Cargando…
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging
Germline mutations in fundamental epigenetic regulatory molecules including DNA methyltransferase 3 alpha (DNMT3A) are commonly associated with growth disorders, whereas somatic mutations are often associated with malignancy. We profiled genome-wide DNA methylation patterns in DNMT3A c.2312G > A;...
Autores principales: | Jeffries, Aaron R., Maroofian, Reza, Salter, Claire G., Chioza, Barry A., Cross, Harold E., Patton, Michael A., Dempster, Emma, Temple, I. Karen, Mackay, Deborah J.G., Rezwan, Faisal I., Aksglaede, Lise, Baralle, Diana, Dabir, Tabib, Hunter, Matthew F., Kamath, Arveen, Kumar, Ajith, Newbury-Ecob, Ruth, Selicorni, Angelo, Springer, Amanda, Van Maldergem, Lionel, Varghese, Vinod, Yachelevich, Naomi, Tatton-Brown, Katrina, Mill, Jonathan, Crosby, Andrew H., Baple, Emma L. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory Press
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6633263/ https://www.ncbi.nlm.nih.gov/pubmed/31160375 http://dx.doi.org/10.1101/gr.243584.118 |
Ejemplares similares
-
Mutations in the DNA methyltransferase gene, DNMT3A, cause an overgrowth syndrome with intellectual disability
por: Tatton-Brown, Katrina, et al.
Publicado: (2014) -
Erasure and reestablishment of random allelic expression imbalance after epigenetic reprogramming
por: Jeffries, Aaron Richard, et al.
Publicado: (2016) -
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with
de novo constitutive
DNMT3A variants
por: Tatton-Brown, Katrina, et al.
Publicado: (2018) -
A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report
por: DEHGHAN TEZERJANI, Masoud, et al.
Publicado: (2016) -
Disease-associated epigenetic changes in monozygotic twins discordant for schizophrenia and bipolar disorder
por: Dempster, Emma L., et al.
Publicado: (2011)