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5. Comparative Analyses of Lung Transcriptomes in Patients with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins and in Foxf1 Heterozygous Knockout Mice

Author

Sen, Partha, primary, Dharmadhikari, Avinash V., additional, Majewski, Tadeusz, additional, Mohammad, Mahmoud A., additional, Kalin, Tanya V., additional, Zabielska, Joanna, additional, Ren, Xiaomeng, additional, Bray, Molly, additional, Brown, Hannah M., additional, Welty, Stephen, additional, Thevananther, Sundararajah, additional, Langston, Claire, additional, Szafranski, Przemyslaw, additional, Justice, Monica J., additional, Kalinichenko, Vladimir V., additional, Gambin, Anna, additional, Belmont, John, additional, and Stankiewicz, Pawel, additional

Published
2014
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6. Inhibition of Fast Axonal Transport by Pathogenic SOD1 Involves Activation of p38 MAP Kinase

Author

Morfini, Gerardo A., primary, Bosco, Daryl A., additional, Brown, Hannah, additional, Gatto, Rodolfo, additional, Kaminska, Agnieszka, additional, Song, Yuyu, additional, Molla, Linda, additional, Baker, Lisa, additional, Marangoni, M. Natalia, additional, Berth, Sarah, additional, Tavassoli, Ehsan, additional, Bagnato, Carolina, additional, Tiwari, Ashutosh, additional, Hayward, Lawrence J., additional, Pigino, Gustavo F., additional, Watterson, D. Martin, additional, Huang, Chun-Fang, additional, Banker, Gary, additional, Brown, Robert H., additional, and Brady, Scott T., additional

Published
2013
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7. Comparative Analyses of Lung Transcriptomes in Patients with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins and in Foxf1 Heterozygous Knockout Mice.

Author

Sen, Partha, Dharmadhikari, Avinash V., Majewski, Tadeusz, Mohammad, Mahmoud A., Kalin, Tanya V., Zabielska, Joanna, Ren, Xiaomeng, Bray, Molly, Brown, Hannah M., Welty, Stephen, Thevananther, Sundararajah, Langston, Claire, Szafranski, Przemyslaw, Justice, Monica J., Kalinichenko, Vladimir V., Gambin, Anna, Belmont, John, and Stankiewicz, Pawel

Subjects
COMPARATIVE studies, DYSPLASIA, PULMONARY vein abnormalities, KNOCKOUT mice, DEVELOPMENTAL disabilities, LUNG diseases, PATIENTS
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. [ABSTRACT FROM AUTHOR]

Published
2014
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