Evidence map›Paper›PMID 32908855›Full record

ArticleInternational journal of genomics2020

Mutations in the

Maurizio Ricci, Rita Compagna, Bruno Amato, Sercan Kenanoglu, Dominika Veselenyiova, Danjela Kurti, Mirko Baglivo, Syed Hussain Basha, Roberta Serrani, Giacinto Abele Donato Miggiano and 8 more

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

Article in International journal of genomics, 2020. 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
0.1field-weighted citation impact, top 59% 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

0 citing papers in PubMed, 1 citations in OpenAlex.

No citing paper in PubMed yet.

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

18 authors at 7 institutions in 3 countries.

Maurizio RicciDivision of Rehabilitation Medicine, Azienda Ospedaliero-Universitaria, Ospedali Riuniti di Ancona, Italy.ORCID https://orcid.org/0000-0003-1514-8799
Rita CompagnaDepartment of Public Health, University of Naples Federico II, Naples, Italy.
Bruno AmatoDepartment of General and Geriatric Surgery, University of Naples "Federico II", Naples, Italy.
Sercan KenanogluDepartment of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.ORCID https://orcid.org/0000-0003-2239-0209
Dominika VeselenyiovaMAGI Euregio, Bolzano, Italy.ORCID https://orcid.org/0000-0002-1965-160X
Danjela KurtiMAGI Euregio, Bolzano, Italy.
Mirko BaglivoMAGI Euregio, Bolzano, Italy.ORCID https://orcid.org/0000-0002-3924-3195
Syed Hussain BashaInnovative Informatica Technologies, Hyderabad, India.
Roberta SerraniDivision of Rehabilitation Medicine, Azienda Ospedaliero-Universitaria, Ospedali Riuniti di Ancona, Italy.
Giacinto Abele Donato MiggianoUOC Nutrizione Clinica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Barbara AquilantiUOC Nutrizione Clinica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Giuseppina MateraUOC Nutrizione Clinica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Giuseppe MarcedduMAGI Euregio, Bolzano, Italy.
Valeria VellutiUOC Nutrizione Clinica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Lucilla GagliardiUOC Nutrizione Clinica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Munis DundarDepartment of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.ORCID https://orcid.org/0000-0003-0969-4611
Juraj KrajcovicDepartment of Biology, Faculty of Natural Sciences, University of Ss. Cyril and Methodius in Trnava, Trnava, Slovakia.
Matteo BertelliMAGI Euregio, Bolzano, Italy.ORCID https://orcid.org/0000-0002-7646-2872
Agostino Gemelli University Polyclinic · ITErciyes University · TROspedali Riuniti di Ancona · ITUniversity of Naples Federico II · ITUniversity of Ss. Cyril and Methodius in Trnava · SKCenter for Neuroscience and Cognitive Systems · ITUniversità Cattolica del Sacro Cuore · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundARAP3 is a small GTPase-activating protein regulator, which has important functions in lymphatic vessel organogenesis and modulation of cell adhesion and migration. Mutations in the

objectiveThe aim of our study was to determine the genotypes of lymphedema patients in relation to variants in the METHODS AND

resultsWe applied next-generation sequencing to DNA samples of a cohort of 246 Italian patients with lymphatic malformations. When we tested probands for known lymphedema genes, 235 out of 246 were negative. Retrospectively, we tested the DNA of these 235 patients for new candidate lymphedema-associated genes, including

conclusionsBased on our results, we propose that variants in

Identifiers

PMID32908855
PMCPMC7468673
OpenAlexW3081158332

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.