Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome

Germline mutations in the DNMT3A gene can cause an overgrowth syndrome associated with behavioural and hematopoietic phenotypes. Here the authors describe a mouse model of this syndrome that recapitulates many of these features, including conserved alterations in DNA methylation in the blood cells o...

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Autores principales: Amanda M. Smith, Taylor A. LaValle, Marwan Shinawi, Sai M. Ramakrishnan, Haley J. Abel, Cheryl A. Hill, Nicole M. Kirkland, Michael P. Rettig, Nichole M. Helton, Sharon E. Heath, Francesca Ferraro, David Y. Chen, Sangeeta Adak, Clay F. Semenkovich, Diana L. Christian, Jenna R. Martin, Harrison W. Gabel, Christopher A. Miller, Timothy J. Ley
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Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/5e0d8e3763324ed0920eb1d6b6fbeadf
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spelling oai:doaj.org-article:5e0d8e3763324ed0920eb1d6b6fbeadf2021-12-02T16:31:04ZFunctional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome10.1038/s41467-021-24800-72041-1723https://doaj.org/article/5e0d8e3763324ed0920eb1d6b6fbeadf2021-07-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-24800-7https://doaj.org/toc/2041-1723Germline mutations in the DNMT3A gene can cause an overgrowth syndrome associated with behavioural and hematopoietic phenotypes. Here the authors describe a mouse model of this syndrome that recapitulates many of these features, including conserved alterations in DNA methylation in the blood cells of both species.Amanda M. SmithTaylor A. LaValleMarwan ShinawiSai M. RamakrishnanHaley J. AbelCheryl A. HillNicole M. KirklandMichael P. RettigNichole M. HeltonSharon E. HeathFrancesca FerraroDavid Y. ChenSangeeta AdakClay F. SemenkovichDiana L. ChristianJenna R. MartinHarrison W. GabelChristopher A. MillerTimothy J. LeyNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-18 (2021)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
Amanda M. Smith
Taylor A. LaValle
Marwan Shinawi
Sai M. Ramakrishnan
Haley J. Abel
Cheryl A. Hill
Nicole M. Kirkland
Michael P. Rettig
Nichole M. Helton
Sharon E. Heath
Francesca Ferraro
David Y. Chen
Sangeeta Adak
Clay F. Semenkovich
Diana L. Christian
Jenna R. Martin
Harrison W. Gabel
Christopher A. Miller
Timothy J. Ley
Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome
description Germline mutations in the DNMT3A gene can cause an overgrowth syndrome associated with behavioural and hematopoietic phenotypes. Here the authors describe a mouse model of this syndrome that recapitulates many of these features, including conserved alterations in DNA methylation in the blood cells of both species.
format article
author Amanda M. Smith
Taylor A. LaValle
Marwan Shinawi
Sai M. Ramakrishnan
Haley J. Abel
Cheryl A. Hill
Nicole M. Kirkland
Michael P. Rettig
Nichole M. Helton
Sharon E. Heath
Francesca Ferraro
David Y. Chen
Sangeeta Adak
Clay F. Semenkovich
Diana L. Christian
Jenna R. Martin
Harrison W. Gabel
Christopher A. Miller
Timothy J. Ley
author_facet Amanda M. Smith
Taylor A. LaValle
Marwan Shinawi
Sai M. Ramakrishnan
Haley J. Abel
Cheryl A. Hill
Nicole M. Kirkland
Michael P. Rettig
Nichole M. Helton
Sharon E. Heath
Francesca Ferraro
David Y. Chen
Sangeeta Adak
Clay F. Semenkovich
Diana L. Christian
Jenna R. Martin
Harrison W. Gabel
Christopher A. Miller
Timothy J. Ley
author_sort Amanda M. Smith
title Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome
title_short Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome
title_full Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome
title_fullStr Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome
title_full_unstemmed Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome
title_sort functional and epigenetic phenotypes of humans and mice with dnmt3a overgrowth syndrome
publisher Nature Portfolio
publishDate 2021
url https://doaj.org/article/5e0d8e3763324ed0920eb1d6b6fbeadf
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