Evidence map›Paper›PMID 33147782›Full record

ArticleInternational journal of molecular sciences2020

Implications of Splicing Alterations in the Onset and Phenotypic Variability of a Family with Subclinical Manifestation of Peutz-Jeghers Syndrome: Bioinformatic and Molecular Evidence.

Andrea Cerasuolo, Francesca Cammarota, Francesca Duraturo, Annamaria Staiano, Massimo Martinelli, Erasmo Miele, Paola Izzo, Marina De Rosa

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2020. 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
0.6field-weighted citation impact, top 32% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. Biomarkers in Rare Diseases.International journal of molecular sciences · 2021
    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

8 authors at 3 institutions in 1 country.

Andrea CerasuoloMolecular Biology and Viral Oncology Unit, Istituto Nazionale Tumori IRCCS "Fondazione G. Pascale", 80131 Naples, Italy.
Francesca CammarotaDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.
Francesca DuraturoDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.
Annamaria StaianoDepartment of Translational Medical Sciences, Section of Pediatrics, University of Naples Federico II, 80131 Naples, Italy.
Massimo MartinelliDepartment of Translational Medical Sciences, Section of Pediatrics, University of Naples Federico II, 80131 Naples, Italy.ORCID 0000-0003-2152-747X
Erasmo MieleDepartment of Translational Medical Sciences, Section of Pediatrics, University of Naples Federico II, 80131 Naples, Italy.
Paola IzzoDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.
Marina De RosaDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.ORCID 0000-0002-4752-5678
Ceinge Biotecnologie Avanzate (Italy) · ITUniversity of Naples Federico II · ITIstituto Nazionale Tumori IRCCS "Fondazione G. Pascale" · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Peutz-Jeghers Syndrome (PJS) is an autosomal dominant pre-cancerous disorder caused in 80-90% of cases by germline mutations in the tumor suppressor gene

Indexed as

Alternative SplicingGerm-Line MutationPolymorphism, Single NucleotideAllelesAMP-Activated Protein Kinase KinasesCafe-au-Lait SpotsChildComputational BiologyEnhancer Elements, GeneticExonsFamily HealthFathersFemaleGene Expression RegulationGenetic TestingHumansAMP-Activated Protein Kinase KinasesProtein Serine-Threonine KinasesSTK11 protein, humancafé au lait spotscancer preventionEnhancer Splicing ElementPeutz–Jeghers Syndrome (PJS)presymptomatic diagnosisrisk managementsplicing variants

Identifiers

PMID33147782
PMCPMC7662643
OpenAlexW3096170072

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.