Evidence map›Paper›PMID 37296576›Full record

ArticleCells2023

Whole-Exome Sequencing Identifies Homozygote Nonsense Variants in

Reiri Sono, Tania M Larrinaga, Alden Huang, Frank Makhlouf, Xuedong Kang, Jonathan Su, Ryan Lau, Valerie A Arboleda, Reshma Biniwale, Gregory A Fishbein and 9 more

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

Article in Cells, 2023. 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
2.0field-weighted citation impact, top 12% 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

12 citing papers in PubMed, 9 citations in OpenAlex.

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  6. Discovery ofDiagnostics (Basel, Switzerland) · 2025
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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

19 authors at 3 institutions in 1 country.

Reiri SonoDepartment of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Tania M LarrinagaDepartment of Cellular and Molecular Medicine and Sarver Molecular Cardiovascular Research Program, The University of Arizona, Tucson, AZ 85721, USA.
Alden HuangDepartment of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Frank MakhloufNeonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Xuedong KangNeonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Jonathan SuDepartment of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Ryan LauDepartment of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Valerie A ArboledaDepartment of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Reshma BiniwaleDepartment of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Gregory A FishbeinDepartment of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.ORCID 0000-0002-3632-5654
Negar KhanlouDepartment of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Ming-Sing SiDepartment of Surgery, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.ORCID 0000-0002-1927-420X
Gary M SatouDepartment of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Nancy HalnonDepartment of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Ucla Congenital Heart Defects-BioCore FacultyNeonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Glen S Van ArsdellDepartment of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Carol C GregorioDepartment of Cellular and Molecular Medicine and Sarver Molecular Cardiovascular Research Program, The University of Arizona, Tucson, AZ 85721, USA.
Stanly NelsonDepartment of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Marlin ToumaNeonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.ORCID 0000-0002-2827-4068
University of California, Los Angeles · USUniversity of Arizona · USChildren’s Institute · US

Funding

Deciphering the role of Lmod2 in thin filament length regulation and dilated cardiomyopathyR01HL123078 · NHLBI · UNIVERSITY OF ARIZONA · PI Carol C Gregorio, Shashank Shekhar · 2015 to 2026
$5.6M
Novel Gene-Environment Regulatory Circuit in Chamber-Specific Growth of Perinatal HeartR01HL153853 · NHLBI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI TOUMA, MARLIN · 2020 to 2023
$1.6M
NHLBI NIH HHS R01 HL123078NHLBI NIH HHS R01 HL153853NIH HHS 1R01 HL153853-01
6 · The paper itself

Abstract

As an essential component of the sarcomere, actin thin filament stems from the Z-disk extend toward the middle of the sarcomere and overlaps with myosin thick filaments. Elongation of the cardiac thin filament is essential for normal sarcomere maturation and heart function. This process is regulated by the actin-binding proteins Leiomodins (LMODs), among which

Indexed as

CardiomyopathiesCardiomyopathy, DilatedExome SequencingHeartHomozygoteHumansInfantInfant, NewbornMaleDCMheart maturationleiomodinsLMOD2neonatal cardiomyopathysarcomerethin filamentwhole-exome sequencingwhole-genome sequencing

Identifiers

PMID37296576
PMCPMC10252268
OpenAlexW4378083795

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.