Evidence map›Paper›PMID 34665352›Full record

ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2022

Duplication of exons 15 and 16 in Matrin-3: a phenotype bridging amyotrophic lateral sclerosis and immune-mediated disorders.

Maria Caputo, Elisabetta Zucchi, Ilaria Martinelli, Giulia Gianferrari, Cecilia Simonini, Amedeo Amedei, Elena Niccolai, Cinzia Gellera, Viviana Pensato, Jessica Mandrioli

Open access · greenAbstract readCase Reports
PubMed Publisher
In one paragraph

Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.1field-weighted citation impact, top 50% 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

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Article
  3. 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

10 authors at 4 institutions in 1 country.

Maria CaputoDepartment of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy.
Elisabetta ZucchiDepartment of Neurosciences, Azienda Ospedaliero-Universitaria Di Modena, Modena, Italy. elibettizucchi@gmail.com.ORCID http://orcid.org/0000-0001-5604-4529
Ilaria MartinelliDepartment of Neurosciences, Azienda Ospedaliero-Universitaria Di Modena, Modena, Italy.
Giulia GianferrariDepartment of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy.
Cecilia SimoniniDepartment of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy.
Amedeo AmedeiDepartment of Experimental and Clinical Medicine, University of Florence, 50134, Florence, Italy.
Elena NiccolaiDepartment of Experimental and Clinical Medicine, University of Florence, 50134, Florence, Italy.
Cinzia GelleraUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Via Celoria 11, 20133, Milan, Italy.
Viviana PensatoUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Via Celoria 11, 20133, Milan, Italy.
Jessica MandrioliDepartment of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy.
University of Modena and Reggio Emilia · ITFondazione IRCCS Istituto Neurologico Carlo Besta · ITUniversity of Florence · ITAzienda Ospedaliero-Universitaria di Modena · IT

Funding

fondazione per la ricerca biomedica Grant FRRB 2015-0023
6 · The paper itself

Abstract

Mutations in Matrin-3 (MATR3) gene have been described in ALS, suggesting a role for this gene in the disease pathogenesis. While most of MATR3 mutations are point mutations, here we report the first case of ALS associated with duplication in exons 15 and 16. The patient presented with limb-onset ALS and a complex past medical history because of Sjögren syndrome, antiphospholipid antibodies positivity, polyallergies, endometriosis, aldosterone-secreting adrenal cortical adenoma, congenital vesicoureteral reflux, and right breast hypoplasia. We discuss MATR3 effect in ALS and the role of this previously undescribed mutation in this peculiar ALS phenotype associated with systemic autoimmunity involvement.

Indexed as

Amyotrophic Lateral SclerosisExonsFemaleHumansMutationNuclear Matrix-Associated ProteinsPhenotypeRNA-Binding ProteinsMATR3 protein, humanNuclear Matrix-Associated ProteinsRNA-Binding ProteinsALSCongenital malformationImmune checkpointImmune responseMatrin-3Next-generation sequencing

Identifiers

PMID34665352
OpenAlexW3205050433

What OpenQuestion holds

Textmetadata
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.