Evidence map›Paper›PMID 31118417›Full record

ArticleNature communications2019

The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy.

Nicolò Salvarani, Silvia Crasto, Michele Miragoli, Alessandro Bertero, Marianna Paulis, Paolo Kunderfranco, Simone Serio, Alberto Forni, Carla Lucarelli, Matteo Dal Ferro and 7 more

Open access · goldAbstract readVideo-Audio Media
In one paragraph

Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers.

0numbers the graph read from it
0cells of the map it votes in
75citing papers in PubMed
5.4field-weighted citation impact, top 3% 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

75 citing papers in PubMed, 111 citations in OpenAlex.

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  11. The molecular basis of lamin-specific chromatin interactions.Nature structural & molecular biology · 2025
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  20. Functional Characterisation of the RareInternational journal of molecular sciences · 2023
    Article

15 more citing papers are in PubMed but not listed here.

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 at 5 institutions in 2 countries.

Nicolò SalvaraniInstitute of Genetic and Biomedical Research (IRGB), UOS of Milan, National Research Council of Italy, Milan, 20138, Italy.ORCID http://orcid.org/0000-0002-3443-3221
Silvia CrastoInstitute of Genetic and Biomedical Research (IRGB), UOS of Milan, National Research Council of Italy, Milan, 20138, Italy.
Michele MiragoliInstitute of Genetic and Biomedical Research (IRGB), UOS of Milan, National Research Council of Italy, Milan, 20138, Italy.ORCID http://orcid.org/0000-0002-4058-4368
Alessandro BerteroInstitute for Stem Cell and Regenerative Medicine, University of Washington, Seattle, 98109, WA, USA.ORCID http://orcid.org/0000-0002-4919-9087
Marianna PaulisInstitute of Genetic and Biomedical Research (IRGB), UOS of Milan, National Research Council of Italy, Milan, 20138, Italy.
Paolo KunderfrancoDepartment of Cardiovascular Medicine and Laboratory of Medical Biotechnology, Humanitas Clinical and Research Center - IRCCS, Rozzano (MI), 20089, Italy.ORCID http://orcid.org/0000-0003-3636-3391
Simone SerioDepartment of Cardiovascular Medicine and Laboratory of Medical Biotechnology, Humanitas Clinical and Research Center - IRCCS, Rozzano (MI), 20089, Italy.
Alberto ForniDivision of Cardiac Surgery, University of Verona, Verona, 37129, Italy.
Carla LucarelliDivision of Cardiac Surgery, University of Verona, Verona, 37129, Italy.
Matteo Dal FerroCardiovascular Department, "Ospedali Riuniti" and University of Trieste, Trieste, 34129, Italy.
Veronica LarcherDepartment of Cardiovascular Medicine and Laboratory of Medical Biotechnology, Humanitas Clinical and Research Center - IRCCS, Rozzano (MI), 20089, Italy.
Gianfranco SinagraCardiovascular Department, "Ospedali Riuniti" and University of Trieste, Trieste, 34129, Italy.ORCID http://orcid.org/0000-0003-2700-8478
Paolo VezzoniInstitute of Genetic and Biomedical Research (IRGB), UOS of Milan, National Research Council of Italy, Milan, 20138, Italy.
Charles E MurryInstitute for Stem Cell and Regenerative Medicine, University of Washington, Seattle, 98109, WA, USA.ORCID http://orcid.org/0000-0003-3862-6773
Giuseppe FaggianDivision of Cardiac Surgery, University of Verona, Verona, 37129, Italy.
Gianluigi CondorelliInstitute of Genetic and Biomedical Research (IRGB), UOS of Milan, National Research Council of Italy, Milan, 20138, Italy. gianluigi.condorelli@hunimed.eu.ORCID http://orcid.org/0000-0003-0481-6843
Elisa Di PasqualeInstitute of Genetic and Biomedical Research (IRGB), UOS of Milan, National Research Council of Italy, Milan, 20138, Italy. elisa.dipasquale@irgb.cnr.it.
Humanitas University · ITUniversity of Verona · ITUniversity of Trieste · ITUniversity of Washington · USUniversity of Parma · IT

Funding

University of Washington Center for Nuclear Organization and FunctionU54DK107979 · NIDDK · UNIVERSITY OF WASHINGTON · PI NOBLE, WILLIAM STAFFORD, SHENDURE, JAY ASHOK · 2015 to 2019
$11.8M
NIDDK NIH HHS U54 DK107979
6 · The paper itself

Abstract

Mutations in LMNA, which encodes the nuclear proteins Lamin A/C, can cause cardiomyopathy and conduction disorders. Here, we employ induced pluripotent stem cells (iPSCs) generated from human cells carrying heterozygous K219T mutation on LMNA to develop a disease model. Cardiomyocytes differentiated from these iPSCs, and which thus carry K219T-LMNA, have altered action potential, reduced peak sodium current and diminished conduction velocity. Moreover, they have significantly downregulated Na

Indexed as

AdolescentAdultCardiomyopathy, DilatedCell LineDown-RegulationEpigenesis, GeneticFemaleHeart Conduction SystemHeart TransplantationHumansInduced Pluripotent Stem CellsLamin Type AMaleMiddle AgedMutationMyocardiumLamin Type ALMNA protein, humanNAV1.5 Voltage-Gated Sodium ChannelNeoplasm ProteinsPolycomb Repressive Complex 2SCN5A protein, humanSUZ12 protein, humanTranscription Factors

Identifiers

PMID31118417
PMCPMC6531493
OpenAlexW2945760907

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.