Evidence map›Paper›PMID 33273479›Full record

ArticleNature communications2020

Modelling genetic mosaicism of neurodevelopmental disorders in vivo by a Cre-amplifying fluorescent reporter.

Francesco Trovato, Riccardo Parra, Enrico Pracucci, Silvia Landi, Olga Cozzolino, Gabriele Nardi, Federica Cruciani, Vinoshene Pillai, Laura Mosti, Andrzej W Cwetsch and 7 more

Abstract read
In one paragraph

Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 citing papers in PubMed.

  1. Article
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  12. Neuroinflammation: A Signature or a Cause of Epilepsy?International journal of molecular sciences · 2021
    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

17 authors.

Francesco TrovatoNational Enterprise for Nanoscience and Nanotechnology (NEST), Istituto Nanoscienze Consiglio Nazionale delle Ricerche (CNR) and Scuola Normale Superiore Pisa, 56127, Pisa, Italy. francesco.trovato@sns.it.
Riccardo ParraNational Enterprise for Nanoscience and Nanotechnology (NEST), Istituto Nanoscienze Consiglio Nazionale delle Ricerche (CNR) and Scuola Normale Superiore Pisa, 56127, Pisa, Italy.ORCID 0000-0003-1421-2832
Enrico PracucciNational Enterprise for Nanoscience and Nanotechnology (NEST), Istituto Nanoscienze Consiglio Nazionale delle Ricerche (CNR) and Scuola Normale Superiore Pisa, 56127, Pisa, Italy.ORCID 0000-0002-2185-4510
Silvia LandiNational Enterprise for Nanoscience and Nanotechnology (NEST), Istituto Nanoscienze Consiglio Nazionale delle Ricerche (CNR) and Scuola Normale Superiore Pisa, 56127, Pisa, Italy.
Olga CozzolinoNational Enterprise for Nanoscience and Nanotechnology (NEST), Istituto Nanoscienze Consiglio Nazionale delle Ricerche (CNR) and Scuola Normale Superiore Pisa, 56127, Pisa, Italy.ORCID 0000-0002-8218-8961
Gabriele NardiNational Enterprise for Nanoscience and Nanotechnology (NEST), Istituto Nanoscienze Consiglio Nazionale delle Ricerche (CNR) and Scuola Normale Superiore Pisa, 56127, Pisa, Italy.
Federica CrucianiNational Enterprise for Nanoscience and Nanotechnology (NEST), Istituto Nanoscienze Consiglio Nazionale delle Ricerche (CNR) and Scuola Normale Superiore Pisa, 56127, Pisa, Italy.
Vinoshene PillaiNational Enterprise for Nanoscience and Nanotechnology (NEST), Istituto Nanoscienze Consiglio Nazionale delle Ricerche (CNR) and Scuola Normale Superiore Pisa, 56127, Pisa, Italy.
Laura MostiNational Enterprise for Nanoscience and Nanotechnology (NEST), Istituto Nanoscienze Consiglio Nazionale delle Ricerche (CNR) and Scuola Normale Superiore Pisa, 56127, Pisa, Italy.ORCID 0000-0001-8877-8359
Andrzej W CwetschIstituto Italiano di Tecnologia, Genoa, Italy.
Laura CanceddaIstituto Italiano di Tecnologia, Genoa, Italy.ORCID 0000-0003-0566-057X
Laura GrittiInstitute of Neuroscience CNR, Milan, Italy.
Carlo SalaInstitute of Neuroscience CNR, Milan, Italy.
Chiara VerpelliInstitute of Neuroscience CNR, Milan, Italy.
Andrea MasetVeneto Institute of Molecular Medicine, Padua, Italy.
Claudia LodovichiVeneto Institute of Molecular Medicine, Padua, Italy.
Gian Michele RattoNational Enterprise for Nanoscience and Nanotechnology (NEST), Istituto Nanoscienze Consiglio Nazionale delle Ricerche (CNR) and Scuola Normale Superiore Pisa, 56127, Pisa, Italy. gianmichele.ratto@sns.it.ORCID 0000-0001-9632-7769

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic mosaicism, a condition in which an organ includes cells with different genotypes, is frequently present in monogenic diseases of the central nervous system caused by the random inactivation of the X-chromosome, in the case of X-linked pathologies, or by somatic mutations affecting a subset of neurons. The comprehension of the mechanisms of these diseases and of the cell-autonomous effects of specific mutations requires the generation of sparse mosaic models, in which the genotype of each neuron is univocally identified by the expression of a fluorescent protein in vivo. Here, we show a dual-color reporter system that, when expressed in a floxed mouse line for a target gene, leads to the creation of mosaics with tunable degree. We demonstrate the generation of a knockout mosaic of the autism/epilepsy related gene PTEN in which the genotype of each neuron is reliably identified, and the neuronal phenotype is accurately characterized by two-photon microscopy.

Indexed as

Genes, ReporterMosaicismAction PotentialsAnimalsAnimals, NewbornDisease Models, AnimalElectroencephalographyFluorescent DyesGene ExpressionHEK293 CellsHumansIntegrasesMiceMice, Inbred C57BLNeurodevelopmental DisordersNIH 3T3 CellsCre recombinaseFluorescent DyesIntegrasesPTEN PhosphohydrolaseTamoxifen

Identifiers

PMID33273479
PMCPMC7713426

What OpenQuestion holds

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Registered trials

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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.