Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/86408
Citations
Scopus Web of Science® Altmetric
?
?
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
1932-6203
Statement of
Responsibility: 
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; Animals, Newborn; Mice, Knockout; Humans; Mice; Persistent Fetal Circulation Syndrome; Gene Expression Profiling; Gene Expression Regulation; Heterozygote; Genes, Lethal; Infant, Newborn; Female; Male; Forkhead Transcription Factors; Metabolic Networks and Pathways; Transcriptome
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.
RMID: 0030009924
DOI: 10.1371/journal.pone.0094390
Appears in Collections:Obstetrics and Gynaecology publications

Files in This Item:
File Description SizeFormat 
hdl_86408.pdfPublished version2.88 MBAdobe PDFView/Open


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.