Evidence map›Paper›PMID 39202394›Full record

ArticleGenes2024

Association of Very Rare

Martina Ferrandino, Giovanna Cardiero, Fabiola Di Dato, Ylenia Cerrato, Luigi Vitagliano, Claudia Mandato, Filomena Morisco, Maria Immacolata Spagnuolo, Raffaele Iorio, Maria Donata Di Taranto and 1 more

Abstract read
In one paragraph

Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. Article
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

11 authors.

Martina FerrandinoDipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, CEINGE-Biotecnologie Avanzate Franco Salvatore, 80131 Naples, Italy.
Giovanna CardieroDipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, CEINGE-Biotecnologie Avanzate Franco Salvatore, 80131 Naples, Italy.ORCID 0009-0009-5615-298X
Fabiola Di DatoDipartimento di Scienze Mediche Traslazionali, Università degli Studi di Napoli Federico II, 80131 Naples, Italy.ORCID 0000-0001-9915-8972
Ylenia CerratoDipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, CEINGE-Biotecnologie Avanzate Franco Salvatore, 80131 Naples, Italy.
Luigi VitaglianoIstituto di Biostrutture e Bioimmagini, CNR, 80145 Naples, Italy.ORCID 0000-0002-3032-3375
Claudia MandatoDipartimento di Medicina, Chirurgia e Odontoiatria "Scuola Medica Salernitana", 84081 Baronissi, Italy.
Filomena MoriscoDipartimento di Medicina Clinica e Chirurgia, Università degli Studi di Napoli Federico II, 80131 Naples, Italy.
Maria Immacolata SpagnuoloDipartimento di Scienze Mediche Traslazionali, Università degli Studi di Napoli Federico II, 80131 Naples, Italy.ORCID 0000-0001-5396-4944
Raffaele IorioDipartimento di Scienze Mediche Traslazionali, Università degli Studi di Napoli Federico II, 80131 Naples, Italy.ORCID 0000-0002-7483-234X
Maria Donata Di TarantoDipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, CEINGE-Biotecnologie Avanzate Franco Salvatore, 80131 Naples, Italy.ORCID 0000-0002-0618-7940
Giuliana FortunatoDipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, CEINGE-Biotecnologie Avanzate Franco Salvatore, 80131 Naples, Italy.ORCID 0000-0002-2209-383X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAlagille syndrome (ALGS) is a rare autosomal dominant genetic disease caused by pathogenic variants in two genes: Jagged Canonical Notch Ligand 1 (

methodsUsing Next Generation Sequencing (NGS), we analyzed a panel of liver-disease-related genes in a population of 230 patients with cholestasis and hepatopathies. For the rare variants, bioinformatics predictions and pathogenicity classification were performed.

resultsWe identified eleven rare

conclusionsOur results increased the knowledge about

Indexed as

Alagille SyndromeReceptor, Notch2AdolescentChildChild, PreschoolFemaleHigh-Throughput Nucleotide SequencingHumansInfantJagged-1 ProteinMaleMutationMutation, MissensePhenotypeJAG1 protein, humanJagged-1 ProteinNOTCH2 protein, humanReceptor, Notch2Alagille syndromebioinformaticscholestasisgeneticsJAG1missense variantsNOTCH2pathogenicity evaluationphenotype variabilityuncertain significance variants

Identifiers

PMID39202394
PMCPMC11353882

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.