Evidence map›Paper›PMID 33531674›Full record

ArticlePediatric research2021

Pulmonary arteries of Williams syndrome patients exhibit altered serotonin metabolism genes and degenerated medial layer architecture.

Xiaoyuan Ma, R Thomas Collins, Ariana Goodman, Frank L Hanley, Robert Kirk Riemer

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Article in Pediatric research, 2021. 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
0.2field-weighted citation impact, top 49% 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

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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, 3 citations in OpenAlex.

  1. Article
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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

5 authors at 1 institution in 1 country.

Xiaoyuan MaCongenital Cardiac Division, Department of Cardiothoracic Surgery, Stanford University, CA, Stanford, USA.
R Thomas CollinsDepartment of Pediatrics - Cardiology, Stanford University, CA, Stanford, USA.
Ariana GoodmanCongenital Cardiac Division, Department of Cardiothoracic Surgery, Stanford University, CA, Stanford, USA.
Frank L HanleyCongenital Cardiac Division, Department of Cardiothoracic Surgery, Stanford University, CA, Stanford, USA.
Robert Kirk RiemerCongenital Cardiac Division, Department of Cardiothoracic Surgery, Stanford University, CA, Stanford, USA. riemerk@stanford.edu.
Stanford University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundWilliams-Beuren syndrome (WS) is characterized by cardiovascular abnormalities associated with a multigene deletion on 7q11.23, in particular elastin (ELN). Peripheral pulmonary artery stenosis (PPAS) frequently affects pediatric patients with WS. Molecular investigation of WS pulmonary arterial (PA) tissue is limited by tissue scarcity.

methodsWe compared transcriptomes, tissue architecture, and localized changes in protein expression in PA tissue from patients with WS (n = 8) and donors (n = 5).

resultsOver 100 genes were differentially expressed at the ≥4-fold level, including genes related to the serotonin signaling pathway: >60-fold downregulation of serotonin transporter SLC6A4 and >3-fold upregulation of serotonin receptor HTR2A. Histologic examination revealed abnormal elastin distribution and smooth muscle cell morphology in WS PA, with markedly shorter, disorganized elastin fibers, and expanded proteoglycan-rich extracellular matrix between muscle layers.

conclusionsThere were significant abnormalities in the PA expression of genes regulating serotonin signaling, metabolism, and receptors in WS. Those changes were associated with distinct changes in the arterial structure and may play a role in the stenosis-promoting effects of elevated shear stress at PA bifurcations in WS. IMPACT: Serotonin pathway signaling is significantly altered in the pulmonary arteries of patients with Williams syndrome and severe peripheral arterial stenosis. The present study compares the histological and biochemical characteristics of pulmonary arteries from patients with Williams syndrome to those of controls, something that has not, to our knowledge, been done previously. It demonstrates marked abnormalities in the pulmonary arteries of patients with Williams syndrome, especially significant pathologic alterations in the signaling of the serotonin pathway. The findings of this study provide direction for the development of potential therapies to treat pulmonary artery stenosis in patients with Williams syndrome.

Indexed as

ActinsAdolescentAdultCase-Control StudiesChildElastinFemaleGene Expression RegulationHumansMalePulmonary ArteryReceptors, SerotoninSerotoninSerotonin Plasma Membrane Transport ProteinsWilliams SyndromeYoung AdultActinsElastinELN protein, humanReceptors, SerotoninSerotoninSerotonin Plasma Membrane Transport ProteinsSLC6A4 protein, human

Identifiers

PMID33531674
OpenAlexW3126804861

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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.