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Type: Journal article
Title: Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice
Author: Sen, P.
Dharmadhikari, A.
Majewski, T.
Mohammad, M.
Kalin, T.
Zabielska, J.
Ren, X.
Bray, M.
Brown, H.
Welty, S.
Thevananther, S.
Langston, C.
Szafranski, P.
Justice, M.
Kalinichenko, V.
Gambin, A.
Belmont, J.
Stankiewicz, P.
Citation: PLoS One, 2014; 9(4):e94390-1-e94390-10
Publisher: Public Library of Science
Issue Date: 2014
ISSN: 1932-6203
Editor: Koval, M.
Statement of
Partha Sen, Avinash V. Dharmadhikari, Tadeusz Majewski, Mahmoud A. Mohammad, Tanya V. Kalin, Joanna Zabielska, Xiaomeng Ren, Molly Bray, Hannah M. Brown, Stephen Welty, Sundararajah Thevananther, Claire Langston, Przemyslaw Szafranski, Monica J. Justice, Vladimir V. Kalinichenko, Anna Gambin, John Belmont, Pawel Stankiewicz
Abstract: Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACDMPV) is a developmental disorder of the lungs, primarily affecting their vasculature. FOXF1 haploinsufficiency due to heterozygous genomic deletions and point mutations have been reported in most patients with ACDMPV. The majority of mice with heterozygous loss-of-function of Foxf1 exhibit neonatal lethality with evidence of pulmonary hemorrhage in some of them. By comparing transcriptomes of human ACDMPV lungs with control lungs using expression arrays, we found that several genes and pathways involved in lung development, angiogenesis, and in pulmonary hypertension development, were deregulated. Similar transcriptional changes were found in lungs of the postnatal day 0.5 Foxf1+/- mice when compared to their wildtype littermate controls; 14 genes, COL15A1, COL18A1, COL6A2, ESM1, FSCN1, GRINA, IGFBP3, IL1B, MALL, NOS3, RASL11B, MATN2, PRKCDBP, and SIRPA, were found common to both ACDMPV and Foxf1 heterozygous lungs. Our results advance knowledge toward understanding of the molecular mechanism of ACDMPV, lung development, and its vasculature pathology. These data may also be useful for understanding etiologies of other lung disorders, e.g. pulmonary hypertension, bronchopulmonary dysplasia, or cancer.
Keywords: Lung
Pulmonary Alveoli
Pulmonary Veins
Animals, Newborn
Mice, Knockout
Persistent Fetal Circulation Syndrome
Gene Expression Profiling
Gene Expression Regulation
Genes, Lethal
Infant, Newborn
Forkhead Transcription Factors
Metabolic Networks and Pathways
Rights: © 2014 Sen et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
DOI: 10.1371/journal.pone.0094390
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Appears in Collections:Aurora harvest 7
Obstetrics and Gynaecology publications

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