Evidence map›Paper›PMID 33006316›Full record

ArticleeLife2020

Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome.

Jeanne L Theis, Georg Vogler, Maria A Missinato, Xing Li, Tanja Nielsen, Xin-Xin I Zeng, Almudena Martinez-Fernandez, Stanley M Walls, Anaïs Kervadec, James N Kezos and 11 more

Open access · goldAbstract read
In one paragraph

Article in eLife, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed, 1 pooled it
3.0field-weighted citation impact, top 8% 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

27 citing papers in PubMed, 1 synthesis or guideline pooled it, 50 citations in OpenAlex.

  1. Pooled it
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  6. Cells · 2024
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  19. Whole Genome Sequencing in Hypoplastic Left Heart Syndrome.Journal of cardiovascular development and disease · 2022
    Article
  20. Article
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

21 authors at 3 institutions in 2 countries.

Jeanne L Theis *Cardiovascular Genetics Research Laboratory, Rochester, United States.
Georg Vogler *Development, Aging and Regeneration, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, United States.ORCID https://orcid.org/0000-0002-8303-3531
Maria A Missinato *Development, Aging and Regeneration, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, United States.ORCID http://orcid.org/0000-0001-9055-758X
Xing LiDivision of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, United States.
Tanja NielsenDevelopment, Aging and Regeneration, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, United States.
Xin-Xin I ZengDevelopment, Aging and Regeneration, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, United States.ORCID http://orcid.org/0000-0002-2707-7759
Almudena Martinez-FernandezDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, United States.
Stanley M WallsDevelopment, Aging and Regeneration, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, United States.
Anaïs KervadecDevelopment, Aging and Regeneration, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, United States.
James N KezosDevelopment, Aging and Regeneration, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, United States.
Katja BirkerDevelopment, Aging and Regeneration, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, United States.
Jared M EvansDivision of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, United States.
Megan M O'ByrneDivision of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, United States.
Zachary C FogartyDivision of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, United States.ORCID http://orcid.org/0000-0001-5588-3216
André TerzicDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, United States.
Paul GrossfeldUniversity of California San Diego, Rady's Hospital, San Diego, United States.
Karen OcorrDevelopment, Aging and Regeneration, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, United States.
Timothy J Nelson *Department of Molecular and Pharmacology and Experimental Therapeutics, Mayo Clinic, La Jolla, United States.
Timothy M Olson *Department of Cardiovascular Medicine, Mayo Clinic, Rochester, United States.
Alexandre R Colas *Development, Aging and Regeneration, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, United States.
Rolf Bodmer *Development, Aging and Regeneration, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, United States.ORCID https://orcid.org/0000-0001-9087-1210
Sanford Burnham Prebys Medical Discovery Institute · USMayo Clinic · USUniversity of California San Diego · US

Funding

HEART DEVELOPMENT IN DROSOPHILAR01HL054732 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BODMER, ROLF · 1995 to 2024
$11.3M
Discovery of Small Molecule Promoters of Cardiomyocyte Proliferation to Restore Cardiac Performance in DiseaseR01HL148827 · NHLBI · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · PI COLAS, ALEXANDRE ROMAIN · 2019 to 2022
$2.0M
Cellular/molecular substrates linking channel dysfunction and pathological cardiac remodelingR01HL132241 · NHLBI · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · PI OCORR, KAREN · 2017 to 2020
$1.9M
Discovery of small molecule regulators of atrial cardiomyocyte action potential duration to restore normal cardiac rhythm in atrial fibrillationR01HL153645 · NHLBI · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · PI COLAS, ALEXANDRE ROMAIN · 2021 to 2024
$1.9M
Cellular Mediators of Cardiac Aging and Arrhythmia in DrosophilaR21AG061598 · NIA · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · PI OCORR, KAREN · 2019 to 2020
$536k
NHLBI NIH HHS R01 HL054732NHLBI NIH HHS R01 HL132241NHLBI NIH HHS R01 HL148827NHLBI NIH HHS R01 HL153645NIA NIH HHS R21 AG061598NIH HHS HL054732
6 · The paper itself

Abstract

Congenital heart diseases (CHDs), including hypoplastic left heart syndrome (HLHS), are genetically complex and poorly understood. Here, a multidisciplinary platform was established to functionally evaluate novel CHD gene candidates, based on whole-genome and iPSC RNA sequencing of a HLHS family-trio. Filtering for rare variants and altered expression in proband iPSCs prioritized 10 candidates. siRNA/RNAi-mediated knockdown in healthy human iPSC-derived cardiomyocytes (hiPSC-CM) and in developing

Indexed as

AnimalsDrosophila melanogasterFemaleHeartHumansHypoplastic Left Heart SyndromeLow Density Lipoprotein Receptor-Related Protein-2MaleZebrafishLow Density Lipoprotein Receptor-Related Protein-2LRP2 protein, humancardiogenesiscongenital heart diseaseD. melanogastergeneticsgenomicshumanhypoplastic left heart syndromeiPSClipoproteinsmedicinezebrafish

Identifiers

PMID33006316
PMCPMC7581429
OpenAlexW3090607968

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.