Evidence map›Paper›PMID 29363855›Full record

ArticleAmerican journal of medical genetics. Part A2018

NRP1 haploinsufficiency predisposes to the development of Tetralogy of Fallot.

Ivan Duran, Jessica Tenney, Carmen M Warren, Anna Sarukhanov, Fabiana Csukasi, Mark Skalansky, Maria L Iruela-Arispe, Deborah Krakow

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

Article in American journal of medical genetics. Part A, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 44% 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

2 citing papers in PubMed, 7 citations in OpenAlex.

  1. Fetal Blood Flow and Genetic Mutations in Conotruncal Congenital Heart Disease.Journal of cardiovascular development and disease · 2021
    Review
  2. Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot.Genetics in medicine : official journal of the American College of Medical Genetics · 2019
    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

8 authors at 1 institution in 1 country.

Ivan DuranDepartment of Orthopedic Surgery, David Geffen School of Medicine at University of California at Los Angeles, Los Angeles, California.ORCID 0000-0001-6097-0402
Jessica TenneyDepartment of Pediatrics, David Geffen School of Medicine at University of California at Los Angeles, Los Angeles, California.
Carmen M WarrenDepartment of Molecular Cell and Developmental Biology, University of California at Los Angeles, Los Angeles, California.
Anna SarukhanovDepartment of Orthopedic Surgery, David Geffen School of Medicine at University of California at Los Angeles, Los Angeles, California.
Fabiana CsukasiDepartment of Orthopedic Surgery, David Geffen School of Medicine at University of California at Los Angeles, Los Angeles, California.
Mark SkalanskyDepartment of Pediatrics, David Geffen School of Medicine at University of California at Los Angeles, Los Angeles, California.
Maria L Iruela-ArispeDepartment of Molecular Cell and Developmental Biology, University of California at Los Angeles, Los Angeles, California.
Deborah KrakowDepartment of Orthopedic Surgery, David Geffen School of Medicine at University of California at Los Angeles, Los Angeles, California.ORCID 0000-0001-9906-4968
University of California, Los Angeles · US

Funding

Vascular Growth and RegenerationR35HL140014 · NHLBI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI IRUELA-ARISPE, M. LUISA · 2018 to 2024
$6.6M
Exome sequencing in the skeletal dysplasiasR01AR062651 · NIAMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI COHN, DANIEL H · 2013 to 2017
$1.7M
Unraveling the mechanisms of prenatal-onset disorders affecting the skeletonR01AR066124 · NIAMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI KRAKOW, DEBORAH · 2014 to 2018
$1.7M
NHLBI NIH HHS R35 HL140014NIAMS NIH HHS R01 AR062651NIAMS NIH HHS R01 AR066124
6 · The paper itself

Abstract

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart defect. It involves anatomical abnormalities that change the normal flow of blood through the heart resulting in low oxygenation. Although not all of the underlying causes of TOF are completely understood, the disease has been associated with varying genetic etiologies including chromosomal abnormalities and Mendelian disorders, but can also occur as an isolated defect. In this report, we describe a familial case of TOF associated with a 1.8 Mb deletion of chromosome 10p11. Among the three genes in the region one is Neuropilin1 (NRP1), a membrane co-receptor of VEGF that modulates vasculogenesis. Hemizygous levels of NRP1 resulted in a reduced expression at the transcriptional and protein levels in patient-derived cells. Reduction of NRP1 also lead to decreased function of its activity as a co-receptor in intermolecular VEGF signaling. These findings support that diminished levels of NRP1 contribute to the development of TOF, likely through its function in mediating VEGF signal and vasculogenesis.

Indexed as

Genetic Predisposition to DiseaseHaploinsufficiencyBiomarkersComparative Genomic HybridizationDNA Mutational AnalysisEndothelial CellsGene ExpressionGenetic Association StudiesGenotypeHumansNeuropilin-1PedigreePhenotypePolymorphism, Single NucleotideSequence Analysis, DNATetralogy of FallotBiomarkersNeuropilin-1NRP1 protein, humanchromosomal deletioncongenital heart diseaseneuropilin 1 (NRP1)prenatal ultrasoundtetralogy of fallot (TOF)

Identifiers

PMID29363855
PMCPMC7836020
OpenAlexW2791722932

What OpenQuestion holds

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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.