, Italy.
Antonio MerlaDivision of Gastroenterology, IRCCS 'Casa Sollievo della Sofferenza', San Giovanni Rotondo, Foggia, Italy.
Caterina FusilliBioinformatics Unit, IRCCS 'Casa Sollievo della Sofferenza', San Giovanni Rotondo, Foggia, Italy.
Antonello CuttittaUnit of General Surgery 2nd and Thoracic Surgery, IRCCS 'Casa Sollievo della Sofferenza', San Giovanni Rotondo, Foggia, Italy.
Giuseppina MartinoDivision of Gastroenterology, IRCCS 'Casa Sollievo della Sofferenza', San Giovanni Rotondo, Foggia, Italy.
Tiziana LatianoDivision of Gastroenterology, IRCCS 'Casa Sollievo della Sofferenza', San Giovanni Rotondo, Foggia, Italy.
Giuseppe CorritoreDivision of Gastroenterology, IRCCS 'Casa Sollievo della Sofferenza', San Giovanni Rotondo, Foggia, Italy.
Fabrizio BossaDivision of Gastroenterology, IRCCS 'Casa Sollievo della Sofferenza', San Giovanni Rotondo, Foggia, Italy.
Orazio PalumboMedical Genetics Service, IRCCS 'Casa Sollievo della Sofferenza', San Giovanni Rotondo, Foggia, Italy.
Lucia Anna MuscarellaLaboratory of Oncology, IRCCS 'Casa Sollievo della Sofferenza', San Giovanni Rotondo, Foggia, Italy.
Massimo CarellaMedical Genetics Service, IRCCS 'Casa Sollievo della Sofferenza', San Giovanni Rotondo, Foggia, Italy.
Paolo GrazianoPathology Unit, IRCCS 'Casa Sollievo della Sofferenza', San Giovanni Rotondo, Foggia, Italy.
Angelo AndriulliDivision of Gastroenterology, IRCCS 'Casa Sollievo della Sofferenza', San Giovanni Rotondo, Foggia, Italy.
Anna LatianoDivision of Gastroenterology, IRCCS 'Casa Sollievo della Sofferenza', San Giovanni Rotondo, Foggia, Italy.
Casa Sollievo della Sofferenza · ITIstituti di Ricovero e Cura a Carattere Scientifico · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Gene Expression ProfilingGene Expression RegulationMuscle ContractionAdultAgedEsophageal AchalasiaFemaleGenome-Wide Association StudyHLA AntigensHumansMaleMiddle AgedMuscle, SmoothMyenteric PlexusHLA Antigens

Identifiers

PMID27511445
PMCPMC4980661
OpenAlexW2509046581

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.