In one paragraphArticle in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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 registryThe 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 literatureWho cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what moneyAuthors and funding
16 authors.
Anna LatianoGastrointestinal Disorders Research Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Francesca TavanoGastrointestinal Disorders Research Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.ORCID 0000-0002-8831-7349 Lucia MicaleInborn Errors of Morphogenesis Research Unit, Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.ORCID 0000-0003-3604-194X Luigi BiscegliaInborn Errors of Morphogenesis Research Unit, Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Tommaso BiaginiComputational Biology and Bioinformatics Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.ORCID 0000-0002-4539-028X Giulia MantiniComputational Biology and Bioinformatics Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
Marco GentileDivision of Gastroenterology and Endoscopy, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Antonio MerlaDivision of Gastroenterology and Endoscopy, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Fabrizio BossaDivision of Gastroenterology and Endoscopy, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.ORCID 0000-0002-4518-9949 Giuseppe BiscagliaDivision of Gastroenterology and Endoscopy, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.ORCID 0000-0002-3799-2547 Tiziana LatianoGastrointestinal Disorders Research Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Alessandra Pia BiscegliaGastrointestinal Disorders Research Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.ORCID 0009-0002-2575-6499 Vito AnneseGastroenterology and Gastrointestinal Endoscopy Unit, IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy.ORCID 0000-0002-0082-892X Marco CastoriInborn Errors of Morphogenesis Research Unit, Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Tommaso MazzaComputational Biology and Bioinformatics Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.ORCID 0000-0003-0434-8533 Orazio PalmieriGastrointestinal Disorders Research Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.ORCID 0000-0002-0019-7929 Funding
Ministry of Health Ricerca Corrente Program 2022-2024/2025-2027
6 · The paper itselfAbstract
Idiopathic achalasia is a rare esophageal motility disorder characterized by the selective degeneration of inhibitory myenteric neurons. Its genetic basis remains poorly defined. We investigated whether rare coding variants may contribute to disease susceptibility. Exome sequencing was performed in 31 individuals with idiopathic achalasia and seven unaffected relatives. Candidate variants were prioritized using phenotype-driven filtering and assessed through in silico and structural analysis of publicly available gene expression and single-cell transcriptomic datasets. No pathogenic or likely pathogenic variants were identified in achalasia-associated genes. A gene-agnostic analysis identified two rare heterozygous missense variants in unrelated patients:
Indexed as
Esophageal AchalasiaMitochondriaNeuronsAdultATPases Associated with Diverse Cellular ActivitiesATP-Dependent ProteasesExome SequencingFemaleGenetic Predisposition to DiseaseHumansMaleMiddle AgedMutation, MissenseAFG3L2 protein, humanATPases Associated with Diverse Cellular ActivitiesATP-Dependent Proteasesachalasiaexome sequencinginhibitory neuronsin silico analysismitochondrial dysfunctionrare variants
Identifiers
PMID42589413
PMCPMC13466295
What Socratic holds
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